Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02205:Col4a2'

284451

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col4a2

Ensembl Gene

ENSMUSG00000031503

Gene Name

collagen, type IV, alpha 2

Synonyms

Col4a-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02205

Quality Score

Status

Chromosome

Chromosomal Location

11362805-11499287 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 11481305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 826 (Q826*)

Ref Sequence

ENSEMBL: ENSMUSP00000033899 (fasta)

Gene Model

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

AlphaFold

P08122

Predicted Effect

probably null
Transcript: ENSMUST00000033899
AA Change: Q826*

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: Q826*

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

Coding Region Coverage

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	G	11: 117,725,982 (GRCm39)	L150R	probably damaging	Het
Ankrd27	T	G	7: 35,316,364 (GRCm39)	D543E	probably damaging	Het
Anks1b	T	G	10: 89,906,956 (GRCm39)	L258V	probably benign	Het
Cacna1i	T	C	15: 80,257,152 (GRCm39)	F1087S	probably benign	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Cmip	G	A	8: 118,181,714 (GRCm39)	V674I	probably damaging	Het
Ctdsp1	C	T	1: 74,432,993 (GRCm39)	A92V	possibly damaging	Het
Dnajc10	T	A	2: 80,179,702 (GRCm39)	S745R	possibly damaging	Het
Dpp4	T	C	2: 62,182,601 (GRCm39)	Y560C	probably damaging	Het
Fbxl6	A	G	15: 76,421,541 (GRCm39)	M232T	probably benign	Het
Gm5414	A	G	15: 101,534,304 (GRCm39)	F267L	probably benign	Het
Heatr5a	A	G	12: 51,924,120 (GRCm39)	I2031T	probably damaging	Het
Hmcn2	T	G	2: 31,290,139 (GRCm39)	V2324G	probably damaging	Het
Hnmt	A	T	2: 23,909,157 (GRCm39)	N85K	probably damaging	Het
Kcng4	G	T	8: 120,352,822 (GRCm39)	R363S	probably damaging	Het
Kif18a	T	C	2: 109,137,363 (GRCm39)		probably benign	Het
Lrrc8b	A	T	5: 105,629,703 (GRCm39)	Y683F	probably benign	Het
Mepce	G	T	5: 137,782,757 (GRCm39)	T523K	probably benign	Het
Mroh1	T	C	15: 76,321,439 (GRCm39)	V1040A	possibly damaging	Het
Myof	A	G	19: 37,913,083 (GRCm39)	Y1470H	probably damaging	Het
Or5p50	A	G	7: 107,421,798 (GRCm39)	Y293H	probably damaging	Het
Otol1	T	C	3: 69,925,929 (GRCm39)	S35P	probably benign	Het
P4htm	T	C	9: 108,459,161 (GRCm39)	D257G	probably benign	Het
Pcdhb15	A	G	18: 37,607,010 (GRCm39)	T81A	probably damaging	Het
Polg2	T	C	11: 106,669,946 (GRCm39)	E108G	probably benign	Het
Rfx7	T	A	9: 72,514,932 (GRCm39)	H143Q	probably damaging	Het
Sf3b2	A	G	19: 5,333,765 (GRCm39)	V611A	probably benign	Het
Slc10a7	G	T	8: 79,423,932 (GRCm39)	K203N	probably benign	Het
Slc12a5	T	A	2: 164,838,399 (GRCm39)	V1046D	probably benign	Het
Tacc2	A	T	7: 130,228,412 (GRCm39)	D1718V	probably damaging	Het
Unc79	T	A	12: 103,045,260 (GRCm39)	I812N	probably damaging	Het
Vps13c	A	G	9: 67,790,736 (GRCm39)	Y338C	probably damaging	Het
Wdr17	T	C	8: 55,149,335 (GRCm39)	Y31C	probably damaging	Het
Zfp654	A	T	16: 64,606,329 (GRCm39)	N624K	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
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
R4953:Col4a2	UTSW	8	11,479,505 (GRCm39)	missense	probably benign	0.02
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

Posted On

2015-04-16