Mutagenetix > Incidental Mutation

Incidental Mutation 'R7932:Pcdh15'

643660

Institutional Source

Beutler Lab

Gene Symbol

Pcdh15

Ensembl Gene

ENSMUSG00000052613

Gene Name

protocadherin 15

Synonyms

Gm9815, nmf19, roda, Ush1f

MMRRC Submission

045649-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7932 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

72935174-74485569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74481359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 235 (R235G)

Ref Sequence

ENSEMBL: ENSMUSP00000134863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124046] [ENSMUST00000125517] [ENSMUST00000131724] [ENSMUST00000144302] [ENSMUST00000146682] [ENSMUST00000149977] [ENSMUST00000151116] [ENSMUST00000177107] [ENSMUST00000191854] [ENSMUST00000193739] [ENSMUST00000195531] [ENSMUST00000152655] [ENSMUST00000152819] [ENSMUST00000155701] [ENSMUST00000191709] [ENSMUST00000193174]

AlphaFold

Q99PJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000124046

SMART Domains

Protein: ENSMUSP00000121130
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
CA	30	118	7.87e-9	SMART
CA	142	224	4.88e-14	SMART
CA	249	326	4.65e-20	SMART
CA	350	428	1.93e-26	SMART
CA	452	535	5.69e-15	SMART
CA	559	645	6.85e-9	SMART
CA	666	753	3.09e-16	SMART
CA	777	861	4.49e-4	SMART
transmembrane domain	986	1008	N/A	INTRINSIC
low complexity region	1029	1056	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125517

SMART Domains

Protein: ENSMUSP00000115399
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
CA	304	393	1.94e-8	SMART
low complexity region	430	468	N/A	INTRINSIC
low complexity region	521	584	N/A	INTRINSIC
low complexity region	610	641	N/A	INTRINSIC
low complexity region	657	685	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131724

SMART Domains

Protein: ENSMUSP00000122466
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
CA	304	393	1.94e-8	SMART
CA	426	507	2.29e-10	SMART
CA	531	613	4.88e-14	SMART
CA	638	715	4.65e-20	SMART
CA	739	817	1.93e-26	SMART
CA	841	924	5.69e-15	SMART
CA	948	1034	6.85e-9	SMART
CA	1055	1142	3.09e-16	SMART
CA	1166	1250	4.49e-4	SMART
transmembrane domain	1375	1397	N/A	INTRINSIC
low complexity region	1418	1445	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144302

SMART Domains

Protein: ENSMUSP00000122606
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
low complexity region	313	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146682
AA Change: R235G

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134863
Gene: ENSMUSG00000052613
AA Change: R235G

Domain	Start	End	E-Value	Type
transmembrane domain	128	150	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149977
AA Change: R1495G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118833
Gene: ENSMUSG00000052613
AA Change: R1495G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
CA	304	393	1.94e-8	SMART
CA	426	507	2.29e-10	SMART
CA	531	613	4.88e-14	SMART
CA	638	715	4.65e-20	SMART
CA	739	817	1.93e-26	SMART
CA	841	924	5.69e-15	SMART
CA	948	1034	6.85e-9	SMART
CA	1055	1142	3.09e-16	SMART
CA	1166	1250	4.49e-4	SMART
transmembrane domain	1375	1397	N/A	INTRINSIC
low complexity region	1418	1445	N/A	INTRINSIC
low complexity region	1477	1494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151116

