Mutagenetix > Incidental Mutations

Incidental Mutation 'R7265:Pcdhga7'

564905

Institutional Source

Beutler Lab

Gene Symbol

Pcdhga7

Ensembl Gene

ENSMUSG00000103472

Gene Name

protocadherin gamma subfamily A, 7

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R7265 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37714764-37841873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37716916 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 659 (T659A)

Ref Sequence

ENSEMBL: ENSMUSP00000141704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193476] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112] [ENSMUST00000195363] [ENSMUST00000195823]

Predicted Effect

probably benign
Transcript: ENSMUST00000073447

SMART Domains

Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	42	128	2.15e-2	SMART
CA	152	237	4.8e-13	SMART
CA	261	342	9.36e-25	SMART
CA	366	447	6.62e-25	SMART
CA	471	557	6.72e-26	SMART
CA	588	666	2.15e-15	SMART
Pfam:Cadherin_C_2	685	768	4.8e-24	PFAM
Pfam:Cadherin_tail	805	928	8.1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192511
AA Change: T659A

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

SMART Domains

Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: T659A

Domain	Start	End	E-Value	Type
CA	47	133	1.57e-2	SMART
CA	157	242	3.24e-19	SMART
CA	266	347	3.21e-23	SMART
CA	371	452	9.08e-23	SMART
CA	476	562	1.32e-24	SMART
CA	593	671	3.5e-15	SMART
transmembrane domain	694	716	N/A	INTRINSIC
low complexity region	916	935	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192931

SMART Domains

Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037

Domain	Start	End	E-Value	Type
CA	36	119	8e-3	SMART
CA	143	228	1.34e-20	SMART
CA	252	333	1.52e-24	SMART
CA	357	438	9.22e-24	SMART
CA	462	548	1.24e-24	SMART
CA	579	660	1.3e-9	SMART
transmembrane domain	679	701	N/A	INTRINSIC
low complexity region	899	918	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193414

SMART Domains

Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567

Domain	Start	End	E-Value	Type
CA	45	131	2.45e-1	SMART
CA	155	240	1.05e-18	SMART
CA	264	345	6.52e-24	SMART
CA	369	450	5.99e-23	SMART
CA	474	560	6.99e-24	SMART
CA	591	669	5.31e-15	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	913	932	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000193476
AA Change: T659A

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

SMART Domains

Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472
AA Change: T659A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
CA	47	133	7.6e-5	SMART
CA	157	242	1.6e-21	SMART
CA	266	347	1.6e-25	SMART
CA	371	452	4.5e-25	SMART
CA	476	562	6.6e-27	SMART
CA	593	671	1.7e-17	SMART
transmembrane domain	694	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193869

SMART Domains

Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	45	131	1.64e-2	SMART
CA	155	240	6.42e-23	SMART
CA	264	345	1.76e-20	SMART
CA	369	450	2.27e-23	SMART
CA	474	560	1.5e-23	SMART
CA	591	669	1.17e-16	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	912	931	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194190

SMART Domains

Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	31	131	3.16e-2	SMART
CA	155	240	5.39e-16	SMART
CA	264	345	6.72e-26	SMART
CA	369	450	1.32e-24	SMART
CA	474	560	4.17e-22	SMART
CA	591	669	4.48e-13	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	912	931	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194418

SMART Domains

Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677

Domain	Start	End	E-Value	Type
CA	44	130	1.64e-2	SMART
CA	154	239	3.93e-18	SMART
CA	263	344	5.22e-23	SMART
CA	368	449	5.02e-25	SMART
CA	473	559	2.07e-26	SMART
CA	590	668	6.84e-18	SMART
transmembrane domain	690	712	N/A	INTRINSIC
low complexity region	911	930	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000195112

SMART Domains

Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748

Domain	Start	End	E-Value	Type
CA	24	130	8.18e-3	SMART
CA	154	239	1.39e-18	SMART
CA	263	344	7.91e-23	SMART
CA	368	449	2.27e-23	SMART
CA	473	559	1.24e-24	SMART
CA	590	671	1.3e-9	SMART
transmembrane domain	690	712	N/A	INTRINSIC
low complexity region	909	928	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195363

