Mutagenetix > Incidental Mutation

Incidental Mutation 'R8186:Col4a2'

634865

Institutional Source

Beutler Lab

Gene Symbol

Col4a2

Ensembl Gene

ENSMUSG00000031503

Gene Name

collagen, type IV, alpha 2

Synonyms

Col4a-2

MMRRC Submission

067609-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8186 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11362805-11499287 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 11475542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033899 (fasta)

Gene Model

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

AlphaFold

P08122

Predicted Effect

probably null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (43/43)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	G	A	6: 86,085,002 (GRCm39)	V543M	probably benign	Het
Agl	A	G	3: 116,552,557 (GRCm39)	I459T	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Atg16l2	C	T	7: 100,945,714 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,177,457 (GRCm39)	T1921A	probably damaging	Het
C130073F10Rik	G	A	4: 101,748,031 (GRCm39)	R48*	probably null	Het
Cdc25b	C	T	2: 131,031,050 (GRCm39)	T125M	probably benign	Het
Cdc42bpg	T	A	19: 6,356,895 (GRCm39)	F50L	probably damaging	Het
Chd9	T	A	8: 91,725,233 (GRCm39)	D1187E	unknown	Het
Cped1	T	C	6: 22,123,587 (GRCm39)	S447P	probably benign	Het
Ddx19a	T	A	8: 111,710,274 (GRCm39)	M109L	probably benign	Het
Def8	C	A	8: 124,188,215 (GRCm39)	Y431*	probably null	Het
Gata4	A	G	14: 63,438,962 (GRCm39)	S373P	probably benign	Het
Gm9837	A	T	11: 53,361,136 (GRCm39)	L26*	probably null	Het
Hspa1b	A	T	17: 35,176,557 (GRCm39)	V476E	probably damaging	Het
Htr5b	G	A	1: 121,456,108 (GRCm39)		probably benign	Het
Hydin	T	C	8: 111,336,277 (GRCm39)	V5018A	probably benign	Het
Ighv1-85	A	G	12: 115,963,923 (GRCm39)	S26P	probably benign	Het
Kics2	T	A	10: 121,581,247 (GRCm39)	F83I	possibly damaging	Het
Lrrc2	A	G	9: 110,789,910 (GRCm39)	K56E	possibly damaging	Het
Macf1	A	T	4: 123,266,219 (GRCm39)	I6793N	probably damaging	Het
Macf1	A	C	4: 123,275,923 (GRCm39)	V6215G	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,716,355 (GRCm39)		probably null	Het
Odad4	A	G	11: 100,454,505 (GRCm39)	D430G	probably benign	Het
Oprk1	A	T	1: 5,672,540 (GRCm39)	M226L	probably benign	Het
Or1e1	T	C	11: 73,245,247 (GRCm39)	S223P	possibly damaging	Het
Phf2	A	G	13: 48,961,227 (GRCm39)	L821P	unknown	Het
Rdh7	C	A	10: 127,723,284 (GRCm39)		probably null	Het
Rpl11	A	G	4: 135,778,968 (GRCm39)	V74A	possibly damaging	Het
Safb2	G	A	17: 56,873,051 (GRCm39)	R790C	possibly damaging	Het
Sgpp2	T	C	1: 78,393,609 (GRCm39)	F204S	probably benign	Het
Sgsm3	A	C	15: 80,893,643 (GRCm39)	I426L	possibly damaging	Het
Speer1b	A	G	5: 11,823,926 (GRCm39)	D158G	probably damaging	Het
Styxl2	A	G	1: 165,927,648 (GRCm39)	S655P	probably damaging	Het
Tbccd1	A	G	16: 22,637,189 (GRCm39)	L545P	probably damaging	Het
Toporsl	T	A	4: 52,610,489 (GRCm39)	F127L	probably damaging	Het
Ttn	T	G	2: 76,749,256 (GRCm39)	Q3931P	probably damaging	Het
Tuba1c	C	A	15: 98,935,396 (GRCm39)	L286I	probably benign	Het
Usp48	A	G	4: 137,348,507 (GRCm39)	R528G	possibly damaging	Het
Utrn	T	C	10: 12,573,867 (GRCm39)	T1068A	probably benign	Het
Vmn2r103	A	T	17: 20,032,205 (GRCm39)	T660S	probably damaging	Het
Vmn2r105	G	T	17: 20,444,880 (GRCm39)	Y537*	probably null	Het
Vmn2r88	A	T	14: 51,656,157 (GRCm39)	I744F		Het
Wnt9b	T	C	11: 103,621,601 (GRCm39)	E352G	probably damaging	Het
Zfp78	A	G	7: 6,376,228 (GRCm39)	N46D	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
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
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'- GATTCTCTTGCAGGGCGATG -3'
(R):5'- GTTGTACATTACAGCTGCCCAG -3'

Sequencing Primer
(F):5'- TTGCAGGGCGATGGCATC -3'
(R):5'- TGCCCAGCAGAGAGGATG -3'

Posted On

2020-07-13