SMART Domains

Protein: ENSMUSP00000119662
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	69	150	1.22e-1	SMART
CA	179	268	5.48e-8	SMART
CA	309	398	1.94e-8	SMART
CA	431	519	7.87e-9	SMART
CA	543	625	4.88e-14	SMART
CA	650	727	4.65e-20	SMART
CA	751	829	1.93e-26	SMART
CA	853	936	5.69e-15	SMART
CA	960	1046	6.85e-9	SMART
CA	1067	1154	3.09e-16	SMART
CA	1178	1262	4.49e-4	SMART
transmembrane domain	1387	1409	N/A	INTRINSIC
low complexity region	1430	1457	N/A	INTRINSIC
low complexity region	1489	1519	N/A	INTRINSIC
low complexity region	1521	1539	N/A	INTRINSIC
low complexity region	1592	1655	N/A	INTRINSIC
low complexity region	1681	1712	N/A	INTRINSIC
low complexity region	1728	1756	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177107
AA Change: R1502G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135501
Gene: ENSMUSG00000052613
AA Change: R1502G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	69	150	1.22e-1	SMART
CA	179	268	5.48e-8	SMART
CA	309	398	1.94e-8	SMART
CA	431	512	2.29e-10	SMART
CA	536	618	4.88e-14	SMART
CA	643	720	4.65e-20	SMART
CA	744	822	1.93e-26	SMART
CA	846	929	5.69e-15	SMART
CA	953	1039	6.85e-9	SMART
CA	1060	1147	3.09e-16	SMART
CA	1171	1255	4.49e-4	SMART
transmembrane domain	1380	1402	N/A	INTRINSIC
low complexity region	1423	1450	N/A	INTRINSIC
low complexity region	1482	1499	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191854
AA Change: R1497G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141973
Gene: ENSMUSG00000052613
AA Change: R1497G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
CA	304	393	1.94e-8	SMART
CA	426	507	2.29e-10	SMART
CA	531	613	4.88e-14	SMART
CA	638	715	4.65e-20	SMART
CA	739	817	1.93e-26	SMART
CA	841	924	5.69e-15	SMART
CA	948	1034	6.85e-9	SMART
CA	1055	1142	3.09e-16	SMART
CA	1166	1250	4.49e-4	SMART
transmembrane domain	1375	1397	N/A	INTRINSIC
low complexity region	1418	1445	N/A	INTRINSIC
low complexity region	1477	1494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193739
AA Change: R1497G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142173
Gene: ENSMUSG00000052613
AA Change: R1497G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	69	150	1.22e-1	SMART
CA	179	268	5.48e-8	SMART
CA	309	398	1.94e-8	SMART
CA	431	512	2.29e-10	SMART
CA	536	618	4.88e-14	SMART
CA	643	720	4.65e-20	SMART
CA	744	822	1.93e-26	SMART
CA	846	929	5.69e-15	SMART
CA	953	1039	6.85e-9	SMART
CA	1060	1147	3.09e-16	SMART
CA	1171	1255	4.49e-4	SMART
transmembrane domain	1382	1404	N/A	INTRINSIC
low complexity region	1420	1447	N/A	INTRINSIC
low complexity region	1477	1494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195531
AA Change: R1534G

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141920
Gene: ENSMUSG00000052613
AA Change: R1534G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	6e-4	SMART
CA	174	263	2.8e-10	SMART
CA	304	393	9.4e-11	SMART
CA	426	507	1.2e-12	SMART
CA	531	613	2.3e-16	SMART
CA	638	715	2.3e-22	SMART
CA	739	817	9.3e-29	SMART
CA	841	924	2.8e-17	SMART
CA	948	1034	3.3e-11	SMART
CA	1055	1142	1.5e-18	SMART
CA	1166	1250	2.3e-6	SMART
transmembrane domain	1377	1399	N/A	INTRINSIC
low complexity region	1415	1442	N/A	INTRINSIC
low complexity region	1514	1531	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152655

SMART Domains

Protein: ENSMUSP00000118201
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	6e-4	SMART
CA	174	263	2.8e-10	SMART
CA	304	393	9.4e-11	SMART
CA	426	507	1.2e-12	SMART
CA	531	613	2.3e-16	SMART
CA	638	726	3.4e-6	SMART
low complexity region	783	846	N/A	INTRINSIC
low complexity region	872	903	N/A	INTRINSIC
low complexity region	919	947	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152819

SMART Domains

Protein: ENSMUSP00000123647
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
Blast:CA	304	363	1e-33	BLAST
low complexity region	364	399	N/A	INTRINSIC
low complexity region	452	515	N/A	INTRINSIC
low complexity region	541	572	N/A	INTRINSIC
low complexity region	588	616	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155701

SMART Domains

Protein: ENSMUSP00000135495
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
Blast:CA	304	330	2e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000191709

