Mutagenetix > Incidental Mutation

Incidental Mutation 'R1381:Pcdh7'

163006

Institutional Source

Beutler Lab

Gene Symbol

Pcdh7

Ensembl Gene

ENSMUSG00000029108

Gene Name

protocadherin 7

Synonyms

BH-protocadherin

MMRRC Submission

039443-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R1381 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57717967-58133230 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 57721540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 126 (Y126*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068110] [ENSMUST00000094783] [ENSMUST00000191837] [ENSMUST00000199310]

AlphaFold

A0A0A6YY83

Predicted Effect

probably null
Transcript: ENSMUST00000068110
AA Change: Y812*

SMART Domains

Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: Y812*

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
CA	48	141	7.29e-4	SMART
CA	165	306	1.13e-18	SMART
CA	330	413	2.12e-23	SMART
CA	445	533	1.53e-20	SMART
CA	557	637	1.36e-26	SMART
CA	661	740	2.38e-26	SMART
CA	766	847	2.01e-15	SMART
transmembrane domain	878	900	N/A	INTRINSIC
low complexity region	929	944	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000094783
AA Change: Y812*

SMART Domains

Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: Y812*

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
CA	48	141	7.29e-4	SMART
CA	165	306	1.13e-18	SMART
CA	330	413	2.12e-23	SMART
CA	445	533	1.53e-20	SMART
CA	557	637	1.36e-26	SMART
CA	661	740	2.38e-26	SMART
CA	766	847	2.01e-15	SMART
transmembrane domain	878	900	N/A	INTRINSIC
low complexity region	929	944	N/A	INTRINSIC
low complexity region	1088	1099	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180708

Predicted Effect

probably null
Transcript: ENSMUST00000191837
AA Change: Y812*

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: Y812*

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
CA	48	141	7.29e-4	SMART
CA	165	306	1.13e-18	SMART
CA	330	413	2.12e-23	SMART
CA	445	533	1.53e-20	SMART
CA	557	637	1.36e-26	SMART
CA	661	740	2.38e-26	SMART
CA	766	847	2.01e-15	SMART
transmembrane domain	878	900	N/A	INTRINSIC
low complexity region	929	944	N/A	INTRINSIC
low complexity region	1088	1099	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192048

Predicted Effect

probably null
Transcript: ENSMUST00000192287
AA Change: Y472*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193156

Predicted Effect

probably null
Transcript: ENSMUST00000195156
AA Change: Y126*

Predicted Effect

probably benign
Transcript: ENSMUST00000199310

SMART Domains

Protein: ENSMUSP00000143387
Gene: ENSMUSG00000029108

Domain	Start	End	E-Value	Type
Pfam:Protocadherin	1	79	5.1e-40	PFAM
low complexity region	112	123	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200266

