Mutagenetix > Incidental Mutation

Incidental Mutation 'R4747:Pcdhga3'

357240

Institutional Source

Beutler Lab

Gene Symbol

Pcdhga3

Ensembl Gene

ENSMUSG00000104346

Gene Name

protocadherin gamma subfamily A, 3

Synonyms

MMRRC Submission

042029-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R4747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37807388-37974926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37809799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 751 (Q751K)

Ref Sequence

ENSEMBL: ENSMUSP00000073150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192931] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194544]

AlphaFold

Q91XY5

Predicted Effect

probably benign
Transcript: ENSMUST00000073447
AA Change: Q751K

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: Q751K

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: 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: 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: 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: ENSMUST00000195624

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402D24Rik	A	G	1: 63,795,568 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,903,334 (GRCm39)	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,213,077 (GRCm39)	N372K	probably benign	Het
Adh1	G	A	3: 137,994,642 (GRCm39)	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,504,718 (GRCm39)	N730K	probably benign	Het
Aoc2	A	T	11: 101,219,646 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Ccdc7b	T	C	8: 129,904,716 (GRCm39)	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,833,509 (GRCm39)	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,418,348 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,625,922 (GRCm39)	C792S	probably damaging	Het
Ciao3	A	T	17: 25,999,327 (GRCm39)	Y247F	probably benign	Het
Cnot1	T	C	8: 96,501,310 (GRCm39)	N86S	probably benign	Het
Comp	T	C	8: 70,829,352 (GRCm39)	C310R	probably damaging	Het
Crtc2	A	T	3: 90,167,518 (GRCm39)	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,550,559 (GRCm39)	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,214,491 (GRCm39)	R225*	probably null	Het
Dao	A	T	5: 114,150,693 (GRCm39)	D99V	probably benign	Het
Dgkd	A	G	1: 87,861,889 (GRCm39)	T815A	probably damaging	Het
Dhrs7	T	C	12: 72,699,892 (GRCm39)	T247A	probably benign	Het
Dnah7c	G	C	1: 46,572,328 (GRCm39)	D934H	probably damaging	Het
Dnajc15	T	C	14: 78,081,896 (GRCm39)	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,966,872 (GRCm39)	Q152R	probably damaging	Het
Dsc1	T	C	18: 20,227,615 (GRCm39)	K541R	probably damaging	Het
Elp4	G	A	2: 105,624,952 (GRCm39)	R196C	probably damaging	Het
Epha8	GC	G	4: 136,666,006 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,291,864 (GRCm39)	V1076A	probably benign	Het
Fgd4	T	C	16: 16,241,793 (GRCm39)	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,483,114 (GRCm39)	C1028F	probably damaging	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Gabrr3	T	A	16: 59,268,277 (GRCm39)		probably null	Het
Garem1	C	A	18: 21,263,000 (GRCm39)	V605L	probably benign	Het
Gbp7	A	T	3: 142,248,778 (GRCm39)	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,610,840 (GRCm39)	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,750,422 (GRCm39)	H532Q	probably damaging	Het
Herc2	A	G	7: 55,756,141 (GRCm39)	E727G	possibly damaging	Het
Hfm1	G	A	5: 107,065,389 (GRCm39)	H97Y	probably benign	Het
Idua	G	T	5: 108,828,902 (GRCm39)	R335L	probably damaging	Het
Ifi207	A	G	1: 173,556,633 (GRCm39)	S702P	probably benign	Het
Kif16b	A	T	2: 142,699,346 (GRCm39)	V78D	probably damaging	Het
Klra17	T	A	6: 129,849,232 (GRCm39)	D114V	probably damaging	Het
Krt76	A	G	15: 101,794,180 (GRCm39)	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,798,950 (GRCm39)	D153G	probably damaging	Het
Med21	T	A	6: 146,550,700 (GRCm39)	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,113,237 (GRCm39)	M739K	probably benign	Het
Myo1a	A	G	10: 127,550,307 (GRCm39)	E549G	probably damaging	Het
Neu1	A	G	17: 35,153,359 (GRCm39)	D294G	possibly damaging	Het
Nmur2	A	T	11: 55,931,105 (GRCm39)	I202K	probably benign	Het
Nop2	T	A	6: 125,114,057 (GRCm39)	D174E	probably benign	Het
Ogfr	A	T	2: 180,236,216 (GRCm39)	H267L	probably damaging	Het
Or10p1	G	T	10: 129,444,053 (GRCm39)	A99E	possibly damaging	Het
Or5m8	A	G	2: 85,822,271 (GRCm39)	T37A	probably damaging	Het
P2ry13	T	A	3: 59,117,308 (GRCm39)	I157F	probably benign	Het
Pank4	T	C	4: 155,063,989 (GRCm39)	V660A	probably damaging	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,577,868 (GRCm39)	Y749H	probably damaging	Het
Pcnt	C	T	10: 76,272,299 (GRCm39)	E186K	possibly damaging	Het
Pecam1	A	T	11: 106,575,072 (GRCm39)	F613I	probably benign	Het
Pias2	T	C	18: 77,240,488 (GRCm39)	*615Q	probably null	Het
Plb1	A	T	5: 32,507,003 (GRCm39)	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,013,396 (GRCm39)	L506P	probably damaging	Het
Qrfp	T	C	2: 31,698,852 (GRCm39)	T27A	probably damaging	Het
Relb	C	A	7: 19,361,847 (GRCm39)		probably null	Het
Resf1	A	T	6: 149,228,392 (GRCm39)	E479D	probably damaging	Het
Rgl1	G	T	1: 152,400,450 (GRCm39)	C685*	probably null	Het
Ric8b	A	G	10: 84,753,628 (GRCm39)	Y8C	probably benign	Het
Rrp36	G	A	17: 46,980,893 (GRCm39)	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504 (GRCm39)	Q586*	probably null	Het
Sbf1	C	T	15: 89,186,916 (GRCm39)	D821N	probably damaging	Het
Septin8	G	C	11: 53,427,545 (GRCm39)	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,927 (GRCm39)	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,592,498 (GRCm39)	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,536,782 (GRCm39)	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,058,983 (GRCm39)	I373T	probably benign	Het
Sptbn2	T	A	19: 4,798,182 (GRCm39)	M1969K	probably benign	Het
St14	G	A	9: 31,015,053 (GRCm39)	T315M	possibly damaging	Het
Tagap	G	A	17: 8,151,030 (GRCm39)	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,733,476 (GRCm39)	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,854,187 (GRCm39)	D182G	probably damaging	Het
Tinag	A	G	9: 76,904,238 (GRCm39)	V395A	probably benign	Het
Tmc8	A	G	11: 117,683,550 (GRCm39)	S702G	probably benign	Het
Tmem202	A	G	9: 59,426,477 (GRCm39)	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,145,764 (GRCm39)	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,455,479 (GRCm39)	S647C	probably damaging	Het
Tram1	A	T	1: 13,659,870 (GRCm39)	I26N	probably damaging	Het
Ttc6	A	T	12: 57,721,478 (GRCm39)	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,036,372 (GRCm39)	T334A	possibly damaging	Het
Ttn	A	T	2: 76,750,086 (GRCm39)	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,639,832 (GRCm39)	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284 (GRCm39)	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 63,989,267 (GRCm39)	I69V	probably benign	Het
Zfp180	A	T	7: 23,805,246 (GRCm39)	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403 (GRCm39)	N185S	probably benign	Het
Zfp445	C	T	9: 122,686,215 (GRCm39)	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476 (GRCm39)	E1814G	probably benign	Het

