Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Pcdh15'

539294

Institutional Source

Beutler Lab

Gene Symbol

Pcdh15

Ensembl Gene

ENSMUSG00000052613

Gene Name

protocadherin 15

Synonyms

Gm9815, nmf19, roda, Ush1f

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72935174-74485569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74479641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 846 (E846V)

Ref Sequence

ENSEMBL: ENSMUSP00000118201 (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

unknown
Transcript: ENSMUST00000125517
AA Change: E584V

SMART Domains

Protein: ENSMUSP00000115399
Gene: ENSMUSG00000052613
AA Change: E584V

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

SMART Domains

Protein: ENSMUSP00000134863
Gene: ENSMUSG00000052613

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

SMART Domains

Protein: ENSMUSP00000118833
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
low complexity region	1477	1494	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000151116
AA Change: E1655V

SMART Domains

Protein: ENSMUSP00000119662
Gene: ENSMUSG00000052613
AA Change: E1655V

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
AA Change: E846V

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118201
Gene: ENSMUSG00000052613
AA Change: E846V

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

unknown
Transcript: ENSMUST00000152819
AA Change: E515V

SMART Domains

Protein: ENSMUSP00000123647
Gene: ENSMUSG00000052613
AA Change: E515V

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: ENSMUST00000177107

SMART Domains

Protein: ENSMUSP00000135501
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	1482	1499	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000191709
AA Change: E1646V

SMART Domains

Protein: ENSMUSP00000142313
Gene: ENSMUSG00000052613
AA Change: E1646V

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: ENSMUST00000191854

SMART Domains

Protein: ENSMUSP00000141973
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
low complexity region	1477	1494	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000193174
AA Change: E1648V

SMART Domains

Protein: ENSMUSP00000142238
Gene: ENSMUSG00000052613
AA Change: E1648V

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

probably benign
Transcript: ENSMUST00000193739

SMART Domains

Protein: ENSMUSP00000142173
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	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

SMART Domains

Protein: ENSMUSP00000141920
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	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: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,422,390 (GRCm39)	L334I	probably damaging	Het
Akap9	T	A	5: 4,010,551 (GRCm39)	M436K	probably benign	Het
Ankmy1	A	C	1: 92,816,173 (GRCm39)	F314V	probably null	Het
Arid5b	G	A	10: 68,022,042 (GRCm39)	Q183*	probably null	Het
Atp8b4	A	T	2: 126,200,834 (GRCm39)	L778*	probably null	Het
BC024139	G	T	15: 76,004,221 (GRCm39)	N739K	probably benign	Het
Carns1	T	G	19: 4,219,912 (GRCm39)	H441P	probably benign	Het
Cby2	T	A	14: 75,830,098 (GRCm39)	T32S	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,523 (GRCm39)	W394R	probably damaging	Het
Cfap70	T	A	14: 20,459,153 (GRCm39)	I693F	probably benign	Het
Cldn3	A	G	5: 135,015,426 (GRCm39)	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,796,686 (GRCm39)	P1608L	probably benign	Het
Cr2	T	A	1: 194,853,454 (GRCm39)	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,424,512 (GRCm39)	I269F	probably damaging	Het
Dapk1	A	T	13: 60,844,256 (GRCm39)	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,759,771 (GRCm39)	L292*	probably null	Het
Dhx38	T	C	8: 110,286,231 (GRCm39)	E353G	probably benign	Het
Dnm3	T	C	1: 162,145,966 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,762,488 (GRCm39)	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,321,500 (GRCm39)	V351D	possibly damaging	Het
Epg5	T	A	18: 78,022,380 (GRCm39)	V1041E	probably benign	Het
Exoc4	A	G	6: 33,898,388 (GRCm39)	K869R	possibly damaging	Het
Fat3	C	A	9: 16,289,044 (GRCm39)	V160F	probably benign	Het
Gak	A	T	5: 108,750,816 (GRCm39)	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,360,104 (GRCm39)		probably null	Het
Gm21738	A	G	14: 19,415,933 (GRCm38)	M202T	probably benign	Het
Havcr2	C	T	11: 46,366,738 (GRCm39)	S177L	probably benign	Het
Hkdc1	G	C	10: 62,237,711 (GRCm39)	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,510,444 (GRCm39)	G200S	probably damaging	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Lair1	A	T	7: 4,058,952 (GRCm39)	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,562,293 (GRCm39)	N26D	probably damaging	Het
Lyst	T	A	13: 13,900,629 (GRCm39)	D3168E	probably benign	Het
Map6	G	A	7: 98,917,454 (GRCm39)	A76T	probably damaging	Het
Mcoln3	A	T	3: 145,843,011 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,587,312 (GRCm39)	F2718L	probably benign	Het
Nek11	C	G	9: 105,270,256 (GRCm39)		probably benign	Het
Or10n7-ps1	T	C	9: 39,597,832 (GRCm39)	E136G	unknown	Het
Or2z8	C	A	8: 72,811,574 (GRCm39)	L17I	probably benign	Het
Or4d6	A	G	19: 12,086,490 (GRCm39)	V140A	probably benign	Het
Pcdhga8	C	T	18: 37,858,998 (GRCm39)	T18M	probably benign	Het
Per3	T	C	4: 151,128,106 (GRCm39)	M61V	possibly damaging	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,156,947 (GRCm39)	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,789,035 (GRCm39)	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prkce	G	C	17: 86,800,835 (GRCm39)	G417A	probably damaging	Het
Ptar1	A	G	19: 23,680,501 (GRCm39)	N106D	probably damaging	Het
Rbm15	C	A	3: 107,239,627 (GRCm39)	R257L	probably benign	Het
Rptor	T	G	11: 119,647,171 (GRCm39)	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257 (GRCm39)	W350R	probably damaging	Het
Ryr2	T	G	13: 11,760,487 (GRCm39)	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,820,110 (GRCm39)	V379L	possibly damaging	Het
Sox8	C	T	17: 25,786,888 (GRCm39)	V272I	probably damaging	Het
Stard9	C	T	2: 120,533,111 (GRCm39)	H3123Y	probably benign	Het
Taar9	C	T	10: 23,984,910 (GRCm39)	E175K	possibly damaging	Het
Tinag	T	A	9: 76,908,897 (GRCm39)	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,965,687 (GRCm39)	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,118,342 (GRCm39)	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,657 (GRCm39)	Q366K	probably benign	Het
Txndc2	T	C	17: 65,945,286 (GRCm39)	D297G	probably benign	Het
Ulk4	A	G	9: 121,087,886 (GRCm39)	F269L	probably benign	Het
Vps39	A	T	2: 120,151,512 (GRCm39)	Y738*	probably null	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
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
R7932:Pcdh15	UTSW	10	74,481,359 (GRCm39)	missense	probably benign	0.18
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'- AAGCTACCGAAAGCACCGTG -3'
(R):5'- AGACTGATTCTGCACTGCCC -3'

Sequencing Primer
(F):5'- TACCGAAAGCACCGTGGAGTC -3'
(R):5'- CCAGGTCTGTGGACTCATCC -3'

Posted On

2018-11-06