Mutagenetix > Incidental Mutation

Incidental Mutation 'R1834:Col4a2'

205054

Institutional Source

Beutler Lab

Gene Symbol

Col4a2

Ensembl Gene

ENSMUSG00000031503

Gene Name

collagen, type IV, alpha 2

Synonyms

Col4a-2

MMRRC Submission

039861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11312805-11449287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11402997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 188 (E188G)

Ref Sequence

ENSEMBL: ENSMUSP00000033899 (fasta)

Gene Model

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

AlphaFold

P08122

Predicted Effect

probably benign
Transcript: ENSMUST00000033899
AA Change: E188G

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: E188G

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

0.1505

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

97% (116/119)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,487 (GRCm38)	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,707,898 (GRCm38)	S4C	unknown	Het
4933416C03Rik	T	C	10: 116,112,665 (GRCm38)	R319G	probably benign	Het
Abca3	A	T	17: 24,376,692 (GRCm38)	N340Y	probably benign	Het
Abcc1	A	G	16: 14,423,117 (GRCm38)	I513V	possibly damaging	Het
Acacb	C	T	5: 114,235,475 (GRCm38)	T1855M	probably damaging	Het
Ace	A	G	11: 105,986,094 (GRCm38)		probably benign	Het
Acss2	T	A	2: 155,558,630 (GRCm38)	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,317,231 (GRCm38)		probably benign	Het
Afm	T	A	5: 90,526,424 (GRCm38)	M265K	probably benign	Het
Agl	A	G	3: 116,788,351 (GRCm38)	F293S	probably benign	Het
Aox2	G	A	1: 58,308,991 (GRCm38)	A623T	probably benign	Het
Arhgap31	C	A	16: 38,603,703 (GRCm38)	S667I	probably benign	Het
Bco1	A	G	8: 117,117,437 (GRCm38)	T297A	probably benign	Het
Bmp1	T	C	14: 70,508,831 (GRCm38)	S123G	possibly damaging	Het
Caps2	G	A	10: 112,195,718 (GRCm38)	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,861,219 (GRCm38)	S845R	probably benign	Het
Cd209f	A	G	8: 4,104,491 (GRCm38)	S119P	probably damaging	Het
Chrna6	A	G	8: 27,407,214 (GRCm38)	S212P	probably benign	Het
Col10a1	G	C	10: 34,395,015 (GRCm38)	A328P	probably damaging	Het
Creb1	C	T	1: 64,550,950 (GRCm38)	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,966 (GRCm38)	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 104,168,101 (GRCm38)	S1102P	probably damaging	Het
Ddx31	C	T	2: 28,892,453 (GRCm38)	H603Y	probably damaging	Het
Ddx52	G	A	11: 83,959,497 (GRCm38)	C568Y	probably benign	Het
Dgki	C	A	6: 37,034,701 (GRCm38)		probably benign	Het
Dmrt1	A	T	19: 25,509,699 (GRCm38)	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,124 (GRCm38)	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,233,759 (GRCm38)	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,683,632 (GRCm38)	S678A	probably benign	Het
Ece1	C	T	4: 137,958,001 (GRCm38)	R601W	probably damaging	Het
Ece1	A	G	4: 137,958,128 (GRCm38)	N643S	probably damaging	Het
Eno1b	A	G	18: 48,047,463 (GRCm38)	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350 (GRCm38)	E312G	probably damaging	Het
Eya3	T	A	4: 132,707,118 (GRCm38)	V276E	probably damaging	Het
Fam161b	A	G	12: 84,348,778 (GRCm38)		probably benign	Het
Fem1c	C	T	18: 46,505,282 (GRCm38)	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,557,869 (GRCm38)	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,534,680 (GRCm38)	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,326,431 (GRCm38)	R103W	probably damaging	Het
Gm10030	C	T	9: 111,004,879 (GRCm38)		noncoding transcript	Het
Gm1966	A	T	7: 106,603,776 (GRCm38)	V87D	possibly damaging	Het
Gm3443	T	A	19: 21,555,679 (GRCm38)	H2Q	unknown	Het
Gm5800	T	C	14: 51,716,092 (GRCm38)	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,649,079 (GRCm38)	R9L	probably damaging	Het
Ica1l	A	G	1: 60,028,236 (GRCm38)		probably benign	Het
Ice1	G	A	13: 70,615,338 (GRCm38)	T167I	probably damaging	Het
Ifi204	T	A	1: 173,747,606 (GRCm38)	R618S	unknown	Het
Itga2	C	A	13: 114,856,726 (GRCm38)	K784N	probably damaging	Het
Itga2	T	A	13: 114,856,727 (GRCm38)	K784M	probably damaging	Het
