Mutagenetix > Incidental Mutation

Incidental Mutation 'R4953:Col4a2'

381396

Institutional Source

Beutler Lab

Gene Symbol

Col4a2

Ensembl Gene

ENSMUSG00000031503

Gene Name

collagen, type IV, alpha 2

Synonyms

Col4a-2

MMRRC Submission

042550-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4953 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

11362805-11499287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11479505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 796 (E796V)

Ref Sequence

ENSEMBL: ENSMUSP00000033899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033899]

AlphaFold

P08122

Predicted Effect

probably benign
Transcript: ENSMUST00000033899
AA Change: E796V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: E796V

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Collagen	56	119	1.2e-10	PFAM
Pfam:Collagen	112	174	3.9e-8	PFAM
low complexity region	193	229	N/A	INTRINSIC
Pfam:Collagen	289	348	1.3e-10	PFAM
low complexity region	370	389	N/A	INTRINSIC
low complexity region	427	445	N/A	INTRINSIC
Pfam:Collagen	488	546	2e-10	PFAM
Pfam:Collagen	590	655	4.5e-9	PFAM
low complexity region	665	673	N/A	INTRINSIC
Pfam:Collagen	674	731	3.5e-10	PFAM
Pfam:Collagen	714	775	4.3e-10	PFAM
Pfam:Collagen	773	831	1.5e-10	PFAM
Pfam:Collagen	861	935	8.1e-10	PFAM
Pfam:Collagen	915	976	1.1e-9	PFAM
Pfam:Collagen	978	1038	2.6e-8	PFAM
Pfam:Collagen	1027	1091	1.7e-10	PFAM
Pfam:Collagen	1094	1155	5.5e-11	PFAM
Pfam:Collagen	1147	1211	1e-10	PFAM
Pfam:Collagen	1271	1340	2.1e-8	PFAM
Pfam:Collagen	1330	1392	7.1e-10	PFAM
C4	1484	1591	7.85e-59	SMART
C4	1592	1706	7.65e-71	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

MGI Phenotype

FUNCTION: This gene encodes the alpha-2 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of alpha-1 and alpha-2 subunits that assembles into a type IV collagen network. Canstatin, a peptide derived fom the C-terminus of the collagen chain, is a matrikine that has been shown to inhibit angiogenesis. Homozygous knockout mice for this gene exhibit impaired basement membrane integrity and embryonic lethality. This gene shares a bi-directional promoter with a related gene on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Gene trapped(6) Chemically induced(3)

