Mutagenetix > Incidental Mutation

Incidental Mutation 'R6698:Col5a3'

528652

Institutional Source

Beutler Lab

Gene Symbol

Col5a3

Ensembl Gene

ENSMUSG00000004098

Gene Name

collagen, type V, alpha 3

Synonyms

Pro-alpha3(V)

MMRRC Submission

044816-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R6698 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20681353-20726363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20690329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1162 (G1162R)

Ref Sequence

ENSEMBL: ENSMUSP00000004201 (fasta)

Gene Model

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

AlphaFold

Q9JLI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000004201
AA Change: G1162R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000004201
Gene: ENSMUSG00000004098
AA Change: G1162R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145974

Meta Mutation Damage Score

0.8243

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

95% (40/42)

MGI Phenotype

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brca2	T	C	5: 150,455,859 (GRCm39)	V200A	probably damaging	Het
Camk2g	T	A	14: 20,792,776 (GRCm39)	K393*	probably null	Het
Catsperb	T	A	12: 101,475,466 (GRCm39)	F337I	probably damaging	Het
Cdk17	T	C	10: 93,064,540 (GRCm39)	Y270H	probably damaging	Het
Col6a5	T	A	9: 105,811,374 (GRCm39)	N715I	unknown	Het
Fancg	A	G	4: 43,007,034 (GRCm39)	S248P	probably benign	Het
Flvcr1	T	C	1: 190,757,929 (GRCm39)	Y79C	probably damaging	Het
Gabrp	A	G	11: 33,507,017 (GRCm39)	S198P	probably damaging	Het
Gask1b	A	G	3: 79,843,902 (GRCm39)	I10V	probably damaging	Het
Glp1r	A	G	17: 31,155,375 (GRCm39)	Y454C	probably damaging	Het
Gpr158	A	C	2: 21,831,921 (GRCm39)	D1007A	probably damaging	Het
Gsdmc3	A	G	15: 63,732,120 (GRCm39)	F302S	possibly damaging	Het
Gsdmc4	T	A	15: 63,765,613 (GRCm39)	D312V	probably benign	Het
Itga5	T	C	15: 103,259,808 (GRCm39)	Y663C	probably benign	Het
Kif1b	A	T	4: 149,359,413 (GRCm39)	M108K	probably damaging	Het
Klf11	T	G	12: 24,703,618 (GRCm39)	S18A	probably damaging	Het
Lmtk2	T	C	5: 144,111,737 (GRCm39)	V819A	probably benign	Het
Lrba	A	G	3: 86,211,732 (GRCm39)	M451V	probably damaging	Het
Lrp1b	T	C	2: 41,192,958 (GRCm39)	D488G	probably damaging	Het
Mark4	T	C	7: 19,163,362 (GRCm39)	N589S	probably benign	Het
Mis12	T	C	11: 70,916,012 (GRCm39)	F15S	probably damaging	Het
Nif3l1	A	G	1: 58,489,648 (GRCm39)	D179G	probably benign	Het
Nlrx1	A	G	9: 44,177,104 (GRCm39)	W3R	probably damaging	Het
Nup210l	G	A	3: 90,089,815 (GRCm39)	S1194N	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,778,136 (GRCm39)	T154S	probably benign	Het
Or5d20-ps1	A	G	2: 87,931,561 (GRCm39)	F257L	unknown	Het
Pnkd	T	A	1: 74,389,836 (GRCm39)	L320Q	probably damaging	Het
Prkn	A	G	17: 11,286,183 (GRCm39)		probably null	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Homo
Rilpl2	C	T	5: 124,607,843 (GRCm39)	E126K	probably damaging	Het
Rpn2	T	C	2: 157,139,330 (GRCm39)	I208T	possibly damaging	Het
Skint4	G	T	4: 111,977,096 (GRCm39)	C170F	probably damaging	Het
Synj1	C	G	16: 90,757,340 (GRCm39)	V877L	probably damaging	Het
Tcp11	A	T	17: 28,290,804 (GRCm39)	I106N	possibly damaging	Het
Tg	A	G	15: 66,711,211 (GRCm39)	Y991C	probably damaging	Het
Trib3	A	G	2: 152,180,339 (GRCm39)	S285P	probably damaging	Het
Wdr49	A	T	3: 75,336,673 (GRCm39)	W345R	probably benign	Het
Wnt5a	A	G	14: 28,240,420 (GRCm39)	Y190C	possibly damaging	Het
Xpo1	A	G	11: 23,244,040 (GRCm39)	E955G	probably benign	Het

