Mutagenetix > Incidental Mutation

Incidental Mutation 'R6531:Col4a2'

522353

Institutional Source

Beutler Lab

Gene Symbol

Col4a2

Ensembl Gene

ENSMUSG00000031503

Gene Name

collagen, type IV, alpha 2

Synonyms

Col4a-2

MMRRC Submission

044657-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6531 (G1)

Quality Score

166.009

Status

Validated

Chromosome

Chromosomal Location

11362805-11499287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11458135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 270 (D270E)

Ref Sequence

ENSEMBL: ENSMUSP00000033899 (fasta)

Gene Model

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

AlphaFold

P08122

Predicted Effect

probably benign
Transcript: ENSMUST00000033899
AA Change: D270E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: D270E

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

noncoding transcript
Transcript: ENSMUST00000145295

SMART Domains

Protein: ENSMUSP00000114737
Gene: ENSMUSG00000031503

Domain	Start	End	E-Value	Type
Pfam:Collagen	6	55	9.7e-8	PFAM
Pfam:Collagen	81	140	4.4e-12	PFAM
Pfam:Collagen	145	210	2.7e-8	PFAM
Pfam:Collagen	184	239	2.9e-8	PFAM
low complexity region	280	293	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148654

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.6%

Validation Efficiency

100% (46/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,926,980 (GRCm39)	E880G	possibly damaging	Het
Acsbg2	T	A	17: 57,153,617 (GRCm39)	I529F	probably damaging	Het
Ahcyl2	T	G	6: 29,886,161 (GRCm39)	M359R	probably benign	Het
Aldh5a1	G	T	13: 25,102,547 (GRCm39)	D305E	probably benign	Het
Catsper2	C	G	2: 121,230,261 (GRCm39)	V358L	possibly damaging	Het
Cd200r4	C	T	16: 44,653,868 (GRCm39)	Q222*	probably null	Het
Cux1	T	C	5: 136,303,973 (GRCm39)	D1401G	probably benign	Het
Cyp3a59	T	A	5: 146,035,027 (GRCm39)	M235K	probably benign	Het
Dock3	T	C	9: 106,844,415 (GRCm39)	D895G	probably benign	Het
Dync1h1	T	C	12: 110,584,354 (GRCm39)	F586L	probably damaging	Het
Elmo1	G	T	13: 20,756,616 (GRCm39)	R568L	possibly damaging	Het
Epb41	T	C	4: 131,684,947 (GRCm39)	T711A	probably benign	Het
Grm7	T	A	6: 111,335,386 (GRCm39)	M599K	probably benign	Het
Hivep3	A	T	4: 119,980,073 (GRCm39)	K1704*	probably null	Het
Ighv1-62-3	C	A	12: 115,424,626 (GRCm39)	C115F	probably damaging	Het
Krt78	A	G	15: 101,860,708 (GRCm39)	Y200H	probably benign	Het
Lamb2	A	T	9: 108,360,925 (GRCm39)	H549L	possibly damaging	Het
Mroh3	A	G	1: 136,112,091 (GRCm39)	I759T	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Nol6	G	T	4: 41,118,154 (GRCm39)	P828T	probably benign	Het
Or1j15	G	A	2: 36,459,353 (GRCm39)	V248I	probably damaging	Het
Or4c3	A	G	2: 89,851,801 (GRCm39)	V203A	probably benign	Het
Or5m5	A	G	2: 85,814,651 (GRCm39)	I156V	probably benign	Het
Or8w1	A	G	2: 87,465,873 (GRCm39)	Y73H	probably damaging	Het
Ovgp1	A	C	3: 105,894,387 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,962,313 (GRCm39)	Q230L	possibly damaging	Het
Pkn1	C	T	8: 84,396,922 (GRCm39)	V910I	probably benign	Het
Plcb1	T	A	2: 135,167,722 (GRCm39)		probably null	Het
Ppp1r12c	A	G	7: 4,485,788 (GRCm39)		probably null	Het
Rassf5	T	A	1: 131,172,551 (GRCm39)	Q106L	possibly damaging	Het
Rfc1	T	C	5: 65,470,322 (GRCm39)	K62E	possibly damaging	Het
Sf3b1	C	T	1: 55,058,554 (GRCm39)	E12K	probably damaging	Het
Slc4a1ap	A	T	5: 31,705,982 (GRCm39)	D691V	probably benign	Het
Speg	T	A	1: 75,399,401 (GRCm39)	F2283I	probably benign	Het
Styxl2	A	T	1: 165,937,615 (GRCm39)		probably null	Het
Synj2	A	G	17: 6,084,114 (GRCm39)	K267E	probably damaging	Het
Tg	A	T	15: 66,711,211 (GRCm39)	Y991F	probably damaging	Het
Tlk1	A	T	2: 70,572,427 (GRCm39)	D380E	probably benign	Het
Trim43b	A	T	9: 88,967,418 (GRCm39)	L405H	probably damaging	Het
Ttf2	A	G	3: 100,863,576 (GRCm39)	I586T	probably damaging	Het
Ugt2b36	T	A	5: 87,229,445 (GRCm39)	R213S	probably damaging	Het
Vmn1r198	T	A	13: 22,538,577 (GRCm39)	M21K	probably benign	Het
Wdr35	A	T	12: 9,028,685 (GRCm39)	Y101F	probably benign	Het
Zfp367	T	C	13: 64,292,064 (GRCm39)	Y189C	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
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
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'- AGTGCCTGTGGTAAGACTGG -3'
(R):5'- TGTTAATACTCAGGACTCAGCAGC -3'

Sequencing Primer
(F):5'- GGCTGACCCTCAAGTTCTGTG -3'
(R):5'- AGGACTCAGCAGCTCGCAAG -3'

Posted On

2018-06-06