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,128,525 (GRCm39)	Y129H	probably damaging	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgre1	G	A	17: 57,748,321 (GRCm39)	G507E	probably damaging	Het
Agpat5	G	A	8: 18,918,971 (GRCm39)	V118I	probably benign	Het
Aif1	T	C	17: 35,390,074 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,488,608 (GRCm39)		probably null	Het
Akt2	T	A	7: 27,337,597 (GRCm39)		probably null	Het
Ankrd35	T	A	3: 96,590,989 (GRCm39)	L425Q	possibly damaging	Het
Arhgap40	A	G	2: 158,385,326 (GRCm39)	T520A	possibly damaging	Het
Arhgef28	T	A	13: 98,066,062 (GRCm39)	D1597V	possibly damaging	Het
Aspm	A	G	1: 139,399,472 (GRCm39)	D1079G	probably benign	Het
Atp1a2	A	T	1: 172,119,009 (GRCm39)		probably benign	Het
Cage1	C	A	13: 38,207,406 (GRCm39)	E252D	possibly damaging	Het
Ccdc185	A	G	1: 182,576,582 (GRCm39)	S36P	possibly damaging	Het
Cd300a	T	C	11: 114,784,247 (GRCm39)	V85A	probably damaging	Het
Cd38	A	C	5: 44,064,887 (GRCm39)	D235A	possibly damaging	Het
Cdcp1	T	C	9: 123,009,088 (GRCm39)	K530R	probably benign	Het
Ceacam20	T	A	7: 19,705,651 (GRCm39)	L214Q	probably damaging	Het
Cntn4	G	A	6: 106,502,379 (GRCm39)	A379T	probably benign	Het
Copa	A	G	1: 171,910,453 (GRCm39)		probably benign	Het
Cpa5	A	G	6: 30,631,363 (GRCm39)	T426A	possibly damaging	Het
Csmd1	A	G	8: 16,249,931 (GRCm39)	F1016L	probably damaging	Het
Cyb5r3	A	T	15: 83,042,822 (GRCm39)	L290*	probably null	Het
Ddx42	A	G	11: 106,133,766 (GRCm39)	T581A	probably damaging	Het
Deaf1	C	T	7: 140,902,381 (GRCm39)	G221S	probably damaging	Het
Dnah6	A	G	6: 73,165,366 (GRCm39)	S580P	probably benign	Het
Dock1	A	G	7: 134,754,017 (GRCm39)	E1598G	probably benign	Het
Drg2	T	C	11: 60,350,262 (GRCm39)		probably benign	Het
Eif3f	C	A	7: 108,533,847 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,574,901 (GRCm39)	T236K	probably benign	Het
Gas7	C	T	11: 67,550,876 (GRCm39)	T126M	possibly damaging	Het
Gckr	T	G	5: 31,465,608 (GRCm39)	F408C	probably damaging	Het
Gm17472	A	G	6: 42,958,004 (GRCm39)	D91G	probably damaging	Het
Gm5117	G	A	8: 32,228,608 (GRCm39)		noncoding transcript	Het
Gsto1	T	A	19: 47,843,759 (GRCm39)	I47N	probably damaging	Het
Hck	C	T	2: 152,976,597 (GRCm39)	P244S	probably damaging	Het
Hif3a	T	C	7: 16,784,490 (GRCm39)	T250A	probably damaging	Het
Hmcn1	A	T	1: 150,752,111 (GRCm39)		probably benign	Het
Impa1	G	A	3: 10,380,340 (GRCm39)	S247F	probably damaging	Het
Ints14	G	C	9: 64,889,340 (GRCm39)	R397P	probably damaging	Het
Iqgap1	T	C	7: 80,373,524 (GRCm39)		probably null	Het
Krt1c	T	C	15: 101,722,377 (GRCm39)	K436R	probably damaging	Het
Lama3	G	A	18: 12,581,362 (GRCm39)	C607Y	probably damaging	Het
Loxl4	G	T	19: 42,599,133 (GRCm39)		probably benign	Het
Lrrc8d	C	T	5: 105,961,234 (GRCm39)	T548M	probably damaging	Het
Man1b1	T	A	2: 25,228,196 (GRCm39)	D155E	probably damaging	Het
Mapk8ip2	C	T	15: 89,341,431 (GRCm39)	P214L	probably benign	Het
Mast1	G	A	8: 85,645,357 (GRCm39)	T696I	probably damaging	Het
