Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Pcdh15'

541377

Institutional Source

Beutler Lab

Gene Symbol

Pcdh15

Ensembl Gene

ENSMUSG00000052613

Gene Name

protocadherin 15

Synonyms

Gm9815, nmf19, Ush1f

MMRRC Submission

045066-MU

Accession Numbers

Genbank: NM_023115; Ensembl: ENSMUST00000105425

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73099342-74649737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74645989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 1651 (H1651Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141973 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000146682
AA Change: H389Y

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134863
Gene: ENSMUSG00000052613
AA Change: H389Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149977
AA Change: H1649Y

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118833
Gene: ENSMUSG00000052613
AA Change: H1649Y

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: 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

possibly damaging
Transcript: ENSMUST00000177107
AA Change: H1656Y

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135501
Gene: ENSMUSG00000052613
AA Change: H1656Y

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: 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

possibly damaging
Transcript: ENSMUST00000191854
AA Change: H1651Y

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141973
Gene: ENSMUSG00000052613
AA Change: H1651Y

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: 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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193739
AA Change: H1651Y

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142173
Gene: ENSMUSG00000052613
AA Change: H1651Y

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

possibly damaging
Transcript: ENSMUST00000195531
AA Change: H1688Y

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141920
Gene: ENSMUSG00000052613
AA Change: H1688Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	T	A	11: 58,608,488 (GRCm38)	Y168F	probably benign	Het
4930451I11Rik	A	T	7: 126,830,637 (GRCm38)		probably null	Het
Alox5	A	C	6: 116,420,280 (GRCm38)	Y314*	probably null	Het
Ap4e1	T	C	2: 127,064,951 (GRCm38)	S1044P	probably benign	Het
Ash2l	A	G	8: 25,822,768 (GRCm38)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 141,067,232 (GRCm38)	T326A	probably benign	Het
Ccm2	T	A	11: 6,594,239 (GRCm38)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,748,559 (GRCm38)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,599,496 (GRCm38)	L849S	probably damaging	Het
Ctrb1	A	G	8: 111,686,664 (GRCm38)	S239P	probably damaging	Het
D13Ertd608e	A	G	13: 119,846,130 (GRCm38)	D20G	possibly damaging	Het
Dennd1b	T	A	1: 139,168,945 (GRCm38)		probably benign	Het
Dnah17	A	G	11: 118,066,432 (GRCm38)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,226,043 (GRCm38)	F267L	probably damaging	Het
Fcrls	A	G	3: 87,263,676 (GRCm38)		probably benign	Het
Furin	G	T	7: 80,396,964 (GRCm38)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,200,587 (GRCm38)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,168,490 (GRCm38)	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,504,643 (GRCm38)	I191N	probably damaging	Het
Hspa12a	T	C	19: 58,799,692 (GRCm38)	D566G	probably benign	Het
Igf1	G	C	10: 87,864,860 (GRCm38)	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm38)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,782,507 (GRCm38)	R16C	probably benign	Het
Marf1	A	G	16: 14,138,520 (GRCm38)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,891,952 (GRCm38)	S428T	probably benign	Het
Myo1d	T	C	11: 80,674,957 (GRCm38)	I347M	probably benign	Het
Myo9b	A	G	8: 71,290,819 (GRCm38)	I175V	probably damaging	Het
Naip5	A	T	13: 100,223,414 (GRCm38)	V438E	probably damaging	Het
Nup205	T	A	6: 35,208,109 (GRCm38)	V768E	possibly damaging	Het
Olfr1015	T	A	2: 85,786,382 (GRCm38)	Y290*	probably null	Het
Olfr731	A	T	14: 50,238,110 (GRCm38)	Y258*	probably null	Het
Pdgfra	A	T	5: 75,173,394 (GRCm38)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,553,897 (GRCm38)	I791M	probably benign	Het
Pik3c2b	T	G	1: 133,066,303 (GRCm38)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 95,068,247 (GRCm38)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,817,853 (GRCm38)	L1294*	probably null	Het
Pprc1	T	C	19: 46,064,433 (GRCm38)	S797P	probably damaging	Het
Prob1	A	G	18: 35,654,268 (GRCm38)	V311A	probably benign	Het
Prune2	C	A	19: 17,000,021 (GRCm38)	T40K	probably damaging	Het
Rif1	T	G	2: 52,112,691 (GRCm38)	D2052E	probably benign	Het
Sall1	A	G	8: 89,032,891 (GRCm38)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,427,946 (GRCm38)		probably null	Het
Sidt2	A	T	9: 45,952,850 (GRCm38)	N123K	probably benign	Het
Slc22a6	G	A	19: 8,622,096 (GRCm38)	A320T	probably benign	Het
Slc25a10	A	G	11: 120,498,147 (GRCm38)	H279R	probably benign	Het
Slc35b4	A	G	6: 34,158,621 (GRCm38)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,886,340 (GRCm38)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,801,893 (GRCm38)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,627,770 (GRCm38)	T87I	probably benign	Het
Tdpoz2	A	T	3: 93,652,275 (GRCm38)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,554,724 (GRCm38)		probably null	Het
Tmppe	G	A	9: 114,405,523 (GRCm38)	V297I	probably benign	Het
Ung	G	T	5: 114,131,337 (GRCm38)	A37S	probably benign	Het
Vdac1	T	C	11: 52,386,373 (GRCm38)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,921,367 (GRCm38)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,956,452 (GRCm38)	I27T	probably benign	Het
Zfp280b	T	A	10: 76,039,688 (GRCm38)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,484,365 (GRCm38)	I329V	probably damaging	Het

