Mutagenetix > Incidental Mutation

Incidental Mutation 'R1147:Col5a2'

165136

Institutional Source

Beutler Lab

Gene Symbol

Col5a2

Ensembl Gene

ENSMUSG00000026042

Gene Name

collagen, type V, alpha 2

Synonyms

1110014L14Rik

MMRRC Submission

039220-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1147 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45413491-45542442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45415931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1405 (N1405K)

Ref Sequence

ENSEMBL: ENSMUSP00000083620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086430]

AlphaFold

Q3U962

Predicted Effect

probably damaging
Transcript: ENSMUST00000086430
AA Change: N1405K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042
AA Change: N1405K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VWC	40	95	9.94e-23	SMART
Pfam:Collagen	123	186	1.5e-10	PFAM
Pfam:Collagen	207	272	2.9e-9	PFAM
low complexity region	319	347	N/A	INTRINSIC
internal_repeat_1	349	421	3.18e-18	PROSPERO
internal_repeat_2	385	422	1.34e-12	PROSPERO
internal_repeat_5	388	423	1.55e-7	PROSPERO
low complexity region	424	460	N/A	INTRINSIC
low complexity region	471	508	N/A	INTRINSIC
internal_repeat_6	509	535	5.68e-7	PROSPERO
internal_repeat_2	511	548	1.34e-12	PROSPERO
internal_repeat_3	520	549	1.16e-11	PROSPERO
internal_repeat_1	520	571	3.18e-18	PROSPERO
internal_repeat_4	546	574	4.91e-9	PROSPERO
low complexity region	595	611	N/A	INTRINSIC
internal_repeat_7	616	741	1.35e-6	PROSPERO
low complexity region	742	757	N/A	INTRINSIC
Pfam:Collagen	790	870	4.8e-8	PFAM
low complexity region	877	898	N/A	INTRINSIC
Pfam:Collagen	907	979	4.2e-8	PFAM
internal_repeat_4	993	1021	4.91e-9	PROSPERO
internal_repeat_3	994	1023	1.16e-11	PROSPERO
low complexity region	1024	1054	N/A	INTRINSIC
internal_repeat_6	1055	1078	5.68e-7	PROSPERO
low complexity region	1081	1096	N/A	INTRINSIC
Pfam:Collagen	1111	1171	9.7e-12	PFAM
Pfam:Collagen	1168	1230	1.4e-9	PFAM
COLFI	1263	1497	1.83e-164	SMART