Muc15	C	T	2: 110,561,617 (GRCm39)	P18S	probably damaging	Het
Mybl2	T	C	2: 162,922,716 (GRCm39)	S205P	probably damaging	Het
Mylk	T	C	16: 34,809,331 (GRCm39)	S1763P	probably damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nfib	A	G	4: 82,271,808 (GRCm39)	M252T	probably benign	Het
Nid2	C	A	14: 19,828,146 (GRCm39)	Y261*	probably null	Het
Nmd3	C	T	3: 69,638,970 (GRCm39)	R187C	possibly damaging	Het
Nomo1	G	T	7: 45,700,155 (GRCm39)		probably benign	Het
Npy4r	A	G	14: 33,868,437 (GRCm39)	F284L	probably damaging	Het
Nt5dc2	T	C	14: 30,860,878 (GRCm39)	V351A	possibly damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5b121	T	A	19: 13,507,178 (GRCm39)	L91Q	probably null	Het
Or5g27	T	A	2: 85,410,069 (GRCm39)	L162*	probably null	Het
Pcdhb12	T	A	18: 37,569,209 (GRCm39)	D118E	probably damaging	Het
Pdcd11	C	T	19: 47,116,404 (GRCm39)	T1518I	probably benign	Het
Pde6a	T	A	18: 61,364,434 (GRCm39)	C163*	probably null	Het
Pign	A	T	1: 105,572,227 (GRCm39)	W314R	probably benign	Het
Pip5k1b	T	A	19: 24,367,799 (GRCm39)	H76L	probably damaging	Het
Plcz1	T	C	6: 139,974,277 (GRCm39)	N55S	possibly damaging	Het
Pou5f1	A	T	17: 35,821,438 (GRCm39)	H350L	possibly damaging	Het
Rchy1	A	T	5: 92,110,487 (GRCm39)		probably null	Het
Ric8b	A	G	10: 84,793,946 (GRCm39)	T270A	possibly damaging	Het
Rprml	A	G	11: 103,540,644 (GRCm39)	E13G	probably benign	Het
Secisbp2	T	A	13: 51,836,063 (GRCm39)	I719N	probably damaging	Het
Sergef	C	T	7: 46,283,259 (GRCm39)	R148H	probably benign	Het
Serpina6	T	A	12: 103,618,221 (GRCm39)		probably null	Het
Sirpb1b	C	A	3: 15,613,887 (GRCm39)	W65L	probably damaging	Het
Slc32a1	A	T	2: 158,455,977 (GRCm39)	I211F	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Smarce1	A	G	11: 99,105,977 (GRCm39)	V226A	probably benign	Het
Spata31d1b	A	T	13: 59,864,097 (GRCm39)	E415V	probably damaging	Het
Speg	G	A	1: 75,400,508 (GRCm39)	R2556H	possibly damaging	Het
Suclg2	A	C	6: 95,543,417 (GRCm39)	V338G	probably damaging	Het
Tarbp1	T	C	8: 127,174,184 (GRCm39)	E874G	possibly damaging	Het
Tex14	G	T	11: 87,427,727 (GRCm39)		probably null	Het
Trim36	T	A	18: 46,329,245 (GRCm39)	D53V	possibly damaging	Het
Tsga10ip	T	A	19: 5,444,368 (GRCm39)	Y21F	possibly damaging	Het
Ttn	C	T	2: 76,620,289 (GRCm39)	V15849M	probably damaging	Het
Ube3b	T	C	5: 114,539,471 (GRCm39)	S421P	probably benign	Het
Unc5a	A	T	13: 55,147,683 (GRCm39)	M498L	probably benign	Het
Vipr2	A	G	12: 116,107,876 (GRCm39)	I420M	probably benign	Het
Vmn1r179	T	A	7: 23,628,515 (GRCm39)	H235Q	probably damaging	Het
Vps35	T	A	8: 86,008,475 (GRCm39)	I267F	probably damaging	Het
Wdr26	G	A	1: 181,025,216 (GRCm39)	R279W	probably damaging	Het
Xpo6	C	A	7: 125,768,443 (GRCm39)	R88L	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp105	T	A	9: 122,758,880 (GRCm39)	S184T	probably benign	Het
Zfp574	G	A	7: 24,780,388 (GRCm39)	R470H	probably damaging	Het
Zswim9	T	A	7: 13,003,484 (GRCm39)	H122L	probably damaging	Het

