Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03372:Col5a3'

420362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col5a3

Ensembl Gene

ENSMUSG00000004098

Gene Name

collagen, type V, alpha 3

Synonyms

Pro-alpha3(V)

Accession Numbers

Ncbi RefSeq: NM_016919.2; MGI:1858212

Is this an essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

20770050-20815067 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20775328 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1334 (P1334S)

Ref Sequence

ENSEMBL: ENSMUSP00000004201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004201]

Predicted Effect

unknown
Transcript: ENSMUST00000004201
AA Change: P1334S

SMART Domains

Protein: ENSMUSP00000004201
Gene: ENSMUSG00000004098
AA Change: P1334S

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TSPN	32	211	7.08e-28	SMART
LamG	89	210	2.13e-2	SMART
low complexity region	247	267	N/A	INTRINSIC
low complexity region	295	314	N/A	INTRINSIC
low complexity region	341	347	N/A	INTRINSIC
low complexity region	369	381	N/A	INTRINSIC
low complexity region	391	434	N/A	INTRINSIC
low complexity region	461	474	N/A	INTRINSIC
Pfam:Collagen	475	538	5.5e-10	PFAM
low complexity region	597	616	N/A	INTRINSIC
low complexity region	628	694	N/A	INTRINSIC
internal_repeat_3	703	737	7.13e-16	PROSPERO
low complexity region	742	821	N/A	INTRINSIC
low complexity region	823	844	N/A	INTRINSIC
low complexity region	859	889	N/A	INTRINSIC
internal_repeat_2	892	1081	5.05e-17	PROSPERO
internal_repeat_1	996	1133	7.47e-22	PROSPERO
internal_repeat_3	1105	1139	7.13e-16	PROSPERO
low complexity region	1140	1165	N/A	INTRINSIC
low complexity region	1168	1255	N/A	INTRINSIC
low complexity region	1258	1282	N/A	INTRINSIC
low complexity region	1285	1306	N/A	INTRINSIC
low complexity region	1311	1418	N/A	INTRINSIC
Pfam:Collagen	1429	1491	9.5e-10	PFAM
COLFI	1508	1738	7.98e-92	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 5000519
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 130,017,569	A1161V	probably benign	Het
Alpi	A	G	1: 87,100,628		probably benign	Het
Asxl1	A	T	2: 153,400,413	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,348,047	I49V	probably benign	Het
Bod1l	T	C	5: 41,805,235		probably benign	Het
Ccl20	A	G	1: 83,117,876	M54V	probably benign	Het
Cep72	A	C	13: 74,043,518	L200V	possibly damaging	Het
Clic4	T	C	4: 135,218,614	D164G	probably damaging	Het
Dab2	T	C	15: 6,429,549	L293P	probably damaging	Het
Ddx50	A	T	10: 62,643,330	S140T	probably benign	Het
Dnah6	A	T	6: 73,075,850	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,902,666	E721G	probably damaging	Het
Esyt3	A	T	9: 99,336,056		probably benign	Het
Fat4	G	T	3: 38,889,134	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,910	I308V	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,733,249		probably benign	Het
Gm10109	A	T	7: 44,221,702		probably benign	Het
Gpd2	G	A	2: 57,355,507	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,535,715		probably benign	Het
Iqca	A	G	1: 90,144,969	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,849,563	L161R	probably damaging	Het
Kif19a	G	T	11: 114,779,218	V80L	probably damaging	Het
Kif21a	A	T	15: 90,956,376	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,873,886		probably benign	Het
Ksr2	T	A	5: 117,702,718	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,971,157		probably benign	Het
Larp1b	A	T	3: 41,024,527	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,342,249		probably benign	Het
Mdh1b	T	C	1: 63,719,995	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,681,813		probably benign	Het
Mvd	A	G	8: 122,443,374		probably benign	Het
Myo7b	C	T	18: 31,998,601	S514N	probably damaging	Het
Nav1	A	T	1: 135,450,903	I1610K	probably damaging	Het
Nbas	T	C	12: 13,534,472	L2095P	probably damaging	Het
Nrros	T	C	16: 32,144,770	N115S	probably damaging	Het
Olfr472	T	C	7: 107,903,370	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,567,492	E150K	probably damaging	Het
Pan2	T	A	10: 128,315,127	L771Q	probably benign	Het
Pbrm1	T	A	14: 31,085,019	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,320,660	R31L	probably benign	Het
Proser3	A	C	7: 30,543,568	S195A	probably damaging	Het
Rad50	T	C	11: 53,695,294	K292E	probably benign	Het
Rbm27	G	A	18: 42,305,716	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314	I649T	probably damaging	Het
Skint3	G	A	4: 112,255,906		probably benign	Het
Slc4a4	T	A	5: 89,156,426	L576Q	probably damaging	Het
Snx2	A	G	18: 53,216,391	D408G	probably damaging	Het
Taar2	T	C	10: 23,941,171	V203A	probably benign	Het
Tdrd6	C	T	17: 43,625,568	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,619,470	L515R	probably damaging	Het
Unc13a	A	T	8: 71,655,709	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,880,569	D76G	probably benign	Het
Whrn	T	C	4: 63,418,618	D127G	probably damaging	Het

