Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02349:Col5a3'

289430

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

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

IGL02349

Quality Score

Status

Chromosome

Chromosomal Location

20770050-20815067 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20772361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1533 (E1533G)

Ref Sequence

ENSEMBL: ENSMUSP00000004201 (fasta)

Gene Model

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

AlphaFold

Q9JLI2

Predicted Effect

unknown
Transcript: ENSMUST00000004201
AA Change: E1533G

SMART Domains

Protein: ENSMUSP00000004201
Gene: ENSMUSG00000004098
AA Change: E1533G

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,406,464 (GRCm38)	I484V	probably benign	Het
Acly	C	T	11: 100,519,679 (GRCm38)	E158K	probably benign	Het
Akap3	T	A	6: 126,860,263 (GRCm38)	D3E	probably benign	Het
Alg8	A	G	7: 97,379,894 (GRCm38)	N152S	possibly damaging	Het
Ano7	A	G	1: 93,391,490 (GRCm38)	T323A	probably benign	Het
Bmp1	T	C	14: 70,507,549 (GRCm38)	Y252C	possibly damaging	Het
Cacnb3	A	T	15: 98,640,961 (GRCm38)	K159*	probably null	Het
Capns2	T	A	8: 92,902,062 (GRCm38)	V193D	probably benign	Het
Cct2	A	G	10: 117,053,139 (GRCm38)	I48T	probably benign	Het
Cep152	A	G	2: 125,594,956 (GRCm38)	S555P	probably damaging	Het
Cyp17a1	A	G	19: 46,667,497 (GRCm38)	L451P	probably damaging	Het
Dgcr8	T	C	16: 18,280,306 (GRCm38)	E407G	possibly damaging	Het
Dhx57	T	A	17: 80,255,571 (GRCm38)	N876Y	probably damaging	Het
Dnah7b	T	A	1: 46,099,503 (GRCm38)	L235*	probably null	Het
Fgfr2	A	G	7: 130,242,606 (GRCm38)	Y50H	probably damaging	Het
Gars1	T	A	6: 55,048,064 (GRCm38)		probably benign	Het
Gfpt2	A	T	11: 49,807,703 (GRCm38)	I42F	probably benign	Het
Glcci1	A	G	6: 8,558,581 (GRCm38)	K35E	probably damaging	Het
Gpatch1	T	A	7: 35,307,255 (GRCm38)	M163L	probably damaging	Het
Gpr132	T	C	12: 112,852,855 (GRCm38)	Y117C	probably damaging	Het
Ints1	G	A	5: 139,768,468 (GRCm38)	P650S	probably damaging	Het
Itga2b	T	C	11: 102,461,363 (GRCm38)	D464G	probably damaging	Het
Kansl2	C	A	15: 98,529,446 (GRCm38)	G185C	probably damaging	Het
Kat6b	T	A	14: 21,637,593 (GRCm38)	M570K	probably damaging	Het
Macir	A	G	1: 97,646,052 (GRCm38)	L96P	probably damaging	Het
Map3k19	T	A	1: 127,823,769 (GRCm38)	D615V	possibly damaging	Het
Map3k7cl	A	G	16: 87,556,013 (GRCm38)		probably benign	Het
Msto1	A	C	3: 88,910,898 (GRCm38)	S360R	possibly damaging	Het
Myo15b	C	A	11: 115,863,105 (GRCm38)		probably benign	Het
Nhlrc2	T	C	19: 56,591,719 (GRCm38)	V428A	possibly damaging	Het
Or13a28	T	C	7: 140,638,471 (GRCm38)	F257L	probably benign	Het
Or1j19	A	C	2: 36,787,046 (GRCm38)	T174P	possibly damaging	Het
Or51a39	G	A	7: 102,714,126 (GRCm38)	R96C	probably damaging	Het
Or51f2	A	T	7: 102,877,909 (GRCm38)	Y263F	probably benign	Het
Or5p51	A	G	7: 107,845,605 (GRCm38)	S43P	probably benign	Het
Or8b12	T	A	9: 37,746,206 (GRCm38)	M24K	probably benign	Het
Pcm1	G	T	8: 41,288,155 (GRCm38)		probably null	Het
Plekhg3	A	T	12: 76,562,300 (GRCm38)	N149I	probably damaging	Het
Rbp3	C	A	14: 33,955,719 (GRCm38)	H541Q	probably damaging	Het
Rgp1	T	C	4: 43,581,236 (GRCm38)		probably null	Het
Scyl2	A	T	10: 89,657,938 (GRCm38)		probably benign	Het
Tas2r144	A	C	6: 42,216,076 (GRCm38)	H250P	probably benign	Het
Tmppe	T	C	9: 114,405,200 (GRCm38)	V189A	probably benign	Het
Trp53bp1	G	A	2: 121,199,074 (GRCm38)	S1875L	probably damaging	Het
Txnl4a	T	A	18: 80,218,729 (GRCm38)	L60H	probably damaging	Het
Upp2	A	G	2: 58,777,886 (GRCm38)	D217G	probably benign	Het
Vmn2r74	A	G	7: 85,952,516 (GRCm38)	L638P	probably damaging	Het
Vnn1	A	G	10: 23,898,503 (GRCm38)	N148S	possibly damaging	Het
Xrcc1	C	T	7: 24,567,042 (GRCm38)	Q241*	probably null	Het
Zfp990	A	G	4: 145,530,877 (GRCm38)		probably benign	Het

