Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Col1a2'

274590

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

040763-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4505618-4541543 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 4518822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031668] [ENSMUST00000141483]

AlphaFold

Q01149

Predicted Effect

unknown
Transcript: ENSMUST00000031668
AA Change: R230H

SMART Domains

Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: R230H

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: ENSMUST00000132029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138511

Predicted Effect

probably benign
Transcript: ENSMUST00000141483

SMART Domains

Protein: ENSMUSP00000125275
Gene: ENSMUSG00000029661

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Collagen	30	89	3.2e-10	PFAM
Pfam:Collagen	87	145	8.5e-10	PFAM
Pfam:Collagen	121	177	3.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148864

Meta Mutation Damage Score

0.1176

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Akap9	A	G	5: 4,004,410 (GRCm39)	N108S	probably benign	Het
Ankmy1	A	G	1: 92,811,480 (GRCm39)	I636T	possibly damaging	Het
Bbs9	T	A	9: 22,798,926 (GRCm39)	D851E	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Ccdc175	T	C	12: 72,227,598 (GRCm39)	T62A	possibly damaging	Het
Cfhr4	T	A	1: 139,680,773 (GRCm39)	K248N	probably damaging	Het
Clcnka	T	C	4: 141,114,601 (GRCm39)	E615G	probably null	Het
Cpxm2	C	T	7: 131,681,820 (GRCm39)	M236I	probably benign	Het
Dhrs2	A	T	14: 55,472,205 (GRCm39)	N32I	probably benign	Het
Fam131a	G	A	16: 20,514,608 (GRCm39)	V70M	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,317,891 (GRCm39)	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,735,183 (GRCm39)	T315A	probably benign	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965 (GRCm39)	Q18*	probably null	Het
Hemk1	T	A	9: 107,214,229 (GRCm39)	I68F	probably damaging	Het
Herc3	C	A	6: 58,893,835 (GRCm39)	H970Q	probably damaging	Het
Ighv5-17	C	A	12: 113,822,918 (GRCm39)	A68S	probably benign	Het
Ip6k3	T	C	17: 27,363,974 (GRCm39)	H358R	probably damaging	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Kmt2a	C	T	9: 44,731,653 (GRCm39)		probably benign	Het
Krt16	G	T	11: 100,139,566 (GRCm39)	R51S	unknown	Het
Lamtor1	G	A	7: 101,560,552 (GRCm39)	V156I	probably damaging	Het
Lingo4	A	G	3: 94,309,407 (GRCm39)	D115G	probably damaging	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Maco1	C	T	4: 134,557,891 (GRCm39)	M207I	probably benign	Het
Man1c1	A	T	4: 134,430,662 (GRCm39)	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,224,221 (GRCm39)	N145S	probably benign	Het
Morf4l1	A	G	9: 89,977,196 (GRCm39)	S203P	probably benign	Het
Muc5ac	T	C	7: 141,367,471 (GRCm39)	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,289,142 (GRCm39)	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,532,505 (GRCm39)	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,104,271 (GRCm39)	E44G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Or4ac1-ps1	A	T	2: 88,370,700 (GRCm39)		noncoding transcript	Het
Or5d18	A	G	2: 87,864,911 (GRCm39)	S191P	possibly damaging	Het
Otof	T	A	5: 30,543,843 (GRCm39)		probably null	Het
Pcdha2	G	A	18: 37,072,582 (GRCm39)	R71H	probably benign	Het
Pcdha2	G	T	18: 37,074,744 (GRCm39)	E792*	probably null	Het
Pcnx1	A	G	12: 81,996,911 (GRCm39)	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,096,640 (GRCm39)	Y122H	probably damaging	Het
Psg16	A	G	7: 16,824,609 (GRCm39)	E131G	probably benign	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Rab6a	A	G	7: 100,257,431 (GRCm39)	M1V	probably null	Het
Ripk3	T	C	14: 56,023,725 (GRCm39)	R29G	probably benign	Het
Robo4	A	T	9: 37,315,734 (GRCm39)	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,071,614 (GRCm39)	V423A	possibly damaging	Het
Rxylt1	A	T	10: 121,917,514 (GRCm39)	V333E	possibly damaging	Het
Scgb2b18	T	G	7: 32,872,563 (GRCm39)	M81L	probably benign	Het
Slc24a2	A	T	4: 87,146,021 (GRCm39)	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,248,019 (GRCm39)	E325G	probably benign	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Them6	A	G	15: 74,593,367 (GRCm39)	D75G	probably damaging	Het
Tnrc18	G	A	5: 142,773,029 (GRCm39)	A417V	unknown	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zbtb22	C	T	17: 34,135,920 (GRCm39)		probably benign	Het
Zfp235	A	G	7: 23,840,046 (GRCm39)	D225G	probably benign	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
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
R5872:Col1a2	UTSW	6	4,531,926 (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'- CCTGAATGTGCATGCTTAGC -3'
(R):5'- GTGTCAGGACTTACAGCAGG -3'

Sequencing Primer
(F):5'- GAGACTTTGATAATTGCTATCTCCC -3'
(R):5'- ACTTACAGCAGGGCCGAC -3'

Posted On

2015-04-02