Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01129:Col1a2'

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278192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col1a2

Ensembl Gene

ENSMUSG00000029661

Gene Name

collagen, type I, alpha 2

Synonyms

Cola2, Cola-2, Col1a-2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

4504814-4541544 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4535846 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 939 (D939N)

Ref Sequence

ENSEMBL: ENSMUSP00000031668 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000031668
AA Change: D939N

SMART Domains

Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: D939N

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: ENSMUST00000139201
AA Change: D201N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203346

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	A	T	X: 67,920,604	F216L	possibly damaging	Het
Bace2	T	G	16: 97,408,430	N181K	probably damaging	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ckap2	C	T	8: 22,169,758	G569D	probably damaging	Het
Col11a1	T	C	3: 114,185,873		probably benign	Het
Creb3l2	A	T	6: 37,353,634		probably benign	Het
Cuedc1	T	A	11: 88,183,254	S205T	possibly damaging	Het
Cux1	G	A	5: 136,304,718		probably benign	Het
Cyp3a59	A	G	5: 146,098,279	M256V	probably benign	Het
Gzf1	C	A	2: 148,690,996	P690Q	probably damaging	Het
Lrch3	T	A	16: 32,994,965	D575E	probably benign	Het
Lypd3	A	G	7: 24,640,593	M362V	probably benign	Het
Mppe1	C	A	18: 67,237,444	G61*	probably null	Het
Nr2c2	T	A	6: 92,158,416	D328E	probably benign	Het
Olfr6	T	C	7: 106,956,427	N170D	probably damaging	Het
Pfn4	T	A	12: 4,775,505	V114E	probably damaging	Het
Rab14	T	C	2: 35,183,386		probably benign	Het
Slc30a9	G	T	5: 67,342,143	G315C	probably damaging	Het
Spag16	A	T	1: 69,896,522	S303C	probably benign	Het
Spata16	C	T	3: 26,913,184		probably benign	Het
Srcap	T	C	7: 127,521,651	V161A	probably damaging	Het
Srd5a3	A	G	5: 76,149,746		probably benign	Het
Vmn1r18	A	T	6: 57,390,497	F24Y	probably benign	Het
Vmn1r78	A	T	7: 12,153,238	T259S	probably benign	Het
Zc3h13	G	A	14: 75,335,999	D1527N	probably damaging	Het