Kif3b	A	G	2: 153,317,485 (GRCm38)	E402G	probably benign	Het
Lrp2	T	C	2: 69,466,880 (GRCm38)	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,453,518 (GRCm38)	L267I	probably damaging	Het
Map1s	A	G	8: 70,916,411 (GRCm38)	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,119,273 (GRCm38)	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,707,811 (GRCm38)	S16G	probably benign	Het
Nav3	T	C	10: 109,720,022 (GRCm38)	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,627,129 (GRCm38)	N2417S	probably damaging	Het
Neb	T	C	2: 52,236,895 (GRCm38)	N3605S	probably damaging	Het
Net1	A	T	13: 3,912,941 (GRCm38)		probably benign	Het
Nsd1	A	G	13: 55,313,351 (GRCm38)	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,370,187 (GRCm38)	I534N	probably damaging	Het
Nudt12	T	A	17: 59,011,076 (GRCm38)	H58L	probably damaging	Het
Ocrl	T	A	X: 47,962,116 (GRCm38)	I74N	probably damaging	Het
Olfr291	A	G	7: 84,856,482 (GRCm38)	T38A	probably damaging	Het
Olfr403	A	G	11: 74,195,653 (GRCm38)	H50R	probably benign	Het
Olfr695	A	G	7: 106,874,141 (GRCm38)	Y35H	probably damaging	Het
Olfr826	A	G	10: 130,180,832 (GRCm38)	I16T	probably benign	Het
Pef1	C	A	4: 130,121,173 (GRCm38)	C10*	probably null	Het
Phf21b	A	G	15: 84,797,346 (GRCm38)	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,820,945 (GRCm38)		probably null	Het
Pi16	A	G	17: 29,327,445 (GRCm38)	E399G	possibly damaging	Het
Pipox	A	T	11: 77,882,123 (GRCm38)	Y321N	probably damaging	Het
Plin4	A	G	17: 56,103,522 (GRCm38)	S1170P	probably damaging	Het
Pnma2	C	T	14: 66,917,213 (GRCm38)	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710 (GRCm38)	I738T	probably damaging	Het
Prkcsh	A	T	9: 22,008,338 (GRCm38)	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,163,659 (GRCm38)	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,015,213 (GRCm38)	T123A	probably benign	Het
Robo4	A	G	9: 37,413,059 (GRCm38)	D961G	probably benign	Het
Rps27a	A	G	11: 29,546,299 (GRCm38)	Y105H	probably benign	Het
Scaper	A	G	9: 55,816,734 (GRCm38)	Y641H	possibly damaging	Het
Scn1a	T	A	2: 66,324,617 (GRCm38)	Q666L	probably benign	Het
Scn1a	C	A	2: 66,324,616 (GRCm38)	Q666H	probably benign	Het
Sdhaf4	T	C	1: 24,003,153 (GRCm38)		probably null	Het
Sec14l3	A	G	11: 4,066,510 (GRCm38)		probably benign	Het
Selp	C	A	1: 164,128,160 (GRCm38)		probably null	Het
Sim1	A	G	10: 50,909,828 (GRCm38)	D259G	probably damaging	Het
Sptan1	T	A	2: 29,992,001 (GRCm38)		probably benign	Het
Sptbn4	T	A	7: 27,366,646 (GRCm38)	E679V	probably null	Het
Sytl3	G	A	17: 6,728,327 (GRCm38)	E169K	probably benign	Het
Taar1	T	C	10: 23,921,189 (GRCm38)	C262R	probably benign	Het
Tbc1d32	A	G	10: 56,017,604 (GRCm38)	I1291T	probably benign	Het
Tcrg-C3	A	G	13: 19,263,365 (GRCm38)	T163A	possibly damaging	Het
Tet1	G	A	10: 62,813,665 (GRCm38)	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,071,635 (GRCm38)	G7W	probably damaging	Het
Thada	A	G	17: 84,226,004 (GRCm38)	V1673A	possibly damaging	Het
Thbs4	A	G	13: 92,761,481 (GRCm38)	V610A	probably benign	Het
Tmem163	A	G	1: 127,677,509 (GRCm38)	S41P	probably benign	Het
Tmem65	A	T	15: 58,787,113 (GRCm38)	H200Q	probably damaging	Het
Trim62	T	C	4: 128,909,225 (GRCm38)	V356A	possibly damaging	Het
Ttn	C	T	2: 76,763,260 (GRCm38)	V20679I	probably benign	Het
Ttn	T	C	2: 76,732,158 (GRCm38)	D28781G	probably damaging	Het
Unc80	A	T	1: 66,639,248 (GRCm38)	T2063S	possibly damaging	Het
Vav3	A	G	3: 109,506,426 (GRCm38)	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,592,456 (GRCm38)	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,061,410 (GRCm38)	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,413,030 (GRCm38)		probably benign	Het
Vwa3a	A	G	7: 120,790,136 (GRCm38)	T66A	probably benign	Het
Xirp2	T	A	2: 67,511,140 (GRCm38)	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,911,530 (GRCm38)	T70M	probably damaging	Het
Zcchc6	A	T	13: 59,814,935 (GRCm38)	Y339*	probably null	Het
Zfp248	T	C	6: 118,428,970 (GRCm38)	T452A	probably damaging	Het
Zfp988	A	T	4: 147,332,887 (GRCm38)	I593F	probably damaging	Het