Other mutations in Pcdh15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Pcdh15	APN	10	74,185,345 (GRCm38)	nonsense	probably null
IGL00432:Pcdh15	APN	10	74,291,082 (GRCm38)	splice site	probably benign
IGL00533:Pcdh15	APN	10	74,502,720 (GRCm38)	missense	probably damaging	1.00
IGL00596:Pcdh15	APN	10	74,630,744 (GRCm38)	missense	probably benign	0.00
IGL00930:Pcdh15	APN	10	74,630,698 (GRCm38)	missense	probably benign	0.08
IGL00970:Pcdh15	APN	10	74,379,340 (GRCm38)	missense	probably damaging	1.00
IGL01087:Pcdh15	APN	10	74,342,632 (GRCm38)	missense	possibly damaging	0.90
IGL01763:Pcdh15	APN	10	74,210,461 (GRCm38)	missense	probably benign	0.09
IGL01787:Pcdh15	APN	10	74,450,283 (GRCm38)	missense	probably benign	0.25
IGL02070:Pcdh15	APN	10	74,630,868 (GRCm38)	missense	probably benign	0.00
IGL02234:Pcdh15	APN	10	74,631,862 (GRCm38)	missense	probably benign	0.02
IGL02268:Pcdh15	APN	10	74,342,672 (GRCm38)	missense	probably damaging	1.00
IGL02280:Pcdh15	APN	10	74,222,463 (GRCm38)	missense	probably damaging	1.00
IGL02363:Pcdh15	APN	10	74,317,086 (GRCm38)	missense	probably damaging	0.98
IGL02420:Pcdh15	APN	10	74,303,106 (GRCm38)	missense	probably damaging	0.98
IGL02749:Pcdh15	APN	10	74,631,068 (GRCm38)	missense	probably benign	0.00
IGL02939:Pcdh15	APN	10	74,504,816 (GRCm38)	splice site	probably benign
IGL02970:Pcdh15	APN	10	74,290,962 (GRCm38)	splice site	probably benign
IGL03010:Pcdh15	APN	10	74,385,945 (GRCm38)	missense	probably damaging	1.00
IGL03061:Pcdh15	APN	10	74,317,011 (GRCm38)	missense	probably damaging	0.97
IGL03095:Pcdh15	APN	10	74,355,874 (GRCm38)	missense	probably damaging	1.00
IGL03149:Pcdh15	APN	10	74,630,695 (GRCm38)	missense	probably damaging	1.00
IGL03187:Pcdh15	APN	10	74,355,874 (GRCm38)	missense	probably damaging	1.00
IGL03279:Pcdh15	APN	10	74,317,072 (GRCm38)	missense	probably damaging	1.00
IGL03392:Pcdh15	APN	10	74,624,272 (GRCm38)	missense	probably damaging	1.00
loop	UTSW	10	74,185,378 (GRCm38)	missense	probably damaging	1.00
mcduck	UTSW	10	74,626,844 (GRCm38)	critical splice donor site	probably null
spaz	UTSW	10	74,210,425 (GRCm38)	missense	probably damaging	1.00
sphere	UTSW	10	74,624,284 (GRCm38)	missense	probably damaging	1.00
squirm	UTSW	10	0 ()	large deletion
Tortilla	UTSW	10	74,379,417 (GRCm38)	splice site	probably null
