Mutagenetix > Incidental Mutations

Incidental Mutation 'R2016:Col4a2'

223028

Institutional Source

Beutler Lab

Gene Symbol

Col4a2

Ensembl Gene

ENSMUSG00000031503

Gene Name

collagen, type IV, alpha 2

Synonyms

Col4a-2

MMRRC Submission

040025-MU

Accession Numbers

Genbank: NM_009932

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11312805-11449287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11445086 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1515 (F1515L)

Ref Sequence

ENSEMBL: ENSMUSP00000033899 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033899
AA Change: F1515L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: F1515L

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: ENSMUST00000146219

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 165,079,026	D29G	unknown	Het
Abca13	A	T	11: 9,290,619	L827F	probably damaging	Het
Abca8a	A	G	11: 110,070,387	F570L	probably damaging	Het
Adck1	T	A	12: 88,461,092	I493N	probably damaging	Het
Adra2c	T	C	5: 35,280,312	C143R	probably damaging	Het
Akap13	C	T	7: 75,704,531	T1800M	probably damaging	Het
Angpt2	T	C	8: 18,705,731	N240S	probably damaging	Het
Apob	G	A	12: 8,007,751	D2078N	possibly damaging	Het
Atp8b1	T	C	18: 64,540,334	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,836,621	D189G	probably damaging	Het
Bcam	G	A	7: 19,760,349	T374M	probably benign	Het
Blm	T	C	7: 80,505,926	D335G	probably benign	Het
Cbfa2t2	T	C	2: 154,517,807	L264P	probably damaging	Het
Csf2ra	T	G	19: 61,226,893	M95L	probably benign	Het
Cyp2c70	T	A	19: 40,164,412	T300S	possibly damaging	Het
Cyp4f15	A	T	17: 32,702,159	H440L	probably damaging	Het
Dcaf1	T	A	9: 106,839,088	D360E	probably benign	Het
Ddr2	T	C	1: 169,984,968	M652V	probably damaging	Het
Dnah2	T	A	11: 69,437,070	I3370F	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Efemp1	G	T	11: 28,921,613	R376L	probably damaging	Het
Efl1	A	C	7: 82,753,709	D673A	probably damaging	Het
Eid1	A	G	2: 125,673,201	M4V	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Emilin3	G	A	2: 160,909,610	R170C	possibly damaging	Het
Erap1	T	C	13: 74,664,151	W362R	probably damaging	Het
Fam208b	A	T	13: 3,576,770	I1060K	probably benign	Het
Fam234a	A	G	17: 26,218,316	F91L	probably benign	Het
Fam71e2	A	T	7: 4,759,398	I244N	probably damaging	Het
Flnc	G	A	6: 29,443,797		probably null	Het
Fsip2	A	G	2: 82,982,732	K3132E	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably benign	Het
Gnl3	A	G	14: 31,016,369		probably null	Het