Other mutations in Col4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Col4a2	APN	8	11,443,685 (GRCm38)	missense	probably damaging	1.00
IGL00485:Col4a2	APN	8	11,439,012 (GRCm38)	missense	probably benign
IGL00909:Col4a2	APN	8	11,448,167 (GRCm38)	missense	possibly damaging	0.91
IGL01574:Col4a2	APN	8	11,439,306 (GRCm38)	missense	probably damaging	1.00
IGL01914:Col4a2	APN	8	11,414,754 (GRCm38)	missense	possibly damaging	0.57
IGL02147:Col4a2	APN	8	11,408,140 (GRCm38)	missense	probably benign	0.28
IGL02205:Col4a2	APN	8	11,431,305 (GRCm38)	nonsense	probably null
IGL02423:Col4a2	APN	8	11,433,800 (GRCm38)	missense	probably benign
IGL03131:Col4a2	APN	8	11,425,979 (GRCm38)	missense	probably benign
band	UTSW	8	11,448,225 (GRCm38)	missense	probably benign	0.00
Binder	UTSW	8	11,416,070 (GRCm38)	missense	probably damaging	1.00
G4846:Col4a2	UTSW	8	11,408,872 (GRCm38)	splice site	probably benign
IGL03054:Col4a2	UTSW	8	11,448,270 (GRCm38)	missense	probably damaging	0.96
R0087:Col4a2	UTSW	8	11,441,296 (GRCm38)	missense	probably benign
R0124:Col4a2	UTSW	8	11,408,871 (GRCm38)	splice site	probably benign
R0603:Col4a2	UTSW	8	11,414,779 (GRCm38)	missense	probably benign
R0646:Col4a2	UTSW	8	11,431,252 (GRCm38)	missense	probably benign	0.17
R0970:Col4a2	UTSW	8	11,415,438 (GRCm38)	missense	probably benign	0.00
R1738:Col4a2	UTSW	8	11,446,238 (GRCm38)	missense	probably damaging	1.00
R1746:Col4a2	UTSW	8	11,446,020 (GRCm38)	missense	probably benign	0.35
R1826:Col4a2	UTSW	8	11,313,509 (GRCm38)	critical splice donor site	probably null
R2016:Col4a2	UTSW	8	11,445,086 (GRCm38)	missense	probably benign	0.04
R2017:Col4a2	UTSW	8	11,445,086 (GRCm38)	missense	probably benign	0.04
R2124:Col4a2	UTSW	8	11,416,070 (GRCm38)	missense	probably damaging	1.00
R2137:Col4a2	UTSW	8	11,433,749 (GRCm38)	missense	probably benign
R2207:Col4a2	UTSW	8	11,443,352 (GRCm38)	missense	probably damaging	1.00
R3156:Col4a2	UTSW	8	11,313,414 (GRCm38)	unclassified	probably benign
R4169:Col4a2	UTSW	8	11,429,391 (GRCm38)	missense	probably benign	0.22
R4679:Col4a2	UTSW	8	11,431,337 (GRCm38)	missense	possibly damaging	0.68
R4705:Col4a2	UTSW	8	11,313,504 (GRCm38)	missense	possibly damaging	0.52
R4710:Col4a2	UTSW	8	11,409,462 (GRCm38)	missense	probably benign	0.22
R4716:Col4a2	UTSW	8	11,402,224 (GRCm38)	missense	probably damaging	1.00
R4730:Col4a2	UTSW	8	11,437,590 (GRCm38)	missense	probably benign
R4732:Col4a2	UTSW	8	11,446,197 (GRCm38)	missense	probably benign	0.02
R4732:Col4a2	UTSW	8	11,414,779 (GRCm38)	missense	probably benign
R4733:Col4a2	UTSW	8	11,446,197 (GRCm38)	missense	probably benign	0.02
R4733:Col4a2	UTSW	8	11,414,779 (GRCm38)	missense	probably benign
R4834:Col4a2	UTSW	8	11,406,836 (GRCm38)	nonsense	probably null
R4835:Col4a2	UTSW	8	11,423,570 (GRCm38)	nonsense	probably null
R4953:Col4a2	UTSW	8	11,429,505 (GRCm38)	missense	probably benign	0.02
R5078:Col4a2	UTSW	8	11,443,936 (GRCm38)	missense	probably benign
R5204:Col4a2	UTSW	8	11,398,651 (GRCm38)	splice site	probably null