Other mutations in Col1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Col1a2	APN	6	4531095	splice site	probably benign
IGL01126:Col1a2	APN	6	4535846	missense	unknown
IGL01286:Col1a2	APN	6	4533891	missense	unknown
IGL01687:Col1a2	APN	6	4520258	nonsense	probably null
IGL01866:Col1a2	APN	6	4524132	missense	probably damaging	1.00
IGL02010:Col1a2	APN	6	4512416	critical splice donor site	probably null
IGL02100:Col1a2	APN	6	4524177	splice site	probably benign
IGL02140:Col1a2	APN	6	4515639	missense	unknown
IGL02474:Col1a2	APN	6	4516398	missense	unknown
IGL02510:Col1a2	APN	6	4516398	missense	unknown
IGL02525:Col1a2	APN	6	4531355	splice site	probably benign
IGL02839:Col1a2	APN	6	4538748	missense	unknown
IGL03134:Col1a2	APN	6	4521387	unclassified	probably benign
IGL03385:Col1a2	APN	6	4539612	missense	unknown
P4717OSA:Col1a2	UTSW	6	4518822	unclassified	probably benign
PIT4453001:Col1a2	UTSW	6	4527079	missense	possibly damaging	0.94
R0021:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0022:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0025:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0027:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0028:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0031:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0038:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0064:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0102:Col1a2	UTSW	6	4520775	missense	possibly damaging	0.92
R0147:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0323:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0326:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0326:Col1a2	UTSW	6	4537838	missense	unknown
R0335:Col1a2	UTSW	6	4531956	splice site	probably benign
R0359:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0363:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0612:Col1a2	UTSW	6	4516003	missense	unknown
R0729:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0746:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0760:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0761:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0801:Col1a2	UTSW	6	4531316	missense	unknown
R0845:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0846:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0969:Col1a2	UTSW	6	4518822	unclassified	probably benign
R0970:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1105:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1106:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1107:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1134:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1135:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1152:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1333:Col1a2	UTSW	6	4515684	critical splice donor site	probably null
R1341:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1470:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1470:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1477:Col1a2	UTSW	6	4539673	missense	unknown
R1566:Col1a2	UTSW	6	4523613	missense	probably damaging	1.00
R1691:Col1a2	UTSW	6	4536038	missense	unknown
R1713:Col1a2	UTSW	6	4538691	missense	unknown
R1754:Col1a2	UTSW	6	4518822	unclassified	probably benign
R1755:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2050:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2178:Col1a2	UTSW	6	4531143	missense	unknown
R2194:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2195:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2235:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2261:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2262:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2263:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2289:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2310:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2312:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2330:Col1a2	UTSW	6	4528300	splice site	probably benign
R2333:Col1a2	UTSW	6	4532747	missense	unknown
R2401:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2403:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2448:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2513:Col1a2	UTSW	6	4531223	splice site	probably null
R2862:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2884:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2885:Col1a2	UTSW	6	4518822	unclassified	probably benign
R2913:Col1a2	UTSW	6	4519923	unclassified	probably benign
R2937:Col1a2	UTSW	6	4519882	unclassified	probably benign
R2937:Col1a2	UTSW	6	4520788	missense	possibly damaging	0.92
R2938:Col1a2	UTSW	6	4520788	missense	possibly damaging	0.92
R3608:Col1a2	UTSW	6	4518822	unclassified	probably benign
R3692:Col1a2	UTSW	6	4510710	missense	possibly damaging	0.84
R3805:Col1a2	UTSW	6	4518822	unclassified	probably benign
R3806:Col1a2	UTSW	6	4518822	unclassified	probably benign
R3826:Col1a2	UTSW	6	4516960	unclassified	probably benign
R3903:Col1a2	UTSW	6	4518822	unclassified	probably benign
R3904:Col1a2	UTSW	6	4518822	unclassified	probably benign
R3922:Col1a2	UTSW	6	4518822	unclassified	probably benign
R3926:Col1a2	UTSW	6	4518822	unclassified	probably benign
R4106:Col1a2	UTSW	6	4518822	unclassified	probably benign
R4107:Col1a2	UTSW	6	4518822	unclassified	probably benign
R4108:Col1a2	UTSW	6	4518822	unclassified	probably benign
R4109:Col1a2	UTSW	6	4510705	nonsense	probably null
R4509:Col1a2	UTSW	6	4518822	unclassified	probably benign
R4667:Col1a2	UTSW	6	4512412	missense	unknown
R4909:Col1a2	UTSW	6	4529058	splice site	probably benign
R5418:Col1a2	UTSW	6	4516931	unclassified	probably benign
R5587:Col1a2	UTSW	6	4540531	missense	unknown
R5598:Col1a2	UTSW	6	4516916	unclassified	probably benign
R5673:Col1a2	UTSW	6	4539622	missense	unknown
R5678:Col1a2	UTSW	6	4536239	missense	unknown
R5763:Col1a2	UTSW	6	4515682	missense	unknown
R5786:Col1a2	UTSW	6	4530223	missense	unknown
R5872:Col1a2	UTSW	6	4531926	missense	unknown
R6084:Col1a2	UTSW	6	4505840	start codon destroyed	probably benign	0.01
R6134:Col1a2	UTSW	6	4538035	missense	unknown
R6221:Col1a2	UTSW	6	4539490	missense	unknown
R6481:Col1a2	UTSW	6	4538680	missense	unknown
R6500:Col1a2	UTSW	6	4515517	missense	unknown
R6890:Col1a2	UTSW	6	4539587	missense	unknown
R7022:Col1a2	UTSW	6	4534639	missense	unknown
R7033:Col1a2	UTSW	6	4516904	unclassified	probably benign
R7195:Col1a2	UTSW	6	4510753	missense	unknown
R7657:Col1a2	UTSW	6	4527152	missense	probably null	0.99
R7686:Col1a2	UTSW	6	4518964	missense	unknown
R7875:Col1a2	UTSW	6	4518500	missense	unknown
R8023:Col1a2	UTSW	6	4533847	missense	unknown
R8208:Col1a2	UTSW	6	4515260	splice site	probably null
R8277:Col1a2	UTSW	6	4516410	missense	probably null
R8438:Col1a2	UTSW	6	4515517	missense	unknown
R8438:Col1a2	UTSW	6	4515518	missense	unknown
V5622:Col1a2	UTSW	6	4518822	unclassified	probably benign
V5622:Col1a2	UTSW	6	4518822	unclassified	probably benign
X0017:Col1a2	UTSW	6	4515675	missense	unknown
Z1176:Col1a2	UTSW	6	4532750	missense	unknown

Posted On

2015-04-16