Has1	A	T	17: 17,848,270	I274N	probably damaging	Het
Itsn1	T	C	16: 91,905,501		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Kif13a	T	C	13: 46,810,799	D475G	probably benign	Het
Klhl20	A	T	1: 161,103,038	M298K	probably damaging	Het
Kynu	G	T	2: 43,604,277	G241*	probably null	Het
Lrif1	G	T	3: 106,732,206	L202F	possibly damaging	Het
Lrp5	T	C	19: 3,610,056	K1003E	probably benign	Het
Mamdc2	T	C	19: 23,334,029	D487G	probably damaging	Het
Mapk8ip1	A	G	2: 92,391,034		probably null	Het
Mettl25	T	A	10: 105,797,306	E425D	probably benign	Het
Midn	G	T	10: 80,150,115	R13L	possibly damaging	Het
Mtmr9	T	C	14: 63,540,264	Y136C	possibly damaging	Het
Mylk	G	A	16: 34,996,817	V61M	probably damaging	Het
Nalcn	T	C	14: 123,594,581		probably null	Het
Nle1	G	T	11: 82,905,547	P166Q	probably damaging	Het
Nr4a3	G	A	4: 48,083,252	C595Y	probably damaging	Het
Olfr1133	C	T	2: 87,646,052	V24M	probably benign	Het
Olfr1288	G	T	2: 111,479,187	M134I	probably benign	Het
Olfr724	A	G	14: 49,960,502	I190T	probably benign	Het
Olfr906	A	T	9: 38,488,013		probably null	Het
Olfr963	A	G	9: 39,669,555	Y166C	probably damaging	Het
Pds5a	T	A	5: 65,648,007		probably null	Het
Pitpnm1	T	C	19: 4,111,873	V955A	probably benign	Het
Plcb1	T	A	2: 135,362,420	I898N	possibly damaging	Het
Plcl2	G	A	17: 50,606,694	V244M	probably damaging	Het
Plk1	A	G	7: 122,162,440	K257R	probably damaging	Het
Prkcg	A	T	7: 3,323,550	T460S	probably damaging	Het
Prl7d1	G	A	13: 27,710,173	H138Y	probably damaging	Het
Prss35	A	G	9: 86,755,512	S112G	probably benign	Het
Ptprj	C	T	2: 90,464,614	V417M	probably damaging	Het
Pwwp2b	A	T	7: 139,256,151	I503F	possibly damaging	Het
Rasgrp2	T	C	19: 6,413,165	V498A	probably benign	Het
Sall1	A	G	8: 89,028,409	V1314A	probably benign	Het
Sema6c	A	G	3: 95,171,234	I549V	probably benign	Het
Slc17a1	A	G	13: 23,878,539	S230G	probably benign	Het
Slc5a4a	T	G	10: 76,153,580	F106V	probably benign	Het
Spata5	T	C	3: 37,578,762	V839A	possibly damaging	Het
Stat6	T	C	10: 127,650,796	L147P	probably damaging	Het
Taar7d	T	A	10: 24,027,744	S175T	probably benign	Het
Tmem132b	A	G	5: 125,623,016	Q206R	probably benign	Het
Tmem229a	T	C	6: 24,955,062	D231G	probably benign	Het
Trim66	A	G	7: 109,472,232		probably null	Het
Ttc30a1	A	G	2: 75,981,457	L94P	probably benign	Het
Ttll9	A	T	2: 153,002,294	E374V	probably damaging	Het
Vmn2r69	A	T	7: 85,407,285	D548E	probably damaging	Het
Zcchc2	T	A	1: 106,004,121		probably null	Het
Zfp282	T	A	6: 47,897,787		probably null	Het
Zfp352	A	G	4: 90,225,171	E516G	probably benign	Het

