Mutagenetix > Incidental Mutation

Incidental Mutation 'R5673:Col1a2'

442719

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

043175-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4505618-4541543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4539622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1297 (L1297F)

Ref Sequence

ENSEMBL: ENSMUSP00000031668 (fasta)

Gene Model

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

AlphaFold

Q01149

Predicted Effect

unknown
Transcript: ENSMUST00000031668
AA Change: L1297F

SMART Domains

Protein: ENSMUSP00000031668
Gene: ENSMUSG00000029661
AA Change: L1297F

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,877,886 (GRCm39)	M94K	probably damaging	Het
Adam2	A	G	14: 66,306,681 (GRCm39)	Y103H	probably benign	Het
Adamts17	T	C	7: 66,691,555 (GRCm39)	C580R	probably damaging	Het
Aqp5	G	A	15: 99,492,046 (GRCm39)	V98I	probably benign	Het
Brd2	A	G	17: 34,331,581 (GRCm39)		probably benign	Het
Cd177	T	C	7: 24,449,787 (GRCm39)	N566S	probably damaging	Het
Cdh23	C	T	10: 60,143,636 (GRCm39)	D2992N	probably damaging	Het
Cfap69	T	C	5: 5,646,027 (GRCm39)	T140A	possibly damaging	Het
Cfi	A	G	3: 129,648,658 (GRCm39)	I181V	probably benign	Het
Cnksr1	A	G	4: 133,962,499 (GRCm39)	L133P	probably damaging	Het
Crot	T	C	5: 9,038,131 (GRCm39)	N132S	probably benign	Het
Dnah3	T	A	7: 119,550,812 (GRCm39)	Q3169L	possibly damaging	Het
Dnah8	T	A	17: 31,022,235 (GRCm39)	M3945K	probably damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fam204a	T	C	19: 60,188,415 (GRCm39)	K216E	probably damaging	Het
Far2	A	T	6: 148,047,602 (GRCm39)	S94C	possibly damaging	Het
Gm14226	T	A	2: 154,866,842 (GRCm39)	S266R	possibly damaging	Het
Gpr137	A	G	19: 6,916,466 (GRCm39)	F276L	probably damaging	Het
Lhx3	T	C	2: 26,093,006 (GRCm39)	Y148C	probably damaging	Het
Lrfn2	T	C	17: 49,403,625 (GRCm39)	S583P	probably benign	Het
Lrrc40	A	G	3: 157,754,035 (GRCm39)		probably null	Het
Mast4	A	T	13: 102,930,580 (GRCm39)	I224N	probably damaging	Het
Meis1	T	C	11: 18,962,812 (GRCm39)	K161E	probably damaging	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Mrgprb2	A	T	7: 48,202,121 (GRCm39)	F201L	probably benign	Het
Mroh1	T	A	15: 76,314,381 (GRCm39)	L686Q	probably damaging	Het
Mybbp1a	G	A	11: 72,335,751 (GRCm39)	V421I	probably benign	Het
Nadk	G	A	4: 155,669,642 (GRCm39)	V143I	possibly damaging	Het
Nell1	A	T	7: 49,878,594 (GRCm39)	T272S	probably damaging	Het
Npnt	A	T	3: 132,623,258 (GRCm39)	C94S	probably damaging	Het
Olfml2b	T	A	1: 170,509,698 (GRCm39)	V682E	probably damaging	Het
Pacs2	G	A	12: 113,032,618 (GRCm39)	V655M	probably damaging	Het
Pcdha1	A	C	18: 37,063,726 (GRCm39)	N130T	probably damaging	Het
Resf1	C	T	6: 149,229,491 (GRCm39)	Q846*	probably null	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,257,105 (GRCm39)	S566P	probably damaging	Het
Sirpa	T	G	2: 129,472,022 (GRCm39)	V483G	probably damaging	Het
Sox5	T	C	6: 144,062,206 (GRCm39)	R149G	probably damaging	Het
Tbc1d4	A	G	14: 101,692,444 (GRCm39)	S1007P	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,905 (GRCm39)	F317L	probably benign	Het
Ttn	T	C	2: 76,547,389 (GRCm39)	K32219R	probably damaging	Het
Vmn1r170	A	T	7: 23,305,630 (GRCm39)	T11S	possibly damaging	Het
Vmn2r65	G	T	7: 84,596,615 (GRCm39)	L147I	probably benign	Het
Vmn2r77	C	T	7: 86,461,214 (GRCm39)	H847Y	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
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'- GGCGTCTATTTAAGAGTTCACACC -3'
(R):5'- TTCAGAGAATTGTTGGATGCAC -3'

Sequencing Primer
(F):5'- AAGAGTTCACACCTTCTTCTCCATAG -3'
(R):5'- AGGTCAATTAAGTTAGGCCTCTC -3'

Posted On

2016-11-09