Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Pcdh7'

320837

Institutional Source

Beutler Lab

Gene Symbol

Pcdh7

Ensembl Gene

ENSMUSG00000029108

Gene Name

protocadherin 7

Synonyms

BH-protocadherin

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R4231 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

57717967-58133230 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57719289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 62 (G62D)

Ref Sequence

ENSEMBL: ENSMUSP00000092376 (fasta)

Gene Model

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

AlphaFold

A0A0A6YY83

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068110
AA Change: G62D

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066306
Gene: ENSMUSG00000029108
AA Change: G62D

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

possibly damaging
Transcript: ENSMUST00000094783
AA Change: G62D

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092376
Gene: ENSMUSG00000029108
AA Change: G62D

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

possibly damaging
Transcript: ENSMUST00000191837
AA Change: G62D

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142319
Gene: ENSMUSG00000029108
AA Change: G62D

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

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

Meta Mutation Damage Score

0.1624

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Pcdh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Pcdh7	APN	5	57721464	missense	probably damaging	1.00
IGL00920:Pcdh7	APN	5	57720131	missense	probably damaging	0.96
IGL00990:Pcdh7	APN	5	57720464	missense	possibly damaging	0.94
IGL01367:Pcdh7	APN	5	58129224	missense	possibly damaging	0.67
IGL01388:Pcdh7	APN	5	57720204	missense	probably damaging	1.00
IGL01543:Pcdh7	APN	5	57720765	missense	probably damaging	1.00
IGL01750:Pcdh7	APN	5	57720422	missense	probably damaging	1.00
IGL02010:Pcdh7	APN	5	58129255	missense	probably benign
IGL02014:Pcdh7	APN	5	57719703	missense	probably benign	0.03
IGL02269:Pcdh7	APN	5	57913322	missense	probably damaging	1.00
IGL03051:Pcdh7	APN	5	58129073	missense	probably damaging	0.99
floated	UTSW	5	57721362	missense	probably damaging	1.00
proposed	UTSW	5	57722240	missense	probably damaging	0.99
P0037:Pcdh7	UTSW	5	57913248	missense	probably benign	0.17
R0003:Pcdh7	UTSW	5	57913248	missense	probably benign	0.17
R0421:Pcdh7	UTSW	5	57720060	missense	probably damaging	1.00
R0551:Pcdh7	UTSW	5	57721994	missense	probably damaging	0.99
R0562:Pcdh7	UTSW	5	57720063	missense	probably damaging	0.99
R0732:Pcdh7	UTSW	5	57721315	missense	probably damaging	1.00
R0755:Pcdh7	UTSW	5	57720322	missense	possibly damaging	0.86
R1080:Pcdh7	UTSW	5	57719426	missense	probably damaging	1.00
R1381:Pcdh7	UTSW	5	57721540	nonsense	probably null
R1591:Pcdh7	UTSW	5	57720422	missense	probably damaging	1.00
R1891:Pcdh7	UTSW	5	57720875	missense	probably damaging	0.98
R2011:Pcdh7	UTSW	5	57719629	missense	probably damaging	1.00
R2140:Pcdh7	UTSW	5	58128996	missense	probably damaging	1.00
R2147:Pcdh7	UTSW	5	58129116	missense	possibly damaging	0.51
R2848:Pcdh7	UTSW	5	57720276	missense	probably damaging	1.00
