Mutagenetix > Incidental Mutations

Incidental Mutation 'R4835:Col4a2'

373159

Institutional Source

Beutler Lab

Gene Symbol

Col4a2

Ensembl Gene

ENSMUSG00000031503

Gene Name

collagen, type IV, alpha 2

Synonyms

Col4a-2

MMRRC Submission

042450-MU

Accession Numbers

Genbank: NM_009932

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4835 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11312805-11449287 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 11423570 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 534 (G534*)

Ref Sequence

ENSEMBL: ENSMUSP00000033899 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000033899
AA Change: G534*

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: G534*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (96/98)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,574,901		noncoding transcript	Het
4933434E20Rik	A	G	3: 90,063,209	N17D	probably benign	Het
A1bg	T	C	15: 60,920,251	D176G	probably benign	Het
Abcg5	A	T	17: 84,658,648	M428K	possibly damaging	Het
Adam1a	A	T	5: 121,519,689	C514S	probably damaging	Het
Angptl3	A	G	4: 99,037,412	Q325R	probably benign	Het
Ankrd26	C	T	6: 118,548,850	W378*	probably null	Het
Apob	T	C	12: 8,015,391	V4087A	possibly damaging	Het
Auts2	A	G	5: 131,466,093	I117T	probably damaging	Het
AW146154	T	A	7: 41,480,468	E408V	probably damaging	Het
Bicd1	A	T	6: 149,484,090	N107I	probably benign	Het
Blm	T	C	7: 80,509,546	S281G	probably benign	Het
Btaf1	T	A	19: 37,002,458	D1542E	probably benign	Het
C2cd2l	A	G	9: 44,315,145		probably null	Het
Capn8	C	A	1: 182,604,551	N362K	probably damaging	Het
Ccdc14	T	G	16: 34,705,038	S186A	probably damaging	Het
Cdca4	A	G	12: 112,821,547	L187P	probably damaging	Het
Chil6	T	A	3: 106,405,974	K20*	probably null	Het
Cmss1	A	T	16: 57,316,182	L109*	probably null	Het
Cmtm6	G	T	9: 114,731,342	W36L	probably benign	Het
Cnksr3	T	G	10: 7,160,757	I35L	possibly damaging	Het
Col5a1	T	G	2: 28,025,644	V180G	probably damaging	Het
Ctnna3	T	C	10: 63,581,944	F154L	probably benign	Het
Fabp7	G	A	10: 57,785,580	V50M	possibly damaging	Het
Fam170a	T	A	18: 50,281,983	V232D	probably damaging	Het
Fam186a	T	G	15: 99,945,808	T852P	unknown	Het
Fam20a	T	C	11: 109,673,563	I455V	probably benign	Het
Fbxl6	C	T	15: 76,536,804	V324M	probably damaging	Het
Galnt18	T	C	7: 111,779,523	T9A	probably damaging	Het
Golgb1	T	A	16: 36,891,407	M191K	possibly damaging	Het
Gpld1	A	G	13: 24,982,716	T650A	probably benign	Het
Gprc5d	A	G	6: 135,116,517	F131L	probably benign	Het
H2afv	C	T	11: 6,439,437	G7E	unknown	Het
Haus4	A	T	14: 54,545,835		probably null	Het
Helq	A	G	5: 100,774,163	I725T	possibly damaging	Het
Igsf23	T	A	7: 19,941,830	D117V	possibly damaging	Het
Kiz	A	T	2: 146,942,088	S514C	probably damaging	Het
Klhl6	A	T	16: 19,957,033	N258K	probably benign	Het
Krt72	G	C	15: 101,781,073		probably null	Het
Large1	A	T	8: 73,048,347	I245N	probably damaging	Het
