Mutagenetix > Incidental Mutation

Incidental Mutation 'R3156:Col4a2'

353169

Institutional Source

Beutler Lab

Gene Symbol

Col4a2

Ensembl Gene

ENSMUSG00000031503

Gene Name

collagen, type IV, alpha 2

Synonyms

Col4a-2

MMRRC Submission

040607-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3156 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

11362805-11499287 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 11363414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033898] [ENSMUST00000033899] [ENSMUST00000209735]

AlphaFold

P08122

Predicted Effect

probably benign
Transcript: ENSMUST00000033898

SMART Domains

Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	28	43	N/A	INTRINSIC
internal_repeat_2	49	89	2.1e-8	PROSPERO
Pfam:Collagen	103	163	6.1e-11	PFAM
Pfam:Collagen	167	225	7.8e-10	PFAM
low complexity region	232	248	N/A	INTRINSIC
Pfam:Collagen	274	334	1.7e-11	PFAM
low complexity region	356	389	N/A	INTRINSIC
low complexity region	404	426	N/A	INTRINSIC
low complexity region	435	455	N/A	INTRINSIC
Pfam:Collagen	472	533	7.3e-12	PFAM
Pfam:Collagen	539	597	4.8e-9	PFAM
low complexity region	600	636	N/A	INTRINSIC
Pfam:Collagen	642	689	4.5e-8	PFAM
Pfam:Collagen	689	746	3.5e-8	PFAM
Pfam:Collagen	736	800	2.2e-9	PFAM
Pfam:Collagen	837	896	5.2e-11	PFAM
Pfam:Collagen	882	940	1.9e-10	PFAM
Pfam:Collagen	943	1007	1.7e-10	PFAM
Pfam:Collagen	996	1058	2e-9	PFAM
Pfam:Collagen	1057	1121	1.5e-10	PFAM
low complexity region	1133	1148	N/A	INTRINSIC
Pfam:Collagen	1174	1233	8.6e-11	PFAM
low complexity region	1236	1266	N/A	INTRINSIC
Pfam:Collagen	1269	1337	1e-8	PFAM
Pfam:Collagen	1290	1354	2.2e-9	PFAM
Pfam:Collagen	1384	1443	1e-10	PFAM
C4	1445	1554	3.49e-65	SMART
C4	1555	1668	1.53e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000033899

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209735

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (39/40)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,104 (GRCm39)		probably benign	Het
Adra2b	T	C	2: 127,205,570 (GRCm39)	L29P	probably damaging	Het
Anxa9	A	T	3: 95,209,716 (GRCm39)	D134E	probably benign	Het
Atad1	A	T	19: 32,684,355 (GRCm39)	N14K	probably benign	Het
Cbl	T	C	9: 44,070,147 (GRCm39)	I533M	possibly damaging	Het
Cdca2	T	C	14: 67,935,612 (GRCm39)	N368D	possibly damaging	Het
Cfap45	A	T	1: 172,373,291 (GRCm39)	N543Y	possibly damaging	Het
Dis3l	T	C	9: 64,219,032 (GRCm39)	T633A	probably benign	Het
Dnah5	G	A	15: 28,438,237 (GRCm39)		probably benign	Het
Fut2	A	T	7: 45,300,091 (GRCm39)	L227Q	probably damaging	Het
Gcnt2	T	C	13: 41,014,654 (GRCm39)	V275A	probably benign	Het
Glrp1	C	A	1: 88,430,976 (GRCm39)	Q131H	unknown	Het
Gm6871	T	C	7: 41,223,079 (GRCm39)	N3S	probably benign	Het
Hmgcs1	C	T	13: 120,166,614 (GRCm39)	T402I	probably benign	Het
Hps6	A	G	19: 45,992,180 (GRCm39)	D39G	probably damaging	Het
Mab21l4	T	A	1: 93,087,764 (GRCm39)	I30F	possibly damaging	Het
Mycbp2	A	T	14: 103,446,179 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,182,125 (GRCm39)	I1761T	probably damaging	Het
Neo1	T	C	9: 58,796,262 (GRCm39)		probably null	Het
Or4k15c	T	C	14: 50,321,982 (GRCm39)	D52G	probably benign	Het
Or7g27	A	G	9: 19,250,720 (GRCm39)		probably null	Het
Patj	A	G	4: 98,562,465 (GRCm39)	E1478G	probably damaging	Het
Paxbp1	T	C	16: 90,832,878 (GRCm39)	T304A	probably benign	Het
Rbp3	A	T	14: 33,679,071 (GRCm39)	K1006N	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rusc1	T	C	3: 88,999,038 (GRCm39)	D248G	probably benign	Het
Secisbp2	A	G	13: 51,816,711 (GRCm39)	T288A	probably benign	Het
Setbp1	A	G	18: 78,902,518 (GRCm39)	V383A	probably benign	Het
Sez6	T	A	11: 77,844,605 (GRCm39)	S143T	possibly damaging	Het
Slc5a9	A	T	4: 111,747,421 (GRCm39)	I322N	possibly damaging	Het
Szt2	A	G	4: 118,260,016 (GRCm39)		probably null	Het
Tex2	A	G	11: 106,424,695 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,523,721 (GRCm39)	L64Q	probably damaging	Het
Triml2	A	G	8: 43,640,716 (GRCm39)	N191D	probably benign	Het
Trpc1	C	T	9: 95,603,185 (GRCm39)		probably null	Het
Yeats4	C	T	10: 117,058,186 (GRCm39)	V22I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AATAGGGATCGCGCTGCATG -3'
(R):5'- TGTCACAGTTGCTAGCAGC -3'

Sequencing Primer
(F):5'- TGCATGGGCTGAGGAGC -3'
(R):5'- CTAGCAGCAGCCACCTG -3'

Posted On

2015-10-21