SMART Domains

Protein: ENSMUSP00000142313
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	69	150	1.22e-1	SMART
CA	179	268	5.48e-8	SMART
CA	309	398	1.94e-8	SMART
CA	431	512	2.29e-10	SMART
CA	536	618	4.88e-14	SMART
CA	643	720	4.65e-20	SMART
CA	744	822	1.93e-26	SMART
CA	846	929	5.69e-15	SMART
CA	953	1039	6.85e-9	SMART
CA	1060	1147	3.09e-16	SMART
CA	1171	1255	4.49e-4	SMART
transmembrane domain	1380	1402	N/A	INTRINSIC
low complexity region	1423	1450	N/A	INTRINSIC
low complexity region	1480	1510	N/A	INTRINSIC
low complexity region	1512	1530	N/A	INTRINSIC
low complexity region	1583	1646	N/A	INTRINSIC
low complexity region	1672	1703	N/A	INTRINSIC
low complexity region	1719	1747	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193174

SMART Domains

Protein: ENSMUSP00000142238
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	6e-4	SMART
CA	174	263	2.8e-10	SMART
CA	304	393	9.4e-11	SMART
CA	426	514	3.8e-11	SMART
CA	538	620	2.3e-16	SMART
CA	645	722	2.3e-22	SMART
CA	746	824	9.3e-29	SMART
CA	848	931	2.8e-17	SMART
CA	955	1041	3.3e-11	SMART
CA	1062	1149	1.5e-18	SMART
CA	1173	1257	2.3e-6	SMART
transmembrane domain	1382	1404	N/A	INTRINSIC
low complexity region	1425	1452	N/A	INTRINSIC
low complexity region	1482	1512	N/A	INTRINSIC
low complexity region	1514	1532	N/A	INTRINSIC
low complexity region	1585	1648	N/A	INTRINSIC
low complexity region	1674	1705	N/A	INTRINSIC
low complexity region	1721	1749	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygotes for severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Gene trapped(2) Transgenic(1) Spontaneous(6) Chemically induced(2)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,415,100 (GRCm39)	R666G	unknown	Het
Adam21	T	A	12: 81,606,938 (GRCm39)	N275Y	probably damaging	Het
Adam33	G	A	2: 130,905,617 (GRCm39)		probably benign	Het
Arhgap24	A	T	5: 102,993,835 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,135 (GRCm39)	L459F	probably damaging	Het
Bbx	A	T	16: 50,030,806 (GRCm39)		probably null	Het
Blk	C	T	14: 63,611,008 (GRCm39)	G445S	possibly damaging	Het
Brca1	T	C	11: 101,430,843 (GRCm39)	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,012,097 (GRCm39)	L513R	probably damaging	Het
Cnn3	T	A	3: 121,245,078 (GRCm39)	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,532 (GRCm39)	L716F	probably damaging	Het
Dlgap1	A	T	17: 70,823,233 (GRCm39)	R73W	probably damaging	Het
Dnajc4	A	G	19: 6,965,638 (GRCm39)	L182P	probably damaging	Het
Dock2	T	C	11: 34,217,998 (GRCm39)	M1191V	probably benign	Het
Fam13a	C	T	6: 58,960,873 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,153,555 (GRCm39)	G2569E	possibly damaging	Het
Fes	T	C	7: 80,029,620 (GRCm39)	I623V	probably damaging	Het
Fyco1	A	C	9: 123,658,055 (GRCm39)	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,766,169 (GRCm39)	V7E	possibly damaging	Het
Gm19410	T	A	8: 36,262,753 (GRCm39)	C897S	probably damaging	Het