Other mutations in Col4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Col4a2	APN	8	11,493,685 (GRCm39)	missense	probably damaging	1.00
IGL00485:Col4a2	APN	8	11,489,012 (GRCm39)	missense	probably benign
IGL00909:Col4a2	APN	8	11,498,167 (GRCm39)	missense	possibly damaging	0.91
IGL01574:Col4a2	APN	8	11,489,306 (GRCm39)	missense	probably damaging	1.00
IGL01914:Col4a2	APN	8	11,464,754 (GRCm39)	missense	possibly damaging	0.57
IGL02147:Col4a2	APN	8	11,458,140 (GRCm39)	missense	probably benign	0.28
IGL02205:Col4a2	APN	8	11,481,305 (GRCm39)	nonsense	probably null
IGL02423:Col4a2	APN	8	11,483,800 (GRCm39)	missense	probably benign
IGL03131:Col4a2	APN	8	11,475,979 (GRCm39)	missense	probably benign
band	UTSW	8	11,498,225 (GRCm39)	missense	probably benign	0.00
Binder	UTSW	8	11,466,070 (GRCm39)	missense	probably damaging	1.00
G4846:Col4a2	UTSW	8	11,458,872 (GRCm39)	splice site	probably benign
IGL03054:Col4a2	UTSW	8	11,498,270 (GRCm39)	missense	probably damaging	0.96
R0087:Col4a2	UTSW	8	11,491,296 (GRCm39)	missense	probably benign
R0124:Col4a2	UTSW	8	11,458,871 (GRCm39)	splice site	probably benign
R0603:Col4a2	UTSW	8	11,464,779 (GRCm39)	missense	probably benign
R0646:Col4a2	UTSW	8	11,481,252 (GRCm39)	missense	probably benign	0.17
R0970:Col4a2	UTSW	8	11,465,438 (GRCm39)	missense	probably benign	0.00
R1738:Col4a2	UTSW	8	11,496,238 (GRCm39)	missense	probably damaging	1.00
R1746:Col4a2	UTSW	8	11,496,020 (GRCm39)	missense	probably benign	0.35
R1826:Col4a2	UTSW	8	11,363,509 (GRCm39)	critical splice donor site	probably null
R1834:Col4a2	UTSW	8	11,452,997 (GRCm39)	missense	probably benign	0.10
R2016:Col4a2	UTSW	8	11,495,086 (GRCm39)	missense	probably benign	0.04
R2017:Col4a2	UTSW	8	11,495,086 (GRCm39)	missense	probably benign	0.04
R2124:Col4a2	UTSW	8	11,466,070 (GRCm39)	missense	probably damaging	1.00
R2137:Col4a2	UTSW	8	11,483,749 (GRCm39)	missense	probably benign
R2207:Col4a2	UTSW	8	11,493,352 (GRCm39)	missense	probably damaging	1.00
R3156:Col4a2	UTSW	8	11,363,414 (GRCm39)	unclassified	probably benign
R4169:Col4a2	UTSW	8	11,479,391 (GRCm39)	missense	probably benign	0.22
R4679:Col4a2	UTSW	8	11,481,337 (GRCm39)	missense	possibly damaging	0.68
R4705:Col4a2	UTSW	8	11,363,504 (GRCm39)	missense	possibly damaging	0.52
R4710:Col4a2	UTSW	8	11,459,462 (GRCm39)	missense	probably benign	0.22
R4716:Col4a2	UTSW	8	11,452,224 (GRCm39)	missense	probably damaging	1.00
R4730:Col4a2	UTSW	8	11,487,590 (GRCm39)	missense	probably benign
R4732:Col4a2	UTSW	8	11,496,197 (GRCm39)	missense	probably benign	0.02
R4732:Col4a2	UTSW	8	11,464,779 (GRCm39)	missense	probably benign
R4733:Col4a2	UTSW	8	11,496,197 (GRCm39)	missense	probably benign	0.02
R4733:Col4a2	UTSW	8	11,464,779 (GRCm39)	missense	probably benign
R4834:Col4a2	UTSW	8	11,456,836 (GRCm39)	nonsense	probably null
R4835:Col4a2	UTSW	8	11,473,570 (GRCm39)	nonsense	probably null
R5078:Col4a2	UTSW	8	11,493,936 (GRCm39)	missense	probably benign
R5204:Col4a2	UTSW	8	11,448,651 (GRCm39)	splice site	probably null