SMART Domains

Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585

Domain	Start	End	E-Value	Type
low complexity region	17	25	N/A	INTRINSIC
CA	56	131	1.47e-2	SMART
CA	155	240	1.23e-19	SMART
CA	264	343	5.54e-27	SMART
CA	367	448	5.09e-26	SMART
CA	472	558	1.98e-23	SMART
CA	589	670	1.3e-9	SMART
transmembrane domain	689	711	N/A	INTRINSIC
low complexity region	893	912	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195823

SMART Domains

Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
CA	45	131	2.41e-2	SMART
CA	155	240	5.77e-16	SMART
CA	264	345	1.1e-21	SMART
CA	369	450	2.75e-22	SMART
low complexity region	453	462	N/A	INTRINSIC
CA	474	560	9.22e-24	SMART
CA	591	669	2.4e-13	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	913	932	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	A	17: 33,066,997	T277I	probably damaging	Het
9330182L06Rik	T	C	5: 9,446,975	V813A	possibly damaging	Het
Asb3	A	G	11: 30,998,495	E57G	probably benign	Het
B3glct	A	G	5: 149,709,320	D45G	probably benign	Het
BC034090	C	A	1: 155,225,327	C397F	probably damaging	Het
Bicd1	A	G	6: 149,513,876	K696E	probably damaging	Het
Btnl4	C	T	17: 34,475,894	C15Y	probably benign	Het
Cabin1	T	C	10: 75,721,423	N300S		Het
Chia1	T	A	3: 106,128,923	L273Q	probably damaging	Het
Coq2	A	G	5: 100,660,270	S222P	possibly damaging	Het
Dgkb	T	C	12: 38,184,932	V432A	possibly damaging	Het
Dpp3	A	G	19: 4,923,769	F92S	probably damaging	Het
Emcn	T	C	3: 137,417,078	S183P	probably damaging	Het
Emcn	T	A	3: 137,419,076	W217R	probably damaging	Het
Enpp2	A	C	15: 54,910,033		probably null	Het
Epb41	T	C	4: 131,967,834	E14G	unknown	Het
Fam160a2	G	T	7: 105,384,225	R609S	probably benign	Het
Grk4	A	G	5: 34,716,264	R225G	probably damaging	Het
Insl6	A	T	19: 29,321,545	W156R	possibly damaging	Het
Ints3	A	T	3: 90,403,983		probably null	Het
Jarid2	G	A	13: 44,902,272	G318D	probably benign	Het
Kif16b	A	T	2: 142,714,730	L596H	probably damaging	Het
Lctl	T	A	9: 64,126,921	Y281N	probably damaging	Het
Letm1	A	T	5: 33,778,648	C34S	possibly damaging	Het
Lrrc32	T	C	7: 98,499,437	S475P	probably damaging	Het
Lrrc37a	T	A	11: 103,498,941	D1886V	probably benign	Het
Macf1	A	T	4: 123,407,877	I944K	probably benign	Het
Mark4	T	C	7: 19,451,725	D28G	probably benign	Het
Mecom	C	A	3: 29,980,133	A465S	possibly damaging	Het
Muc16	A	G	9: 18,656,472	S1584P	unknown	Het
Mycbp2	A	G	14: 103,197,243		probably null	Het
Myo18b	G	A	5: 112,812,072	R1372W	probably damaging	Het
Myo1c	T	C	11: 75,669,790	I706T	possibly damaging	Het
Myo1g	T	C	11: 6,510,933	T704A	possibly damaging	Het
Nwd1	A	G	8: 72,692,928	K914E	probably benign	Het
Olfr1056	C	T	2: 86,355,744	V213I	probably benign	Het
Olfr202	T	A	16: 59,283,924	D191V	probably damaging	Het
Olfr888	A	T	9: 38,108,931	I77L	possibly damaging	Het
Otub2	C	T	12: 103,400,221	S99L	probably damaging	Het
Pak7	G	A	2: 136,101,185	S345L	probably benign	Het
Pcdhb20	A	T	18: 37,505,563	I381F	possibly damaging	Het
Pik3c2a	T	A	7: 116,388,086	K533N	probably damaging	Het
Pkd1l1	T	A	11: 8,929,402	Q933L		Het
Ppp4r3a	A	T	12: 101,053,511	M395K	possibly damaging	Het
Pramef6	C	A	4: 143,895,421	V455L	probably benign	Het
Ptpn20	A	G	14: 33,614,524	T107A	probably benign	Het
Scaf8	T	A	17: 3,177,625	D376E	unknown	Het
Scn11a	C	A	9: 119,815,265	C143F	probably damaging	Het
Sctr	G	A	1: 120,022,225	R48Q	probably benign	Het
Sec13	A	T	6: 113,735,136	Y79*	probably null	Het
Sez6	T	A	11: 77,962,865	I287N	probably damaging	Het
Slc52a3	T	A	2: 152,004,416	I99K	possibly damaging	Het
Slco4c1	T	G	1: 96,871,793	H106P	probably damaging	Het
Tada2b	A	G	5: 36,476,608	Y209H	probably damaging	Het
Tas1r2	T	A	4: 139,669,652	D796E	probably benign	Het
Tdrd12	A	T	7: 35,487,722	M581K		Het
Thnsl1	A	G	2: 21,212,458	E341G	probably damaging	Het
Tlk2	C	T	11: 105,184,244	R11*	probably null	Het
Tmco6	T	C	18: 36,739,343		probably null	Het
Trmt44	A	T	5: 35,564,303	H505Q	probably benign	Het
Trpc1	T	C	9: 95,708,275	M710V	probably benign	Het
Ttc21b	T	C	2: 66,210,173	E858G	possibly damaging	Het
Twsg1	C	T	17: 65,929,787	D83N	possibly damaging	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Vmn2r6	T	C	3: 64,556,774	N213S	probably benign	Het
Vmn2r88	G	A	14: 51,418,319	V662I		Het
Zfp414	C	A	17: 33,631,279	D217E	probably benign	Het