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,731,086	F252L	probably benign	Het
Aadac	A	T	3: 60,039,930	M350L	probably damaging	Het
Agtrap	G	A	4: 148,083,965	T19I	probably damaging	Het
Apba3	C	T	10: 81,271,756	T142M	possibly damaging	Het
Cd55b	T	A	1: 130,419,675	K133I	probably damaging	Het
Cep295	A	C	9: 15,322,565	C2312G	probably benign	Het
Ces1a	A	G	8: 93,034,031	V231A	probably damaging	Het
Chdh	C	A	14: 30,036,834	L579I	probably damaging	Het
Cyb5r4	T	A	9: 87,022,233	S19T	probably benign	Het
Cyp2d22	C	A	15: 82,372,508	R355L	probably benign	Het
Dach2	T	C	X: 113,298,775	Y117H	probably damaging	Het
Dennd4c	G	A	4: 86,774,532	R93K	probably benign	Het
Dph2	G	T	4: 117,889,668	L452I	probably damaging	Het
Exoc6b	T	C	6: 84,835,117	D634G	probably benign	Het
Fam217b	G	A	2: 178,420,425	V61I	probably benign	Het
Fbln7	A	C	2: 128,877,379	Q32P	probably damaging	Het
Fgfr1op2	A	G	6: 146,588,741	Y46C	probably damaging	Het
Fhod3	T	A	18: 25,090,471	I958N	probably damaging	Het
Foxp2	T	A	6: 15,409,766	M455K	possibly damaging	Het
Gabrr2	G	A	4: 33,081,420	G152D	probably damaging	Het
Galntl6	G	T	8: 58,472,955	P92Q	probably damaging	Het
Gm5592	A	T	7: 41,286,172	T33S	probably benign	Het
Grid2ip	A	T	5: 143,362,651	T166S	probably benign	Het
Grsf1	G	A	5: 88,665,864	S225L	probably benign	Het
Hadha	G	T	5: 30,128,836	T395K	probably benign	Het
Hars2	C	T	18: 36,789,217	A295V	possibly damaging	Het
Hsf5	T	A	11: 87,638,169	S577T	probably benign	Het
Ice2	A	G	9: 69,400,527	Y31C	probably damaging	Het
Ift80	A	T	3: 68,914,783	I643N	possibly damaging	Het
Iglon5	A	T	7: 43,476,640	D222E	probably benign	Het
Ilvbl	C	A	10: 78,576,596	S50R	probably damaging	Het
Invs	C	A	4: 48,421,942	S858*	probably null	Het
Ipo13	T	G	4: 117,904,395	T508P	probably damaging	Het
Itgb4	T	C	11: 115,994,337	I1015T	probably benign	Het
Kank4	A	T	4: 98,779,938	W91R	probably damaging	Het
Kansl1l	C	T	1: 66,720,904	A906T	probably benign	Het
Klk4	G	A	7: 43,885,282	V222M	probably damaging	Het
Lipo4	T	A	19: 33,499,341	M336L	probably benign	Het
Lrig1	T	C	6: 94,606,130	N1002D	probably benign	Het
Lzts3	A	G	2: 130,635,299	S524P	probably damaging	Het
Maz	A	T	7: 127,023,152	C409*	probably null	Het
Mmp24	A	T	2: 155,814,127	Q495L	possibly damaging	Het
Mrgpra9	C	T	7: 47,235,302	V206I	possibly damaging	Het
Myof	A	G	19: 37,995,485	Y124H	probably damaging	Het
Nalcn	A	T	14: 123,314,105	V1030D	probably damaging	Het
Neb	T	A	2: 52,260,532	I2495F	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nrbf2	G	A	10: 67,267,826	T166M	probably damaging	Het
Nup153	T	C	13: 46,689,181	D837G	probably damaging	Het
Nup210	C	A	6: 91,075,960	G331V	probably damaging	Het
Olfr1143	T	C	2: 87,803,136	L245P	probably damaging	Het
Olfr1447	T	C	19: 12,900,956	T275A	probably benign	Het
Olfr5	A	G	7: 6,481,009		probably null	Het
Olfr923	T	A	9: 38,828,338	S210T	probably benign	Het
Pabpc4	T	A	4: 123,289,059	L163H	probably damaging	Het
Papd5	T	A	8: 88,243,309	M203K	possibly damaging	Het
Pdzd2	A	G	15: 12,385,439	S1082P	probably benign	Het
Pkd2l1	T	C	19: 44,150,463	I649M	probably benign	Het
Plcl2	G	A	17: 50,607,729	E589K	probably damaging	Het
Plppr1	C	A	4: 49,337,674	T325N	possibly damaging	Het
Pqlc1	T	G	18: 80,283,314	S126A	probably benign	Het
Prss8	GCTGCCCAAGTCCC	GC	7: 127,929,849		probably benign	Het
Ptcd2	A	G	13: 99,344,597	S25P	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rusc2	T	A	4: 43,416,137	V481E	probably damaging	Het
Sephs2	G	T	7: 127,272,967	T318K	probably damaging	Het
Sf3b1	T	A	1: 55,003,154	I497L	probably damaging	Het
Slc30a7	C	T	3: 115,956,870		probably null	Het
Smarca2	T	C	19: 26,630,828	S96P	probably damaging	Het
Spata31d1c	A	C	13: 65,036,554	I637L	probably benign	Het
Ston2	A	T	12: 91,740,492	S115T	probably damaging	Het
Tal2	A	C	4: 53,785,999	E60A	probably benign	Het
Tdpoz3	A	T	3: 93,826,140	T41S	probably benign	Het
Tespa1	T	C	10: 130,360,691	I166T	probably benign	Het
Thsd7a	A	T	6: 12,555,439	C149S	probably damaging	Het
Trav6-1	T	A	14: 52,638,510		probably benign	Het
Txnl4a	T	C	18: 80,207,264	V25A	probably benign	Het
Utp4	C	A	8: 106,906,276	P297Q	probably benign	Het
Vmn1r34	T	C	6: 66,636,938	Y272C	probably damaging	Het
Vmn2r112	A	T	17: 22,618,486	I643F	probably damaging	Het
Vmn2r121	C	A	X: 124,128,140	G728W	probably damaging	Het
Vmn2r24	T	A	6: 123,786,733	S190T	probably damaging	Het
Zfp507	A	G	7: 35,776,010	V926A	possibly damaging	Het