Hk1	A	G	10: 62,151,299 (GRCm39)	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,167,397 (GRCm39)	K261N	probably damaging	Het
Hrh4	T	A	18: 13,148,869 (GRCm39)	L77*	probably null	Het
Igf1r	A	T	7: 67,861,802 (GRCm39)	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Itk	A	T	11: 46,231,519 (GRCm39)	W346R	probably benign	Het
Kdm2a	A	G	19: 4,369,184 (GRCm39)	S1144P	probably damaging	Het
Krt86	A	T	15: 101,374,473 (GRCm39)	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,690,070 (GRCm39)	I663V	probably benign	Het
Lrp2	T	G	2: 69,256,371 (GRCm39)	I4590L	probably benign	Het
Lrrc8d	C	T	5: 105,960,891 (GRCm39)	R434C	probably damaging	Het
Maneal	T	C	4: 124,755,638 (GRCm39)	Y108C	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Myh8	G	A	11: 67,185,430 (GRCm39)	V894I	probably benign	Het
Ncam2	T	G	16: 81,412,708 (GRCm39)	L732R	probably damaging	Het
Nsun4	A	T	4: 115,901,997 (GRCm39)	D156E	probably damaging	Het
Or10z1	T	C	1: 174,078,260 (GRCm39)	I78V	probably benign	Het
Or1e23	A	C	11: 73,407,983 (GRCm39)	L14R	probably damaging	Het
Or2n1d	A	T	17: 38,646,146 (GRCm39)	I33L	probably benign	Het
Or5b106	A	T	19: 13,123,345 (GRCm39)	M226K	probably benign	Het
Or5v1b	T	C	17: 37,841,075 (GRCm39)	I69T	probably benign	Het
Or6c66	C	A	10: 129,461,094 (GRCm39)	V279F	probably damaging	Het
P2rx7	G	A	5: 122,782,245 (GRCm39)	V37I	probably benign	Het
Pcdhga1	T	C	18: 37,796,513 (GRCm39)	S506P	probably damaging	Het
Pira2	A	T	7: 3,845,435 (GRCm39)		probably null	Het
Plch1	A	G	3: 63,609,402 (GRCm39)	V935A	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prpf8	A	G	11: 75,383,423 (GRCm39)	D607G	possibly damaging	Het
Ptdss1	T	C	13: 67,114,496 (GRCm39)	W215R	probably damaging	Het
Ptpn9	C	A	9: 56,943,900 (GRCm39)	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,697,346 (GRCm39)	V85A	possibly damaging	Het
Sacs	C	A	14: 61,442,327 (GRCm39)	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,692,211 (GRCm39)	S24T	probably benign	Het
Siae	A	G	9: 37,544,980 (GRCm39)	D325G	probably benign	Het
Slc22a23	C	A	13: 34,366,960 (GRCm39)	A683S	probably damaging	Het
Slc44a3	A	T	3: 121,306,009 (GRCm39)	I244N	possibly damaging	Het
Srrm2	T	A	17: 24,037,501 (GRCm39)	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,393,706 (GRCm39)	Y207C	probably damaging	Het
Timd5	C	A	11: 46,426,366 (GRCm39)	P158T	probably benign	Het
Tnc	T	C	4: 63,926,857 (GRCm39)	I890V	probably benign	Het
Trim30a	A	T	7: 104,078,545 (GRCm39)	I177N	probably benign	Het
Tshz2	T	A	2: 169,728,251 (GRCm39)	M949K	possibly damaging	Het
Ttn	T	G	2: 76,555,530 (GRCm39)	T30492P	probably damaging	Het
Ubb	C	T	11: 62,443,611 (GRCm39)	Q214*	probably null	Het
Ulk2	A	G	11: 61,698,916 (GRCm39)	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,534,725 (GRCm39)	D149E	probably benign	Het
Zbtb24	A	G	10: 41,327,504 (GRCm39)	D130G	probably benign	Het
Zfp689	C	A	7: 127,043,523 (GRCm39)	G369V	probably damaging	Het
Zg16	A	G	7: 126,649,577 (GRCm39)	F128S	probably damaging	Het
Zmym1	T	G	4: 126,944,578 (GRCm39)	N203T	possibly damaging	Het

