Mutagenetix > Incidental Mutation

Incidental Mutation 'R6335:Pcdh7'

531255

Institutional Source

Beutler Lab

Gene Symbol

Pcdh7

Ensembl Gene

ENSMUSG00000029108

Gene Name

protocadherin 7

Synonyms

BH-protocadherin

MMRRC Submission

044489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R6335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57875309-58290572 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 58099607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

A0A0A6YY83

Predicted Effect

probably null
Transcript: ENSMUST00000192048

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11a	T	C	8: 12,909,481 (GRCm39)		probably null	Het
Best3	G	T	10: 116,838,556 (GRCm39)	V205F	probably benign	Het
C1qtnf1	A	G	11: 118,338,960 (GRCm39)	H210R	probably damaging	Het
Camkv	T	C	9: 107,823,894 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,849 (GRCm39)	D1200E	possibly damaging	Het
Cep192	T	A	18: 67,967,784 (GRCm39)	I756N	probably damaging	Het
Crocc2	A	T	1: 93,130,560 (GRCm39)	Q947L	probably benign	Het
Dcaf1	A	G	9: 106,715,845 (GRCm39)	T321A	possibly damaging	Het
Dgkz	T	C	2: 91,774,724 (GRCm39)	M87V	probably benign	Het
Dmrt2	T	A	19: 25,650,935 (GRCm39)	S40R	possibly damaging	Het
Dpep1	T	G	8: 123,927,391 (GRCm39)	L315R	probably damaging	Het
Fam221b	G	T	4: 43,665,942 (GRCm39)	T223N	possibly damaging	Het
Fasn	A	T	11: 120,706,185 (GRCm39)	V1053E	probably damaging	Het
Galc	T	C	12: 98,208,973 (GRCm39)	D227G	probably damaging	Het
Grik1	A	G	16: 87,744,794 (GRCm39)	L486P	probably damaging	Het
Grik5	A	G	7: 24,713,019 (GRCm39)	S836P	probably benign	Het
Grpel2	T	C	18: 61,852,792 (GRCm39)	K70R	possibly damaging	Het
Ipo7	A	G	7: 109,617,675 (GRCm39)	D15G	possibly damaging	Het
Iqgap1	A	G	7: 80,377,772 (GRCm39)	Y1284H	probably damaging	Het
Lmo7	T	C	14: 102,138,072 (GRCm39)	S692P	probably damaging	Het
Mecom	A	G	3: 30,034,905 (GRCm39)	L447P	probably damaging	Het
Mtor	A	G	4: 148,550,384 (GRCm39)	D680G	probably damaging	Het
Muc16	T	A	9: 18,572,004 (GRCm39)	I172F	unknown	Het
Musk	A	G	4: 58,366,811 (GRCm39)	I476M	probably benign	Het
