Mutagenetix > Incidental Mutation

Incidental Mutation 'R7491:Col2a1'

580800

Institutional Source

Beutler Lab

Gene Symbol

Col2a1

Ensembl Gene

ENSMUSG00000022483

Gene Name

collagen, type II, alpha 1

Synonyms

Rgsc413, M100413, Rgsc856, Col2a-1, M100856, Del1, Col2a, Col2, Lpk

MMRRC Submission

045565-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97873483-97902525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97874040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1449 (V1449I)

Ref Sequence

ENSEMBL: ENSMUSP00000023123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023123]

AlphaFold

P28481

PDB Structure

ANTI CITRULLINATED COLLAGEN TYPE 2 ANTIBODY ACC4 IN COMPLEX WITH A CITRULLINATED PEPTIDE [X-RAY DIFFRACTION]
Crystal structure of the arthritogenic antibody M2139 (Fab fragment) in complex with the triple-helical J1 peptide [X-RAY DIFFRACTION]

Predicted Effect

not run
Transcript: ENSMUST00000023123
AA Change: V1449I

SMART Domains

Protein: ENSMUSP00000023123
Gene: ENSMUSG00000022483
AA Change: V1449I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWC	34	88	1.59e-21	SMART
Pfam:Collagen	115	175	1.3e-11	PFAM
Pfam:Collagen	199	260	7.2e-11	PFAM
Pfam:Collagen	258	317	1.3e-12	PFAM
Pfam:Collagen	312	377	4e-9	PFAM
low complexity region	395	411	N/A	INTRINSIC
low complexity region	416	451	N/A	INTRINSIC
internal_repeat_5	456	468	5.45e-5	PROSPERO
low complexity region	471	513	N/A	INTRINSIC
internal_repeat_3	516	619	3.99e-13	PROSPERO
internal_repeat_1	524	567	1.6e-17	PROSPERO
low complexity region	621	633	N/A	INTRINSIC
low complexity region	636	655	N/A	INTRINSIC
low complexity region	659	687	N/A	INTRINSIC
low complexity region	696	753	N/A	INTRINSIC
internal_repeat_5	756	768	5.45e-5	PROSPERO
low complexity region	783	804	N/A	INTRINSIC
Pfam:Collagen	852	918	1.1e-8	PFAM
Pfam:Collagen	876	941	1.9e-9	PFAM
Pfam:Collagen	900	966	2.4e-9	PFAM
Pfam:Collagen	983	1049	2.1e-10	PFAM
low complexity region	1062	1081	N/A	INTRINSIC
Pfam:Collagen	1101	1172	3.4e-9	PFAM
Pfam:Collagen	1158	1218	1.3e-9	PFAM
COLFI	1252	1487	3.06e-184	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type II collagen, the major component of cartilage and the vitreous humor of the eye. The encoded preproprotein forms homotrimeric, triple helical procollagen that undergoes proteolytic processing during fibirl formation. Mice harboring certain mutations in this gene exhibit severe chondrodysplasia characterized by short limbs and trunch, craniofacial deformities and cleft palate. A complete lack of the encoded protein in mice results in postnatal lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	T	2: 68,445,099 (GRCm39)		probably null	Het