Other mutations in Col5a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Col5a3	APN	9	20,697,685 (GRCm39)	nonsense	probably null
IGL01548:Col5a3	APN	9	20,714,296 (GRCm39)	splice site	probably benign
IGL02164:Col5a3	APN	9	20,703,939 (GRCm39)	critical splice donor site	probably null
IGL02297:Col5a3	APN	9	20,683,450 (GRCm39)	missense	unknown
IGL02333:Col5a3	APN	9	20,710,602 (GRCm39)	missense	unknown
IGL02349:Col5a3	APN	9	20,683,657 (GRCm39)	missense	unknown
IGL02390:Col5a3	APN	9	20,688,292 (GRCm39)	missense	unknown
IGL02685:Col5a3	APN	9	20,683,501 (GRCm39)	missense	unknown
IGL02941:Col5a3	APN	9	20,715,962 (GRCm39)	missense	unknown
IGL03001:Col5a3	APN	9	20,719,040 (GRCm39)	missense	unknown
IGL03061:Col5a3	APN	9	20,708,868 (GRCm39)	critical splice donor site	probably null
IGL03102:Col5a3	APN	9	20,715,931 (GRCm39)	critical splice donor site	probably null
IGL03308:Col5a3	APN	9	20,719,675 (GRCm39)	missense	unknown
IGL03372:Col5a3	APN	9	20,686,624 (GRCm39)	missense	unknown
Guppy	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
minifish	UTSW	9	20,696,882 (GRCm39)	missense	probably damaging	0.99
R0002:Col5a3	UTSW	9	20,721,152 (GRCm39)	critical splice acceptor site	probably null
R0012:Col5a3	UTSW	9	20,688,404 (GRCm39)	splice site	probably benign
R0316:Col5a3	UTSW	9	20,686,621 (GRCm39)	missense	unknown
R0357:Col5a3	UTSW	9	20,719,064 (GRCm39)	splice site	probably benign
R0360:Col5a3	UTSW	9	20,683,762 (GRCm39)	missense	unknown
R0483:Col5a3	UTSW	9	20,693,777 (GRCm39)	splice site	probably null
R0485:Col5a3	UTSW	9	20,694,004 (GRCm39)	missense	probably damaging	0.99
R0627:Col5a3	UTSW	9	20,686,781 (GRCm39)	missense	unknown
R1035:Col5a3	UTSW	9	20,704,795 (GRCm39)	splice site	probably benign
R1051:Col5a3	UTSW	9	20,686,531 (GRCm39)	missense	unknown
R1295:Col5a3	UTSW	9	20,719,714 (GRCm39)	missense	unknown
R1438:Col5a3	UTSW	9	20,691,253 (GRCm39)	missense	probably damaging	0.99
R1622:Col5a3	UTSW	9	20,683,516 (GRCm39)	missense	unknown
R1668:Col5a3	UTSW	9	20,682,392 (GRCm39)	missense	unknown
R1680:Col5a3	UTSW	9	20,695,964 (GRCm39)	critical splice donor site	probably null
R2112:Col5a3	UTSW	9	20,721,073 (GRCm39)	missense	unknown
R2149:Col5a3	UTSW	9	20,682,566 (GRCm39)	missense	unknown
R2159:Col5a3	UTSW	9	20,682,606 (GRCm39)	missense	unknown
R2939:Col5a3	UTSW	9	20,706,954 (GRCm39)	missense	unknown
R3236:Col5a3	UTSW	9	20,718,949 (GRCm39)	missense	unknown
R3845:Col5a3	UTSW	9	20,719,673 (GRCm39)	missense	unknown
R4598:Col5a3	UTSW	9	20,685,855 (GRCm39)	critical splice donor site	probably null
R4599:Col5a3	UTSW	9	20,685,855 (GRCm39)	critical splice donor site	probably null
