Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Col5a2'

201573

Institutional Source

Beutler Lab

Gene Symbol

Col5a2

Ensembl Gene

ENSMUSG00000026042

Gene Name

collagen, type V, alpha 2

Synonyms

1110014L14Rik

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45374321-45503282 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 45378305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083620 (fasta)

Gene Model

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

AlphaFold

Q3U962

Predicted Effect

probably null
Transcript: ENSMUST00000086430

SMART Domains

Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042

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

Predicted Effect

probably null
Transcript: ENSMUST00000086430

SMART Domains

Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951 (GRCm38)	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393 (GRCm38)	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115 (GRCm38)	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126 (GRCm38)	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165 (GRCm38)	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005 (GRCm38)	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870 (GRCm38)	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067 (GRCm38)	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560 (GRCm38)	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450 (GRCm38)	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808 (GRCm38)	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097 (GRCm38)	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993 (GRCm38)		probably null	Het
Chrna5	T	C	9: 55,004,651 (GRCm38)	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921 (GRCm38)	G163R	probably damaging	Het
Comp	A	G	8: 70,377,146 (GRCm38)	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395 (GRCm38)	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780 (GRCm38)	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426 (GRCm38)	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919 (GRCm38)	Y478H	probably damaging	Het
Fat3	T	C	9: 16,376,985 (GRCm38)	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389 (GRCm38)	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562 (GRCm38)	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735 (GRCm38)	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584 (GRCm38)	R404S	probably benign	Het
Gm8773	A	T	5: 5,575,652 (GRCm38)	Q116L	possibly damaging	Het
Gpd1	T	G	15: 99,723,202 (GRCm38)	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057 (GRCm38)		probably benign	Het
Grin3b	T	C	10: 79,973,408 (GRCm38)	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718 (GRCm38)	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781 (GRCm38)	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933 (GRCm38)	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512 (GRCm38)		probably null	Het
Itgb8	T	C	12: 119,202,455 (GRCm38)	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384 (GRCm38)	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008 (GRCm38)	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361 (GRCm38)	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074 (GRCm38)		probably benign	Het
L3mbtl1	A	G	2: 162,974,502 (GRCm38)	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578 (GRCm38)	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622 (GRCm38)	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345 (GRCm38)	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670 (GRCm38)		probably null	Het
Myo10	T	G	15: 25,726,525 (GRCm38)		probably null	Het
Myo1e	T	A	9: 70,338,784 (GRCm38)	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572 (GRCm38)	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095 (GRCm38)	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127 (GRCm38)	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003 (GRCm38)	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556 (GRCm38)	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890 (GRCm38)	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431 (GRCm38)	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490 (GRCm38)	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725 (GRCm38)	S126C	probably damaging	Het
Olfr1128	A	T	2: 87,544,983 (GRCm38)	L187H	probably damaging	Het
Olfr130	T	C	17: 38,067,948 (GRCm38)	I259T	probably damaging	Het
Olfr215	A	C	6: 116,582,697 (GRCm38)	F83C	probably damaging	Het
Olfr484	A	G	7: 108,124,915 (GRCm38)	F116S	probably benign	Het
Olfr804	T	C	10: 129,705,607 (GRCm38)	M243T	possibly damaging	Het
Olfr818	A	T	10: 129,945,582 (GRCm38)	L160*	probably null	Het
Pdzd7	A	G	19: 45,039,228 (GRCm38)	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206 (GRCm38)	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754 (GRCm38)	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632 (GRCm38)	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524 (GRCm38)	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536 (GRCm38)	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730 (GRCm38)	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565 (GRCm38)	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799 (GRCm38)	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073 (GRCm38)	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221 (GRCm38)	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273 (GRCm38)	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242 (GRCm38)	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798 (GRCm38)	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360 (GRCm38)	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219 (GRCm38)	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459 (GRCm38)		probably benign	Het
Spag17	T	A	3: 99,939,356 (GRCm38)	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488 (GRCm38)		probably benign	Het
Stil	T	A	4: 115,041,782 (GRCm38)	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838 (GRCm38)	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246 (GRCm38)	Q478*	probably null	Het
Tg	A	T	15: 66,737,548 (GRCm38)	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033 (GRCm38)	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034 (GRCm38)	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364 (GRCm38)	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635 (GRCm38)	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947 (GRCm38)	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780 (GRCm38)	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993 (GRCm38)	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367 (GRCm38)	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053 (GRCm38)	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339 (GRCm38)	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123 (GRCm38)	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600 (GRCm38)	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525 (GRCm38)	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435 (GRCm38)		probably null	Het
Zfp277	A	G	12: 40,364,085 (GRCm38)	F254L	probably benign	Het

