Mutagenetix > Incidental Mutation

Incidental Mutation 'R2913:Col1a2'

254749

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

040500-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4505618-4541543 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 4519923 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: P302S

SMART Domains

Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: P302S

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

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

0.1132

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (58/58)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,934,887 (GRCm39)	Q357R	probably damaging	Het
Adap1	C	T	5: 139,260,576 (GRCm39)		probably null	Het
Adgrf3	A	G	5: 30,401,992 (GRCm39)	S679P	probably damaging	Het
Aldh3b1	T	C	19: 3,971,275 (GRCm39)		probably benign	Het
Arih2	A	G	9: 108,521,275 (GRCm39)	S68P	probably damaging	Het
Cdcp3	T	C	7: 130,783,753 (GRCm39)	S49P	possibly damaging	Het
Cplane1	T	C	15: 8,300,169 (GRCm39)	S3159P	unknown	Het
Crocc	C	T	4: 140,747,661 (GRCm39)	R1496H	probably damaging	Het
Cryl1	T	C	14: 57,513,375 (GRCm39)	E282G	probably benign	Het
Cyp11b1	T	C	15: 74,708,270 (GRCm39)	T402A	probably damaging	Het
Etfa	C	A	9: 55,389,613 (GRCm39)	A254S	probably damaging	Het
Fcgbpl1	A	T	7: 27,863,732 (GRCm39)	L2501F	probably damaging	Het
Fdxacb1	C	T	9: 50,679,699 (GRCm39)	A39V	probably benign	Het
Fras1	G	A	5: 96,881,774 (GRCm39)	R2502K	probably benign	Het
Gpr157	G	A	4: 150,183,222 (GRCm39)	V131I	probably benign	Het
Hbb-bh1	C	T	7: 103,492,254 (GRCm39)	E22K	possibly damaging	Het
Hmcn2	A	G	2: 31,350,222 (GRCm39)	T5040A	possibly damaging	Het
Hprt1	T	C	X: 52,109,016 (GRCm39)	Y174H	probably damaging	Het
Igsf10	T	A	3: 59,239,157 (GRCm39)	L341F	possibly damaging	Het
Ints1	A	G	5: 139,743,668 (GRCm39)	S1592P	possibly damaging	Het
Itgam	T	C	7: 127,711,578 (GRCm39)	I641T	probably damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Mapk3	T	A	7: 126,359,978 (GRCm39)	C19*	probably null	Het
Mapk4	C	T	18: 74,068,236 (GRCm39)	A232T	probably benign	Het
Med26	T	G	8: 73,249,956 (GRCm39)	K381T	possibly damaging	Het
Mki67	T	C	7: 135,302,415 (GRCm39)	E873G	possibly damaging	Het
Mrgpra9	T	C	7: 46,884,828 (GRCm39)	I280V	probably benign	Het
Mroh9	T	C	1: 162,871,572 (GRCm39)	Y637C	probably damaging	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Or4c11	A	T	2: 88,695,458 (GRCm39)	N170Y	probably benign	Het
Or5j3	A	G	2: 86,128,733 (GRCm39)	D191G	probably damaging	Het
Pam	A	C	1: 97,850,854 (GRCm39)	L168R	probably damaging	Het
Pikfyve	G	A	1: 65,292,676 (GRCm39)	V1376M	probably damaging	Het
Pomt2	A	T	12: 87,175,743 (GRCm39)	N400K	probably damaging	Het
Pramel13	T	C	4: 144,119,304 (GRCm39)	E421G	probably damaging	Het
Rbm45	C	T	2: 76,205,798 (GRCm39)	P217S	probably benign	Het
Rc3h2	A	G	2: 37,268,971 (GRCm39)	S832P	possibly damaging	Het
Ric3	A	G	7: 108,653,660 (GRCm39)	F144L	possibly damaging	Het
Rrh	G	T	3: 129,609,258 (GRCm39)	A83E	probably damaging	Het
Rspo2	T	A	15: 42,941,510 (GRCm39)	T138S	probably benign	Het
Skint5	A	G	4: 113,381,289 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Spata31d1d	T	C	13: 59,874,769 (GRCm39)	E922G	possibly damaging	Het
Spc25	T	C	2: 69,030,331 (GRCm39)	H104R	probably benign	Het
Sptssa	A	T	12: 54,703,267 (GRCm39)	M1K	probably null	Het
Srrm2	G	T	17: 24,034,658 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Tmem181c-ps	A	G	17: 6,888,608 (GRCm39)		noncoding transcript	Het
Tmprss15	T	C	16: 78,759,078 (GRCm39)	N880S	probably benign	Het
Trio	T	A	15: 27,854,998 (GRCm39)	Q728L	probably damaging	Het
Txk	T	C	5: 72,881,794 (GRCm39)	N154S	probably damaging	Het
Vwf	T	A	6: 125,662,809 (GRCm39)	V2731E	probably benign	Het
Yes1	T	C	5: 32,797,926 (GRCm39)	S82P	probably benign	Het
Zgrf1	T	C	3: 127,392,356 (GRCm39)	V1292A	possibly 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
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
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'- CCCAGTCTTTGCGATGATAAACC -3'
(R):5'- TCAGATGTACTTACAGTAGCACCC -3'

Sequencing Primer
(F):5'- GGTTGCTGTTCTGACAAAATTCC -3'
(R):5'- ACTTACAGTAGCACCCTTGGCG -3'

Posted On

2014-12-29