Other mutations in Col5a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Col5a3	APN	9	20786389	nonsense	probably null
IGL01548:Col5a3	APN	9	20803000	splice site	probably benign
IGL02164:Col5a3	APN	9	20792643	critical splice donor site	probably null
IGL02297:Col5a3	APN	9	20772154	missense	unknown
IGL02333:Col5a3	APN	9	20799306	missense	unknown
IGL02349:Col5a3	APN	9	20772361	missense	unknown
IGL02390:Col5a3	APN	9	20776996	missense	unknown
IGL02685:Col5a3	APN	9	20772205	missense	unknown
IGL02941:Col5a3	APN	9	20804666	missense	unknown
IGL03001:Col5a3	APN	9	20807744	missense	unknown
IGL03061:Col5a3	APN	9	20797572	critical splice donor site	probably null
IGL03102:Col5a3	APN	9	20804635	critical splice donor site	probably null
IGL03308:Col5a3	APN	9	20808379	missense	unknown
R0002:Col5a3	UTSW	9	20809856	critical splice acceptor site	probably null
R0012:Col5a3	UTSW	9	20777108	splice site	probably benign
R0316:Col5a3	UTSW	9	20775325	missense	unknown
R0357:Col5a3	UTSW	9	20807768	splice site	probably benign
R0360:Col5a3	UTSW	9	20772466	missense	unknown
R0483:Col5a3	UTSW	9	20782481	splice site	probably null
R0485:Col5a3	UTSW	9	20782708	missense	probably damaging	0.99
R0627:Col5a3	UTSW	9	20775485	missense	unknown
R1035:Col5a3	UTSW	9	20793499	splice site	probably benign
R1051:Col5a3	UTSW	9	20775235	missense	unknown
R1295:Col5a3	UTSW	9	20808418	missense	unknown
R1438:Col5a3	UTSW	9	20779957	missense	probably damaging	0.99
R1622:Col5a3	UTSW	9	20772220	missense	unknown
R1668:Col5a3	UTSW	9	20771096	missense	unknown
R1680:Col5a3	UTSW	9	20784668	critical splice donor site	probably null
R2112:Col5a3	UTSW	9	20809777	missense	unknown
R2149:Col5a3	UTSW	9	20771270	missense	unknown
R2159:Col5a3	UTSW	9	20771310	missense	unknown
R2939:Col5a3	UTSW	9	20795658	missense	unknown
R3236:Col5a3	UTSW	9	20807653	missense	unknown
R3845:Col5a3	UTSW	9	20808377	missense	unknown
R4598:Col5a3	UTSW	9	20774559	critical splice donor site	probably null
R4599:Col5a3	UTSW	9	20774559	critical splice donor site	probably null
R4611:Col5a3	UTSW	9	20814896	unclassified	probably benign
R4713:Col5a3	UTSW	9	20793574	missense	unknown
R4723:Col5a3	UTSW	9	20809591	missense	unknown
R5209:Col5a3	UTSW	9	20778643	intron	probably benign
R5336:Col5a3	UTSW	9	20799301	missense	unknown
R5378:Col5a3	UTSW	9	20797576	missense	unknown
R5614:Col5a3	UTSW	9	20783476	splice site	probably benign
R5775:Col5a3	UTSW	9	20801072	missense	unknown
R5895:Col5a3	UTSW	9	20772442	missense	unknown
R6048:Col5a3	UTSW	9	20807619	missense	unknown
R6265:Col5a3	UTSW	9	20793764	missense	unknown
R6372:Col5a3	UTSW	9	20785586	missense	probably damaging	0.99
R6520:Col5a3	UTSW	9	20774052	missense	unknown
R6558:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6608:Col5a3	UTSW	9	20774019	missense	unknown
R6679:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6680:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6696:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6698:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6700:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6708:Col5a3	UTSW	9	20775035	missense	unknown
R6712:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6714:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6828:Col5a3	UTSW	9	20798452	missense	unknown
R7343:Col5a3	UTSW	9	20793946	critical splice donor site	probably null
R7431:Col5a3	UTSW	9	20770835	makesense	probably null
R7500:Col5a3	UTSW	9	20800289	missense	unknown
R7592:Col5a3	UTSW	9	20797393	missense	unknown
R7671:Col5a3	UTSW	9	20775086	critical splice acceptor site	probably null
Z1177:Col5a3	UTSW	9	20775334	missense	unknown

Posted On

2016-08-02