Mutagenetix > Incidental Mutation

Incidental Mutation 'R3719:Pcdh7'

258815

Institutional Source

Beutler Lab

Gene Symbol

Pcdh7

Ensembl Gene

ENSMUSG00000029108

Gene Name

protocadherin 7

Synonyms

BH-protocadherin

MMRRC Submission

042001-MU

Accession Numbers

Essential gene?

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

Stock #

R3719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57875309-58290572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58286374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1150 (E1150G)

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: E1142G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: E1142G

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: E1150G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: E1150G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

97% (35/36)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	A	15: 94,259,719 (GRCm39)	R327C	probably damaging	Het
Atxn2l	G	A	7: 126,097,302 (GRCm39)	R335W	probably damaging	Het
Blk	A	G	14: 63,621,451 (GRCm39)	S93P	probably damaging	Het
Cdk11b	A	G	4: 155,711,343 (GRCm39)	D75G	probably damaging	Het
Chpf2	C	T	5: 24,795,310 (GRCm39)	Q278*	probably null	Het
Cypt14-ps	C	T	X: 38,952,128 (GRCm39)	G52E	probably damaging	Het
Defb18	A	G	1: 18,306,813 (GRCm39)	S48P	possibly damaging	Het
Dync2h1	A	G	9: 7,006,882 (GRCm39)		probably benign	Het
Ero1b	T	G	13: 12,598,493 (GRCm39)		probably null	Het
Gcn1	T	C	5: 115,717,876 (GRCm39)	S254P	probably benign	Het
Hivep1	T	C	13: 42,311,203 (GRCm39)	S1148P	probably benign	Het
Kdm3b	C	T	18: 34,941,724 (GRCm39)	A405V	probably damaging	Het
Mcm7	G	A	5: 138,164,976 (GRCm39)	Q550*	probably null	Het
Or9m1	G	A	2: 87,733,447 (GRCm39)	T191I	probably benign	Het
Pcdhac2	A	G	18: 37,279,288 (GRCm39)	Y756C	possibly damaging	Het
Pclo	A	G	5: 14,571,175 (GRCm39)	T187A	probably benign	Het
Rbms3	C	T	9: 116,411,930 (GRCm39)	V421I	probably benign	Het
Selenbp2	T	C	3: 94,606,924 (GRCm39)	F190S	probably damaging	Het
Sema6a	G	A	18: 47,382,144 (GRCm39)	T801M	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Spen	G	T	4: 141,244,494 (GRCm39)	H180Q	unknown	Het
Tenm4	A	G	7: 96,512,770 (GRCm39)	K1339R	possibly damaging	Het
Trim30a	C	A	7: 104,060,370 (GRCm39)	D469Y	probably benign	Het
Trpm3	G	A	19: 22,964,354 (GRCm39)	R1283H	possibly damaging	Het
Trpm6	A	T	19: 18,749,757 (GRCm39)	R29*	probably null	Het
Ttc17	A	G	2: 94,194,672 (GRCm39)	V567A	probably benign	Het
Vmn2r101	A	G	17: 19,809,811 (GRCm39)	Y199C	possibly damaging	Het
Vmn2r73	A	T	7: 85,519,582 (GRCm39)	Y459N	probably damaging	Het
Vmn2r79	A	G	7: 86,651,245 (GRCm39)	I215V	probably benign	Het
Wdr48	C	T	9: 119,736,197 (GRCm39)	S162F	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CATGGCTCTGTAATACACCAAATG -3'
(R):5'- CTGCACTGAAGGTCTCATAGG -3'

Sequencing Primer
(F):5'- ACACCAAATGAATATATAACTGGCTG -3'
(R):5'- CGTTCATCAACAGGCATG -3'

Posted On

2015-01-23