Other mutations in Pcdh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Pcdh7	APN	5	57721464	missense	probably damaging	1.00
IGL00920:Pcdh7	APN	5	57720131	missense	probably damaging	0.96
IGL00990:Pcdh7	APN	5	57720464	missense	possibly damaging	0.94
IGL01367:Pcdh7	APN	5	58129224	missense	possibly damaging	0.67
IGL01388:Pcdh7	APN	5	57720204	missense	probably damaging	1.00
IGL01543:Pcdh7	APN	5	57720765	missense	probably damaging	1.00
IGL01750:Pcdh7	APN	5	57720422	missense	probably damaging	1.00
IGL02010:Pcdh7	APN	5	58129255	missense	probably benign
IGL02014:Pcdh7	APN	5	57719703	missense	probably benign	0.03
IGL02269:Pcdh7	APN	5	57913322	missense	probably damaging	1.00
IGL03051:Pcdh7	APN	5	58129073	missense	probably damaging	0.99
floated	UTSW	5	57721362	missense	probably damaging	1.00
proposed	UTSW	5	57722240	missense	probably damaging	0.99
P0037:Pcdh7	UTSW	5	57913248	missense	probably benign	0.17
R0003:Pcdh7	UTSW	5	57913248	missense	probably benign	0.17
R0421:Pcdh7	UTSW	5	57720060	missense	probably damaging	1.00
R0551:Pcdh7	UTSW	5	57721994	missense	probably damaging	0.99
R0562:Pcdh7	UTSW	5	57720063	missense	probably damaging	0.99
R0732:Pcdh7	UTSW	5	57721315	missense	probably damaging	1.00
R0755:Pcdh7	UTSW	5	57720322	missense	possibly damaging	0.86
R1080:Pcdh7	UTSW	5	57719426	missense	probably damaging	1.00
R1591:Pcdh7	UTSW	5	57720422	missense	probably damaging	1.00
R1891:Pcdh7	UTSW	5	57720875	missense	probably damaging	0.98
R2011:Pcdh7	UTSW	5	57719629	missense	probably damaging	1.00
R2140:Pcdh7	UTSW	5	58128996	missense	probably damaging	1.00
R2147:Pcdh7	UTSW	5	58129116	missense	possibly damaging	0.51
R2848:Pcdh7	UTSW	5	57720276	missense	probably damaging	1.00
R2867:Pcdh7	UTSW	5	57721894	missense	probably damaging	1.00
R2867:Pcdh7	UTSW	5	57721894	missense	probably damaging	1.00
R3719:Pcdh7	UTSW	5	58129032	missense	probably damaging	1.00
R4075:Pcdh7	UTSW	5	57721808	missense	probably damaging	1.00
R4231:Pcdh7	UTSW	5	57719289	missense	possibly damaging	0.94
R4236:Pcdh7	UTSW	5	57719289	missense	possibly damaging	0.94
R4352:Pcdh7	UTSW	5	57722019	missense	possibly damaging	0.88
R4420:Pcdh7	UTSW	5	58129170	missense	probably benign	0.03
R4449:Pcdh7	UTSW	5	57720485	missense	probably damaging	1.00
R4584:Pcdh7	UTSW	5	57721283	missense	probably damaging	1.00
R4686:Pcdh7	UTSW	5	58129169	missense	probably benign
R4837:Pcdh7	UTSW	5	57720411	missense	possibly damaging	0.89
R4838:Pcdh7	UTSW	5	57720804	missense	probably damaging	1.00
R4947:Pcdh7	UTSW	5	57721916	missense	probably damaging	0.98
R5053:Pcdh7	UTSW	5	57721601	missense	probably damaging	0.99
