Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Col5a1'

676741

Institutional Source

Beutler Lab

Gene Symbol

Col5a1

Ensembl Gene

ENSMUSG00000026837

Gene Name

collagen, type V, alpha 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27886425-28039514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28014158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1356 (A1356S)

Ref Sequence

ENSEMBL: ENSMUSP00000028280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028280] [ENSMUST00000145423]

AlphaFold

O88207

Predicted Effect

unknown
Transcript: ENSMUST00000028280
AA Change: A1356S

SMART Domains

Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837
AA Change: A1356S

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
TSPN	39	230	5.7e-73	SMART
LamG	98	229	6.86e-3	SMART
low complexity region	259	288	N/A	INTRINSIC
low complexity region	300	314	N/A	INTRINSIC
low complexity region	335	352	N/A	INTRINSIC
low complexity region	374	387	N/A	INTRINSIC
low complexity region	412	428	N/A	INTRINSIC
internal_repeat_7	443	457	9.97e-7	PROSPERO
Pfam:Collagen	467	519	4e-10	PFAM
Pfam:Collagen	557	619	6.5e-9	PFAM
internal_repeat_2	622	642	1.83e-11	PROSPERO
low complexity region	643	698	N/A	INTRINSIC
low complexity region	712	757	N/A	INTRINSIC
low complexity region	760	793	N/A	INTRINSIC
internal_repeat_5	794	817	3.78e-8	PROSPERO
internal_repeat_7	798	812	9.97e-7	PROSPERO
internal_repeat_8	802	821	8.84e-6	PROSPERO
low complexity region	826	862	N/A	INTRINSIC
internal_repeat_3	865	889	2.79e-10	PROSPERO
internal_repeat_5	869	892	3.78e-8	PROSPERO
low complexity region	895	925	N/A	INTRINSIC
internal_repeat_2	928	948	1.83e-11	PROSPERO
internal_repeat_4	928	948	1.27e-8	PROSPERO
low complexity region	949	979	N/A	INTRINSIC
low complexity region	984	1033	N/A	INTRINSIC
internal_repeat_4	1039	1062	1.27e-8	PROSPERO
internal_repeat_1	1039	1063	5.12e-15	PROSPERO
internal_repeat_3	1048	1072	2.79e-10	PROSPERO
internal_repeat_6	1049	1072	1.13e-7	PROSPERO
low complexity region	1075	1117	N/A	INTRINSIC
low complexity region	1134	1165	N/A	INTRINSIC
low complexity region	1174	1193	N/A	INTRINSIC
internal_repeat_8	1195	1214	8.84e-6	PROSPERO
low complexity region	1215	1243	N/A	INTRINSIC
low complexity region	1249	1282	N/A	INTRINSIC
low complexity region	1285	1421	N/A	INTRINSIC
internal_repeat_1	1423	1447	5.12e-15	PROSPERO
Pfam:Collagen	1460	1529	8.4e-9	PFAM
Pfam:Collagen	1513	1575	1.2e-9	PFAM
COLFI	1608	1837	3.33e-153	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145423

SMART Domains

Protein: ENSMUSP00000123532
Gene: ENSMUSG00000026837

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	50	2.7e-10	PFAM
COLFI	119	348	3.33e-153	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Cuzd1	A	G	7: 131,308,848	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704		probably benign	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709		probably benign	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	probably benign	Het

