Mutagenetix > Incidental Mutation

Incidental Mutation 'R5777:Pcdh7'

446753

Institutional Source

Beutler Lab

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 #

R5777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57875309-58290572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57876856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 137 (N137S)

Ref Sequence

ENSEMBL: ENSMUSP00000092376 (fasta)

Gene Model

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

AlphaFold

A0A0A6YY83

Predicted Effect

probably damaging
Transcript: ENSMUST00000068110
AA Change: N137S

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

SMART Domains

Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: N137S

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 damaging
Transcript: ENSMUST00000094783
AA Change: N137S

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

SMART Domains

Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: N137S

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 damaging
Transcript: ENSMUST00000191837
AA Change: N137S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: N137S

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: ENSMUST00000192287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200266

Predicted Effect

probably benign
Transcript: ENSMUST00000195156

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Amph	A	T	13: 19,230,186 (GRCm39)	N45Y	probably damaging	Het
Atp11a	T	A	8: 12,882,522 (GRCm39)	L470Q	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,946 (GRCm39)	Y76F	possibly damaging	Het
Casp12	A	T	9: 5,354,548 (GRCm39)	I306F	probably benign	Het
Cobll1	A	T	2: 64,933,612 (GRCm39)	M460K	probably benign	Het
Col6a4	A	T	9: 105,890,895 (GRCm39)	L1800I	possibly damaging	Het
Ctdsp1	T	C	1: 74,433,227 (GRCm39)	V131A	probably damaging	Het
Ctnna3	A	G	10: 64,511,664 (GRCm39)	H618R	probably benign	Het
Dhx38	C	A	8: 110,283,534 (GRCm39)	V538L	possibly damaging	Het
Dtwd1	A	G	2: 126,001,733 (GRCm39)	D151G	probably damaging	Het
Fbxw28	A	G	9: 109,167,604 (GRCm39)	L51P	probably damaging	Het
Gm4781	C	T	10: 100,232,831 (GRCm39)		noncoding transcript	Het
Gm5134	C	A	10: 75,840,594 (GRCm39)	F479L	probably benign	Het
H2bc27	A	G	11: 58,839,835 (GRCm39)	K24E	probably benign	Het
Hexa	T	G	9: 59,468,243 (GRCm39)	V290G	probably damaging	Het
Ifi206	C	T	1: 173,308,928 (GRCm39)	R356K	possibly damaging	Het
Kcnj12	G	A	11: 60,961,277 (GRCm39)	R525Q	possibly damaging	Het
Lrp2	A	T	2: 69,285,869 (GRCm39)	I3774N	probably damaging	Het
Msh4	C	A	3: 153,569,076 (GRCm39)	M832I	probably benign	Het
Myh10	A	G	11: 68,676,685 (GRCm39)	E852G	probably damaging	Het
Ndufaf1	A	T	2: 119,490,963 (GRCm39)	C32*	probably null	Het
Nos2	A	G	11: 78,830,978 (GRCm39)	E387G	probably null	Het
Or4f58	C	T	2: 111,851,876 (GRCm39)	G108R	probably damaging	Het
Or55b10	A	G	7: 102,143,178 (GRCm39)	V268A	probably benign	Het
Or5h27	T	A	16: 59,006,266 (GRCm39)	L193F	unknown	Het
Or7a36	A	C	10: 78,820,512 (GRCm39)	D296A	possibly damaging	Het
Or7g29	A	T	9: 19,287,014 (GRCm39)	H54Q	probably benign	Het
Or8j3c	A	G	2: 86,253,669 (GRCm39)	V117A	probably benign	Het
P3h3	T	C	6: 124,832,921 (GRCm39)	T211A	probably benign	Het
Pgf	T	C	12: 85,216,148 (GRCm39)	T157A	possibly damaging	Het
Prex1	T	C	2: 166,428,579 (GRCm39)	D714G	probably damaging	Het
Scn7a	T	C	2: 66,522,913 (GRCm39)	I930M	probably damaging	Het
Siglecg	T	C	7: 43,058,837 (GRCm39)	S197P	possibly damaging	Het
Skint7	T	A	4: 111,845,289 (GRCm39)	I367N	probably benign	Het
Slfn5	A	T	11: 82,851,830 (GRCm39)	D652V	probably damaging	Het
Stx1b	G	A	7: 127,410,090 (GRCm39)	Q3*	probably null	Het
Tex35	T	C	1: 156,934,777 (GRCm39)	M46V	probably benign	Het
Tkt	A	C	14: 30,280,733 (GRCm39)	T55P	possibly damaging	Het
Trim30c	T	C	7: 104,032,538 (GRCm39)	R263G	probably benign	Het
U2af2	G	A	7: 5,069,450 (GRCm39)	R33Q	probably benign	Het
Washc4	T	A	10: 83,391,469 (GRCm39)	V182D	probably damaging	Het
Xirp2	T	C	2: 67,340,348 (GRCm39)	V863A	possibly damaging	Het
Zfp976	T	G	7: 42,263,504 (GRCm39)	H111P	probably benign	Het
Zfp982	A	T	4: 147,595,321 (GRCm39)	N48Y	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
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
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'- AGATTGACAACCTCACCGG -3'
(R):5'- TCAAACACACTGCTTCGGCC -3'

Sequencing Primer
(F):5'- GCGAGCTGAGCACCAGTG -3'
(R):5'- ACACTGCTTCGGCCACTAG -3'

Posted On

2016-12-15