Mutagenetix > Incidental Mutations

Incidental Mutation 'R6597:Pcdhga7'

524999

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: 0.175) question?

Stock #

R6597 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37714764-37841873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37717006 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 689 (S689P)

Ref Sequence

ENSEMBL: ENSMUSP00000142126 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000192511
AA Change: S689P

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: S689P

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 benign
Transcript: ENSMUST00000193476
AA Change: S689P

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472
AA Change: S689P

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

noncoding transcript
Transcript: ENSMUST00000193815

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

noncoding transcript
Transcript: ENSMUST00000195069

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: 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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (50/50)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	G	T	1: 136,226,189	A87E	probably damaging	Het
A2m	A	G	6: 121,648,121	Y486C	probably damaging	Het
Asb17	A	T	3: 153,844,684	T118S	probably damaging	Het
Atl2	T	A	17: 79,852,766	D293V	possibly damaging	Het
Bbs1	T	A	19: 4,899,306	M242L	probably benign	Het
Btg1	T	A	10: 96,618,320	S65T	probably damaging	Het
Cfap54	T	C	10: 92,999,040	D1101G	possibly damaging	Het
Cmpk2	G	T	12: 26,474,145	V314L	possibly damaging	Het
Fbxl8	A	C	8: 105,268,891	D345A	probably benign	Het
Gys2	T	A	6: 142,456,309	H268L	probably benign	Het
Hecw1	T	A	13: 14,316,818	R117*	probably null	Het
Hoxd10	G	A	2: 74,692,640	A221T	probably benign	Het
Hspa13	A	T	16: 75,765,197	L38Q	probably damaging	Het
Ipo11	A	G	13: 106,865,863		probably null	Het
Itgb8	A	G	12: 119,173,398	V390A	possibly damaging	Het
Kalrn	T	A	16: 34,182,747	I1370F	probably damaging	Het
Macf1	T	C	4: 123,382,692	N6086S	probably damaging	Het
Ms4a13	T	C	19: 11,192,939	T14A	probably benign	Het
Olfr1164	A	G	2: 88,093,069	F289S	probably damaging	Het
Olfr1500	T	A	19: 13,828,457		probably benign	Het
Olfr204	C	T	16: 59,315,350	R19H	probably benign	Het
Olfr545	A	T	7: 102,494,421	I118N	probably damaging	Het
Olfr742	T	A	14: 50,515,551	C116S	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,004	I91F	probably benign	Het
Patl2	T	A	2: 122,186,164		probably benign	Het
Pitpnc1	G	T	11: 107,226,232	Y227*	probably null	Het
Pla2g2e	T	C	4: 138,880,673	V22A	unknown	Het
Ppil1	C	A	17: 29,261,878	V24F	probably benign	Het
Prl3b1	G	A	13: 27,247,974		probably null	Het
Rabgef1	G	A	5: 130,191,044		probably null	Het
Rhot2	A	T	17: 25,840,912	W341R	probably damaging	Het
Rps6kc1	A	T	1: 190,750,184	W286R	probably benign	Het
Rrs1	A	G	1: 9,546,376	T285A	probably damaging	Het
Shc3	T	A	13: 51,442,973	D338V	possibly damaging	Het
Siglech	A	T	7: 55,768,463	M60L	probably benign	Het
Slc12a6	G	T	2: 112,352,935	V756F	probably damaging	Het
Slc43a2	G	A	11: 75,571,855	G507D	probably damaging	Het
Slf1	A	G	13: 77,049,129	S789P	probably benign	Het
Spata31d1d	C	A	13: 59,726,057	M1221I	probably benign	Het
Srgap1	T	C	10: 121,792,371	N899D	probably benign	Het
Stag1	G	A	9: 100,887,420	M529I	probably benign	Het
Tekt3	A	G	11: 63,081,259	D247G	probably benign	Het
Tmppe	A	T	9: 114,405,244	M204L	probably benign	Het
Tpsg1	G	A	17: 25,369,297		probably benign	Het
Ttn	A	G	2: 76,797,971	V6288A	probably benign	Het
Ttn	A	T	2: 76,893,100		probably benign	Het
Twsg1	C	A	17: 65,937,804	V73F	probably damaging	Het
Vmn2r102	A	G	17: 19,694,188	T672A	probably damaging	Het
Vps36	A	G	8: 22,202,304	I66V	probably benign	Het
Xrcc4	A	T	13: 90,000,929	D157E	probably benign	Het
Zbbx	T	A	3: 75,136,454	Q162L	probably damaging	Het
Zfp560	T	A	9: 20,348,001	I522L	probably benign	Het
Zscan20	T	C	4: 128,585,746	N984S	probably damaging	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
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
R7265:Pcdhga7	UTSW	18	37716916	missense	probably damaging	1.00
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
R7833:Pcdhga7	UTSW	18	37716024	missense	possibly damaging	0.52
R7922:Pcdhga7	UTSW	18	37716173	missense	probably benign	0.00
R7935:Pcdhga7	UTSW	18	37716509	missense	possibly damaging	0.91
R8007:Pcdhga7	UTSW	18	37716893	missense	probably benign	0.06
R8073:Pcdhga7	UTSW	18	37715345	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAAAGCCAGTGAGCCAGG -3'
(R):5'- CTACAAAGTGTGAGGCAGGC -3'

Sequencing Primer
(F):5'- TTCTCAGTAGGGCTACACACTGG -3'
(R):5'- AGTGTGAGGCAGGCACATCTTC -3'

Posted On

2018-06-22