1mM(1):Pcdh15	UTSW	10	74,626,137 (GRCm38)	intron	probably benign
BB009:Pcdh15	UTSW	10	74,645,527 (GRCm38)	missense	probably benign	0.18
BB019:Pcdh15	UTSW	10	74,645,527 (GRCm38)	missense	probably benign	0.18
R0038:Pcdh15	UTSW	10	74,643,440 (GRCm38)	missense	possibly damaging	0.95
R0103:Pcdh15	UTSW	10	74,210,425 (GRCm38)	missense	probably damaging	1.00
R0110:Pcdh15	UTSW	10	74,290,976 (GRCm38)	missense	probably damaging	1.00
R0111:Pcdh15	UTSW	10	74,626,819 (GRCm38)	nonsense	probably null
R0119:Pcdh15	UTSW	10	74,170,575 (GRCm38)	missense	probably damaging	1.00
R0131:Pcdh15	UTSW	10	74,170,608 (GRCm38)	missense	probably null	1.00
R0445:Pcdh15	UTSW	10	74,342,549 (GRCm38)	missense	probably damaging	1.00
R0464:Pcdh15	UTSW	10	74,626,844 (GRCm38)	critical splice donor site	probably null
R0503:Pcdh15	UTSW	10	74,210,385 (GRCm38)	missense	probably damaging	1.00
R0507:Pcdh15	UTSW	10	74,621,297 (GRCm38)	missense	probably damaging	1.00
R0510:Pcdh15	UTSW	10	74,290,976 (GRCm38)	missense	probably damaging	1.00
R0742:Pcdh15	UTSW	10	74,621,297 (GRCm38)	missense	probably damaging	1.00
R0790:Pcdh15	UTSW	10	74,631,053 (GRCm38)	missense	probably benign	0.01
R0829:Pcdh15	UTSW	10	74,502,766 (GRCm38)	missense	probably damaging	1.00
R0839:Pcdh15	UTSW	10	74,626,782 (GRCm38)	missense	probably null	1.00
R0882:Pcdh15	UTSW	10	74,342,656 (GRCm38)	missense	probably damaging	1.00
R0894:Pcdh15	UTSW	10	74,624,255 (GRCm38)	missense	probably damaging	1.00
R0944:Pcdh15	UTSW	10	74,210,470 (GRCm38)	missense	probably damaging	0.99
R1081:Pcdh15	UTSW	10	74,450,313 (GRCm38)	missense	probably damaging	1.00
R1148:Pcdh15	UTSW	10	74,170,560 (GRCm38)	missense	probably damaging	1.00
R1148:Pcdh15	UTSW	10	74,170,560 (GRCm38)	missense	probably damaging	1.00
R1484:Pcdh15	UTSW	10	74,291,001 (GRCm38)	missense	probably damaging	1.00
R1521:Pcdh15	UTSW	10	74,594,191 (GRCm38)	missense	probably damaging	1.00
R1694:Pcdh15	UTSW	10	74,594,163 (GRCm38)	missense	probably damaging	1.00
R1795:Pcdh15	UTSW	10	74,624,255 (GRCm38)	missense	probably damaging	1.00
R2021:Pcdh15	UTSW	10	74,631,193 (GRCm38)	missense	possibly damaging	0.93
R2022:Pcdh15	UTSW	10	74,631,193 (GRCm38)	missense	possibly damaging	0.93
R2023:Pcdh15	UTSW	10	74,631,193 (GRCm38)	missense	possibly damaging	0.93
R2076:Pcdh15	UTSW	10	74,342,647 (GRCm38)	missense	probably damaging	1.00