Other mutations in Pcdh15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Pcdh15	APN	10	74,021,177 (GRCm39)	nonsense	probably null
IGL00432:Pcdh15	APN	10	74,126,914 (GRCm39)	splice site	probably benign
IGL00533:Pcdh15	APN	10	74,338,552 (GRCm39)	missense	probably damaging	1.00
IGL00596:Pcdh15	APN	10	74,466,576 (GRCm39)	missense	probably benign	0.00
IGL00930:Pcdh15	APN	10	74,466,530 (GRCm39)	missense	probably benign	0.08
IGL00970:Pcdh15	APN	10	74,215,172 (GRCm39)	missense	probably damaging	1.00
IGL01087:Pcdh15	APN	10	74,178,464 (GRCm39)	missense	possibly damaging	0.90
IGL01763:Pcdh15	APN	10	74,046,293 (GRCm39)	missense	probably benign	0.09
IGL01787:Pcdh15	APN	10	74,286,115 (GRCm39)	missense	probably benign	0.25
IGL02070:Pcdh15	APN	10	74,466,700 (GRCm39)	missense	probably benign	0.00
IGL02234:Pcdh15	APN	10	74,467,694 (GRCm39)	missense	probably benign	0.02
IGL02268:Pcdh15	APN	10	74,178,504 (GRCm39)	missense	probably damaging	1.00
IGL02280:Pcdh15	APN	10	74,058,295 (GRCm39)	missense	probably damaging	1.00
IGL02363:Pcdh15	APN	10	74,152,918 (GRCm39)	missense	probably damaging	0.98
IGL02420:Pcdh15	APN	10	74,138,938 (GRCm39)	missense	probably damaging	0.98
IGL02749:Pcdh15	APN	10	74,466,900 (GRCm39)	missense	probably benign	0.00
IGL02939:Pcdh15	APN	10	74,340,648 (GRCm39)	splice site	probably benign
IGL02970:Pcdh15	APN	10	74,126,794 (GRCm39)	splice site	probably benign
IGL03010:Pcdh15	APN	10	74,221,777 (GRCm39)	missense	probably damaging	1.00
IGL03061:Pcdh15	APN	10	74,152,843 (GRCm39)	missense	probably damaging	0.97
IGL03095:Pcdh15	APN	10	74,191,706 (GRCm39)	missense	probably damaging	1.00
IGL03149:Pcdh15	APN	10	74,466,527 (GRCm39)	missense	probably damaging	1.00
IGL03187:Pcdh15	APN	10	74,191,706 (GRCm39)	missense	probably damaging	1.00
IGL03279:Pcdh15	APN	10	74,152,904 (GRCm39)	missense	probably damaging	1.00
IGL03392:Pcdh15	APN	10	74,460,104 (GRCm39)	missense	probably damaging	1.00
loop	UTSW	10	74,021,210 (GRCm39)	missense	probably damaging	1.00
mcduck	UTSW	10	74,462,676 (GRCm39)	critical splice donor site	probably null
spaz	UTSW	10	74,046,257 (GRCm39)	missense	probably damaging	1.00
sphere	UTSW	10	74,460,116 (GRCm39)	missense	probably damaging	1.00
squirm	UTSW	10	0 ()	large deletion
Tortilla	UTSW	10	74,215,249 (GRCm39)	splice site	probably null
1mM(1):Pcdh15	UTSW	10	74,461,969 (GRCm39)	intron	probably benign
BB009:Pcdh15	UTSW	10	74,481,359 (GRCm39)	missense	probably benign	0.18
BB019:Pcdh15	UTSW	10	74,481,359 (GRCm39)	missense	probably benign	0.18
R0038:Pcdh15	UTSW	10	74,479,272 (GRCm39)	missense	possibly damaging	0.95
R0103:Pcdh15	UTSW	10	74,046,257 (GRCm39)	missense	probably damaging	1.00
R0110:Pcdh15	UTSW	10	74,126,808 (GRCm39)	missense	probably damaging	1.00
R0111:Pcdh15	UTSW	10	74,462,651 (GRCm39)	nonsense	probably null
R0119:Pcdh15	UTSW	10	74,006,407 (GRCm39)	missense	probably damaging	1.00
