Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02147:Col4a2'

281802

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 #

IGL02147

Quality Score

Status

Chromosome

Chromosomal Location

11362805-11499287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11458140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 272 (Y272F)

Ref Sequence

ENSEMBL: ENSMUSP00000033899 (fasta)

Gene Model

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

AlphaFold

P08122

Predicted Effect

probably benign
Transcript: ENSMUST00000033899
AA Change: Y272F

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: Y272F

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	C	19: 24,042,327 (GRCm39)		noncoding transcript	Het
Acadsb	T	A	7: 131,027,610 (GRCm39)		probably benign	Het
Ambra1	A	G	2: 91,598,064 (GRCm39)	H75R	probably benign	Het
Arhgef28	T	A	13: 98,097,822 (GRCm39)	I931F	probably damaging	Het
Cdk5	T	C	5: 24,625,318 (GRCm39)	N165D	probably benign	Het
Csde1	T	A	3: 102,947,250 (GRCm39)	D67E	probably damaging	Het
Dhx34	T	C	7: 15,937,928 (GRCm39)	H724R	probably benign	Het
Dhx57	T	C	17: 80,567,752 (GRCm39)	D777G	possibly damaging	Het
Fat3	A	C	9: 15,907,281 (GRCm39)	V2907G	probably damaging	Het
Fst	T	C	13: 114,590,896 (GRCm39)	Y290C	probably damaging	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Igkv4-92	C	T	6: 68,732,236 (GRCm39)	S46N	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Lgalsl2	T	A	7: 5,362,732 (GRCm39)	I121N	probably damaging	Het
Lmtk2	A	G	5: 144,093,754 (GRCm39)	M244V	possibly damaging	Het
Mcoln1	T	C	8: 3,558,379 (GRCm39)	F211S	probably benign	Het
Mib2	C	A	4: 155,742,144 (GRCm39)	R209L	probably benign	Het
Msx3	C	A	7: 139,628,798 (GRCm39)	V39L	possibly damaging	Het
Mtnr1b	A	G	9: 15,774,672 (GRCm39)	F129S	probably damaging	Het
Nr3c2	A	G	8: 77,635,696 (GRCm39)	S266G	probably damaging	Het
Nup160	G	T	2: 90,534,285 (GRCm39)	L703F	probably benign	Het
Or10c1	T	A	17: 37,521,877 (GRCm39)	Y289F	probably damaging	Het
Or5t5	A	G	2: 86,616,494 (GRCm39)	N140S	probably benign	Het
Pcyt1a	T	A	16: 32,280,916 (GRCm39)	N105K	probably damaging	Het
Pdhx	A	G	2: 102,860,686 (GRCm39)		probably benign	Het
Qpct	T	C	17: 79,378,145 (GRCm39)	V105A	probably damaging	Het
Ros1	A	C	10: 51,996,991 (GRCm39)	F1227C	probably damaging	Het
Rrp12	A	T	19: 41,874,620 (GRCm39)	V342E	probably damaging	Het
Sart3	A	G	5: 113,901,004 (GRCm39)		probably benign	Het
Slc6a18	T	A	13: 73,816,281 (GRCm39)	K366M	probably damaging	Het
Smarca4	A	G	9: 21,546,999 (GRCm39)	N175D	probably damaging	Het
Sox14	T	C	9: 99,757,598 (GRCm39)	K47R	probably damaging	Het
Trcg1	A	T	9: 57,153,132 (GRCm39)	I592F	probably benign	Het
Ush2a	T	C	1: 188,596,900 (GRCm39)	M3880T	probably benign	Het
Usp20	T	C	2: 30,896,413 (GRCm39)	F172S	probably damaging	Het
Vmn2r4	C	T	3: 64,305,782 (GRCm39)		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
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
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