R5221:Col4a2	UTSW	8	11,498,225 (GRCm39)	missense	probably benign	0.00
R5355:Col4a2	UTSW	8	11,495,984 (GRCm39)	missense	probably damaging	0.96
R5478:Col4a2	UTSW	8	11,448,697 (GRCm39)	missense	probably benign	0.21
R5492:Col4a2	UTSW	8	11,488,608 (GRCm39)	missense	possibly damaging	0.82
R5646:Col4a2	UTSW	8	11,491,281 (GRCm39)	missense	probably damaging	1.00
R5857:Col4a2	UTSW	8	11,475,442 (GRCm39)	missense	probably damaging	1.00
R5948:Col4a2	UTSW	8	11,470,600 (GRCm39)	missense	probably benign	0.21
R6329:Col4a2	UTSW	8	11,496,238 (GRCm39)	missense	probably damaging	1.00
R6496:Col4a2	UTSW	8	11,452,994 (GRCm39)	missense	probably damaging	1.00
R6496:Col4a2	UTSW	8	11,452,993 (GRCm39)	nonsense	probably null
R6531:Col4a2	UTSW	8	11,458,135 (GRCm39)	missense	probably benign	0.00
R7185:Col4a2	UTSW	8	11,449,739 (GRCm39)	missense	probably damaging	0.99
R7196:Col4a2	UTSW	8	11,448,693 (GRCm39)	missense	probably damaging	1.00
R7266:Col4a2	UTSW	8	11,475,542 (GRCm39)	critical splice donor site	probably null
R7308:Col4a2	UTSW	8	11,456,856 (GRCm39)	critical splice donor site	probably null
R7341:Col4a2	UTSW	8	11,448,678 (GRCm39)	missense	probably damaging	0.97
R7394:Col4a2	UTSW	8	11,496,184 (GRCm39)	missense	probably benign	0.00
R7434:Col4a2	UTSW	8	11,471,250 (GRCm39)	missense	probably damaging	1.00
R7606:Col4a2	UTSW	8	11,493,571 (GRCm39)	missense	probably benign	0.00
R7646:Col4a2	UTSW	8	11,495,086 (GRCm39)	missense	probably benign	0.04
R7712:Col4a2	UTSW	8	11,475,376 (GRCm39)	missense	probably benign
R7752:Col4a2	UTSW	8	11,479,358 (GRCm39)	missense	probably benign	0.38
R7844:Col4a2	UTSW	8	11,475,453 (GRCm39)	nonsense	probably null
R7901:Col4a2	UTSW	8	11,479,358 (GRCm39)	missense	probably benign	0.38
R8186:Col4a2	UTSW	8	11,475,542 (GRCm39)	critical splice donor site	probably null
R8331:Col4a2	UTSW	8	11,463,985 (GRCm39)	nonsense	probably null
R8389:Col4a2	UTSW	8	11,498,132 (GRCm39)	missense	probably damaging	1.00
R8547:Col4a2	UTSW	8	11,479,305 (GRCm39)	critical splice acceptor site	probably null
R8927:Col4a2	UTSW	8	11,475,543 (GRCm39)	splice site	probably null
R9051:Col4a2	UTSW	8	11,498,198 (GRCm39)	missense	probably damaging	1.00
R9088:Col4a2	UTSW	8	11,493,227 (GRCm39)	missense	possibly damaging	0.91
R9221:Col4a2	UTSW	8	11,491,943 (GRCm39)	missense	possibly damaging	0.89
R9323:Col4a2	UTSW	8	11,493,413 (GRCm39)	missense	possibly damaging	0.56
R9337:Col4a2	UTSW	8	11,479,346 (GRCm39)	missense	probably benign	0.00
R9377:Col4a2	UTSW	8	11,483,725 (GRCm39)	missense	probably damaging	1.00
R9697:Col4a2	UTSW	8	11,487,628 (GRCm39)	missense	probably benign	0.34
R9701:Col4a2	UTSW	8	11,493,104 (GRCm39)	missense	probably benign	0.00
R9729:Col4a2	UTSW	8	11,496,157 (GRCm39)	missense	probably benign	0.08
R9802:Col4a2	UTSW	8	11,493,104 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGATCCAAAGGTACCACAGG -3'
(R):5'- GTGCATGCACATGTGAGTTC -3'

Sequencing Primer
(F):5'- AGGTACCACAGGCCTCC -3'
(R):5'- GTGTGCACATGAAATTTCTTCTTTTG -3'

Posted On

2016-04-27