Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02423:Col4a2'

292787

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

Genbank: NM_009932

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02423

Quality Score

Status

Chromosome

Chromosomal Location

11312805-11449287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11433800 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 907 (M907V)

Ref Sequence

ENSEMBL: ENSMUSP00000033899 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033899
AA Change: M907V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: M907V

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Abca6	A	G	11: 110,219,006		probably benign	Het
Adarb2	A	T	13: 8,569,720	R81W	probably damaging	Het
Adgrf4	T	C	17: 42,672,576	I72V	probably benign	Het
Banp	A	G	8: 122,007,091	I360V	probably benign	Het
Bmp8a	C	A	4: 123,316,427	G289C	possibly damaging	Het
Car3	A	T	3: 14,866,851	H94L	probably damaging	Het
Ccdc137	G	A	11: 120,460,101	R108H	possibly damaging	Het
Cdk14	T	C	5: 4,888,905	N411S	probably benign	Het
Cyp4f17	T	A	17: 32,506,949	W19R	possibly damaging	Het
Dmxl2	A	G	9: 54,393,748	S2360P	possibly damaging	Het
Eif2d	T	G	1: 131,153,360		probably benign	Het
Epx	A	G	11: 87,871,318	I369T	possibly damaging	Het
Fcgbp	A	G	7: 28,089,953	E648G	probably benign	Het
Fer1l4	G	A	2: 156,052,907	P14L	probably benign	Het
Folr1	A	G	7: 101,858,525	F236S	probably benign	Het
Foxj2	T	G	6: 122,842,773	M540R	possibly damaging	Het
Gm14025	T	C	2: 129,048,048	E42G	probably benign	Het
Gtf2h1	A	G	7: 46,815,400	T420A	probably benign	Het
H2-T3	T	A	17: 36,187,356	T222S	probably damaging	Het
Ice1	A	T	13: 70,592,599	M2163K	probably damaging	Het
Inppl1	A	G	7: 101,832,243	V244A	probably benign	Het
Kansl3	A	T	1: 36,351,969	V373D	probably damaging	Het
Kdm3a	A	G	6: 71,614,003		probably benign	Het
Krtap1-3	A	T	11: 99,590,854	C156S	unknown	Het
Mab21l3	T	C	3: 101,818,729	D317G	probably damaging	Het
Nox3	T	C	17: 3,682,916	H240R	probably damaging	Het
Nxn	A	T	11: 76,274,032	S218T	probably benign	Het
Olfr190	A	T	16: 59,074,267	I271K	probably benign	Het
Olfr781	G	A	10: 129,333,528	V216I	probably benign	Het
Pcdhb13	T	C	18: 37,444,339	V590A	possibly damaging	Het
Pim3	T	C	15: 88,863,531	V200A	probably benign	Het
Plekha3	T	C	2: 76,680,180	F20L	probably damaging	Het
Pmp22	G	T	11: 63,158,292	R120S	possibly damaging	Het
Ppp1r9a	A	C	6: 4,906,537	D364A	probably benign	Het
Psd	A	G	19: 46,314,504	F155L	possibly damaging	Het
Rbm22	T	C	18: 60,571,819		probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Ryr2	A	T	13: 11,745,198	F1556I	probably damaging	Het
Scap	G	A	9: 110,378,617	A465T	probably benign	Het
Sdf2	A	G	11: 78,251,018	S60G	probably damaging	Het
Sema3a	T	C	5: 13,565,809	I400T	probably damaging	Het
Ski	T	C	4: 155,159,734	D478G	probably damaging	Het
Slc12a7	A	T	13: 73,763,763		probably benign	Het
Slc9a3r1	A	G	11: 115,163,713		probably null	Het
Sned1	A	G	1: 93,283,600	T1074A	probably benign	Het
Srebf2	A	G	15: 82,175,097	T239A	probably damaging	Het
Stk4	C	T	2: 164,086,499	H84Y	probably benign	Het
Syne1	G	T	10: 5,368,295	Q444K	probably benign	Het
Tecpr1	T	A	5: 144,203,487	I817F	possibly damaging	Het
Tep1	G	T	14: 50,844,620	Q1159K	possibly damaging	Het
Tmem39b	G	A	4: 129,678,649	H387Y	probably damaging	Het
Tpp1	T	C	7: 105,749,700	H174R	probably damaging	Het
Ttn	C	T	2: 76,705,273	V35134I	probably benign	Het
Usp34	A	G	11: 23,354,900	I378V	probably benign	Het
Vmn2r1	T	A	3: 64,090,244	H440Q	probably benign	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Zcchc7	T	A	4: 44,931,244	D144E	possibly damaging	Het
Zic4	C	A	9: 91,384,175	H284N	probably damaging	Het
Zkscan6	A	G	11: 65,828,294	H380R	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
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
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

Posted On

2015-04-16