R2199:Pcdh15	UTSW	10	74,170,509 (GRCm38)	missense	probably damaging	1.00
R2510:Pcdh15	UTSW	10	74,631,499 (GRCm38)	missense	probably benign	0.39
R2511:Pcdh15	UTSW	10	74,645,996 (GRCm38)	missense	possibly damaging	0.94
R3418:Pcdh15	UTSW	10	74,584,222 (GRCm38)	missense	probably benign	0.12
R3419:Pcdh15	UTSW	10	74,584,222 (GRCm38)	missense	probably benign	0.12
R3433:Pcdh15	UTSW	10	74,631,499 (GRCm38)	missense	probably benign	0.39
R3619:Pcdh15	UTSW	10	74,643,395 (GRCm38)	missense	probably benign	0.19
R3723:Pcdh15	UTSW	10	74,645,848 (GRCm38)	missense	probably benign	0.05
R3724:Pcdh15	UTSW	10	74,645,848 (GRCm38)	missense	probably benign	0.05
R3778:Pcdh15	UTSW	10	73,947,151 (GRCm38)	splice site	probably null
R3851:Pcdh15	UTSW	10	74,631,686 (GRCm38)	missense	probably damaging	0.97
R4175:Pcdh15	UTSW	10	74,631,997 (GRCm38)	intron	probably benign
R4261:Pcdh15	UTSW	10	74,645,680 (GRCm38)	missense	probably damaging	1.00
R4385:Pcdh15	UTSW	10	74,550,490 (GRCm38)	missense	probably damaging	1.00
R4585:Pcdh15	UTSW	10	74,624,284 (GRCm38)	missense	probably damaging	1.00
R4602:Pcdh15	UTSW	10	74,594,214 (GRCm38)	missense	probably damaging	1.00
R4639:Pcdh15	UTSW	10	74,643,607 (GRCm38)	missense	probably benign	0.00
R4703:Pcdh15	UTSW	10	74,450,163 (GRCm38)	missense	probably damaging	1.00
R4819:Pcdh15	UTSW	10	74,324,389 (GRCm38)	missense	probably damaging	1.00
R4906:Pcdh15	UTSW	10	74,504,793 (GRCm38)	nonsense	probably null
R4961:Pcdh15	UTSW	10	74,379,417 (GRCm38)	splice site	probably null
R5018:Pcdh15	UTSW	10	74,643,775 (GRCm38)	missense	possibly damaging	0.68
R5125:Pcdh15	UTSW	10	74,584,080 (GRCm38)	missense	probably damaging	0.98
R5225:Pcdh15	UTSW	10	74,303,154 (GRCm38)	missense	probably damaging	1.00
R5259:Pcdh15	UTSW	10	74,396,372 (GRCm38)	missense	possibly damaging	0.67
R5279:Pcdh15	UTSW	10	74,594,183 (GRCm38)	missense	probably damaging	1.00
R5395:Pcdh15	UTSW	10	74,185,287 (GRCm38)	missense	probably damaging	1.00
R5458:Pcdh15	UTSW	10	74,504,779 (GRCm38)	missense	probably damaging	1.00
R5617:Pcdh15	UTSW	10	74,635,672 (GRCm38)	intron	probably benign
R5665:Pcdh15	UTSW	10	74,626,788 (GRCm38)	missense	probably damaging	1.00
R5770:Pcdh15	UTSW	10	74,185,345 (GRCm38)	nonsense	probably null
R5805:Pcdh15	UTSW	10	74,230,259 (GRCm38)	missense	probably damaging	1.00
