Mutagenetix > Incidental Mutation

Incidental Mutation 'R9298:Col1a2'

704724

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

068963-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9298 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4505618-4541543 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 4515260 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

probably null
Transcript: ENSMUST00000031668

SMART Domains

Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661

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

probably null
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 73,198,923 (GRCm39)	A110D	probably benign	Het
4930407I10Rik	A	G	15: 81,947,615 (GRCm39)	E504G	probably benign	Het
Apbb2	T	C	5: 66,609,018 (GRCm39)	K210E	probably benign	Het
Arhgef37	G	T	18: 61,651,072 (GRCm39)	A151D	probably damaging	Het
Btaf1	A	G	19: 36,964,114 (GRCm39)	Y895C	probably benign	Het
Catsperb	A	G	12: 101,560,600 (GRCm39)	I864V	possibly damaging	Het
Cdhr17	T	A	5: 16,996,855 (GRCm39)	C10*	probably null	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Col18a1	G	A	10: 76,893,204 (GRCm39)	T1057M	probably damaging	Het
Col6a4	A	G	9: 105,945,534 (GRCm39)	I860T	probably damaging	Het
Csmd3	A	C	15: 47,617,187 (GRCm39)	H1000Q		Het
Cyp4a29	T	A	4: 115,108,395 (GRCm39)	M373K	probably damaging	Het
Dnhd1	A	G	7: 105,333,173 (GRCm39)	E215G	probably damaging	Het
Dop1b	A	G	16: 93,597,087 (GRCm39)	E1972G	probably damaging	Het
Dusp19	T	C	2: 80,447,729 (GRCm39)	M1T	probably null	Het
Eif4b	A	G	15: 101,990,449 (GRCm39)	T18A	possibly damaging	Het
Exosc6	G	A	8: 111,783,513 (GRCm39)	A171T	probably damaging	Het
Fau	G	A	19: 6,108,297 (GRCm39)	R6H	probably benign	Het
Flrt3	T	C	2: 140,501,879 (GRCm39)	D583G	probably damaging	Het
Fpgt	A	T	3: 154,792,695 (GRCm39)	L444*	probably null	Het
Gm10226	A	G	17: 21,910,768 (GRCm39)	E1G	probably null	Het
Gm14443	A	T	2: 175,011,869 (GRCm39)	C192*	probably null	Het
Gm4353	T	A	7: 115,682,843 (GRCm39)	N246I	probably benign	Het
Igfn1	A	G	1: 135,926,327 (GRCm39)	L41P	probably benign	Het
Iigp1	T	G	18: 60,523,063 (GRCm39)	D60E	probably benign	Het
Kcnt2	T	A	1: 140,353,035 (GRCm39)	V248D	probably damaging	Het
Kctd14	A	G	7: 97,107,243 (GRCm39)	K166R	probably benign	Het
Kdm4d	G	A	9: 14,375,336 (GRCm39)	T174M	probably damaging	Het
Kdm5b	T	C	1: 134,528,493 (GRCm39)		probably null	Het
Maz	CGCGGCCTCGGCGGCTGGTGCGG	CGCGG	7: 126,625,075 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,202,082 (GRCm39)	Q115R	probably benign	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Or10a5	A	T	7: 106,635,640 (GRCm39)	I93F	probably damaging	Het
Or2h1b	A	T	17: 37,462,572 (GRCm39)	V97D	probably damaging	Het
Or5b95	T	A	19: 12,658,190 (GRCm39)	C239*	probably null	Het
Pigc	C	T	1: 161,798,032 (GRCm39)	R5C	probably benign	Het
Plekhm2	C	A	4: 141,356,829 (GRCm39)	M771I	probably benign	Het
Runx1	T	A	16: 92,441,147 (GRCm39)	T221S	possibly damaging	Het
S100pbp	A	G	4: 129,044,847 (GRCm39)	Y363H	probably damaging	Het
Sema5a	A	G	15: 32,619,040 (GRCm39)	T523A	probably benign	Het
Slc38a8	A	G	8: 120,212,851 (GRCm39)	F270S	possibly damaging	Het
Slc4a1ap	T	C	5: 31,693,538 (GRCm39)	S491P	probably damaging	Het
Slc66a2	T	C	18: 80,300,300 (GRCm39)	L57P	probably damaging	Het
Slc7a6	T	C	8: 106,922,534 (GRCm39)	V440A	probably damaging	Het
Sobp	A	T	10: 42,898,902 (GRCm39)	C228S	probably damaging	Het
Svop	G	A	5: 114,168,231 (GRCm39)	T456M	probably benign	Het
Synrg	A	G	11: 83,900,278 (GRCm39)	D750G	probably damaging	Het
Syt14	C	A	1: 192,612,944 (GRCm39)	E336*	probably null	Het
Tcp11l1	C	T	2: 104,528,897 (GRCm39)	V134I	possibly damaging	Het
Tex51	T	C	18: 32,594,029 (GRCm39)	R110G	possibly damaging	Het
Tle3	T	A	9: 61,319,562 (GRCm39)	H443Q	possibly damaging	Het
Unc13a	C	T	8: 72,108,335 (GRCm39)	R506Q	possibly damaging	Het
Vmn1r121	A	C	7: 20,832,344 (GRCm39)	V32G	probably damaging	Het
Wiz	A	G	17: 32,580,714 (GRCm39)	F246L	probably benign	Het
Zfp672	A	T	11: 58,220,590 (GRCm39)	M3K	unknown	Het
Zfp709	A	T	8: 72,644,648 (GRCm39)	E692D	possibly damaging	Het
Zglp1	A	T	9: 20,977,482 (GRCm39)	L111Q	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
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
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
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'- GGAAATTTGGTTCATCTGTCCATCC -3'
(R):5'- AAACCTTGAGGGCCCTAAGG -3'

Sequencing Primer
(F):5'- TCTGTCCATCCAAAAACTTCAGGGG -3'
(R):5'- CCTTGAGGGCCCTAAGGTAGAG -3'

Posted On

2022-03-25