5730522E02Rik	A	T	11: 25,719,014 (GRCm39)	V44E	unknown	Het
Adcy9	A	G	16: 4,236,673 (GRCm39)	L246S	possibly damaging	Het
Adk	C	T	14: 21,284,997 (GRCm39)	H123Y	probably damaging	Het
Adra1b	T	A	11: 43,726,794 (GRCm39)	D41V	probably benign	Het
Ankib1	T	G	5: 3,751,911 (GRCm39)	K710Q	probably damaging	Het
Aoc2	T	A	11: 101,219,203 (GRCm39)	V542D	probably benign	Het
Arhgef28	T	C	13: 98,081,194 (GRCm39)	N1221S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bmal1	T	C	7: 112,898,631 (GRCm39)	V353A	probably benign	Het
Cacna1a	C	A	8: 85,285,922 (GRCm39)	R856S	possibly damaging	Het
Cacna1c	T	C	6: 118,590,304 (GRCm39)	M1559V		Het
Cdh10	G	C	15: 19,013,445 (GRCm39)	E682Q	probably damaging	Het
Celsr1	T	C	15: 85,916,719 (GRCm39)	D418G	possibly damaging	Het
Cfap44	T	C	16: 44,291,111 (GRCm39)	L1537P	probably damaging	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Cpt2	A	G	4: 107,764,339 (GRCm39)	F475S	probably damaging	Het
Cpxm1	T	C	2: 130,235,487 (GRCm39)	T502A	probably benign	Het
Creb3l2	G	T	6: 37,356,794 (GRCm39)	T91N	probably benign	Het
D630045J12Rik	A	T	6: 38,119,601 (GRCm39)	S1714T	possibly damaging	Het
Dennd1c	C	A	17: 57,379,379 (GRCm39)	V246F	probably damaging	Het
Dse	A	G	10: 34,028,561 (GRCm39)	V843A	probably benign	Het
Ern2	C	A	7: 121,769,756 (GRCm39)	W810L	probably damaging	Het
Fer1l6	G	A	15: 58,472,281 (GRCm39)	D906N	probably damaging	Het
Fry	A	G	5: 150,389,791 (GRCm39)	E140G		Het
Galnt7	A	G	8: 58,005,552 (GRCm39)	V227A	probably damaging	Het
Gas2l3	A	G	10: 89,249,763 (GRCm39)	S452P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm826	A	T	2: 160,153,942 (GRCm39)	S34T	unknown	Het
Gzmk	A	T	13: 113,308,535 (GRCm39)	I222N	probably benign	Het
Hivep3	A	T	4: 119,956,027 (GRCm39)	T1448S	probably benign	Het
Hk1	T	C	10: 62,131,524 (GRCm39)	D278G	probably damaging	Het
Ipo7	C	A	7: 109,638,401 (GRCm39)	Q223K	possibly damaging	Het
Itga9	T	A	9: 118,598,179 (GRCm39)	I571N	probably damaging	Het
Itgb6	T	C	2: 60,450,720 (GRCm39)	Y573C	probably damaging	Het
Kmt2c	T	A	5: 25,489,562 (GRCm39)	H4459L	probably damaging	Het
Limch1	T	G	5: 67,211,580 (GRCm39)	S894R	probably damaging	Het
Lrit2	A	T	14: 36,790,867 (GRCm39)	Q182L	possibly damaging	Het
Mlph	A	T	1: 90,867,100 (GRCm39)	H374L	possibly damaging	Het
Mmrn2	A	G	14: 34,121,374 (GRCm39)	H748R	probably damaging	Het
Mrpl58	T	C	11: 115,301,092 (GRCm39)	V134A	possibly damaging	Het
Nae1	A	T	8: 105,244,871 (GRCm39)	D353E	probably benign	Het
Naip5	A	C	13: 100,353,579 (GRCm39)	F1227V	probably benign	Het
Nln	A	T	13: 104,205,831 (GRCm39)	F108I	probably damaging	Het
Nop16	C	T	13: 54,736,417 (GRCm39)	V94I	probably benign	Het