Other mutations in Col5a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Col5a3	APN	9	20,786,389 (GRCm38)	nonsense	probably null
IGL01548:Col5a3	APN	9	20,803,000 (GRCm38)	splice site	probably benign
IGL02164:Col5a3	APN	9	20,792,643 (GRCm38)	critical splice donor site	probably null
IGL02297:Col5a3	APN	9	20,772,154 (GRCm38)	missense	unknown
IGL02333:Col5a3	APN	9	20,799,306 (GRCm38)	missense	unknown
IGL02390:Col5a3	APN	9	20,776,996 (GRCm38)	missense	unknown
IGL02685:Col5a3	APN	9	20,772,205 (GRCm38)	missense	unknown
IGL02941:Col5a3	APN	9	20,804,666 (GRCm38)	missense	unknown
IGL03001:Col5a3	APN	9	20,807,744 (GRCm38)	missense	unknown
IGL03061:Col5a3	APN	9	20,797,572 (GRCm38)	critical splice donor site	probably null
IGL03102:Col5a3	APN	9	20,804,635 (GRCm38)	critical splice donor site	probably null
IGL03308:Col5a3	APN	9	20,808,379 (GRCm38)	missense	unknown
IGL03372:Col5a3	APN	9	20,775,328 (GRCm38)	missense	unknown
Guppy	UTSW	9	20,779,033 (GRCm38)	missense	probably damaging	1.00
minifish	UTSW	9	20,785,586 (GRCm38)	missense	probably damaging	0.99
R0002:Col5a3	UTSW	9	20,809,856 (GRCm38)	critical splice acceptor site	probably null
R0012:Col5a3	UTSW	9	20,777,108 (GRCm38)	splice site	probably benign
R0316:Col5a3	UTSW	9	20,775,325 (GRCm38)	missense	unknown
R0357:Col5a3	UTSW	9	20,807,768 (GRCm38)	splice site	probably benign
R0360:Col5a3	UTSW	9	20,772,466 (GRCm38)	missense	unknown
R0483:Col5a3	UTSW	9	20,782,481 (GRCm38)	splice site	probably null
R0485:Col5a3	UTSW	9	20,782,708 (GRCm38)	missense	probably damaging	0.99
R0627:Col5a3	UTSW	9	20,775,485 (GRCm38)	missense	unknown
R1035:Col5a3	UTSW	9	20,793,499 (GRCm38)	splice site	probably benign
R1051:Col5a3	UTSW	9	20,775,235 (GRCm38)	missense	unknown
R1295:Col5a3	UTSW	9	20,808,418 (GRCm38)	missense	unknown
R1438:Col5a3	UTSW	9	20,779,957 (GRCm38)	missense	probably damaging	0.99
R1622:Col5a3	UTSW	9	20,772,220 (GRCm38)	missense	unknown
R1668:Col5a3	UTSW	9	20,771,096 (GRCm38)	missense	unknown
R1680:Col5a3	UTSW	9	20,784,668 (GRCm38)	critical splice donor site	probably null
R2112:Col5a3	UTSW	9	20,809,777 (GRCm38)	missense	unknown
R2149:Col5a3	UTSW	9	20,771,270 (GRCm38)	missense	unknown
R2159:Col5a3	UTSW	9	20,771,310 (GRCm38)	missense	unknown
R2939:Col5a3	UTSW	9	20,795,658 (GRCm38)	missense	unknown
R3236:Col5a3	UTSW	9	20,807,653 (GRCm38)	missense	unknown
R3845:Col5a3	UTSW	9	20,808,377 (GRCm38)	missense	unknown
R4598:Col5a3	UTSW	9	20,774,559 (GRCm38)	critical splice donor site	probably null
R4599:Col5a3	UTSW	9	20,774,559 (GRCm38)	critical splice donor site	probably null
R4611:Col5a3	UTSW	9	20,814,896 (GRCm38)	unclassified	probably benign
