Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02269:Pcdh7'

287053

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: 0.141) question?

Stock #

IGL02269

Quality Score

Status

Chromosome

Chromosomal Location

57875309-58290572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58070664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 1114 (E1114A)

Ref Sequence

ENSEMBL: ENSMUSP00000142319 (fasta)

Gene Model

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

AlphaFold

A0A0A6YY83

Predicted Effect

unknown
Transcript: ENSMUST00000094783
AA Change: E1114A

SMART Domains

Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: E1114A

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: E1114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: E1114A

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

unknown
Transcript: ENSMUST00000192048
AA Change: E79A

Predicted Effect

unknown
Transcript: ENSMUST00000192287
AA Change: E774A

Predicted Effect

probably benign
Transcript: ENSMUST00000195156

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199310
AA Change: E138A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143387
Gene: ENSMUSG00000029108
AA Change: E138A

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,833,425 (GRCm39)	V59A	unknown	Het
A2ml1	C	A	6: 128,530,301 (GRCm39)		probably benign	Het
Akap13	G	A	7: 75,252,659 (GRCm39)	R263H	probably benign	Het
B3galt5	A	G	16: 96,116,730 (GRCm39)	D121G	possibly damaging	Het
Becn1	A	G	11: 101,182,361 (GRCm39)		probably benign	Het
Carmil1	A	T	13: 24,339,393 (GRCm39)	L150*	probably null	Het
Cep170	A	T	1: 176,596,932 (GRCm39)	M475K	probably benign	Het
Cyp24a1	C	T	2: 170,338,492 (GRCm39)	G68D	probably damaging	Het
Cyp3a44	A	T	5: 145,742,547 (GRCm39)	I18N	probably benign	Het
Dmrt2	T	C	19: 25,655,823 (GRCm39)	V474A	probably benign	Het
Dtnb	A	G	12: 3,646,691 (GRCm39)	D64G	probably damaging	Het
Epb41l3	T	C	17: 69,554,568 (GRCm39)	S223P	probably damaging	Het
Ephb2	A	G	4: 136,498,360 (GRCm39)	Y240H	possibly damaging	Het
Extl3	T	C	14: 65,315,032 (GRCm39)	Y50C	probably damaging	Het
Fat3	A	C	9: 15,826,873 (GRCm39)	S4360A	possibly damaging	Het
Fbxo9	A	T	9: 77,994,835 (GRCm39)	V230E	probably damaging	Het
Frmd4a	T	C	2: 4,609,045 (GRCm39)	M971T	probably benign	Het
Gm7275	A	G	16: 47,894,185 (GRCm39)		noncoding transcript	Het
Hyal6	C	T	6: 24,740,858 (GRCm39)	T337I	probably damaging	Het
Obsl1	C	T	1: 75,464,357 (GRCm39)	V1650M	probably damaging	Het
Or1j13	A	T	2: 36,369,579 (GRCm39)	S188T	possibly damaging	Het
Or52z14	T	A	7: 103,253,089 (GRCm39)	I76N	probably damaging	Het
Or7e169	A	T	9: 19,757,024 (GRCm39)	I297N	possibly damaging	Het
Or8c8	A	T	9: 38,165,232 (GRCm39)	D173V	possibly damaging	Het
Pde8a	C	T	7: 80,958,550 (GRCm39)		probably benign	Het
Pdzrn4	A	T	15: 92,667,731 (GRCm39)	S628C	probably damaging	Het
Pear1	C	T	3: 87,663,571 (GRCm39)	G376S	probably damaging	Het
Plekha6	C	T	1: 133,215,587 (GRCm39)	T644M	possibly damaging	Het
Plpp1	T	A	13: 112,993,526 (GRCm39)	C153S	probably damaging	Het
Ptpn3	G	A	4: 57,197,510 (GRCm39)	T793M	possibly damaging	Het
Rdh13	A	T	7: 4,448,497 (GRCm39)	L5Q	possibly damaging	Het
Rimbp2	G	T	5: 128,851,359 (GRCm39)	D862E	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Scamp1	C	T	13: 94,368,694 (GRCm39)		probably benign	Het
Scamp3	A	G	3: 89,088,041 (GRCm39)	T178A	probably benign	Het
Sh3tc1	A	G	5: 35,863,628 (GRCm39)	V853A	probably benign	Het
Snrnp200	C	T	2: 127,071,911 (GRCm39)	T1197M	possibly damaging	Het
Sult3a1	T	C	10: 33,755,259 (GRCm39)	F275L	probably benign	Het
Tenm4	A	T	7: 96,473,029 (GRCm39)	I905F	probably damaging	Het
Tgm3	T	A	2: 129,866,438 (GRCm39)	S119T	probably benign	Het
Tmem131l	A	T	3: 83,845,357 (GRCm39)	D424E	possibly damaging	Het
Tmem45b	G	T	9: 31,339,279 (GRCm39)	C145*	probably null	Het
Unc5c	G	A	3: 141,494,743 (GRCm39)	R352H	probably damaging	Het
Vmn2r12	A	G	5: 109,234,343 (GRCm39)	L623P	probably damaging	Het
Vmn2r68	T	C	7: 84,870,947 (GRCm39)	M779V	possibly damaging	Het
Zfhx2	T	C	14: 55,309,393 (GRCm39)	N902S	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
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
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

2015-04-16