R5914:Pcdh15	UTSW	10	74,630,936 (GRCm38)	missense	probably benign	0.42
R5988:Pcdh15	UTSW	10	74,379,357 (GRCm38)	missense	probably benign	0.05
R6133:Pcdh15	UTSW	10	74,645,973 (GRCm38)	splice site	probably null
R6189:Pcdh15	UTSW	10	74,342,651 (GRCm38)	missense	probably null	1.00
R6414:Pcdh15	UTSW	10	74,185,426 (GRCm38)	missense	probably damaging	1.00
R6536:Pcdh15	UTSW	10	74,631,389 (GRCm38)	missense	probably damaging	1.00
R6612:Pcdh15	UTSW	10	74,185,378 (GRCm38)	missense	probably damaging	1.00
R6711:Pcdh15	UTSW	10	74,642,387 (GRCm38)	missense	possibly damaging	0.83
R6793:Pcdh15	UTSW	10	74,631,139 (GRCm38)	missense	probably damaging	1.00
R6841:Pcdh15	UTSW	10	74,450,220 (GRCm38)	missense	probably damaging	1.00
R6845:Pcdh15	UTSW	10	74,630,633 (GRCm38)	missense	probably benign
R6915:Pcdh15	UTSW	10	74,643,809 (GRCm38)	missense	probably benign	0.16
R6970:Pcdh15	UTSW	10	74,502,687 (GRCm38)	missense	probably damaging	0.98
R7018:Pcdh15	UTSW	10	74,466,354 (GRCm38)	missense	probably damaging	1.00
R7064:Pcdh15	UTSW	10	74,630,614 (GRCm38)	missense	possibly damaging	0.67
R7079:Pcdh15	UTSW	10	74,317,125 (GRCm38)	missense	probably benign	0.21
R7172:Pcdh15	UTSW	10	74,502,765 (GRCm38)	missense	probably damaging	1.00
R7220:Pcdh15	UTSW	10	74,342,609 (GRCm38)	missense	possibly damaging	0.64
R7237:Pcdh15	UTSW	10	74,584,191 (GRCm38)	missense	possibly damaging	0.88
R7266:Pcdh15	UTSW	10	74,379,390 (GRCm38)	nonsense	probably null
R7276:Pcdh15	UTSW	10	74,324,392 (GRCm38)	missense	probably benign	0.25
R7359:Pcdh15	UTSW	10	74,584,216 (GRCm38)	missense	probably damaging	0.99
R7396:Pcdh15	UTSW	10	74,630,690 (GRCm38)	missense	probably benign	0.17
R7421:Pcdh15	UTSW	10	74,454,065 (GRCm38)	missense	possibly damaging	0.90
R7424:Pcdh15	UTSW	10	74,506,485 (GRCm38)	missense	probably benign	0.09
R7463:Pcdh15	UTSW	10	74,631,770 (GRCm38)	missense	possibly damaging	0.66
R7469:Pcdh15	UTSW	10	74,645,980 (GRCm38)	missense	probably benign
R7512:Pcdh15	UTSW	10	74,641,382 (GRCm38)	missense	possibly damaging	0.81
R7767:Pcdh15	UTSW	10	74,486,256 (GRCm38)	missense	probably benign	0.07
R7830:Pcdh15	UTSW	10	74,385,901 (GRCm38)	missense	probably damaging	1.00
R7890:Pcdh15	UTSW	10	74,642,314 (GRCm38)	missense	probably damaging	1.00
R7897:Pcdh15	UTSW	10	74,453,995 (GRCm38)	missense	probably damaging	1.00