Myef2	T	C	2: 124,951,632 (GRCm39)	T268A	probably damaging	Het
Naip1	A	G	13: 100,563,060 (GRCm39)	S702P	probably damaging	Het
Napa	G	T	7: 15,849,562 (GRCm39)	S258I	probably benign	Het
Nfasc	T	A	1: 132,504,132 (GRCm39)	I1039F	probably damaging	Het
Nlrc5	A	G	8: 95,228,902 (GRCm39)	S1238G	probably benign	Het
Or10q12	T	C	19: 13,746,144 (GRCm39)	V146A	probably benign	Het
Or1j12	A	G	2: 36,342,734 (GRCm39)	I46V	probably benign	Het
Or5w8	T	A	2: 87,687,811 (GRCm39)	C97*	probably null	Het
Pacs1	G	T	19: 5,210,005 (GRCm39)	N215K	probably damaging	Het
Parp10	A	G	15: 76,126,388 (GRCm39)	S267P	probably benign	Het
Pbrm1	G	T	14: 30,806,052 (GRCm39)	C995F	probably damaging	Het
Ppef2	T	C	5: 92,383,613 (GRCm39)	Y499C	probably damaging	Het
Pramel16	G	T	4: 143,675,602 (GRCm39)	T408K	probably benign	Het
Prex2	A	C	1: 11,180,544 (GRCm39)	I370L	probably benign	Het
Ptprd	A	G	4: 75,872,420 (GRCm39)	Y1350H	probably damaging	Het
Rasgrp1	T	C	2: 117,124,351 (GRCm39)	K284E	probably damaging	Het
Rexo1	A	T	10: 80,379,915 (GRCm39)	Y23N	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sash3	C	T	X: 47,248,398 (GRCm39)	L307F	probably damaging	Homo
Scn9a	T	A	2: 66,398,608 (GRCm39)	M1L	possibly damaging	Het
Serpinb6e	C	A	13: 34,021,805 (GRCm39)	L174F	probably benign	Het
Siae	C	T	9: 37,544,277 (GRCm39)	T275I	probably benign	Het
Sptbn5	C	A	2: 119,884,900 (GRCm39)		probably benign	Het
Ss18l2	C	T	9: 121,541,672 (GRCm39)	T55I	probably damaging	Het
Taf1c	A	G	8: 120,328,518 (GRCm39)	C163R	probably damaging	Het
Tanc2	C	T	11: 105,748,382 (GRCm39)	R505W	probably damaging	Het
Tango6	C	A	8: 107,419,308 (GRCm39)	P285Q	possibly damaging	Het
Tdrd9	G	T	12: 112,008,186 (GRCm39)		probably null	Het
Tead3	A	T	17: 28,552,299 (GRCm39)	L307H	probably damaging	Het
Ticrr	A	C	7: 79,344,031 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,224,995 (GRCm39)		probably null	Het
Upb1	A	T	10: 75,264,135 (GRCm39)	T194S	probably benign	Het
Vav3	A	G	3: 109,470,512 (GRCm39)	N566S	probably benign	Het
Vmn1r196	T	A	13: 22,477,887 (GRCm39)	S175R	probably benign	Het
Zscan29	T	C	2: 120,991,917 (GRCm39)	N589D	possibly damaging	Het

