Mutagenetix > Incidental Mutation

Incidental Mutation 'R2153:Col2a1'

234557

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

040156-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97873483-97902525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 97885461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 461 (A461S)

Ref Sequence

ENSEMBL: ENSMUSP00000085693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023123] [ENSMUST00000088355] [ENSMUST00000131560]

AlphaFold

P28481

Predicted Effect

unknown
Transcript: ENSMUST00000023123
AA Change: A529S

SMART Domains

Protein: ENSMUSP00000023123
Gene: ENSMUSG00000022483
AA Change: A529S

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

Predicted Effect

unknown
Transcript: ENSMUST00000088355
AA Change: A461S

SMART Domains

Protein: ENSMUSP00000085693
Gene: ENSMUSG00000022483
AA Change: A461S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Collagen	47	107	1.2e-11	PFAM
Pfam:Collagen	131	192	7.2e-11	PFAM
Pfam:Collagen	190	249	1.3e-12	PFAM
low complexity region	262	314	N/A	INTRINSIC
Pfam:Collagen	327	405	3.5e-7	PFAM
Pfam:Collagen	361	429	7.6e-10	PFAM
internal_repeat_3	448	551	1.3e-13	PROSPERO
internal_repeat_7	454	466	2.86e-5	PROSPERO
internal_repeat_1	456	499	4.05e-18	PROSPERO
internal_repeat_6	481	504	1.7e-5	PROSPERO
low complexity region	553	565	N/A	INTRINSIC
low complexity region	568	587	N/A	INTRINSIC
low complexity region	591	619	N/A	INTRINSIC
low complexity region	628	685	N/A	INTRINSIC
internal_repeat_4	688	712	8.3e-12	PROSPERO
low complexity region	715	736	N/A	INTRINSIC
low complexity region	747	784	N/A	INTRINSIC
Pfam:Collagen	808	878	9.8e-9	PFAM
Pfam:Collagen	832	898	2.1e-9	PFAM
Pfam:Collagen	916	979	7.2e-10	PFAM
Pfam:Collagen	937	1005	2.1e-8	PFAM
Pfam:Collagen	973	1049	6e-7	PFAM
Pfam:Collagen	1030	1094	1.5e-10	PFAM
Pfam:Collagen	1088	1150	1.4e-9	PFAM
COLFI	1184	1419	3.06e-184	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131560

SMART Domains

Protein: ENSMUSP00000116951
Gene: ENSMUSG00000022483

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWC	34	88	1.59e-21	SMART
low complexity region	109	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131910

