Mutagenetix > Incidental Mutation

Incidental Mutation 'R5872:Col1a2'

455241

Institutional Source

Beutler Lab

Gene Symbol

Col1a2

Ensembl Gene

ENSMUSG00000029661

Gene Name

collagen, type I, alpha 2

Synonyms

Col1a-2, Cola-2, Cola2

MMRRC Submission

044079-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4505618-4541543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4531926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 782 (S782N)

Ref Sequence

ENSEMBL: ENSMUSP00000031668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031668]

AlphaFold

Q01149

Predicted Effect

unknown
Transcript: ENSMUST00000031668
AA Change: S782N

SMART Domains

Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: S782N

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Collagen	30	91	1e-8	PFAM
Pfam:Collagen	88	155	8.2e-10	PFAM
internal_repeat_3	172	223	7.52e-12	PROSPERO
low complexity region	225	271	N/A	INTRINSIC
low complexity region	274	313	N/A	INTRINSIC
low complexity region	316	352	N/A	INTRINSIC
internal_repeat_2	354	386	2.06e-15	PROSPERO
internal_repeat_1	355	469	5.71e-17	PROSPERO
internal_repeat_4	361	472	2.1e-11	PROSPERO
Pfam:Collagen	475	535	7.7e-11	PFAM
Pfam:Collagen	521	588	8.2e-10	PFAM
low complexity region	598	625	N/A	INTRINSIC
low complexity region	628	655	N/A	INTRINSIC
low complexity region	679	722	N/A	INTRINSIC
low complexity region	724	757	N/A	INTRINSIC
low complexity region	759	784	N/A	INTRINSIC
low complexity region	792	820	N/A	INTRINSIC
internal_repeat_5	823	850	5.93e-7	PROSPERO
low complexity region	853	883	N/A	INTRINSIC
Pfam:Collagen	895	969	1e-8	PFAM
low complexity region	987	1007	N/A	INTRINSIC
internal_repeat_5	1009	1042	5.93e-7	PROSPERO
Pfam:Collagen	1051	1120	5.8e-9	PFAM
COLFI	1138	1372	2.1e-150	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148864