Lrrc31	T	C	3: 30,679,157	I469M	probably damaging	Het
Lypd4	T	A	7: 24,866,696	I68F	probably benign	Het
Mast1	A	G	8: 84,923,779	S442P	probably damaging	Het
Mmp20	T	A	9: 7,645,299	H283Q	probably benign	Het
Mrps5	G	A	2: 127,603,707	V385M	possibly damaging	Het
Ms4a15	T	C	19: 10,979,226	K241E	possibly damaging	Het
Myt1	A	G	2: 181,797,462	E259G	probably damaging	Het
Myt1l	C	A	12: 29,895,305	T1023K	unknown	Het
Ncapd3	T	C	9: 27,086,046	L1221P	probably damaging	Het
Ncoa6	A	G	2: 155,407,133	V1417A	possibly damaging	Het
Nmnat1	A	G	4: 149,473,345	V80A	possibly damaging	Het
Nwd2	A	G	5: 63,807,846	E1591G	probably benign	Het
Olfr1057	A	G	2: 86,374,509	L301S	possibly damaging	Het
Olfr455	A	G	6: 42,538,836	F62S	probably damaging	Het
Osbpl1a	A	T	18: 12,768,536		probably null	Het
Papln	T	C	12: 83,774,420	I204T	probably damaging	Het
Phf1	A	G	17: 26,934,678	T97A	probably benign	Het
Plxnb1	A	G	9: 109,105,374	D890G	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Rbp2	G	A	9: 98,507,823	C96Y	probably damaging	Het
Rgmb	A	T	17: 15,807,362	M365K	possibly damaging	Het
Ric1	A	G	19: 29,595,536	N792S	possibly damaging	Het
Ruvbl1	T	C	6: 88,497,229	Y405H	possibly damaging	Het
Scaf4	A	G	16: 90,250,307	M394T	unknown	Het
Siglech	T	A	7: 55,768,429	C48*	probably null	Het
Skiv2l	A	G	17: 34,842,921	V695A	possibly damaging	Het
Slc2a5	A	G	4: 150,140,005	T320A	probably benign	Het
Slc6a7	T	C	18: 61,002,205	Y417C	probably benign	Het
Sox21	A	G	14: 118,234,924	C238R	possibly damaging	Het
Tbata	A	T	10: 61,183,353	K109N	probably damaging	Het
Tecpr2	T	G	12: 110,954,730	S1246A	probably benign	Het
Tekt3	A	G	11: 63,081,259	D247G	probably benign	Het
Tenm3	A	T	8: 48,313,236		probably null	Het
Thada	A	T	17: 84,441,104		probably null	Het
Tpcn2	C	T	7: 145,272,351	G204R	probably damaging	Het
Tpm2	T	C	4: 43,519,220		probably null	Het
Trbv24	T	C	6: 41,218,092		probably benign	Het
Tyw1	A	G	5: 130,277,058	R341G	probably benign	Het
Vmn1r183	T	G	7: 24,055,139	N122K	probably benign	Het
Vmn2r61	T	A	7: 42,267,035	H357Q	possibly damaging	Het
Vps13b	C	T	15: 35,869,372	T2674I	probably damaging	Het
Vps13b	T	C	15: 35,910,293	L3401P	probably benign	Het
Vps16	T	G	2: 130,438,300		probably benign	Het
Vrtn	T	A	12: 84,649,694	I406N	probably damaging	Het
Vwa8	A	T	14: 78,934,613	Y278F	probably benign	Het
Washc4	A	T	10: 83,579,512	I789F	possibly damaging	Het
Zbtb20	C	A	16: 43,618,398	T627K	probably damaging	Het
Zfyve16	A	T	13: 92,522,185	I406K	probably benign	Het
Zfyve9	A	C	4: 108,717,998	S629A	possibly damaging	Het
Zpld1	A	T	16: 55,248,255	N164K	probably damaging	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
R2016:Col4a2	UTSW	8	11445086	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- TCGTAACCACCTTCCTGAAGC -3'
(R):5'- TCCCGAGATGTCCAAAGAACAG -3'

Sequencing Primer
(F):5'- ACCTTCCTGAAGCCCACGG -3'
(R):5'- TTCATTCCGTGTACACCAGG -3'

Posted On

2016-03-01