R5068:Pcdh7	UTSW	5	57722166	missense	probably damaging	1.00
R5117:Pcdh7	UTSW	5	57721748	missense	probably benign	0.09
R5132:Pcdh7	UTSW	5	57728121	missense	probably benign
R5248:Pcdh7	UTSW	5	58129173	missense	probably damaging	0.97
R5294:Pcdh7	UTSW	5	57728111	splice site	probably null
R5420:Pcdh7	UTSW	5	57720187	missense	probably damaging	1.00
R5777:Pcdh7	UTSW	5	57719514	missense	probably damaging	1.00
R5800:Pcdh7	UTSW	5	57722225	missense	probably damaging	1.00
R5834:Pcdh7	UTSW	5	57721628	missense	possibly damaging	0.90
R5870:Pcdh7	UTSW	5	57720411	missense	possibly damaging	0.89
R5917:Pcdh7	UTSW	5	57721755	missense	probably damaging	0.96
R6014:Pcdh7	UTSW	5	57721155	missense	probably damaging	0.99
R6193:Pcdh7	UTSW	5	57720324	missense	probably damaging	1.00
R6240:Pcdh7	UTSW	5	57721362	missense	probably damaging	1.00
R6335:Pcdh7	UTSW	5	57942265	splice site	probably null
R6418:Pcdh7	UTSW	5	57721704	missense	probably damaging	1.00
R6907:Pcdh7	UTSW	5	57719129	missense	possibly damaging	0.53
R7058:Pcdh7	UTSW	5	57722240	missense	probably damaging	0.99
R7069:Pcdh7	UTSW	5	57719784	missense	probably benign	0.00
R7073:Pcdh7	UTSW	5	57720957	missense	probably benign	0.19
R7463:Pcdh7	UTSW	5	57720998	missense	probably benign	0.06
R7509:Pcdh7	UTSW	5	57720187	missense	probably damaging	1.00
R7588:Pcdh7	UTSW	5	57719904	missense	probably damaging	1.00
R7707:Pcdh7	UTSW	5	57720330	missense	probably damaging	0.99
R7734:Pcdh7	UTSW	5	57719634	missense	probably damaging	0.99
R7899:Pcdh7	UTSW	5	57719810	missense	probably benign
R8194:Pcdh7	UTSW	5	57720336	missense	probably damaging	1.00
R8480:Pcdh7	UTSW	5	58129065	missense	probably damaging	1.00
R8890:Pcdh7	UTSW	5	57719375	missense	probably damaging	1.00
R8906:Pcdh7	UTSW	5	57721812	missense	probably damaging	1.00
R8990:Pcdh7	UTSW	5	57722022	missense	probably benign	0.06
R9264:Pcdh7	UTSW	5	58129321	missense	probably benign	0.09
R9272:Pcdh7	UTSW	5	57721437	missense	possibly damaging	0.81
R9294:Pcdh7	UTSW	5	57721335	missense	probably benign	0.39
R9518:Pcdh7	UTSW	5	57913171	missense	possibly damaging	0.81
R9597:Pcdh7	UTSW	5	57719855	missense	possibly damaging	0.68
R9642:Pcdh7	UTSW	5	57719375	missense	probably damaging	1.00
R9745:Pcdh7	UTSW	5	57722280	critical splice donor site	probably null
X0021:Pcdh7	UTSW	5	57721484	missense	possibly damaging	0.95
X0026:Pcdh7	UTSW	5	57719379	missense	probably damaging	1.00
Z1177:Pcdh7	UTSW	5	57719664	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGGATGAAAATGACAACGCTCCCAC -3'
(R):5'- AGCTTGGGTCACCAGCTATATCCTG -3'

Sequencing Primer
(F):5'- GAAACATTTCCTACACGTTGCTG -3'
(R):5'- TCACCAGCTATATCCTGGGTGAG -3'

Posted On

2014-03-17