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155687

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the alpha-2 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-1 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice harboring certain mutations in the encoded gene exhibit symptoms of moderate to severe forms of osteogenesis imperfecta. [provided by RefSeq, Dec 2015]
PHENOTYPE: The tails of mice heterozygous for an ENU-induced mutation at this locus are flexible or rubbery. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,309 (GRCm39)	S1219P	possibly damaging	Het
A2ml1	A	G	6: 128,538,489 (GRCm39)	Y644H	probably damaging	Het
Abca9	T	G	11: 110,007,902 (GRCm39)	R1232S	possibly damaging	Het
Acsf2	C	T	11: 94,463,975 (GRCm39)	V70M	probably benign	Het
Ampd1	A	G	3: 102,986,446 (GRCm39)	I42V	probably benign	Het
Arhgap10	A	G	8: 78,071,267 (GRCm39)		probably null	Het
Atp1a4	A	T	1: 172,071,975 (GRCm39)	L432Q	probably damaging	Het
Bbs12	T	A	3: 37,374,598 (GRCm39)	C349S	possibly damaging	Het
Bnc2	A	G	4: 84,211,007 (GRCm39)	V479A	possibly damaging	Het
Cald1	A	T	6: 34,748,043 (GRCm39)	K761*	probably null	Het
Cd177	C	T	7: 24,451,688 (GRCm39)	G443R	probably null	Het
Cdc42bpb	T	C	12: 111,292,410 (GRCm39)	D375G	probably damaging	Het
Chsy3	T	C	18: 59,309,268 (GRCm39)	Y174H	probably damaging	Het
Cmya5	T	C	13: 93,233,943 (GRCm39)	M382V	probably benign	Het
Crtac1	C	T	19: 42,297,629 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,445,923 (GRCm39)	D3683V	probably damaging	Het
Ctrc	A	G	4: 141,572,354 (GRCm39)	L62P	probably damaging	Het
Cyp3a57	A	T	5: 145,307,867 (GRCm39)	K208*	probably null	Het
Dnaaf2	A	T	12: 69,244,122 (GRCm39)	L313Q	probably damaging	Het
Dtl	A	G	1: 191,278,680 (GRCm39)	L394P	probably benign	Het
Ehhadh	T	C	16: 21,585,305 (GRCm39)	E192G	probably benign	Het
Fads2	T	C	19: 10,059,997 (GRCm39)	I226V	probably benign	Het
Fat2	T	C	11: 55,161,208 (GRCm39)	E3174G	probably damaging	Het
Galnt14	C	T	17: 73,881,826 (GRCm39)	R91Q	probably damaging	Het
Hdhd5	G	T	6: 120,487,252 (GRCm39)	D368E	probably benign	Het
Hk3	T	A	13: 55,158,617 (GRCm39)	I528F	probably damaging	Het
Il10ra	A	C	9: 45,166,951 (GRCm39)	S533R	possibly damaging	Het
Itpr3	G	T	17: 27,305,950 (GRCm39)	K169N	probably benign	Het
Lrrc17	A	G	5: 21,780,264 (GRCm39)	T413A	probably benign	Het
Mcm2	C	T	6: 88,861,053 (GRCm39)	D882N	probably benign	Het
Met	T	C	6: 17,562,197 (GRCm39)	V1186A	probably damaging	Het
Msh5	C	T	17: 35,248,628 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,600,648 (GRCm39)	I1326M	probably damaging	Het
Nek10	A	G	14: 14,850,896 (GRCm38)	I314V	probably benign	Het
Or10g1	A	C	14: 52,648,225 (GRCm39)	F35V	probably damaging	Het
Or8b53	T	A	9: 38,667,412 (GRCm39)	Y143N	probably benign	Het
Pim1	A	G	17: 29,712,720 (GRCm39)	E211G	probably damaging	Het
Plaat1	T	A	16: 29,039,189 (GRCm39)	Y90N	probably benign	Het
Ppp1r12b	A	T	1: 134,704,144 (GRCm39)	D903E	probably benign	Het
Ptpn14	T	C	1: 189,583,229 (GRCm39)	L692P	probably benign	Het
Ptprt	A	G	2: 161,977,138 (GRCm39)	C387R	probably damaging	Het
Qrfprl	A	G	6: 65,418,369 (GRCm39)		probably benign	Het
Scarb1	A	G	5: 125,381,341 (GRCm39)	Y68H	possibly damaging	Het
Shisa6	T	A	11: 66,108,800 (GRCm39)	D359V	probably damaging	Het
Shprh	T	C	10: 11,063,817 (GRCm39)	S1297P	probably damaging	Het
Sik1	T	C	17: 32,069,125 (GRCm39)	D250G	probably damaging	Het
Slamf7	A	G	1: 171,466,635 (GRCm39)	L190S	probably damaging	Het
Slc22a3	G	A	17: 12,652,355 (GRCm39)	P423L	probably damaging	Het
Slc35e2	A	T	4: 155,697,137 (GRCm39)	E217V	probably damaging	Het
Spocd1	A	T	4: 129,850,254 (GRCm39)	N760I	probably damaging	Het
Tas2r136	G	T	6: 132,754,294 (GRCm39)	P278T	possibly damaging	Het
Tchhl1	A	T	3: 93,377,836 (GRCm39)	Q180L	probably benign	Het
Tmem151b	T	A	17: 45,858,010 (GRCm39)	T79S	probably benign	Het
Tomm70a	T	A	16: 56,965,105 (GRCm39)	C430S	probably benign	Het
Trbv16	T	A	6: 41,128,936 (GRCm39)	L40Q	probably damaging	Het
Trmt1l	T	G	1: 151,316,594 (GRCm39)	I32S	probably damaging	Het
Ubr4	A	G	4: 139,152,641 (GRCm39)	T2011A	probably damaging	Het
Urb1	C	T	16: 90,569,652 (GRCm39)	W1358*	probably null	Het
Usp31	T	G	7: 121,248,698 (GRCm39)	H915P	probably benign	Het
Vmn2r10	A	T	5: 109,151,377 (GRCm39)	M79K	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,222 (GRCm39)	I117T	probably benign	Het
Vps13b	A	G	15: 35,869,497 (GRCm39)	H2667R	possibly damaging	Het
Vwa5b1	G	A	4: 138,305,962 (GRCm39)	T912M	possibly damaging	Het
Zfp709	G	A	8: 72,643,363 (GRCm39)	C264Y	probably benign	Het
Zkscan5	A	G	5: 145,156,898 (GRCm39)	I467V	probably benign	Het
Zxdc	A	T	6: 90,347,281 (GRCm39)	D214V	probably damaging	Het