Other mutations in Col5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Col5a2	APN	1	45,392,877 (GRCm38)	splice site	probably benign
IGL00978:Col5a2	APN	1	45,376,739 (GRCm38)	missense	probably benign	0.01
IGL01366:Col5a2	APN	1	45,391,888 (GRCm38)	missense	possibly damaging	0.46
IGL01487:Col5a2	APN	1	45,376,739 (GRCm38)	missense	probably benign	0.01
IGL01820:Col5a2	APN	1	45,442,825 (GRCm38)	missense	unknown
IGL01980:Col5a2	APN	1	45,382,233 (GRCm38)	splice site	probably benign
IGL02063:Col5a2	APN	1	45,403,419 (GRCm38)	critical splice donor site	probably null
IGL02134:Col5a2	APN	1	45,391,070 (GRCm38)	splice site	probably null
IGL02233:Col5a2	APN	1	45,383,587 (GRCm38)	splice site	probably null
IGL02489:Col5a2	APN	1	45,392,811 (GRCm38)	splice site	probably null
IGL02928:Col5a2	APN	1	45,385,020 (GRCm38)	missense	probably benign	0.41
IGL02931:Col5a2	APN	1	45,385,065 (GRCm38)	missense	probably damaging	1.00
IGL03328:Col5a2	APN	1	45,376,146 (GRCm38)	missense	possibly damaging	0.94
Beatnik	UTSW	1	45,376,778 (GRCm38)	missense	probably damaging	0.99
R0022:Col5a2	UTSW	1	45,383,683 (GRCm38)	nonsense	probably null
R0123:Col5a2	UTSW	1	45,407,035 (GRCm38)	missense	probably benign	0.28
R0180:Col5a2	UTSW	1	45,411,460 (GRCm38)	missense	probably damaging	1.00
R0225:Col5a2	UTSW	1	45,407,035 (GRCm38)	missense	probably benign	0.28
R0455:Col5a2	UTSW	1	45,382,102 (GRCm38)	splice site	probably benign
R0485:Col5a2	UTSW	1	45,378,482 (GRCm38)	missense	probably damaging	0.99
R0702:Col5a2	UTSW	1	45,380,131 (GRCm38)	missense	possibly damaging	0.54
R0745:Col5a2	UTSW	1	45,407,227 (GRCm38)	splice site	probably null
R1147:Col5a2	UTSW	1	45,376,771 (GRCm38)	missense	probably damaging	0.99
R1147:Col5a2	UTSW	1	45,376,771 (GRCm38)	missense	probably damaging	0.99
R1394:Col5a2	UTSW	1	45,403,419 (GRCm38)	critical splice donor site	probably null
R1494:Col5a2	UTSW	1	45,502,914 (GRCm38)	start codon destroyed	unknown
R1499:Col5a2	UTSW	1	45,411,466 (GRCm38)	missense	probably benign	0.00
R1733:Col5a2	UTSW	1	45,407,032 (GRCm38)	missense	possibly damaging	0.81
R1789:Col5a2	UTSW	1	45,394,776 (GRCm38)	missense	probably damaging	0.98
R2114:Col5a2	UTSW	1	45,376,804 (GRCm38)	missense	probably damaging	0.98
R2915:Col5a2	UTSW	1	45,413,496 (GRCm38)	missense	probably damaging	1.00
R3861:Col5a2	UTSW	1	45,380,237 (GRCm38)	missense	probably damaging	0.98
R4015:Col5a2	UTSW	1	45,403,471 (GRCm38)	missense	probably benign	0.14
R4944:Col5a2	UTSW	1	45,376,695 (GRCm38)	missense	possibly damaging	0.75
R4982:Col5a2	UTSW	1	45,389,458 (GRCm38)	missense	possibly damaging	0.88
R5001:Col5a2	UTSW	1	45,502,898 (GRCm38)	missense	unknown
R5159:Col5a2	UTSW	1	45,386,831 (GRCm38)	critical splice donor site	probably null
R5197:Col5a2	UTSW	1	45,393,081 (GRCm38)	missense	probably benign	0.01
R5407:Col5a2	UTSW	1	45,406,280 (GRCm38)	missense	possibly damaging	0.54
R5502:Col5a2	UTSW	1	45,380,126 (GRCm38)	missense	probably damaging	1.00