Meta Mutation Damage Score

0.8088

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: This gene encodes the alpha-2 subunit of type V collagen, one of the low abundance fibrillar collagens that gets incorporated into growing fibrils with type I collagen. The encoded protein, in association with alpha-1 and/or alpha-3 subunits, forms homo- or heterotrimeric type V procollagen that undergoes proteolytic processing. Mice lacking the encoded protein die in utero. Transgenic mice that produce a structurally abnormal form of the encoded protein survive poorly and exhibit skin fragility, skeletal abnormalities and alterations in the collagen fiber organization. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	C	8: 41,248,655 (GRCm39)	I255T	possibly damaging	Het
Aknad1	T	A	3: 108,659,857 (GRCm39)	N290K	possibly damaging	Het
Ano8	C	A	8: 71,934,661 (GRCm39)	V447F	probably damaging	Het
Arhgef12	C	T	9: 42,955,552 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	A	T	3: 88,892,194 (GRCm39)	M1358L	possibly damaging	Het
Ccdc110	A	G	8: 46,397,121 (GRCm39)	K837E	possibly damaging	Het
Cd19	T	A	7: 126,010,217 (GRCm39)	D384V	possibly damaging	Het
Ces1f	C	T	8: 93,984,909 (GRCm39)	V473I	possibly damaging	Het
Chd6	C	T	2: 160,832,191 (GRCm39)	E994K	probably damaging	Het
Dnah7b	A	G	1: 46,379,426 (GRCm39)	D3720G	probably damaging	Het
Dsel	T	C	1: 111,789,939 (GRCm39)	T199A	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Flacc1	A	T	1: 58,708,622 (GRCm39)	Y215N	probably damaging	Het
Hrg	G	T	16: 22,779,754 (GRCm39)	C344F	probably damaging	Het
Htt	T	C	5: 35,008,596 (GRCm39)	Y1462H	probably damaging	Het
Kcnh2	T	A	5: 24,529,385 (GRCm39)	I784F	probably damaging	Het
Kifc3	T	C	8: 95,864,546 (GRCm39)	T55A	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lsamp	G	A	16: 41,994,499 (GRCm39)		probably benign	Het
Meis3	G	A	7: 15,917,701 (GRCm39)		probably benign	Het
Nlrp4d	A	T	7: 10,122,644 (GRCm39)	N73K	probably benign	Het
Oog3	A	G	4: 143,884,982 (GRCm39)	F318S	possibly damaging	Het
Or2a20	A	T	6: 43,194,146 (GRCm39)	T100S	probably damaging	Het
Or52w1	G	A	7: 105,018,484 (GRCm39)	R308Q	probably benign	Het
Pde5a	C	T	3: 122,587,962 (GRCm39)	T376M	probably damaging	Het
Pkhd1l1	A	G	15: 44,400,837 (GRCm39)	I2204V	probably null	Het
Ppp1r13l	A	G	7: 19,109,772 (GRCm39)	D731G	probably damaging	Het
Prob1	G	A	18: 35,787,859 (GRCm39)	Q132*	probably null	Het
Ptk6	C	T	2: 180,837,590 (GRCm39)	G443D	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,730,504 (GRCm39)	D749G	probably damaging	Het
Ralgapa1	A	T	12: 55,749,265 (GRCm39)	D1212E	probably damaging	Het
Rsad1	T	C	11: 94,434,966 (GRCm39)	Y290C	probably damaging	Het
Scamp1	A	G	13: 94,361,394 (GRCm39)		probably null	Het
Slc6a11	T	A	6: 114,221,831 (GRCm39)	I507N	possibly damaging	Het
Stx18	T	G	5: 38,284,267 (GRCm39)		probably benign	Het
Sybu	A	T	15: 44,609,651 (GRCm39)	F78I	probably damaging	Het
Tecpr2	T	G	12: 110,907,872 (GRCm39)		probably benign	Het
Tox	A	T	4: 6,823,055 (GRCm39)	N87K	possibly damaging	Het
Trrap	G	A	5: 144,741,576 (GRCm39)	G1308R	probably damaging	Het
Trub2	A	G	2: 29,677,644 (GRCm39)		probably benign	Het
Vmn2r114	A	T	17: 23,530,037 (GRCm39)	H123Q	probably benign	Het
Vmn2r15	T	A	5: 109,441,072 (GRCm39)	Y262F	probably damaging	Het
Vmn2r33	C	T	7: 7,557,144 (GRCm39)	E519K	probably benign	Het
Zfat	A	T	15: 68,084,432 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,351,017 (GRCm39)	C1545S	probably damaging	Het