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abcg2	T	A	6: 58,661,307 (GRCm39)		probably null	Het
Adgrg7	T	G	16: 56,572,791 (GRCm39)	I342L	possibly damaging	Het
Akap6	A	C	12: 53,188,187 (GRCm39)	D1867A	probably benign	Het
Ankrd17	A	T	5: 90,381,918 (GRCm39)	V2416D	probably damaging	Het
Apaf1	A	G	10: 90,883,952 (GRCm39)	V670A	probably damaging	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Atad5	T	A	11: 79,997,203 (GRCm39)	D842E	probably benign	Het
Brd10	T	C	19: 29,694,229 (GRCm39)	M1755V	probably benign	Het
Capns1	A	G	7: 29,891,765 (GRCm39)	L124P	probably damaging	Het
Carmil1	A	G	13: 24,325,656 (GRCm39)	S225P	probably damaging	Het
Cars2	C	T	8: 11,580,299 (GRCm39)	A247T	possibly damaging	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Ceacam14	C	A	7: 17,548,153 (GRCm39)	T81N	probably benign	Het
Ceacam16	G	A	7: 19,595,066 (GRCm39)	P4L	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntnap5c	A	T	17: 58,362,666 (GRCm39)	I340L	possibly damaging	Het
Comtd1	T	C	14: 21,898,340 (GRCm39)	E27G	possibly damaging	Het
Cyp2a12	A	G	7: 26,732,042 (GRCm39)	N261S	probably benign	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dlg5	A	T	14: 24,187,225 (GRCm39)	I1819N	probably damaging	Het
Elp1	T	A	4: 56,779,636 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,074,231 (GRCm39)	N772S	probably damaging	Het
Erich1	T	C	8: 14,128,773 (GRCm39)	T56A	probably benign	Het
Ermp1	T	C	19: 29,614,798 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,803,545 (GRCm39)	E807G	probably benign	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fbxw18	T	G	9: 109,522,438 (GRCm39)	T144P	probably damaging	Het
Flywch1	A	T	17: 23,974,624 (GRCm39)	I672K	probably benign	Het
Foxk2	C	A	11: 121,151,213 (GRCm39)	A86E	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gda	A	G	19: 21,374,869 (GRCm39)		probably null	Het
Gna15	T	C	10: 81,338,738 (GRCm39)	Y367C	probably damaging	Het
Golga3	A	G	5: 110,335,856 (GRCm39)		probably null	Het
Greb1	T	C	12: 16,749,533 (GRCm39)	S1098G	probably damaging	Het
Hook3	C	A	8: 26,560,225 (GRCm39)	L333F	probably damaging	Het
Il6	C	T	5: 30,218,502 (GRCm39)	Q33*	probably null	Het
Iqgap1	T	C	7: 80,401,701 (GRCm39)	E468G	probably benign	Het
Iqgap1	A	G	7: 80,409,651 (GRCm39)	I228T	possibly damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Kcnj10	A	T	1: 172,197,455 (GRCm39)	Y323F	possibly damaging	Het
Klk1b5	T	C	7: 43,869,322 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,157,951 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,443,862 (GRCm39)	T277S	possibly damaging	Het
Lrp5	A	T	19: 3,664,339 (GRCm39)	M796K	probably benign	Het
Med15	A	T	16: 17,503,315 (GRCm39)		probably null	Het
Mfn1	T	A	3: 32,596,975 (GRCm39)	H144Q	probably damaging	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Nmi	T	C	2: 51,842,555 (GRCm39)	E179G	probably damaging	Het
Nrxn2	T	C	19: 6,554,944 (GRCm39)	I1141T	probably damaging	Het
Olah	T	C	2: 3,366,306 (GRCm39)	S9G	probably benign	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or4c106	C	A	2: 88,683,128 (GRCm39)	P278H	probably damaging	Het
Or5b120	T	G	19: 13,479,852 (GRCm39)	I48M	probably damaging	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8k22	A	C	2: 86,162,872 (GRCm39)	F276C	probably damaging	Het
Otog	T	A	7: 45,952,328 (GRCm39)	C2591S	probably damaging	Het
Pdgfrb	G	T	18: 61,205,828 (GRCm39)	V605F	probably damaging	Het
Pik3cb	T	A	9: 98,983,297 (GRCm39)	K104*	probably null	Het
Plb1	T	A	5: 32,471,433 (GRCm39)	I580N	probably damaging	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Plekha7	T	A	7: 115,775,002 (GRCm39)	Y213F	probably damaging	Het
Plin5	T	C	17: 56,423,836 (GRCm39)	D33G	probably benign	Het
Pnpla2	C	A	7: 141,039,132 (GRCm39)	Q371K	probably damaging	Het
Ppm1n	A	G	7: 19,012,110 (GRCm39)	Y348H	probably damaging	Het
Ppp2r1b	T	A	9: 50,777,854 (GRCm39)	D266E	probably damaging	Het
Prss23	A	G	7: 89,159,119 (GRCm39)	S317P	probably damaging	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Pum1	G	T	4: 130,478,802 (GRCm39)	A571S	probably damaging	Het
Rexo1	G	T	10: 80,379,943 (GRCm39)	C13*	probably null	Het
Rhpn1	A	T	15: 75,576,243 (GRCm39)	M1L	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripk2	A	G	4: 16,132,775 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,530,920 (GRCm39)	Y937C	probably damaging	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Ryr2	A	G	13: 11,592,759 (GRCm39)	I4665T	possibly damaging	Het
Sbno1	C	A	5: 124,516,606 (GRCm39)	V1256F	probably benign	Het
Senp5	T	C	16: 31,787,692 (GRCm39)	I644V	probably damaging	Het
Serpinb9e	T	A	13: 33,436,961 (GRCm39)	F94I	probably damaging	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Sned1	T	A	1: 93,202,379 (GRCm39)	D674E	probably benign	Het
Sorl1	T	C	9: 41,895,788 (GRCm39)	H1789R	probably benign	Het
Sp2	T	C	11: 96,852,834 (GRCm39)	D30G	possibly damaging	Het
Stk33	T	A	7: 108,940,527 (GRCm39)	N61I	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Tbcd	A	G	11: 121,494,457 (GRCm39)	Q1006R	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,763 (GRCm39)	D623G	probably damaging	Het
Trib2	A	G	12: 15,843,830 (GRCm39)	F271L	probably damaging	Het
Ttn	A	G	2: 76,810,477 (GRCm39)	V17A	probably benign	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yeats2	T	A	16: 19,972,916 (GRCm39)	D23E	probably damaging	Het
Zan	T	A	5: 137,434,662 (GRCm39)	I2214F	unknown	Het
Zbtb40	T	C	4: 136,718,946 (GRCm39)	D917G	probably damaging	Het
Zcchc2	C	A	1: 105,949,453 (GRCm39)		probably null	Het
Zdhhc23	G	T	16: 43,794,282 (GRCm39)	Q131K	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp532	A	G	18: 65,757,998 (GRCm39)	T644A	possibly damaging	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
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
R7491:Col2a1	UTSW	15	97,874,040 (GRCm39)	missense	not run
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

PCR Primer
(F):5'- ACCAAGGTTATTCGGGGTG -3'
(R):5'- CAGGCATGCTGATGAAAAGC -3'

Sequencing Primer
(F):5'- GGACAGGCCCCAAATCTTC -3'
(R):5'- GATGAAAAGCATCCTCATCCCCTG -3'

Posted On

2014-10-01