Other mutations in Pcdh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Pcdh7	APN	5	57,878,806 (GRCm39)	missense	probably damaging	1.00
IGL00920:Pcdh7	APN	5	57,877,473 (GRCm39)	missense	probably damaging	0.96
IGL00990:Pcdh7	APN	5	57,877,806 (GRCm39)	missense	possibly damaging	0.94
IGL01367:Pcdh7	APN	5	58,286,566 (GRCm39)	missense	possibly damaging	0.67
IGL01388:Pcdh7	APN	5	57,877,546 (GRCm39)	missense	probably damaging	1.00
IGL01543:Pcdh7	APN	5	57,878,107 (GRCm39)	missense	probably damaging	1.00
IGL01750:Pcdh7	APN	5	57,877,764 (GRCm39)	missense	probably damaging	1.00
IGL02010:Pcdh7	APN	5	58,286,597 (GRCm39)	missense	probably benign
IGL02014:Pcdh7	APN	5	57,877,045 (GRCm39)	missense	probably benign	0.03
IGL02269:Pcdh7	APN	5	58,070,664 (GRCm39)	missense	probably damaging	1.00
IGL03051:Pcdh7	APN	5	58,286,415 (GRCm39)	missense	probably damaging	0.99
floated	UTSW	5	57,878,704 (GRCm39)	missense	probably damaging	1.00
proposed	UTSW	5	57,879,582 (GRCm39)	missense	probably damaging	0.99
P0037:Pcdh7	UTSW	5	58,070,590 (GRCm39)	missense	probably benign	0.17
R0003:Pcdh7	UTSW	5	58,070,590 (GRCm39)	missense	probably benign	0.17
R0421:Pcdh7	UTSW	5	57,877,402 (GRCm39)	missense	probably damaging	1.00
R0551:Pcdh7	UTSW	5	57,879,336 (GRCm39)	missense	probably damaging	0.99
R0562:Pcdh7	UTSW	5	57,877,405 (GRCm39)	missense	probably damaging	0.99
R0732:Pcdh7	UTSW	5	57,878,657 (GRCm39)	missense	probably damaging	1.00
R0755:Pcdh7	UTSW	5	57,877,664 (GRCm39)	missense	possibly damaging	0.86
R1080:Pcdh7	UTSW	5	57,876,768 (GRCm39)	missense	probably damaging	1.00
R1381:Pcdh7	UTSW	5	57,878,882 (GRCm39)	nonsense	probably null
R1591:Pcdh7	UTSW	5	57,877,764 (GRCm39)	missense	probably damaging	1.00
R1891:Pcdh7	UTSW	5	57,878,217 (GRCm39)	missense	probably damaging	0.98
R2011:Pcdh7	UTSW	5	57,876,971 (GRCm39)	missense	probably damaging	1.00
R2140:Pcdh7	UTSW	5	58,286,338 (GRCm39)	missense	probably damaging	1.00
R2147:Pcdh7	UTSW	5	58,286,458 (GRCm39)	missense	possibly damaging	0.51
R2848:Pcdh7	UTSW	5	57,877,618 (GRCm39)	missense	probably damaging	1.00
R2867:Pcdh7	UTSW	5	57,879,236 (GRCm39)	missense	probably damaging	1.00
R2867:Pcdh7	UTSW	5	57,879,236 (GRCm39)	missense	probably damaging	1.00
R3719:Pcdh7	UTSW	5	58,286,374 (GRCm39)	missense	probably damaging	1.00
R4075:Pcdh7	UTSW	5	57,879,150 (GRCm39)	missense	probably damaging	1.00
R4231:Pcdh7	UTSW	5	57,876,631 (GRCm39)	missense	possibly damaging	0.94
R4236:Pcdh7	UTSW	5	57,876,631 (GRCm39)	missense	possibly damaging	0.94
R4352:Pcdh7	UTSW	5	57,879,361 (GRCm39)	missense	possibly damaging	0.88
R4420:Pcdh7	UTSW	5	58,286,512 (GRCm39)	missense	probably benign	0.03
R4449:Pcdh7	UTSW	5	57,877,827 (GRCm39)	missense	probably damaging	1.00
R4584:Pcdh7	UTSW	5	57,878,625 (GRCm39)	missense	probably damaging	1.00
R4686:Pcdh7	UTSW	5	58,286,511 (GRCm39)	missense	probably benign
R4837:Pcdh7	UTSW	5	57,877,753 (GRCm39)	missense	possibly damaging	0.89
R4838:Pcdh7	UTSW	5	57,878,146 (GRCm39)	missense	probably damaging	1.00
R4947:Pcdh7	UTSW	5	57,879,258 (GRCm39)	missense	probably damaging	0.98
