Mutagenetix > Incidental Mutation

Incidental Mutation 'R4420:Pcdh7'

327040

Institutional Source

Beutler Lab

Gene Symbol

Pcdh7

Ensembl Gene

ENSMUSG00000029108

Gene Name

protocadherin 7

Synonyms

BH-protocadherin

MMRRC Submission

041141-MU

Accession Numbers

Essential gene?

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

Stock #

R4420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57875309-58290572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58286512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1196 (I1196T)

Ref Sequence

ENSEMBL: ENSMUSP00000142319 (fasta)

Gene Model

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

AlphaFold

A0A0A6YY83

Predicted Effect

probably benign
Transcript: ENSMUST00000094783
AA Change: I1188T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: I1188T

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: ENSMUST00000191837
AA Change: I1196T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: I1196T

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (53/55)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef17	G	A	7: 100,531,515 (GRCm39)		probably benign	Het
Atp1b1	T	C	1: 164,281,127 (GRCm39)	T53A	probably damaging	Het
Carmil3	A	G	14: 55,731,045 (GRCm39)	Q104R	probably damaging	Het
Casz1	T	G	4: 149,033,375 (GRCm39)	N1382K	possibly damaging	Het
Chfr	T	A	5: 110,318,746 (GRCm39)	C585*	probably null	Het
Chp2	T	C	7: 121,821,161 (GRCm39)	F174S	probably damaging	Het
Dclre1c	A	T	2: 3,434,782 (GRCm39)		probably null	Het
Dnah6	A	G	6: 73,168,462 (GRCm39)	V487A	probably benign	Het
Dnah9	T	C	11: 66,009,575 (GRCm39)	R771G	probably benign	Het
Duox1	G	A	2: 122,157,607 (GRCm39)	A578T	probably benign	Het
Elp3	G	A	14: 65,818,240 (GRCm39)	A140V	probably damaging	Het
Fbrsl1	T	C	5: 110,526,852 (GRCm39)	H387R	possibly damaging	Het
Gnat3	T	C	5: 18,204,799 (GRCm39)	S151P	probably damaging	Het
Gucy1a2	T	A	9: 3,634,640 (GRCm39)	L228H	probably damaging	Het
Gzmn	A	T	14: 56,403,463 (GRCm39)	H215Q	probably benign	Het
Heg1	A	T	16: 33,547,805 (GRCm39)	E864V	probably benign	Het
Hoxb9	T	C	11: 96,162,807 (GRCm39)	V147A	probably benign	Het
Hsf5	T	G	11: 87,548,130 (GRCm39)	H604Q	probably benign	Het
Hus1	T	C	11: 8,950,133 (GRCm39)	E196G	probably damaging	Het
Il12rb2	G	T	6: 67,293,394 (GRCm39)		probably null	Het
Irs1	T	C	1: 82,266,171 (GRCm39)	S682G	possibly damaging	Het
Jcad	T	C	18: 4,676,032 (GRCm39)	S1265P	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Matk	A	G	10: 81,098,291 (GRCm39)	S361G	possibly damaging	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Nceh1	A	G	3: 27,295,798 (GRCm39)	D353G	probably damaging	Het
Nqo1	C	T	8: 108,118,749 (GRCm39)		probably null	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Pla2g4d	A	G	2: 120,114,644 (GRCm39)	V29A	probably benign	Het
Ppfibp1	T	A	6: 146,927,736 (GRCm39)	Y794*	probably null	Het
Prdx5	C	A	19: 6,885,332 (GRCm39)		probably null	Het
Psme4	C	T	11: 30,762,028 (GRCm39)	T456I	possibly damaging	Het
Ptprd	A	T	4: 75,957,614 (GRCm39)	S923R	possibly damaging	Het
Samd12	G	A	15: 53,723,655 (GRCm39)	R13W	probably damaging	Het
Slc35f4	A	T	14: 49,551,034 (GRCm39)		probably benign	Het
Smc1b	A	G	15: 84,997,031 (GRCm39)	Y530H	probably damaging	Het
Spata2l	T	C	8: 123,960,768 (GRCm39)	T174A	possibly damaging	Het
Sugct	C	T	13: 17,627,130 (GRCm39)	C241Y	probably damaging	Het
Tarbp1	G	T	8: 127,173,819 (GRCm39)	A965D	possibly damaging	Het
Tas1r3	A	G	4: 155,946,789 (GRCm39)	V272A	probably damaging	Het
Tas2r117	T	A	6: 132,780,312 (GRCm39)	L150*	probably null	Het
Trip10	C	T	17: 57,562,448 (GRCm39)	P322L	probably benign	Het
Wdfy3	A	C	5: 102,058,850 (GRCm39)	H1487Q	probably damaging	Het
Wdr95	G	A	5: 149,456,131 (GRCm39)	V8M	probably damaging	Het
Zc3h15	C	A	2: 83,488,356 (GRCm39)	A98E	probably damaging	Het
Zfp763	T	G	17: 33,237,455 (GRCm39)	K563N	probably benign	Het
Zmym2	G	A	14: 57,194,335 (GRCm39)	D1198N	probably damaging	Het
Zp1	C	T	19: 10,892,124 (GRCm39)		probably null	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
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'- TCAGATTCAAGGCCTCTTCCG -3'
(R):5'- GCTGTTGCTCCTTGACAACC -3'

Sequencing Primer
(F):5'- ATTCAAGGCCTCTTCCGGATGTAG -3'
(R):5'- GTTGCTCCTTGACAACCTACAG -3'

Posted On

2015-07-07