Other mutations in Col4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Col4a2	APN	8	11443685	missense	probably damaging	1.00
IGL00485:Col4a2	APN	8	11439012	missense	probably benign
IGL00909:Col4a2	APN	8	11448167	missense	possibly damaging	0.91
IGL01574:Col4a2	APN	8	11439306	missense	probably damaging	1.00
IGL01914:Col4a2	APN	8	11414754	missense	possibly damaging	0.57
IGL02147:Col4a2	APN	8	11408140	missense	probably benign	0.28
IGL02205:Col4a2	APN	8	11431305	nonsense	probably null
IGL02423:Col4a2	APN	8	11433800	missense	probably benign
IGL03131:Col4a2	APN	8	11425979	missense	probably benign
band	UTSW	8	11448225	missense	probably benign	0.00
binder	UTSW	8	11416070	missense	probably damaging	1.00
G4846:Col4a2	UTSW	8	11408872	splice site	probably benign
IGL03054:Col4a2	UTSW	8	11448270	missense	probably damaging	0.96
R0087:Col4a2	UTSW	8	11441296	missense	probably benign
R0124:Col4a2	UTSW	8	11408871	splice site	probably benign
R0603:Col4a2	UTSW	8	11414779	missense	probably benign
R0646:Col4a2	UTSW	8	11431252	missense	probably benign	0.17
R0970:Col4a2	UTSW	8	11415438	missense	probably benign	0.00
R1738:Col4a2	UTSW	8	11446238	missense	probably damaging	1.00
R1746:Col4a2	UTSW	8	11446020	missense	probably benign	0.35
R1826:Col4a2	UTSW	8	11313509	critical splice donor site	probably null
R1834:Col4a2	UTSW	8	11402997	missense	probably benign	0.10
R2017:Col4a2	UTSW	8	11445086	missense	probably benign	0.04
R2124:Col4a2	UTSW	8	11416070	missense	probably damaging	1.00
R2137:Col4a2	UTSW	8	11433749	missense	probably benign
R2207:Col4a2	UTSW	8	11443352	missense	probably damaging	1.00
R3156:Col4a2	UTSW	8	11313414	unclassified	probably benign
R4169:Col4a2	UTSW	8	11429391	missense	probably benign	0.22
R4679:Col4a2	UTSW	8	11431337	missense	possibly damaging	0.68
R4705:Col4a2	UTSW	8	11313504	missense	possibly damaging	0.52
R4710:Col4a2	UTSW	8	11409462	missense	probably benign	0.22
R4716:Col4a2	UTSW	8	11402224	missense	probably damaging	1.00
R4730:Col4a2	UTSW	8	11437590	missense	probably benign
R4732:Col4a2	UTSW	8	11414779	missense	probably benign
R4732:Col4a2	UTSW	8	11446197	missense	probably benign	0.02
R4733:Col4a2	UTSW	8	11414779	missense	probably benign
R4733:Col4a2	UTSW	8	11446197	missense	probably benign	0.02
R4834:Col4a2	UTSW	8	11406836	nonsense	probably null
R4835:Col4a2	UTSW	8	11423570	nonsense	probably null
R4953:Col4a2	UTSW	8	11429505	missense	probably benign	0.02
R5078:Col4a2	UTSW	8	11443936	missense	probably benign
R5204:Col4a2	UTSW	8	11398651	splice site	probably null
R5221:Col4a2	UTSW	8	11448225	missense	probably benign	0.00
R5355:Col4a2	UTSW	8	11445984	missense	probably damaging	0.96
R5478:Col4a2	UTSW	8	11398697	missense	probably benign	0.21
R5492:Col4a2	UTSW	8	11438608	missense	possibly damaging	0.82
R5646:Col4a2	UTSW	8	11441281	missense	probably damaging	1.00
R5857:Col4a2	UTSW	8	11425442	missense	probably damaging	1.00
R5948:Col4a2	UTSW	8	11420600	missense	probably benign	0.21
R6329:Col4a2	UTSW	8	11446238	missense	probably damaging	1.00
R6496:Col4a2	UTSW	8	11402993	nonsense	probably null
R6496:Col4a2	UTSW	8	11402994	missense	probably damaging	1.00
R6531:Col4a2	UTSW	8	11408135	missense	probably benign	0.00
R7185:Col4a2	UTSW	8	11399739	missense	probably damaging	0.99
R7196:Col4a2	UTSW	8	11398693	missense	probably damaging	1.00
R7266:Col4a2	UTSW	8	11425542	critical splice donor site	probably null
R7308:Col4a2	UTSW	8	11406856	critical splice donor site	probably null
R7341:Col4a2	UTSW	8	11398678	missense	probably damaging	0.97
R7394:Col4a2	UTSW	8	11446184	missense	probably benign	0.00
R7434:Col4a2	UTSW	8	11421250	missense	probably damaging	1.00
R7606:Col4a2	UTSW	8	11443571	missense	probably benign	0.00
R7646:Col4a2	UTSW	8	11445086	missense	probably benign	0.04
R7712:Col4a2	UTSW	8	11425376	missense	probably benign
R7752:Col4a2	UTSW	8	11429358	missense	probably benign	0.38
R7844:Col4a2	UTSW	8	11425453	nonsense	probably null
R7901:Col4a2	UTSW	8	11429358	missense	probably benign	0.38
R8186:Col4a2	UTSW	8	11425542	critical splice donor site	probably null
R8331:Col4a2	UTSW	8	11413985	nonsense	probably null
R8389:Col4a2	UTSW	8	11448132	missense	probably damaging	1.00
R8547:Col4a2	UTSW	8	11429305	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGTTTCACAGCAGCTGAAC -3'
(R):5'- GGGTATAGTAAGATTTCTGTCTCCATG -3'

Sequencing Primer
(F):5'- GGTTTCACAGCAGCTGAACAATATC -3'
(R):5'- GTAAGATTTCTGTCTCCATGGCCAC -3'

Posted On

2014-08-25