R5221:Col4a2	UTSW	8	11,448,225 (GRCm38)	missense	probably benign	0.00
R5355:Col4a2	UTSW	8	11,445,984 (GRCm38)	missense	probably damaging	0.96
R5478:Col4a2	UTSW	8	11,398,697 (GRCm38)	missense	probably benign	0.21
R5492:Col4a2	UTSW	8	11,438,608 (GRCm38)	missense	possibly damaging	0.82
R5646:Col4a2	UTSW	8	11,441,281 (GRCm38)	missense	probably damaging	1.00
R5857:Col4a2	UTSW	8	11,425,442 (GRCm38)	missense	probably damaging	1.00
R5948:Col4a2	UTSW	8	11,420,600 (GRCm38)	missense	probably benign	0.21
R6329:Col4a2	UTSW	8	11,446,238 (GRCm38)	missense	probably damaging	1.00
R6496:Col4a2	UTSW	8	11,402,994 (GRCm38)	missense	probably damaging	1.00
R6496:Col4a2	UTSW	8	11,402,993 (GRCm38)	nonsense	probably null
R6531:Col4a2	UTSW	8	11,408,135 (GRCm38)	missense	probably benign	0.00
R7185:Col4a2	UTSW	8	11,399,739 (GRCm38)	missense	probably damaging	0.99
R7196:Col4a2	UTSW	8	11,398,693 (GRCm38)	missense	probably damaging	1.00
R7266:Col4a2	UTSW	8	11,425,542 (GRCm38)	critical splice donor site	probably null
R7308:Col4a2	UTSW	8	11,406,856 (GRCm38)	critical splice donor site	probably null
R7341:Col4a2	UTSW	8	11,398,678 (GRCm38)	missense	probably damaging	0.97
R7394:Col4a2	UTSW	8	11,446,184 (GRCm38)	missense	probably benign	0.00
R7434:Col4a2	UTSW	8	11,421,250 (GRCm38)	missense	probably damaging	1.00
R7606:Col4a2	UTSW	8	11,443,571 (GRCm38)	missense	probably benign	0.00
R7646:Col4a2	UTSW	8	11,445,086 (GRCm38)	missense	probably benign	0.04
R7712:Col4a2	UTSW	8	11,425,376 (GRCm38)	missense	probably benign
R7752:Col4a2	UTSW	8	11,429,358 (GRCm38)	missense	probably benign	0.38
R7844:Col4a2	UTSW	8	11,425,453 (GRCm38)	nonsense	probably null
R7901:Col4a2	UTSW	8	11,429,358 (GRCm38)	missense	probably benign	0.38
R8186:Col4a2	UTSW	8	11,425,542 (GRCm38)	critical splice donor site	probably null
R8331:Col4a2	UTSW	8	11,413,985 (GRCm38)	nonsense	probably null
R8389:Col4a2	UTSW	8	11,448,132 (GRCm38)	missense	probably damaging	1.00
R8547:Col4a2	UTSW	8	11,429,305 (GRCm38)	critical splice acceptor site	probably null
R8927:Col4a2	UTSW	8	11,425,543 (GRCm38)	splice site	probably null
R9051:Col4a2	UTSW	8	11,448,198 (GRCm38)	missense	probably damaging	1.00
R9088:Col4a2	UTSW	8	11,443,227 (GRCm38)	missense	possibly damaging	0.91
R9221:Col4a2	UTSW	8	11,441,943 (GRCm38)	missense	possibly damaging	0.89
R9323:Col4a2	UTSW	8	11,443,413 (GRCm38)	missense	possibly damaging	0.56
R9337:Col4a2	UTSW	8	11,429,346 (GRCm38)	missense	probably benign	0.00
R9377:Col4a2	UTSW	8	11,433,725 (GRCm38)	missense	probably damaging	1.00
R9697:Col4a2	UTSW	8	11,437,628 (GRCm38)	missense	probably benign	0.34
R9701:Col4a2	UTSW	8	11,443,104 (GRCm38)	missense	probably benign	0.00
R9729:Col4a2	UTSW	8	11,446,157 (GRCm38)	missense	probably benign	0.08
R9802:Col4a2	UTSW	8	11,443,104 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCAAAGCCAGTCAACTCTTA -3'
(R):5'- GGGGTGTCACCTCCAGATATATA -3'

Sequencing Primer
(F):5'- GGTTCAATAGCCATCCAGAGTTGC -3'
(R):5'- TACAGATGGTTATGAGCCACC -3'

Posted On

2014-06-23