R5575:Col5a2	UTSW	1	45,378,482 (GRCm38)	missense	probably damaging	0.99
R5622:Col5a2	UTSW	1	45,427,059 (GRCm38)	missense	probably benign
R5643:Col5a2	UTSW	1	45,390,042 (GRCm38)	missense	probably damaging	1.00
R5801:Col5a2	UTSW	1	45,389,481 (GRCm38)	critical splice acceptor site	probably null
R6075:Col5a2	UTSW	1	45,502,848 (GRCm38)	missense	unknown
R6211:Col5a2	UTSW	1	45,376,666 (GRCm38)	missense	probably damaging	0.99
R6407:Col5a2	UTSW	1	45,376,778 (GRCm38)	missense	probably damaging	0.99
R6494:Col5a2	UTSW	1	45,378,327 (GRCm38)	missense	probably damaging	0.99
R6582:Col5a2	UTSW	1	45,390,115 (GRCm38)	missense	possibly damaging	0.91
R6687:Col5a2	UTSW	1	45,383,604 (GRCm38)	missense	probably damaging	1.00
R7007:Col5a2	UTSW	1	45,378,449 (GRCm38)	missense	possibly damaging	0.53
R7062:Col5a2	UTSW	1	45,417,625 (GRCm38)	missense	probably benign	0.00
R7098:Col5a2	UTSW	1	45,380,067 (GRCm38)	missense	possibly damaging	0.48
R7243:Col5a2	UTSW	1	45,376,160 (GRCm38)	missense	probably benign	0.39
R7326:Col5a2	UTSW	1	45,442,867 (GRCm38)	missense	unknown
R7332:Col5a2	UTSW	1	45,380,165 (GRCm38)	missense	probably damaging	1.00
R7642:Col5a2	UTSW	1	45,376,088 (GRCm38)	missense	probably benign	0.01
R7890:Col5a2	UTSW	1	45,404,987 (GRCm38)	splice site	probably null
R8066:Col5a2	UTSW	1	45,413,468 (GRCm38)	critical splice donor site	probably null
R8375:Col5a2	UTSW	1	45,442,730 (GRCm38)	missense	unknown
R8444:Col5a2	UTSW	1	45,396,145 (GRCm38)	missense	probably benign	0.06
R8506:Col5a2	UTSW	1	45,442,784 (GRCm38)	missense	unknown
R8686:Col5a2	UTSW	1	45,421,987 (GRCm38)	missense	probably damaging	1.00
R8907:Col5a2	UTSW	1	45,416,946 (GRCm38)	missense	probably benign	0.27
R8932:Col5a2	UTSW	1	45,380,146 (GRCm38)	missense	probably benign	0.00
R8933:Col5a2	UTSW	1	45,421,963 (GRCm38)	missense
R9087:Col5a2	UTSW	1	45,442,658 (GRCm38)	missense	unknown
R9105:Col5a2	UTSW	1	45,380,206 (GRCm38)	missense	probably benign	0.00
R9282:Col5a2	UTSW	1	45,438,869 (GRCm38)	critical splice donor site	probably null
R9457:Col5a2	UTSW	1	45,392,813 (GRCm38)	critical splice donor site	probably null
R9457:Col5a2	UTSW	1	45,386,844 (GRCm38)	missense	probably benign	0.00
R9568:Col5a2	UTSW	1	45,391,838 (GRCm38)	missense	possibly damaging	0.89
R9727:Col5a2	UTSW	1	45,376,658 (GRCm38)	missense	possibly damaging	0.50
X0013:Col5a2	UTSW	1	45,403,258 (GRCm38)	critical splice donor site	probably null
Z1176:Col5a2	UTSW	1	45,396,484 (GRCm38)	missense	probably benign	0.11
Z1176:Col5a2	UTSW	1	45,383,680 (GRCm38)	missense	probably damaging	1.00
Z1176:Col5a2	UTSW	1	45,376,146 (GRCm38)	missense	possibly damaging	0.94
Z1177:Col5a2	UTSW	1	45,403,473 (GRCm38)	missense	probably damaging	1.00
Z1177:Col5a2	UTSW	1	45,402,113 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCAGCTTTACCACCCTTAC -3'
(R):5'- CAGGGATCAGCTGAAGATGC -3'

Sequencing Primer
(F):5'- TTTCCTGGAGTTGAGACAAGACCC -3'
(R):5'- CAGCTGAAGATGCAATCAAAGTTTAC -3'

Posted On

2014-06-23