R5053:Pcdh7	UTSW	5	57,878,943 (GRCm39)	missense	probably damaging	0.99
R5068:Pcdh7	UTSW	5	57,879,508 (GRCm39)	missense	probably damaging	1.00
R5117:Pcdh7	UTSW	5	57,879,090 (GRCm39)	missense	probably benign	0.09
R5132:Pcdh7	UTSW	5	57,885,463 (GRCm39)	missense	probably benign
R5248:Pcdh7	UTSW	5	58,286,515 (GRCm39)	missense	probably damaging	0.97
R5294:Pcdh7	UTSW	5	57,885,453 (GRCm39)	splice site	probably null
R5420:Pcdh7	UTSW	5	57,877,529 (GRCm39)	missense	probably damaging	1.00
R5777:Pcdh7	UTSW	5	57,876,856 (GRCm39)	missense	probably damaging	1.00
R5800:Pcdh7	UTSW	5	57,879,567 (GRCm39)	missense	probably damaging	1.00
R5834:Pcdh7	UTSW	5	57,878,970 (GRCm39)	missense	possibly damaging	0.90
R5870:Pcdh7	UTSW	5	57,877,753 (GRCm39)	missense	possibly damaging	0.89
R5917:Pcdh7	UTSW	5	57,879,097 (GRCm39)	missense	probably damaging	0.96
R6014:Pcdh7	UTSW	5	57,878,497 (GRCm39)	missense	probably damaging	0.99
R6193:Pcdh7	UTSW	5	57,877,666 (GRCm39)	missense	probably damaging	1.00
R6240:Pcdh7	UTSW	5	57,878,704 (GRCm39)	missense	probably damaging	1.00
R6418:Pcdh7	UTSW	5	57,879,046 (GRCm39)	missense	probably damaging	1.00
R6907:Pcdh7	UTSW	5	57,876,471 (GRCm39)	missense	possibly damaging	0.53
R7058:Pcdh7	UTSW	5	57,879,582 (GRCm39)	missense	probably damaging	0.99
R7069:Pcdh7	UTSW	5	57,877,126 (GRCm39)	missense	probably benign	0.00
R7073:Pcdh7	UTSW	5	57,878,299 (GRCm39)	missense	probably benign	0.19
R7463:Pcdh7	UTSW	5	57,878,340 (GRCm39)	missense	probably benign	0.06
R7509:Pcdh7	UTSW	5	57,877,529 (GRCm39)	missense	probably damaging	1.00
R7588:Pcdh7	UTSW	5	57,877,246 (GRCm39)	missense	probably damaging	1.00
R7707:Pcdh7	UTSW	5	57,877,672 (GRCm39)	missense	probably damaging	0.99
R7734:Pcdh7	UTSW	5	57,876,976 (GRCm39)	missense	probably damaging	0.99
R7899:Pcdh7	UTSW	5	57,877,152 (GRCm39)	missense	probably benign
R8194:Pcdh7	UTSW	5	57,877,678 (GRCm39)	missense	probably damaging	1.00
R8480:Pcdh7	UTSW	5	58,286,407 (GRCm39)	missense	probably damaging	1.00
R8890:Pcdh7	UTSW	5	57,876,717 (GRCm39)	missense	probably damaging	1.00
R8906:Pcdh7	UTSW	5	57,879,154 (GRCm39)	missense	probably damaging	1.00
R8990:Pcdh7	UTSW	5	57,879,364 (GRCm39)	missense	probably benign	0.06
R9264:Pcdh7	UTSW	5	58,286,663 (GRCm39)	missense	probably benign	0.09
R9272:Pcdh7	UTSW	5	57,878,779 (GRCm39)	missense	possibly damaging	0.81
R9294:Pcdh7	UTSW	5	57,878,677 (GRCm39)	missense	probably benign	0.39
R9518:Pcdh7	UTSW	5	58,070,513 (GRCm39)	missense	possibly damaging	0.81
R9597:Pcdh7	UTSW	5	57,877,197 (GRCm39)	missense	possibly damaging	0.68
R9642:Pcdh7	UTSW	5	57,876,717 (GRCm39)	missense	probably damaging	1.00
R9745:Pcdh7	UTSW	5	57,879,622 (GRCm39)	critical splice donor site	probably null
X0021:Pcdh7	UTSW	5	57,878,826 (GRCm39)	missense	possibly damaging	0.95
X0026:Pcdh7	UTSW	5	57,876,721 (GRCm39)	missense	probably damaging	1.00
Z1177:Pcdh7	UTSW	5	57,877,006 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GTAGAACCTACGCTTTGGACC -3'
(R):5'- GCATTCAAGGGGAAAAGTTCTAC -3'

Sequencing Primer
(F):5'- TTTGTTGACAGAGACTTGATGGACAC -3'
(R):5'- TCAAGGGGAAAAGTTCTACAAATTG -3'

Posted On

2018-08-17