R0131:Pcdh15	UTSW	10	74,006,440 (GRCm39)	missense	probably null	1.00
R0445:Pcdh15	UTSW	10	74,178,381 (GRCm39)	missense	probably damaging	1.00
R0464:Pcdh15	UTSW	10	74,462,676 (GRCm39)	critical splice donor site	probably null
R0503:Pcdh15	UTSW	10	74,046,217 (GRCm39)	missense	probably damaging	1.00
R0507:Pcdh15	UTSW	10	74,457,129 (GRCm39)	missense	probably damaging	1.00
R0510:Pcdh15	UTSW	10	74,126,808 (GRCm39)	missense	probably damaging	1.00
R0742:Pcdh15	UTSW	10	74,457,129 (GRCm39)	missense	probably damaging	1.00
R0790:Pcdh15	UTSW	10	74,466,885 (GRCm39)	missense	probably benign	0.01
R0829:Pcdh15	UTSW	10	74,338,598 (GRCm39)	missense	probably damaging	1.00
R0839:Pcdh15	UTSW	10	74,462,614 (GRCm39)	missense	probably null	1.00
R0882:Pcdh15	UTSW	10	74,178,488 (GRCm39)	missense	probably damaging	1.00
R0894:Pcdh15	UTSW	10	74,460,087 (GRCm39)	missense	probably damaging	1.00
R0944:Pcdh15	UTSW	10	74,046,302 (GRCm39)	missense	probably damaging	0.99
R1081:Pcdh15	UTSW	10	74,286,145 (GRCm39)	missense	probably damaging	1.00
R1148:Pcdh15	UTSW	10	74,006,392 (GRCm39)	missense	probably damaging	1.00
R1148:Pcdh15	UTSW	10	74,006,392 (GRCm39)	missense	probably damaging	1.00
R1484:Pcdh15	UTSW	10	74,126,833 (GRCm39)	missense	probably damaging	1.00
R1521:Pcdh15	UTSW	10	74,430,023 (GRCm39)	missense	probably damaging	1.00
R1694:Pcdh15	UTSW	10	74,429,995 (GRCm39)	missense	probably damaging	1.00
R1795:Pcdh15	UTSW	10	74,460,087 (GRCm39)	missense	probably damaging	1.00
R2021:Pcdh15	UTSW	10	74,467,025 (GRCm39)	missense	possibly damaging	0.93
R2022:Pcdh15	UTSW	10	74,467,025 (GRCm39)	missense	possibly damaging	0.93
R2023:Pcdh15	UTSW	10	74,467,025 (GRCm39)	missense	possibly damaging	0.93
R2076:Pcdh15	UTSW	10	74,178,479 (GRCm39)	missense	probably damaging	1.00
R2199:Pcdh15	UTSW	10	74,006,341 (GRCm39)	missense	probably damaging	1.00
R2510:Pcdh15	UTSW	10	74,467,331 (GRCm39)	missense	probably benign	0.39
R2511:Pcdh15	UTSW	10	74,481,828 (GRCm39)	missense	possibly damaging	0.94
R3418:Pcdh15	UTSW	10	74,420,054 (GRCm39)	missense	probably benign	0.12
R3419:Pcdh15	UTSW	10	74,420,054 (GRCm39)	missense	probably benign	0.12
R3433:Pcdh15	UTSW	10	74,467,331 (GRCm39)	missense	probably benign	0.39
R3619:Pcdh15	UTSW	10	74,479,227 (GRCm39)	missense	probably benign	0.19
R3723:Pcdh15	UTSW	10	74,481,680 (GRCm39)	missense	probably benign	0.05
R3724:Pcdh15	UTSW	10	74,481,680 (GRCm39)	missense	probably benign	0.05
R3778:Pcdh15	UTSW	10	73,782,983 (GRCm39)	splice site	probably null
R3851:Pcdh15	UTSW	10	74,467,518 (GRCm39)	missense	probably damaging	0.97
R4175:Pcdh15	UTSW	10	74,467,829 (GRCm39)	intron	probably benign
R4261:Pcdh15	UTSW	10	74,481,512 (GRCm39)	missense	probably damaging	1.00
R4385:Pcdh15	UTSW	10	74,386,322 (GRCm39)	missense	probably damaging	1.00
R4585:Pcdh15	UTSW	10	74,460,116 (GRCm39)	missense	probably damaging	1.00
R4602:Pcdh15	UTSW	10	74,430,046 (GRCm39)	missense	probably damaging	1.00