Nt5c1b	A	T	12: 10,424,903 (GRCm39)	T150S	probably benign	Het
Or10d4b	T	G	9: 39,535,268 (GRCm39)	I281S	possibly damaging	Het
Pcdha4	T	C	18: 37,087,689 (GRCm39)	V624A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,483 (GRCm39)	I513T	probably benign	Het
Prc1	A	T	7: 79,959,239 (GRCm39)		probably null	Het
Prpf4	T	A	4: 62,336,113 (GRCm39)	F280Y	probably damaging	Het
Ptprd	T	C	4: 76,051,392 (GRCm39)	E43G	probably benign	Het
Pum1	T	A	4: 130,446,485 (GRCm39)	D181E	probably benign	Het
Rab7	A	G	6: 87,990,624 (GRCm39)	S17P	probably damaging	Het
Rgs1	T	C	1: 144,121,134 (GRCm39)	Y179C	probably damaging	Het
Rrm1	T	C	7: 102,103,764 (GRCm39)	C238R	probably damaging	Het
Rusc2	T	A	4: 43,426,528 (GRCm39)	L1484Q	probably damaging	Het
Sall3	C	T	18: 81,015,920 (GRCm39)	M669I	probably benign	Het
Saxo1	A	C	4: 86,363,644 (GRCm39)	F280V	probably benign	Het
Scn2a	T	C	2: 65,532,352 (GRCm39)	S655P	probably damaging	Het
Senp6	G	T	9: 80,031,010 (GRCm39)	E571*	probably null	Het
Sin3b	C	G	8: 73,473,069 (GRCm39)	T463S	probably damaging	Het
Sirt7	C	A	11: 120,509,837 (GRCm39)	R349L	probably benign	Het
Skor1	T	C	9: 63,053,730 (GRCm39)	T80A	probably damaging	Het
Slc12a9	C	A	5: 137,321,082 (GRCm39)	A478S	probably damaging	Het
Slc25a23	T	A	17: 57,359,822 (GRCm39)	R310*	probably null	Het
Slco6c1	A	T	1: 97,055,579 (GRCm39)	H107Q	probably benign	Het
Slit2	A	G	5: 48,377,336 (GRCm39)	E455G	probably benign	Het
Smo	G	C	6: 29,736,119 (GRCm39)	G37A	probably damaging	Het
St6galnac1	T	C	11: 116,660,010 (GRCm39)	K101R	probably benign	Het
Stat1	C	A	1: 52,191,530 (GRCm39)	N628K	probably benign	Het
Syn2	A	T	6: 115,231,615 (GRCm39)	Y302F	probably benign	Het
Tapt1	T	G	5: 44,345,978 (GRCm39)	Q324P	probably damaging	Het
Tgoln1	C	T	6: 72,593,403 (GRCm39)	A26T	unknown	Het
Timm13	T	A	10: 80,736,378 (GRCm39)	T43S	probably benign	Het
Tnfrsf19	G	A	14: 61,242,654 (GRCm39)	P77S	possibly damaging	Het
Trem3	T	G	17: 48,564,969 (GRCm39)	F157V	probably benign	Het
Trgv3	T	A	13: 19,427,016 (GRCm39)	M1K	probably null	Het
Trim33	T	A	3: 103,233,464 (GRCm39)	S420T	probably benign	Het
Trip11	T	C	12: 101,851,694 (GRCm39)	K790R	probably damaging	Het
Trnt1	A	G	6: 106,755,865 (GRCm39)	T307A	probably benign	Het
Tshz1	T	C	18: 84,033,766 (GRCm39)	Y214C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,827 (GRCm39)	T117S	probably benign	Het
Vmn2r45	A	G	7: 8,484,342 (GRCm39)	Y488H	probably benign	Het
Vwa8	A	T	14: 79,320,254 (GRCm39)	K1088N	probably benign	Het
Wdr35	T	C	12: 9,036,000 (GRCm39)	V257A	probably benign	Het
Zfp189	T	A	4: 49,521,569 (GRCm39)	S3T	probably benign	Het
Zscan22	G	A	7: 12,640,833 (GRCm39)	C359Y	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,812 (GRCm39)	R283*	probably null	Het

