Mutagenetix > Incidental Mutation

Incidental Mutation 'R0326:Col1a2'

25819

Institutional Source

Beutler Lab

Gene Symbol

Col1a2

Ensembl Gene

ENSMUSG00000029661

Gene Name

collagen, type I, alpha 2

Synonyms

Cola2, Cola-2, Col1a-2

MMRRC Submission

038536-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4504814-4541544 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4537838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1116 (F1116L)

Ref Sequence

ENSEMBL: ENSMUSP00000031668 (fasta)

Gene Model

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

AlphaFold

Q01149

Predicted Effect

unknown
Transcript: ENSMUST00000031668
AA Change: F1116L

SMART Domains

Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: F1116L

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: ENSMUST00000155687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203346

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.8%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,742,898	P286S	possibly damaging	Het
Aagab	T	A	9: 63,619,162	S156T	probably damaging	Het
Abca14	T	G	7: 120,224,419	Y390D	probably damaging	Het
Abcc2	T	A	19: 43,825,947	I1122N	possibly damaging	Het
Adamts16	T	C	13: 70,779,611	E503G	possibly damaging	Het
Adamts9	A	T	6: 92,858,057	C697*	probably null	Het
Adgrv1	T	C	13: 81,474,993	D3837G	possibly damaging	Het
Aire	T	A	10: 78,042,599	R128S	probably damaging	Het
Alkbh2	A	C	5: 114,123,950	*240E	probably null	Het
Als2	T	C	1: 59,180,583	Y1191C	probably damaging	Het
Anapc5	A	T	5: 122,814,604	V186E	probably benign	Het
Apob	C	T	12: 7,990,307	A548V	probably damaging	Het
B3galt4	A	T	17: 33,950,748	V172E	probably damaging	Het
Bbs7	A	C	3: 36,592,376	C432G	possibly damaging	Het
Cacna2d3	T	A	14: 29,045,644	E758V	probably damaging	Het
Cactin	T	G	10: 81,322,662	L154R	probably benign	Het
Ccdc129	A	T	6: 55,898,243	M393L	possibly damaging	Het
Ccdc88a	A	C	11: 29,461,021	R502S	probably benign	Het
Ccnf	A	T	17: 24,231,810	I398N	possibly damaging	Het
Chd1	A	T	17: 15,768,566	D1527V	probably damaging	Het
Chd1	A	T	17: 15,768,568	M1528L	probably benign	Het
Chrac1	G	A	15: 73,092,826		probably null	Het
Cln3	T	G	7: 126,583,045	M1L	probably damaging	Het
Cnot6	T	C	11: 49,677,436	Y442C	probably damaging	Het
Col19a1	A	T	1: 24,285,051		probably null	Het
Cops4	T	G	5: 100,528,542	V53G	probably damaging	Het
Crnkl1	A	G	2: 145,919,955	S561P	probably benign	Het
Ctnnb1	C	A	9: 120,951,712	Q99K	probably benign	Het
Cxcr5	T	C	9: 44,513,281	S360G	probably benign	Het
Dab2	G	A	15: 6,418,316	V60M	probably damaging	Het
Ddx3y	A	T	Y: 1,263,321	Y648*	probably null	Het
Dennd2a	T	A	6: 39,497,110	D430V	probably damaging	Het
Dsp	G	T	13: 38,192,870	E1544*	probably null	Het
Efcab7	A	T	4: 99,831,394	M38L	possibly damaging	Het
Fto	A	G	8: 91,409,527	N141S	probably damaging	Het
Gabrp	A	G	11: 33,554,362	F318L	probably damaging	Het
Gm4737	T	A	16: 46,153,883	D377V	probably benign	Het
Gmeb1	A	C	4: 132,242,352	C103W	probably damaging	Het
Heatr9	T	C	11: 83,514,539	D365G	probably damaging	Het
Hif3a	G	A	7: 17,044,400	R436W	probably benign	Het
Hint2	A	G	4: 43,654,378	V145A	probably damaging	Het
Hmcn2	T	A	2: 31,423,225	L3482*	probably null	Het
Hsd3b1	A	T	3: 98,853,274	Y134N	probably damaging	Het
Impg2	T	A	16: 56,260,485	V775E	probably damaging	Het
Ipo5	A	G	14: 120,922,223	I154M	probably benign	Het
Itgad	T	A	7: 128,198,378	F893Y	probably benign	Het
Kdm4a	T	C	4: 118,161,706	R438G	probably benign	Het