R4639:Pcdh15	UTSW	10	74,479,439 (GRCm39)	missense	probably benign	0.00
R4703:Pcdh15	UTSW	10	74,285,995 (GRCm39)	missense	probably damaging	1.00
R4819:Pcdh15	UTSW	10	74,160,221 (GRCm39)	missense	probably damaging	1.00
R4906:Pcdh15	UTSW	10	74,340,625 (GRCm39)	nonsense	probably null
R4961:Pcdh15	UTSW	10	74,215,249 (GRCm39)	splice site	probably null
R5018:Pcdh15	UTSW	10	74,479,607 (GRCm39)	missense	possibly damaging	0.68
R5125:Pcdh15	UTSW	10	74,419,912 (GRCm39)	missense	probably damaging	0.98
R5225:Pcdh15	UTSW	10	74,138,986 (GRCm39)	missense	probably damaging	1.00
R5259:Pcdh15	UTSW	10	74,232,204 (GRCm39)	missense	possibly damaging	0.67
R5279:Pcdh15	UTSW	10	74,430,015 (GRCm39)	missense	probably damaging	1.00
R5395:Pcdh15	UTSW	10	74,021,119 (GRCm39)	missense	probably damaging	1.00
R5458:Pcdh15	UTSW	10	74,340,611 (GRCm39)	missense	probably damaging	1.00
R5617:Pcdh15	UTSW	10	74,471,504 (GRCm39)	intron	probably benign
R5665:Pcdh15	UTSW	10	74,462,620 (GRCm39)	missense	probably damaging	1.00
R5770:Pcdh15	UTSW	10	74,021,177 (GRCm39)	nonsense	probably null
R5805:Pcdh15	UTSW	10	74,066,091 (GRCm39)	missense	probably damaging	1.00
R5914:Pcdh15	UTSW	10	74,466,768 (GRCm39)	missense	probably benign	0.42
R5988:Pcdh15	UTSW	10	74,215,189 (GRCm39)	missense	probably benign	0.05
R6133:Pcdh15	UTSW	10	74,481,805 (GRCm39)	splice site	probably null
R6189:Pcdh15	UTSW	10	74,178,483 (GRCm39)	missense	probably null	1.00
R6414:Pcdh15	UTSW	10	74,021,258 (GRCm39)	missense	probably damaging	1.00
R6536:Pcdh15	UTSW	10	74,467,221 (GRCm39)	missense	probably damaging	1.00
R6612:Pcdh15	UTSW	10	74,021,210 (GRCm39)	missense	probably damaging	1.00
R6711:Pcdh15	UTSW	10	74,478,219 (GRCm39)	missense	possibly damaging	0.83
R6793:Pcdh15	UTSW	10	74,466,971 (GRCm39)	missense	probably damaging	1.00
R6841:Pcdh15	UTSW	10	74,286,052 (GRCm39)	missense	probably damaging	1.00
R6845:Pcdh15	UTSW	10	74,466,465 (GRCm39)	missense	probably benign
R6915:Pcdh15	UTSW	10	74,479,641 (GRCm39)	missense	probably benign	0.16
R6954:Pcdh15	UTSW	10	74,481,821 (GRCm39)	missense	possibly damaging	0.92
R6970:Pcdh15	UTSW	10	74,338,519 (GRCm39)	missense	probably damaging	0.98
R7018:Pcdh15	UTSW	10	74,302,186 (GRCm39)	missense	probably damaging	1.00
R7064:Pcdh15	UTSW	10	74,466,446 (GRCm39)	missense	possibly damaging	0.67
R7079:Pcdh15	UTSW	10	74,152,957 (GRCm39)	missense	probably benign	0.21
R7172:Pcdh15	UTSW	10	74,338,597 (GRCm39)	missense	probably damaging	1.00
R7220:Pcdh15	UTSW	10	74,178,441 (GRCm39)	missense	possibly damaging	0.64
R7237:Pcdh15	UTSW	10	74,420,023 (GRCm39)	missense	possibly damaging	0.88
R7266:Pcdh15	UTSW	10	74,215,222 (GRCm39)	nonsense	probably null
R7276:Pcdh15	UTSW	10	74,160,224 (GRCm39)	missense	probably benign	0.25
R7359:Pcdh15	UTSW	10	74,420,048 (GRCm39)	missense	probably damaging	0.99
R7396:Pcdh15	UTSW	10	74,466,522 (GRCm39)	missense	probably benign	0.17