Other mutations in Col2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Col2a1	APN	15	97,874,054 (GRCm39)	missense	unknown
IGL01286:Col2a1	APN	15	97,892,759 (GRCm39)	missense	unknown
IGL01369:Col2a1	APN	15	97,875,707 (GRCm39)	missense	unknown
IGL01747:Col2a1	APN	15	97,889,273 (GRCm39)	splice site	probably benign
IGL02086:Col2a1	APN	15	97,884,618 (GRCm39)	splice site	probably null
IGL02549:Col2a1	APN	15	97,875,680 (GRCm39)	missense	unknown
IGL03289:Col2a1	APN	15	97,878,762 (GRCm39)	missense	unknown
IGL03369:Col2a1	APN	15	97,879,923 (GRCm39)	missense	unknown
Foreseen	UTSW	15	97,874,674 (GRCm39)	missense	unknown
FR4304:Col2a1	UTSW	15	97,886,862 (GRCm39)	splice site	probably null
FR4340:Col2a1	UTSW	15	97,886,862 (GRCm39)	splice site	probably null
FR4342:Col2a1	UTSW	15	97,886,862 (GRCm39)	splice site	probably null
FR4589:Col2a1	UTSW	15	97,886,862 (GRCm39)	splice site	probably null
LCD18:Col2a1	UTSW	15	97,886,862 (GRCm39)	splice site	probably null
R0124:Col2a1	UTSW	15	97,896,743 (GRCm39)	missense	unknown
R0227:Col2a1	UTSW	15	97,874,636 (GRCm39)	missense	unknown
R0690:Col2a1	UTSW	15	97,878,073 (GRCm39)	missense	unknown
R1434:Col2a1	UTSW	15	97,877,532 (GRCm39)	missense	probably damaging	0.96
R1473:Col2a1	UTSW	15	97,880,789 (GRCm39)	splice site	probably benign
R1577:Col2a1	UTSW	15	97,877,083 (GRCm39)	missense	probably damaging	1.00
R1598:Col2a1	UTSW	15	97,877,131 (GRCm39)	missense	probably damaging	0.99
R1837:Col2a1	UTSW	15	97,894,522 (GRCm39)	splice site	probably benign
R2153:Col2a1	UTSW	15	97,885,461 (GRCm39)	missense	unknown
R2965:Col2a1	UTSW	15	97,873,976 (GRCm39)	missense	unknown
R2966:Col2a1	UTSW	15	97,873,976 (GRCm39)	missense	unknown
R3710:Col2a1	UTSW	15	97,888,788 (GRCm39)	splice site	probably benign
R3838:Col2a1	UTSW	15	97,898,462 (GRCm39)	intron	probably benign
R3838:Col2a1	UTSW	15	97,886,857 (GRCm39)	missense	unknown
R4112:Col2a1	UTSW	15	97,881,582 (GRCm39)	missense	probably benign	0.18
R4417:Col2a1	UTSW	15	97,896,466 (GRCm39)	missense	unknown
R4656:Col2a1	UTSW	15	97,874,057 (GRCm39)	missense	unknown
R4960:Col2a1	UTSW	15	97,874,030 (GRCm39)	missense	unknown
R5008:Col2a1	UTSW	15	97,877,550 (GRCm39)	missense	probably benign	0.28
R5435:Col2a1	UTSW	15	97,898,391 (GRCm39)	intron	probably benign
R5473:Col2a1	UTSW	15	97,885,370 (GRCm39)	missense	unknown
R6042:Col2a1	UTSW	15	97,898,451 (GRCm39)	intron	probably benign
R6118:Col2a1	UTSW	15	97,896,448 (GRCm39)	missense	unknown
R6183:Col2a1	UTSW	15	97,886,671 (GRCm39)	missense	unknown
R6187:Col2a1	UTSW	15	97,886,671 (GRCm39)	missense	unknown
R6401:Col2a1	UTSW	15	97,883,773 (GRCm39)	missense	unknown
R6550:Col2a1	UTSW	15	97,874,674 (GRCm39)	missense	unknown
R6568:Col2a1	UTSW	15	97,875,157 (GRCm39)	missense	unknown
R6988:Col2a1	UTSW	15	97,902,335 (GRCm39)	missense	unknown
R7060:Col2a1	UTSW	15	97,874,022 (GRCm39)	missense	unknown
R7069:Col2a1	UTSW	15	97,896,469 (GRCm39)	missense	unknown
R7167:Col2a1	UTSW	15	97,898,337 (GRCm39)	missense	unknown
R7294:Col2a1	UTSW	15	97,885,168 (GRCm39)	splice site	probably null
R7392:Col2a1	UTSW	15	97,878,032 (GRCm39)	nonsense	probably null
R7583:Col2a1	UTSW	15	97,874,065 (GRCm39)	missense	unknown
R7665:Col2a1	UTSW	15	97,874,581 (GRCm39)	missense	unknown
R7872:Col2a1	UTSW	15	97,898,458 (GRCm39)	nonsense	probably null
R8177:Col2a1	UTSW	15	97,874,654 (GRCm39)	missense	unknown
R8306:Col2a1	UTSW	15	97,888,849 (GRCm39)	critical splice acceptor site	probably null
R9343:Col2a1	UTSW	15	97,877,775 (GRCm39)	missense	probably damaging	0.99
R9458:Col2a1	UTSW	15	97,876,242 (GRCm39)	missense	unknown
Z1177:Col2a1	UTSW	15	97,896,226 (GRCm39)	missense	unknown
Z1177:Col2a1	UTSW	15	97,881,854 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2019-10-17