Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03051:Pcdh7'

409069

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdh7

Ensembl Gene

ENSMUSG00000029108

Gene Name

protocadherin 7

Synonyms

BH-protocadherin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL03051

Quality Score

Status

Chromosome

Chromosomal Location

57875309-58290572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58286415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1164 (S1164A)

Ref Sequence

ENSEMBL: ENSMUSP00000142319 (fasta)

Gene Model

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

AlphaFold

A0A0A6YY83

Predicted Effect

probably damaging
Transcript: ENSMUST00000094783
AA Change: S1156A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: S1156A

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 damaging
Transcript: ENSMUST00000191837
AA Change: S1164A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: S1164A

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 benign
Transcript: ENSMUST00000195156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200369

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,964,283 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,128 (GRCm39)	F76I	possibly damaging	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akap13	T	A	7: 75,260,233 (GRCm39)	C149*	probably null	Het
Appbp2	A	T	11: 85,082,565 (GRCm39)	D555E	possibly damaging	Het
Arhgap25	T	C	6: 87,472,896 (GRCm39)	Q87R	probably null	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
Ccn4	T	A	15: 66,778,399 (GRCm39)	C73*	probably null	Het
Ces5a	C	A	8: 94,255,226 (GRCm39)	G156C	probably damaging	Het
Chtf18	G	A	17: 25,939,938 (GRCm39)	R723W	probably damaging	Het
Clec4e	A	G	6: 123,266,692 (GRCm39)	S6P	probably benign	Het
Dennd4a	A	G	9: 64,769,696 (GRCm39)	I468V	probably damaging	Het
Epb41l4a	A	T	18: 34,007,825 (GRCm39)	Y233N	probably damaging	Het
Fam210b	C	T	2: 172,194,612 (GRCm39)	H155Y	probably benign	Het
Frmd4b	A	T	6: 97,272,943 (GRCm39)	C770*	probably null	Het
Gpa33	A	G	1: 165,992,790 (GRCm39)	H301R	probably benign	Het
Gpr39	T	A	1: 125,605,485 (GRCm39)	C138S	probably damaging	Het
Gtf2i	T	A	5: 134,271,768 (GRCm39)	K858*	probably null	Het
Ighv7-1	A	T	12: 113,860,576 (GRCm39)		probably benign	Het
Iglv1	T	C	16: 18,903,973 (GRCm39)	T49A	possibly damaging	Het
Kif17	A	C	4: 138,016,565 (GRCm39)	D416A	probably damaging	Het
Mib2	T	C	4: 155,741,747 (GRCm39)	T431A	probably damaging	Het
Mpz	G	A	1: 170,986,380 (GRCm39)	R98H	probably damaging	Het
Naa16	T	C	14: 79,606,522 (GRCm39)	E337G	probably benign	Het
Odam	G	A	5: 88,040,335 (GRCm39)		probably benign	Het
Or1e1f	T	A	11: 73,855,860 (GRCm39)	L142H	probably benign	Het
Parp2	T	C	14: 51,056,805 (GRCm39)		probably benign	Het
Pkp4	G	T	2: 59,142,106 (GRCm39)	A470S	probably benign	Het
Plin4	A	T	17: 56,412,417 (GRCm39)	M538K	possibly damaging	Het
Prex2	T	C	1: 11,212,889 (GRCm39)	V624A	probably damaging	Het
Rps6ka5	A	C	12: 100,582,250 (GRCm39)		probably null	Het
Simc1	T	C	13: 54,674,036 (GRCm39)	S795P	probably benign	Het
Slc35b4	A	T	6: 34,137,406 (GRCm39)		probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt14	T	C	1: 192,615,528 (GRCm39)	N486S	probably benign	Het
Trim59	T	C	3: 68,944,206 (GRCm39)	N378S	probably benign	Het
Wdr17	T	A	8: 55,104,349 (GRCm39)	D908V	probably damaging	Het
Wdr74	A	G	19: 8,716,875 (GRCm39)		probably benign	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
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
R6335:Pcdh7	UTSW	5	58,099,607 (GRCm39)	splice site	probably null
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

Posted On

2016-08-02