Other mutations in Col1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Col1a2	APN	6	4,531,095 (GRCm39)	splice site	probably benign
IGL01126:Col1a2	APN	6	4,535,846 (GRCm39)	missense	unknown
IGL01129:Col1a2	APN	6	4,535,846 (GRCm39)	missense	unknown
IGL01286:Col1a2	APN	6	4,533,891 (GRCm39)	missense	unknown
IGL01687:Col1a2	APN	6	4,520,258 (GRCm39)	nonsense	probably null
IGL01866:Col1a2	APN	6	4,524,132 (GRCm39)	missense	probably damaging	1.00
IGL02010:Col1a2	APN	6	4,512,416 (GRCm39)	critical splice donor site	probably null
IGL02100:Col1a2	APN	6	4,524,177 (GRCm39)	splice site	probably benign
IGL02140:Col1a2	APN	6	4,515,639 (GRCm39)	missense	unknown
IGL02474:Col1a2	APN	6	4,516,398 (GRCm39)	missense	unknown
IGL02510:Col1a2	APN	6	4,516,398 (GRCm39)	missense	unknown
IGL02525:Col1a2	APN	6	4,531,355 (GRCm39)	splice site	probably benign
IGL02839:Col1a2	APN	6	4,538,748 (GRCm39)	missense	unknown
IGL03134:Col1a2	APN	6	4,521,387 (GRCm39)	unclassified	probably benign
IGL03385:Col1a2	APN	6	4,539,612 (GRCm39)	missense	unknown
hollow	UTSW	6	4,538,680 (GRCm39)	missense	unknown
marrow	UTSW	6	4,531,316 (GRCm39)	missense	unknown
myelo	UTSW	6	4,515,682 (GRCm39)	missense	unknown
P4717OSA:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
PIT4453001:Col1a2	UTSW	6	4,527,079 (GRCm39)	missense	possibly damaging	0.94
R0021:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0022:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0025:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0027:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0028:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0031:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0038:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0064:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0102:Col1a2	UTSW	6	4,520,775 (GRCm39)	missense	possibly damaging	0.92
R0147:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0323:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0326:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0326:Col1a2	UTSW	6	4,537,838 (GRCm39)	missense	unknown
R0335:Col1a2	UTSW	6	4,531,956 (GRCm39)	splice site	probably benign
R0359:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0363:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0612:Col1a2	UTSW	6	4,516,003 (GRCm39)	missense	unknown
R0729:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0746:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0760:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0761:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0801:Col1a2	UTSW	6	4,531,316 (GRCm39)	missense	unknown
R0845:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0846:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0969:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R0970:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1105:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1106:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1107:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1134:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1135:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1152:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1333:Col1a2	UTSW	6	4,515,684 (GRCm39)	critical splice donor site	probably null
R1341:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1470:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1470:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1477:Col1a2	UTSW	6	4,539,673 (GRCm39)	missense	unknown
R1566:Col1a2	UTSW	6	4,523,613 (GRCm39)	missense	probably damaging	1.00
R1691:Col1a2	UTSW	6	4,536,038 (GRCm39)	missense	unknown
R1713:Col1a2	UTSW	6	4,538,691 (GRCm39)	missense	unknown
R1754:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R1755:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2050:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2178:Col1a2	UTSW	6	4,531,143 (GRCm39)	missense	unknown
