Mutagenetix > Incidental Mutation

Incidental Mutation 'R6687:Col5a2'

527815

Institutional Source

Beutler Lab

Gene Symbol

Col5a2

Ensembl Gene

ENSMUSG00000026042

Gene Name

collagen, type V, alpha 2

Synonyms

1110014L14Rik

MMRRC Submission

044805-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6687 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45413491-45542442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45422764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1151 (L1151H)

Ref Sequence

ENSEMBL: ENSMUSP00000083620 (fasta)

Gene Model

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

AlphaFold

Q3U962

Predicted Effect

probably damaging
Transcript: ENSMUST00000086430
AA Change: L1151H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042
AA Change: L1151H

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (33/33)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,248,392 (GRCm39)	V688A	probably benign	Het
AI661453	A	G	17: 47,777,927 (GRCm39)		probably benign	Het
Atp6ap1l	A	G	13: 91,034,842 (GRCm39)	F180S	probably benign	Het
Cfd	G	A	10: 79,727,553 (GRCm39)	V77M	probably damaging	Het
Dennd3	G	A	15: 73,428,215 (GRCm39)	V854M	possibly damaging	Het
Dlg5	C	T	14: 24,240,441 (GRCm39)	R247Q	probably damaging	Het
Fam3c	G	C	6: 22,328,669 (GRCm39)	P53A	probably benign	Het
Gpbp1	T	C	13: 111,574,619 (GRCm39)	N302D	possibly damaging	Het
Hmcn1	A	G	1: 150,620,784 (GRCm39)	V1142A	probably benign	Het
Ighv9-3	G	A	12: 114,104,544 (GRCm39)	S40F	probably damaging	Het
Insr	C	T	8: 3,248,111 (GRCm39)	R478H	probably benign	Het
Kcna2	C	A	3: 107,012,343 (GRCm39)	S308Y	probably damaging	Het
Larp1	A	G	11: 57,948,156 (GRCm39)	D985G	probably damaging	Het
Loxl3	A	T	6: 83,027,645 (GRCm39)	H729L	probably damaging	Het
Lrrc14b	T	C	13: 74,508,881 (GRCm39)	M509V	probably benign	Het
Lrrc8e	A	G	8: 4,284,798 (GRCm39)	Y341C	probably damaging	Het
Mettl18	A	G	1: 163,824,369 (GRCm39)	D230G	possibly damaging	Het
Mup12	T	C	4: 60,697,308 (GRCm39)		probably benign	Het
Myo1c	T	C	11: 75,563,027 (GRCm39)	S1020P	probably benign	Het
Or3a4	C	A	11: 73,945,210 (GRCm39)	R125L	probably damaging	Het
Phkb	T	C	8: 86,756,175 (GRCm39)	I823T	probably damaging	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Rpap2	T	C	5: 107,751,496 (GRCm39)		probably null	Het
Rpl38	T	C	11: 114,559,594 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,872,508 (GRCm39)	F516L	probably benign	Het
Slc51a	A	T	16: 32,298,543 (GRCm39)	D71E	probably damaging	Het
Slco1a6	T	C	6: 142,045,076 (GRCm39)	E470G	possibly damaging	Het
Spag17	C	A	3: 100,000,266 (GRCm39)	H1811N	probably benign	Het
Sycp2	C	T	2: 177,996,753 (GRCm39)	C1150Y	probably damaging	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Wdr83	C	T	8: 85,806,778 (GRCm39)	V101I	probably benign	Het
Wnt3	G	T	11: 103,703,411 (GRCm39)	R298L	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
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
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'- ACCAAAGACAGCTGTGTAGG -3'
(R):5'- ATTCTTACAGGCAGCATGGAAAG -3'

Sequencing Primer
(F):5'- AAAGAGGCATGTAGCTTTTTGC -3'
(R):5'- CTTACAGGCAGCATGGAAAGTAAATC -3'

Posted On

2018-07-23