R2867:Pcdh7	UTSW	5	57721894	missense	probably damaging	1.00
R2867:Pcdh7	UTSW	5	57721894	missense	probably damaging	1.00
R3719:Pcdh7	UTSW	5	58129032	missense	probably damaging	1.00
R4075:Pcdh7	UTSW	5	57721808	missense	probably damaging	1.00
R4236:Pcdh7	UTSW	5	57719289	missense	possibly damaging	0.94
R4352:Pcdh7	UTSW	5	57722019	missense	possibly damaging	0.88
R4420:Pcdh7	UTSW	5	58129170	missense	probably benign	0.03
R4449:Pcdh7	UTSW	5	57720485	missense	probably damaging	1.00
R4584:Pcdh7	UTSW	5	57721283	missense	probably damaging	1.00
R4686:Pcdh7	UTSW	5	58129169	missense	probably benign
R4837:Pcdh7	UTSW	5	57720411	missense	possibly damaging	0.89
R4838:Pcdh7	UTSW	5	57720804	missense	probably damaging	1.00
R4947:Pcdh7	UTSW	5	57721916	missense	probably damaging	0.98
R5053:Pcdh7	UTSW	5	57721601	missense	probably damaging	0.99
R5068:Pcdh7	UTSW	5	57722166	missense	probably damaging	1.00
R5117:Pcdh7	UTSW	5	57721748	missense	probably benign	0.09
R5132:Pcdh7	UTSW	5	57728121	missense	probably benign
R5248:Pcdh7	UTSW	5	58129173	missense	probably damaging	0.97
R5294:Pcdh7	UTSW	5	57728111	splice site	probably null
R5420:Pcdh7	UTSW	5	57720187	missense	probably damaging	1.00
R5777:Pcdh7	UTSW	5	57719514	missense	probably damaging	1.00
R5800:Pcdh7	UTSW	5	57722225	missense	probably damaging	1.00
R5834:Pcdh7	UTSW	5	57721628	missense	possibly damaging	0.90
R5870:Pcdh7	UTSW	5	57720411	missense	possibly damaging	0.89
R5917:Pcdh7	UTSW	5	57721755	missense	probably damaging	0.96
R6014:Pcdh7	UTSW	5	57721155	missense	probably damaging	0.99
R6193:Pcdh7	UTSW	5	57720324	missense	probably damaging	1.00
R6240:Pcdh7	UTSW	5	57721362	missense	probably damaging	1.00
R6335:Pcdh7	UTSW	5	57942265	splice site	probably null
R6418:Pcdh7	UTSW	5	57721704	missense	probably damaging	1.00
R6907:Pcdh7	UTSW	5	57719129	missense	possibly damaging	0.53
R7058:Pcdh7	UTSW	5	57722240	missense	probably damaging	0.99
R7069:Pcdh7	UTSW	5	57719784	missense	probably benign	0.00
R7073:Pcdh7	UTSW	5	57720957	missense	probably benign	0.19
R7463:Pcdh7	UTSW	5	57720998	missense	probably benign	0.06
R7509:Pcdh7	UTSW	5	57720187	missense	probably damaging	1.00
R7588:Pcdh7	UTSW	5	57719904	missense	probably damaging	1.00
R7707:Pcdh7	UTSW	5	57720330	missense	probably damaging	0.99
R7734:Pcdh7	UTSW	5	57719634	missense	probably damaging	0.99
R7899:Pcdh7	UTSW	5	57719810	missense	probably benign
R8194:Pcdh7	UTSW	5	57720336	missense	probably damaging	1.00
R8480:Pcdh7	UTSW	5	58129065	missense	probably damaging	1.00
R8890:Pcdh7	UTSW	5	57719375	missense	probably damaging	1.00
R8906:Pcdh7	UTSW	5	57721812	missense	probably damaging	1.00
R8990:Pcdh7	UTSW	5	57722022	missense	probably benign	0.06
R9264:Pcdh7	UTSW	5	58129321	missense	probably benign	0.09
R9272:Pcdh7	UTSW	5	57721437	missense	possibly damaging	0.81
R9294:Pcdh7	UTSW	5	57721335	missense	probably benign	0.39
X0021:Pcdh7	UTSW	5	57721484	missense	possibly damaging	0.95
X0026:Pcdh7	UTSW	5	57719379	missense	probably damaging	1.00
Z1177:Pcdh7	UTSW	5	57719664	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TTCTTCCTTTCCCGGAGAGGAG -3'
(R):5'- TGATGTCCAGCACGATGACC -3'

Sequencing Primer
(F):5'- ATGCTGAGGATGCGGACCAC -3'
(R):5'- AGCTCTGTGAGGGCCCTATC -3'

Posted On

2015-06-12