Other mutations in Pcdhga7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3012:Pcdhga7	UTSW	18	37715638	missense	probably benign	0.01
R3950:Pcdhga7	UTSW	18	37716515	missense	probably damaging	1.00
R4697:Pcdhga7	UTSW	18	37717208	missense	probably damaging	1.00
R4985:Pcdhga7	UTSW	18	37715645	missense	probably benign	0.02
R5073:Pcdhga7	UTSW	18	37715972	missense	probably damaging	1.00
R5137:Pcdhga7	UTSW	18	37717380	missense	probably damaging	0.99
R5424:Pcdhga7	UTSW	18	37715335	missense	probably benign	0.07
R5534:Pcdhga7	UTSW	18	37716278	missense	probably damaging	1.00
R5619:Pcdhga7	UTSW	18	37715747	missense	probably benign	0.00
R5689:Pcdhga7	UTSW	18	37716683	missense	probably damaging	1.00
R6200:Pcdhga7	UTSW	18	37716082	missense	probably damaging	0.99
R6235:Pcdhga7	UTSW	18	37716430	missense	probably benign	0.27
R6597:Pcdhga7	UTSW	18	37717006	missense	probably benign	0.24
R6684:Pcdhga7	UTSW	18	37716050	missense	probably damaging	1.00
R6714:Pcdhga7	UTSW	18	37717277	missense	probably benign	0.00
R6810:Pcdhga7	UTSW	18	37715873	missense	probably benign	0.24
R6920:Pcdhga7	UTSW	18	37715146	missense	probably benign	0.00
R6922:Pcdhga7	UTSW	18	37715657	missense	probably damaging	0.99
R7051:Pcdhga7	UTSW	18	37716941	missense	probably damaging	1.00
R7072:Pcdhga7	UTSW	18	37717276	missense	probably benign	0.01
R7397:Pcdhga7	UTSW	18	37717274	missense	probably benign	0.04
R7450:Pcdhga7	UTSW	18	37716026	missense	probably benign	0.27
R7451:Pcdhga7	UTSW	18	37716004	missense	possibly damaging	0.67
R7790:Pcdhga7	UTSW	18	37714943	start codon destroyed	probably null	0.85

Predicted Primers

PCR Primer
(F):5'- TGGTAGCTGTGGACAAAGAC -3'
(R):5'- GCATGTGTGATTTGTGCCAAC -3'

Sequencing Primer
(F):5'- GACTCAGGCCCAAATGCTTG -3'
(R):5'- TGATTTGTGCCAACGCCACAG -3'

Posted On

2019-06-26