R4713:Col5a3	UTSW	9	20,793,574 (GRCm38)	missense	unknown
R4723:Col5a3	UTSW	9	20,809,591 (GRCm38)	missense	unknown
R5209:Col5a3	UTSW	9	20,778,643 (GRCm38)	intron	probably benign
R5336:Col5a3	UTSW	9	20,799,301 (GRCm38)	missense	unknown
R5378:Col5a3	UTSW	9	20,797,576 (GRCm38)	missense	unknown
R5614:Col5a3	UTSW	9	20,783,476 (GRCm38)	splice site	probably benign
R5775:Col5a3	UTSW	9	20,801,072 (GRCm38)	missense	unknown
R5895:Col5a3	UTSW	9	20,772,442 (GRCm38)	missense	unknown
R6048:Col5a3	UTSW	9	20,807,619 (GRCm38)	missense	unknown
R6265:Col5a3	UTSW	9	20,793,764 (GRCm38)	missense	unknown
R6372:Col5a3	UTSW	9	20,785,586 (GRCm38)	missense	probably damaging	0.99
R6520:Col5a3	UTSW	9	20,774,052 (GRCm38)	missense	unknown
R6558:Col5a3	UTSW	9	20,779,033 (GRCm38)	missense	probably damaging	1.00
R6608:Col5a3	UTSW	9	20,774,019 (GRCm38)	missense	unknown
R6679:Col5a3	UTSW	9	20,779,033 (GRCm38)	missense	probably damaging	1.00
R6680:Col5a3	UTSW	9	20,779,033 (GRCm38)	missense	probably damaging	1.00
R6696:Col5a3	UTSW	9	20,779,033 (GRCm38)	missense	probably damaging	1.00
R6698:Col5a3	UTSW	9	20,779,033 (GRCm38)	missense	probably damaging	1.00
R6700:Col5a3	UTSW	9	20,779,033 (GRCm38)	missense	probably damaging	1.00
R6708:Col5a3	UTSW	9	20,775,035 (GRCm38)	missense	unknown
R6712:Col5a3	UTSW	9	20,779,033 (GRCm38)	missense	probably damaging	1.00
R6714:Col5a3	UTSW	9	20,779,033 (GRCm38)	missense	probably damaging	1.00
R6828:Col5a3	UTSW	9	20,798,452 (GRCm38)	missense	unknown
R7343:Col5a3	UTSW	9	20,793,946 (GRCm38)	critical splice donor site	probably null
R7431:Col5a3	UTSW	9	20,770,835 (GRCm38)	makesense	probably null
R7500:Col5a3	UTSW	9	20,800,289 (GRCm38)	missense	unknown
R7592:Col5a3	UTSW	9	20,797,393 (GRCm38)	missense	unknown
R7671:Col5a3	UTSW	9	20,775,086 (GRCm38)	critical splice acceptor site	probably null
R7957:Col5a3	UTSW	9	20,774,051 (GRCm38)	missense	unknown
R8510:Col5a3	UTSW	9	20,793,732 (GRCm38)	missense	unknown
R8979:Col5a3	UTSW	9	20,775,301 (GRCm38)	missense	unknown
R9050:Col5a3	UTSW	9	20,786,395 (GRCm38)	missense	probably damaging	1.00
R9052:Col5a3	UTSW	9	20,799,437 (GRCm38)	missense	unknown
R9072:Col5a3	UTSW	9	20,771,157 (GRCm38)	missense	unknown
R9341:Col5a3	UTSW	9	20,793,613 (GRCm38)	missense	unknown
R9343:Col5a3	UTSW	9	20,793,613 (GRCm38)	missense	unknown
R9529:Col5a3	UTSW	9	20,774,012 (GRCm38)	critical splice donor site	probably null
R9562:Col5a3	UTSW	9	20,803,133 (GRCm38)	missense	unknown
R9781:Col5a3	UTSW	9	20,809,976 (GRCm38)	missense	unknown
Z1177:Col5a3	UTSW	9	20,775,334 (GRCm38)	missense	unknown

Posted On

2015-04-16