Other mutations in Col5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Col5a2	APN	1	45,432,037 (GRCm39)	splice site	probably benign
IGL00978:Col5a2	APN	1	45,415,899 (GRCm39)	missense	probably benign	0.01
IGL01366:Col5a2	APN	1	45,431,048 (GRCm39)	missense	possibly damaging	0.46
IGL01487:Col5a2	APN	1	45,415,899 (GRCm39)	missense	probably benign	0.01
IGL01820:Col5a2	APN	1	45,481,985 (GRCm39)	missense	unknown
IGL01980:Col5a2	APN	1	45,421,393 (GRCm39)	splice site	probably benign
IGL02063:Col5a2	APN	1	45,442,579 (GRCm39)	critical splice donor site	probably null
IGL02134:Col5a2	APN	1	45,430,230 (GRCm39)	splice site	probably null
IGL02233:Col5a2	APN	1	45,422,747 (GRCm39)	splice site	probably null
IGL02489:Col5a2	APN	1	45,431,971 (GRCm39)	splice site	probably null
IGL02928:Col5a2	APN	1	45,424,180 (GRCm39)	missense	probably benign	0.41
IGL02931:Col5a2	APN	1	45,424,225 (GRCm39)	missense	probably damaging	1.00
IGL03328:Col5a2	APN	1	45,415,306 (GRCm39)	missense	possibly damaging	0.94
Beatnik	UTSW	1	45,415,938 (GRCm39)	missense	probably damaging	0.99
R0022:Col5a2	UTSW	1	45,422,843 (GRCm39)	nonsense	probably null
R0123:Col5a2	UTSW	1	45,446,195 (GRCm39)	missense	probably benign	0.28
R0180:Col5a2	UTSW	1	45,450,620 (GRCm39)	missense	probably damaging	1.00
R0225:Col5a2	UTSW	1	45,446,195 (GRCm39)	missense	probably benign	0.28
R0455:Col5a2	UTSW	1	45,421,262 (GRCm39)	splice site	probably benign
R0485:Col5a2	UTSW	1	45,417,642 (GRCm39)	missense	probably damaging	0.99
R0702:Col5a2	UTSW	1	45,419,291 (GRCm39)	missense	possibly damaging	0.54
R0745:Col5a2	UTSW	1	45,446,387 (GRCm39)	splice site	probably null
R1147:Col5a2	UTSW	1	45,415,931 (GRCm39)	missense	probably damaging	0.99
R1394:Col5a2	UTSW	1	45,442,579 (GRCm39)	critical splice donor site	probably null
R1494:Col5a2	UTSW	1	45,542,074 (GRCm39)	start codon destroyed	unknown
R1499:Col5a2	UTSW	1	45,450,626 (GRCm39)	missense	probably benign	0.00
R1733:Col5a2	UTSW	1	45,446,192 (GRCm39)	missense	possibly damaging	0.81
R1789:Col5a2	UTSW	1	45,433,936 (GRCm39)	missense	probably damaging	0.98
R1789:Col5a2	UTSW	1	45,417,465 (GRCm39)	critical splice donor site	probably null
R2114:Col5a2	UTSW	1	45,415,964 (GRCm39)	missense	probably damaging	0.98
R2915:Col5a2	UTSW	1	45,452,656 (GRCm39)	missense	probably damaging	1.00
R3861:Col5a2	UTSW	1	45,419,397 (GRCm39)	missense	probably damaging	0.98
R4015:Col5a2	UTSW	1	45,442,631 (GRCm39)	missense	probably benign	0.14
R4944:Col5a2	UTSW	1	45,415,855 (GRCm39)	missense	possibly damaging	0.75
R4982:Col5a2	UTSW	1	45,428,618 (GRCm39)	missense	possibly damaging	0.88
R5001:Col5a2	UTSW	1	45,542,058 (GRCm39)	missense	unknown
R5159:Col5a2	UTSW	1	45,425,991 (GRCm39)	critical splice donor site	probably null
R5197:Col5a2	UTSW	1	45,432,241 (GRCm39)	missense	probably benign	0.01
R5407:Col5a2	UTSW	1	45,445,440 (GRCm39)	missense	possibly damaging	0.54
R5502:Col5a2	UTSW	1	45,419,286 (GRCm39)	missense	probably damaging	1.00