R4611:Col5a3	UTSW	9	20,726,192 (GRCm39)	unclassified	probably benign
R4713:Col5a3	UTSW	9	20,704,870 (GRCm39)	missense	unknown
R4723:Col5a3	UTSW	9	20,720,887 (GRCm39)	missense	unknown
R5209:Col5a3	UTSW	9	20,689,939 (GRCm39)	intron	probably benign
R5336:Col5a3	UTSW	9	20,710,597 (GRCm39)	missense	unknown
R5378:Col5a3	UTSW	9	20,708,872 (GRCm39)	missense	unknown
R5614:Col5a3	UTSW	9	20,694,772 (GRCm39)	splice site	probably benign
R5775:Col5a3	UTSW	9	20,712,368 (GRCm39)	missense	unknown
R5895:Col5a3	UTSW	9	20,683,738 (GRCm39)	missense	unknown
R6048:Col5a3	UTSW	9	20,718,915 (GRCm39)	missense	unknown
R6265:Col5a3	UTSW	9	20,705,060 (GRCm39)	missense	unknown
R6372:Col5a3	UTSW	9	20,696,882 (GRCm39)	missense	probably damaging	0.99
R6520:Col5a3	UTSW	9	20,685,348 (GRCm39)	missense	unknown
R6558:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6608:Col5a3	UTSW	9	20,685,315 (GRCm39)	missense	unknown
R6679:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6680:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6696:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6700:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6708:Col5a3	UTSW	9	20,686,331 (GRCm39)	missense	unknown
R6712:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6714:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6828:Col5a3	UTSW	9	20,709,748 (GRCm39)	missense	unknown
R7343:Col5a3	UTSW	9	20,705,242 (GRCm39)	critical splice donor site	probably null
R7431:Col5a3	UTSW	9	20,682,131 (GRCm39)	makesense	probably null
R7500:Col5a3	UTSW	9	20,711,585 (GRCm39)	missense	unknown
R7592:Col5a3	UTSW	9	20,708,689 (GRCm39)	missense	unknown
R7671:Col5a3	UTSW	9	20,686,382 (GRCm39)	critical splice acceptor site	probably null
R7957:Col5a3	UTSW	9	20,685,347 (GRCm39)	missense	unknown
R8510:Col5a3	UTSW	9	20,705,028 (GRCm39)	missense	unknown
R8979:Col5a3	UTSW	9	20,686,597 (GRCm39)	missense	unknown
R9050:Col5a3	UTSW	9	20,697,691 (GRCm39)	missense	probably damaging	1.00
R9052:Col5a3	UTSW	9	20,710,733 (GRCm39)	missense	unknown
R9072:Col5a3	UTSW	9	20,682,453 (GRCm39)	missense	unknown
R9341:Col5a3	UTSW	9	20,704,909 (GRCm39)	missense	unknown
R9343:Col5a3	UTSW	9	20,704,909 (GRCm39)	missense	unknown
R9529:Col5a3	UTSW	9	20,685,308 (GRCm39)	critical splice donor site	probably null
R9562:Col5a3	UTSW	9	20,714,429 (GRCm39)	missense	unknown
R9781:Col5a3	UTSW	9	20,721,272 (GRCm39)	missense	unknown
Z1177:Col5a3	UTSW	9	20,686,630 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGTCAAAGAACCAAATAGTGTGC -3'
(R):5'- GAGAATACGTGTGTGCGCAC -3'

Sequencing Primer
(F):5'- ATAGTGTGCAATGACTCCCC -3'
(R):5'- GATTTGGTCACTGACTTCCAGCAAG -3'

Posted On

2018-07-24