R7421:Pcdh15	UTSW	10	74,289,897 (GRCm39)	missense	possibly damaging	0.90
R7424:Pcdh15	UTSW	10	74,342,317 (GRCm39)	missense	probably benign	0.09
R7463:Pcdh15	UTSW	10	74,467,602 (GRCm39)	missense	possibly damaging	0.66
R7469:Pcdh15	UTSW	10	74,481,812 (GRCm39)	missense	probably benign
R7512:Pcdh15	UTSW	10	74,477,214 (GRCm39)	missense	possibly damaging	0.81
R7767:Pcdh15	UTSW	10	74,322,088 (GRCm39)	missense	probably benign	0.07
R7830:Pcdh15	UTSW	10	74,221,733 (GRCm39)	missense	probably damaging	1.00
R7890:Pcdh15	UTSW	10	74,478,146 (GRCm39)	missense	probably damaging	1.00
R7897:Pcdh15	UTSW	10	74,289,827 (GRCm39)	missense	probably damaging	1.00
R7908:Pcdh15	UTSW	10	74,479,414 (GRCm39)	missense	probably benign	0.04
R7940:Pcdh15	UTSW	10	74,430,022 (GRCm39)	missense	probably damaging	1.00
R8230:Pcdh15	UTSW	10	74,191,707 (GRCm39)	missense	probably damaging	1.00
R8307:Pcdh15	UTSW	10	74,342,307 (GRCm39)	nonsense	probably null
R8382:Pcdh15	UTSW	10	74,479,227 (GRCm39)	missense	probably benign	0.19
R8397:Pcdh15	UTSW	10	74,126,865 (GRCm39)	missense	probably damaging	1.00
R8498:Pcdh15	UTSW	10	74,317,974 (GRCm39)	missense	probably damaging	1.00
R8692:Pcdh15	UTSW	10	74,289,805 (GRCm39)	missense	possibly damaging	0.63
R8797:Pcdh15	UTSW	10	74,419,978 (GRCm39)	missense	probably damaging	1.00
R9020:Pcdh15	UTSW	10	74,481,443 (GRCm39)	missense	probably benign	0.01
R9033:Pcdh15	UTSW	10	74,302,138 (GRCm39)	missense	probably damaging	1.00
R9056:Pcdh15	UTSW	10	74,221,731 (GRCm39)	missense	probably damaging	1.00
R9177:Pcdh15	UTSW	10	74,479,455 (GRCm39)	missense	probably benign	0.13
R9191:Pcdh15	UTSW	10	74,161,981 (GRCm39)	missense	probably benign	0.38
R9268:Pcdh15	UTSW	10	74,479,455 (GRCm39)	missense	probably benign	0.13
R9279:Pcdh15	UTSW	10	74,461,756 (GRCm39)	intron	probably benign
R9294:Pcdh15	UTSW	10	74,479,560 (GRCm39)	missense	unknown
R9387:Pcdh15	UTSW	10	74,066,192 (GRCm39)	missense	probably damaging	0.98
R9409:Pcdh15	UTSW	10	74,160,190 (GRCm39)	missense	probably damaging	0.98
R9410:Pcdh15	UTSW	10	74,481,663 (GRCm39)	frame shift	probably null
R9412:Pcdh15	UTSW	10	74,481,663 (GRCm39)	frame shift	probably null
R9432:Pcdh15	UTSW	10	74,460,170 (GRCm39)	missense	probably damaging	1.00
R9444:Pcdh15	UTSW	10	74,478,176 (GRCm39)	missense	probably damaging	1.00
R9579:Pcdh15	UTSW	10	74,457,117 (GRCm39)	missense	possibly damaging	0.89
R9643:Pcdh15	UTSW	10	74,479,335 (GRCm39)	missense	probably benign	0.18
R9784:Pcdh15	UTSW	10	74,467,212 (GRCm39)	missense	probably benign	0.00
RF020:Pcdh15	UTSW	10	74,021,242 (GRCm39)	missense	probably damaging	1.00
Z1176:Pcdh15	UTSW	10	74,466,533 (GRCm39)	missense	probably benign	0.00
Z1177:Pcdh15	UTSW	10	74,340,632 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCTACTTCCAAACTCAGC -3'
(R):5'- TCAAGTTATCAGCGACGCAG -3'

Sequencing Primer
(F):5'- GATGTTTCGACTCTGGATCCAATACG -3'
(R):5'- AGGCACGGCGTGTTCTC -3'

Posted On

2020-08-07