R5575:Col5a2	UTSW	1	45,417,642 (GRCm39)	missense	probably damaging	0.99
R5622:Col5a2	UTSW	1	45,466,219 (GRCm39)	missense	probably benign
R5643:Col5a2	UTSW	1	45,429,202 (GRCm39)	missense	probably damaging	1.00
R5801:Col5a2	UTSW	1	45,428,641 (GRCm39)	critical splice acceptor site	probably null
R6075:Col5a2	UTSW	1	45,542,008 (GRCm39)	missense	unknown
R6211:Col5a2	UTSW	1	45,415,826 (GRCm39)	missense	probably damaging	0.99
R6407:Col5a2	UTSW	1	45,415,938 (GRCm39)	missense	probably damaging	0.99
R6494:Col5a2	UTSW	1	45,417,487 (GRCm39)	missense	probably damaging	0.99
R6582:Col5a2	UTSW	1	45,429,275 (GRCm39)	missense	possibly damaging	0.91
R6687:Col5a2	UTSW	1	45,422,764 (GRCm39)	missense	probably damaging	1.00
R7007:Col5a2	UTSW	1	45,417,609 (GRCm39)	missense	possibly damaging	0.53
R7062:Col5a2	UTSW	1	45,456,785 (GRCm39)	missense	probably benign	0.00
R7098:Col5a2	UTSW	1	45,419,227 (GRCm39)	missense	possibly damaging	0.48
R7243:Col5a2	UTSW	1	45,415,320 (GRCm39)	missense	probably benign	0.39
R7326:Col5a2	UTSW	1	45,482,027 (GRCm39)	missense	unknown
R7332:Col5a2	UTSW	1	45,419,325 (GRCm39)	missense	probably damaging	1.00
R7642:Col5a2	UTSW	1	45,415,248 (GRCm39)	missense	probably benign	0.01
R7890:Col5a2	UTSW	1	45,444,147 (GRCm39)	splice site	probably null
R8066:Col5a2	UTSW	1	45,452,628 (GRCm39)	critical splice donor site	probably null
R8375:Col5a2	UTSW	1	45,481,890 (GRCm39)	missense	unknown
R8444:Col5a2	UTSW	1	45,435,305 (GRCm39)	missense	probably benign	0.06
R8506:Col5a2	UTSW	1	45,481,944 (GRCm39)	missense	unknown
R8686:Col5a2	UTSW	1	45,461,147 (GRCm39)	missense	probably damaging	1.00
R8907:Col5a2	UTSW	1	45,456,106 (GRCm39)	missense	probably benign	0.27
R8932:Col5a2	UTSW	1	45,419,306 (GRCm39)	missense	probably benign	0.00
R8933:Col5a2	UTSW	1	45,461,123 (GRCm39)	missense
R9087:Col5a2	UTSW	1	45,481,818 (GRCm39)	missense	unknown
R9105:Col5a2	UTSW	1	45,419,366 (GRCm39)	missense	probably benign	0.00
R9282:Col5a2	UTSW	1	45,478,029 (GRCm39)	critical splice donor site	probably null
R9457:Col5a2	UTSW	1	45,431,973 (GRCm39)	critical splice donor site	probably null
R9457:Col5a2	UTSW	1	45,426,004 (GRCm39)	missense	probably benign	0.00
R9568:Col5a2	UTSW	1	45,430,998 (GRCm39)	missense	possibly damaging	0.89
R9727:Col5a2	UTSW	1	45,415,818 (GRCm39)	missense	possibly damaging	0.50
X0013:Col5a2	UTSW	1	45,442,418 (GRCm39)	critical splice donor site	probably null
Z1176:Col5a2	UTSW	1	45,435,644 (GRCm39)	missense	probably benign	0.11
Z1176:Col5a2	UTSW	1	45,422,840 (GRCm39)	missense	probably damaging	1.00
Z1176:Col5a2	UTSW	1	45,415,306 (GRCm39)	missense	possibly damaging	0.94
Z1177:Col5a2	UTSW	1	45,442,633 (GRCm39)	missense	probably damaging	1.00
Z1177:Col5a2	UTSW	1	45,441,273 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTGAACGTACAGCTCTGGTAAG -3'
(R):5'- CTGTCGATCTACCTGGCATTGACTC -3'

Sequencing Primer
(F):5'- GAAATGCCAATCAGTGAGTCTC -3'
(R):5'- ACCTGGCATTGACTCTTTGG -3'

Posted On

2014-03-28