Klk11	T	A	7: 43,776,519	M1K	probably null	Het
Lama5	A	T	2: 180,182,426	V2602D	possibly damaging	Het
Lrch3	T	C	16: 32,979,500	S35P	probably damaging	Het
Mfn2	A	G	4: 147,883,288	L441P	probably damaging	Het
Mgat4c	A	T	10: 102,388,704	I260F	probably damaging	Het
Mon1b	T	A	8: 113,637,743	S51T	probably benign	Het
Myh11	T	C	16: 14,218,880	D993G	probably benign	Het
Myo1a	A	G	10: 127,716,297	N762D	probably benign	Het
Nacc2	A	T	2: 26,060,333	Y464N	probably damaging	Het
Nckap1	A	G	2: 80,553,370	I150T	probably benign	Het
Ndufv2	G	T	17: 66,080,821	P119T	probably damaging	Het
Noc4l	G	A	5: 110,652,375	R95*	probably null	Het
Ntng1	A	T	3: 110,135,503	Y2*	probably null	Het
Olfr1333	A	T	4: 118,829,825	V205D	possibly damaging	Het
Olfr1423	C	T	19: 12,036,161	V194I	probably benign	Het
Olfr1505	C	T	19: 13,919,509	T163I	probably benign	Het
Olfr804	A	G	10: 129,705,769	E297G	possibly damaging	Het
Oog4	T	C	4: 143,439,203	N53D	probably benign	Het
Phkg2	T	G	7: 127,573,903	L11R	probably damaging	Het
Pogz	A	G	3: 94,870,113	D368G	probably damaging	Het
Prex2	T	A	1: 11,285,065	L1530Q	probably damaging	Het
Prmt1	C	T	7: 44,979,454	E144K	probably damaging	Het
Prss8	T	A	7: 127,927,176	I121F	probably benign	Het
Psmd13	T	C	7: 140,897,711	L314P	probably damaging	Het
Ptch2	G	A	4: 117,108,884	G467D	probably damaging	Het
Rbm20	C	A	19: 53,864,165	P1192Q	probably damaging	Het
Rpl19	T	A	11: 98,028,374	D45E	probably benign	Het
Rsph10b	C	T	5: 143,967,128	A219V	probably damaging	Het
Rtraf	C	T	14: 19,814,532		probably null	Het
Scaf1	T	A	7: 45,008,751	T235S	probably damaging	Het
Shank1	T	A	7: 44,319,170	C296S	unknown	Het
Slc39a7	A	T	17: 34,028,950	V426D	probably damaging	Het
Slc41a2	A	T	10: 83,283,746	V384D	probably damaging	Het
Slco1c1	T	C	6: 141,559,773	L475P	probably benign	Het
Slco6d1	A	C	1: 98,490,634	K515T	probably benign	Het
Sos2	T	C	12: 69,635,685	E253G	probably damaging	Het
Sp6	G	T	11: 97,021,535	D25Y	possibly damaging	Het
Syt11	A	C	3: 88,762,548	D12E	possibly damaging	Het
Taf2	A	G	15: 55,047,460	L606P	probably damaging	Het
Tbc1d5	A	G	17: 50,966,736	Y116H	probably damaging	Het
Tnfrsf8	A	G	4: 145,288,459	I243T	possibly damaging	Het
Tnxb	A	G	17: 34,698,179	S2183G	probably benign	Het
Trim66	T	C	7: 109,460,172	Y853C	probably benign	Het
Ttn	T	A	2: 76,737,495	T27685S	probably damaging	Het
Ttn	T	C	2: 76,743,122	E25809G	probably damaging	Het
Uvssa	G	A	5: 33,408,847	G445S	probably benign	Het
Zfp326	T	C	5: 105,910,275	S427P	probably damaging	Het
Zfp592	A	G	7: 81,024,889	T534A	possibly damaging	Het
Zfp672	A	G	11: 58,316,347	S383P	possibly damaging	Het
Zfp799	A	G	17: 32,820,726	S188P	possibly damaging	Het
Zyg11b	A	C	4: 108,272,253	V54G	possibly 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
IGL01129: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
hollow	UTSW	6	4538680	missense	unknown
marrow	UTSW	6	4531316	missense	unknown
myelo	UTSW	6	4515682	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
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
R8993:Col1a2	UTSW	6	4535451	missense	unknown
R9109:Col1a2	UTSW	6	4515260	splice site	probably null
R9298:Col1a2	UTSW	6	4515260	splice site	probably null
R9315:Col1a2	UTSW	6	4540544	missense	unknown
R9490:Col1a2	UTSW	6	4505901	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

Predicted Primers

PCR Primer
(F):5'- GCCTCCCTGACCAAAGAAATGCTTC -3'
(R):5'- CTGAGTCTTAAGTCCCGGCACG -3'

Sequencing Primer
(F):5'- CAAACCACTGCTTTGAGACTGTG -3'
(R):5'- GTGCGAGCAGGGTTCTTTC -3'

Posted On

2013-04-16