R7908:Pcdh15	UTSW	10	74,643,582 (GRCm38)	missense	probably benign	0.04
R7932:Pcdh15	UTSW	10	74,645,527 (GRCm38)	missense	probably benign	0.18
R7940:Pcdh15	UTSW	10	74,594,190 (GRCm38)	missense	probably damaging	1.00
R8230:Pcdh15	UTSW	10	74,355,875 (GRCm38)	missense	probably damaging	1.00
R8307:Pcdh15	UTSW	10	74,506,475 (GRCm38)	nonsense	probably null
R8382:Pcdh15	UTSW	10	74,643,395 (GRCm38)	missense	probably benign	0.19
R8397:Pcdh15	UTSW	10	74,291,033 (GRCm38)	missense	probably damaging	1.00
R8498:Pcdh15	UTSW	10	74,482,142 (GRCm38)	missense	probably damaging	1.00
R8692:Pcdh15	UTSW	10	74,453,973 (GRCm38)	missense	possibly damaging	0.63
R8797:Pcdh15	UTSW	10	74,584,146 (GRCm38)	missense	probably damaging	1.00
R9020:Pcdh15	UTSW	10	74,645,611 (GRCm38)	missense	probably benign	0.01
R9033:Pcdh15	UTSW	10	74,466,306 (GRCm38)	missense	probably damaging	1.00
R9056:Pcdh15	UTSW	10	74,385,899 (GRCm38)	missense	probably damaging	1.00
R9177:Pcdh15	UTSW	10	74,643,623 (GRCm38)	missense	probably benign	0.13
R9191:Pcdh15	UTSW	10	74,326,149 (GRCm38)	missense	probably benign	0.38
R9268:Pcdh15	UTSW	10	74,643,623 (GRCm38)	missense	probably benign	0.13
R9279:Pcdh15	UTSW	10	74,625,924 (GRCm38)	intron	probably benign
R9294:Pcdh15	UTSW	10	74,643,728 (GRCm38)	missense	unknown
R9387:Pcdh15	UTSW	10	74,230,360 (GRCm38)	missense	probably damaging	0.98
R9409:Pcdh15	UTSW	10	74,324,358 (GRCm38)	missense	probably damaging	0.98
R9410:Pcdh15	UTSW	10	74,645,831 (GRCm38)	frame shift	probably null
R9412:Pcdh15	UTSW	10	74,645,831 (GRCm38)	frame shift	probably null
R9432:Pcdh15	UTSW	10	74,624,338 (GRCm38)	missense	probably damaging	1.00
R9444:Pcdh15	UTSW	10	74,642,344 (GRCm38)	missense	probably damaging	1.00
R9579:Pcdh15	UTSW	10	74,621,285 (GRCm38)	missense	possibly damaging	0.89
R9643:Pcdh15	UTSW	10	74,643,503 (GRCm38)	missense	probably benign	0.18
R9784:Pcdh15	UTSW	10	74,631,380 (GRCm38)	missense	probably benign	0.00
RF020:Pcdh15	UTSW	10	74,185,410 (GRCm38)	missense	probably damaging	1.00
Z1176:Pcdh15	UTSW	10	74,630,701 (GRCm38)	missense	probably benign	0.00
Z1177:Pcdh15	UTSW	10	74,504,800 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAATGTGCCCCTGAACAC -3'
(R):5'- AGCAGATCATTCGAAGTGTTAGG -3'

Sequencing Primer
(F):5'- ACACACTGTTCAAGGGGC -3'
(R):5'- GGTTGTGCACATGTGATAAACCCC -3'

Posted On

2018-11-28