Other mutations in Pcdhga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Pcdhga3	APN	18	37,808,486 (GRCm39)	missense	possibly damaging	0.92
R2863:Pcdhga3	UTSW	18	37,807,643 (GRCm39)	missense	probably damaging	0.99
R4446:Pcdhga3	UTSW	18	37,808,938 (GRCm39)	missense	probably damaging	0.99
R4581:Pcdhga3	UTSW	18	37,809,934 (GRCm39)	missense	probably benign	0.00
R4964:Pcdhga3	UTSW	18	37,809,154 (GRCm39)	missense	probably benign	0.05
R5165:Pcdhga3	UTSW	18	37,808,723 (GRCm39)	missense	possibly damaging	0.60
R5210:Pcdhga3	UTSW	18	37,808,963 (GRCm39)	missense	probably benign	0.03
R5370:Pcdhga3	UTSW	18	37,808,343 (GRCm39)	missense	probably damaging	1.00
R5402:Pcdhga3	UTSW	18	37,808,747 (GRCm39)	missense	probably benign	0.33
R5610:Pcdhga3	UTSW	18	37,808,276 (GRCm39)	missense	possibly damaging	0.83
R5782:Pcdhga3	UTSW	18	37,809,353 (GRCm39)	missense	possibly damaging	0.91
R5889:Pcdhga3	UTSW	18	37,809,662 (GRCm39)	missense	probably damaging	1.00
R6058:Pcdhga3	UTSW	18	37,808,141 (GRCm39)	missense	probably damaging	1.00
R6127:Pcdhga3	UTSW	18	37,807,757 (GRCm39)	missense	probably damaging	0.98
R6307:Pcdhga3	UTSW	18	37,809,674 (GRCm39)	unclassified	probably benign
R6893:Pcdhga3	UTSW	18	37,809,598 (GRCm39)	missense	probably benign	0.37
R7013:Pcdhga3	UTSW	18	37,808,674 (GRCm39)	missense	probably damaging	1.00
R7174:Pcdhga3	UTSW	18	37,808,980 (GRCm39)	missense	probably benign	0.02
R7448:Pcdhga3	UTSW	18	37,808,917 (GRCm39)	missense	possibly damaging	0.94
R7492:Pcdhga3	UTSW	18	37,809,178 (GRCm39)	missense	probably benign	0.01
R7509:Pcdhga3	UTSW	18	37,808,910 (GRCm39)	nonsense	probably null
R7914:Pcdhga3	UTSW	18	37,808,013 (GRCm39)	missense	probably benign	0.00
R7984:Pcdhga3	UTSW	18	37,809,549 (GRCm39)	missense	probably benign	0.00
R8782:Pcdhga3	UTSW	18	37,807,865 (GRCm39)	missense	probably damaging	1.00
R9157:Pcdhga3	UTSW	18	37,809,229 (GRCm39)	missense	probably benign	0.40
R9169:Pcdhga3	UTSW	18	37,809,088 (GRCm39)	missense	probably damaging	1.00
R9436:Pcdhga3	UTSW	18	37,808,144 (GRCm39)	missense	probably damaging	1.00
R9437:Pcdhga3	UTSW	18	37,808,144 (GRCm39)	missense	probably damaging	1.00
R9588:Pcdhga3	UTSW	18	37,808,564 (GRCm39)	missense	probably damaging	1.00
R9767:Pcdhga3	UTSW	18	37,808,096 (GRCm39)	missense	probably benign	0.00
R9778:Pcdhga3	UTSW	18	37,807,786 (GRCm39)	missense	probably benign	0.42
Z1177:Pcdhga3	UTSW	18	37,809,674 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGACCTGACACTCTACCTGG -3'
(R):5'- CACACTGGCATAACTTCGTAAC -3'

Sequencing Primer
(F):5'- ACCTGGTGGTGGCAGTG -3'
(R):5'- TGGCATAACTTCGTAACACTCAAAG -3'

Posted On

2015-11-11