R2194:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2195:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2235:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2261:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2262:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2263:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2289:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2310:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2312:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2330:Col1a2	UTSW	6	4,528,300 (GRCm39)	splice site	probably benign
R2333:Col1a2	UTSW	6	4,532,747 (GRCm39)	missense	unknown
R2401:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2403:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2448:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2513:Col1a2	UTSW	6	4,531,223 (GRCm39)	splice site	probably null
R2862:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2884:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2885:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R2913:Col1a2	UTSW	6	4,519,923 (GRCm39)	unclassified	probably benign
R2937:Col1a2	UTSW	6	4,520,788 (GRCm39)	missense	possibly damaging	0.92
R2937:Col1a2	UTSW	6	4,519,882 (GRCm39)	unclassified	probably benign
R2938:Col1a2	UTSW	6	4,520,788 (GRCm39)	missense	possibly damaging	0.92
R3608:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R3692:Col1a2	UTSW	6	4,510,710 (GRCm39)	missense	possibly damaging	0.84
R3805:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R3806:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R3826:Col1a2	UTSW	6	4,516,960 (GRCm39)	unclassified	probably benign
R3903:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R3904:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R3922:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R3926:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R4106:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R4107:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R4108:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R4109:Col1a2	UTSW	6	4,510,705 (GRCm39)	nonsense	probably null
R4509:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
R4667:Col1a2	UTSW	6	4,512,412 (GRCm39)	missense	unknown
R4909:Col1a2	UTSW	6	4,529,058 (GRCm39)	splice site	probably benign
R5418:Col1a2	UTSW	6	4,516,931 (GRCm39)	unclassified	probably benign
R5587:Col1a2	UTSW	6	4,540,531 (GRCm39)	missense	unknown
R5598:Col1a2	UTSW	6	4,516,916 (GRCm39)	unclassified	probably benign
R5673:Col1a2	UTSW	6	4,539,622 (GRCm39)	missense	unknown
R5678:Col1a2	UTSW	6	4,536,239 (GRCm39)	missense	unknown
R5763:Col1a2	UTSW	6	4,515,682 (GRCm39)	missense	unknown
R5786:Col1a2	UTSW	6	4,530,223 (GRCm39)	missense	unknown
R6084:Col1a2	UTSW	6	4,505,840 (GRCm39)	start codon destroyed	probably benign	0.01
R6134:Col1a2	UTSW	6	4,538,035 (GRCm39)	missense	unknown
R6221:Col1a2	UTSW	6	4,539,490 (GRCm39)	missense	unknown
R6481:Col1a2	UTSW	6	4,538,680 (GRCm39)	missense	unknown
R6500:Col1a2	UTSW	6	4,515,517 (GRCm39)	missense	unknown
R6890:Col1a2	UTSW	6	4,539,587 (GRCm39)	missense	unknown
R7022:Col1a2	UTSW	6	4,534,639 (GRCm39)	missense	unknown
R7033:Col1a2	UTSW	6	4,516,904 (GRCm39)	unclassified	probably benign
R7195:Col1a2	UTSW	6	4,510,753 (GRCm39)	missense	unknown
R7657:Col1a2	UTSW	6	4,527,152 (GRCm39)	missense	probably null	0.99
R7686:Col1a2	UTSW	6	4,518,964 (GRCm39)	missense	unknown
R7875:Col1a2	UTSW	6	4,518,500 (GRCm39)	missense	unknown
R8023:Col1a2	UTSW	6	4,533,847 (GRCm39)	missense	unknown
R8208:Col1a2	UTSW	6	4,515,260 (GRCm39)	splice site	probably null
R8277:Col1a2	UTSW	6	4,516,410 (GRCm39)	missense	probably null
R8438:Col1a2	UTSW	6	4,515,518 (GRCm39)	missense	unknown
R8438:Col1a2	UTSW	6	4,515,517 (GRCm39)	missense	unknown
R8993:Col1a2	UTSW	6	4,535,451 (GRCm39)	missense	unknown
R9109:Col1a2	UTSW	6	4,515,260 (GRCm39)	splice site	probably null
R9298:Col1a2	UTSW	6	4,515,260 (GRCm39)	splice site	probably null
R9315:Col1a2	UTSW	6	4,540,544 (GRCm39)	missense	unknown
R9490:Col1a2	UTSW	6	4,505,901 (GRCm39)	missense	unknown
V5622:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
V5622:Col1a2	UTSW	6	4,518,822 (GRCm39)	unclassified	probably benign
X0017:Col1a2	UTSW	6	4,515,675 (GRCm39)	missense	unknown
Z1176:Col1a2	UTSW	6	4,532,750 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGCTTCAGTAATCCATGGGG -3'
(R):5'- GCTCGGTACTGGTGAACTTC -3'

Sequencing Primer
(F):5'- CTTCAGTAATCCATGGGGTGTTAC -3'
(R):5'- GCTCGGTACTGGTGAACTTCATAAC -3'

Posted On

2017-02-10