Other mutations in Col5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Col5a1	APN	2	27971444	splice site	probably benign
IGL01340:Col5a1	APN	2	27960451	missense	unknown
IGL01938:Col5a1	APN	2	27996873	missense	unknown
IGL02167:Col5a1	APN	2	28018556	missense	probably benign
IGL02670:Col5a1	APN	2	27974715	missense	unknown
IGL02672:Col5a1	APN	2	27974715	missense	unknown
IGL02673:Col5a1	APN	2	27974715	missense	unknown
IGL02832:Col5a1	APN	2	27952340	missense	unknown
IGL03065:Col5a1	APN	2	28032745	missense	possibly damaging	0.61
IGL03196:Col5a1	APN	2	27975598	missense	unknown
PIT4131001:Col5a1	UTSW	2	28024653	missense	probably benign	0.01
PIT4495001:Col5a1	UTSW	2	28024776	missense	unknown
R0136:Col5a1	UTSW	2	28024831	missense	probably damaging	1.00
R0485:Col5a1	UTSW	2	27990097	splice site	probably benign
R0626:Col5a1	UTSW	2	27928243	nonsense	probably null
R0666:Col5a1	UTSW	2	28032685	missense	probably damaging	1.00
R1268:Col5a1	UTSW	2	28002489	missense	unknown
R1302:Col5a1	UTSW	2	28005236	missense	probably damaging	1.00
R1416:Col5a1	UTSW	2	27922064	missense	unknown
R1466:Col5a1	UTSW	2	28003846	splice site	probably benign
R1617:Col5a1	UTSW	2	27952381	missense	unknown
R1650:Col5a1	UTSW	2	27922159	missense	unknown
R1663:Col5a1	UTSW	2	27951476	missense	unknown
R1901:Col5a1	UTSW	2	27960444	missense	unknown
R1970:Col5a1	UTSW	2	27986754	missense	unknown
R2377:Col5a1	UTSW	2	27928177	missense	unknown
R2396:Col5a1	UTSW	2	27986729	missense	unknown
R4297:Col5a1	UTSW	2	28017204	critical splice donor site	probably null
R4385:Col5a1	UTSW	2	28024779	missense	probably damaging	1.00
R4803:Col5a1	UTSW	2	28011341	missense	unknown
R4835:Col5a1	UTSW	2	28025644	missense	probably damaging	1.00
R4935:Col5a1	UTSW	2	28024742	missense	probably damaging	1.00
R4994:Col5a1	UTSW	2	28032739	missense	possibly damaging	0.90
R4997:Col5a1	UTSW	2	28032782	nonsense	probably null
R5061:Col5a1	UTSW	2	27952378	missense	unknown
R5088:Col5a1	UTSW	2	28018602	nonsense	probably null
R5089:Col5a1	UTSW	2	28018602	nonsense	probably null
R5090:Col5a1	UTSW	2	28018602	nonsense	probably null
R5114:Col5a1	UTSW	2	28025652	missense	probably damaging	1.00
R5409:Col5a1	UTSW	2	27960445	missense	unknown
R5649:Col5a1	UTSW	2	27951456	missense	unknown
R5699:Col5a1	UTSW	2	27997599	missense	unknown
R5910:Col5a1	UTSW	2	28036888	missense	possibly damaging	0.89
R6053:Col5a1	UTSW	2	28014377	unclassified	probably benign
R6210:Col5a1	UTSW	2	28032621	missense	probably benign	0.04
R6363:Col5a1	UTSW	2	27928195	missense	unknown
R6478:Col5a1	UTSW	2	27952436	missense	unknown
R6600:Col5a1	UTSW	2	27997571	missense	unknown
R7047:Col5a1	UTSW	2	27928084	missense	unknown
R7061:Col5a1	UTSW	2	28025678	nonsense	probably null
R7131:Col5a1	UTSW	2	27929486	missense	unknown
R7202:Col5a1	UTSW	2	27952378	missense	unknown
R7270:Col5a1	UTSW	2	27997585	missense	unknown
R7385:Col5a1	UTSW	2	28024750	missense	unknown
R7492:Col5a1	UTSW	2	27969800	critical splice donor site	probably null
R7570:Col5a1	UTSW	2	27951383	missense	unknown
R7627:Col5a1	UTSW	2	27950653	nonsense	probably null
R8003:Col5a1	UTSW	2	27958328	intron	probably benign
R8011:Col5a1	UTSW	2	27980521	splice site	probably benign
R8073:Col5a1	UTSW	2	27962129	missense	possibly damaging	0.85
R8217:Col5a1	UTSW	2	27922123	missense	unknown
R8911:Col5a1	UTSW	2	27997618	critical splice donor site	probably null
R9082:Col5a1	UTSW	2	27962110	missense	possibly damaging	0.73
R9095:Col5a1	UTSW	2	28024653	missense	probably benign	0.01
R9170:Col5a1	UTSW	2	27951351	missense	unknown
R9264:Col5a1	UTSW	2	27964111	missense	unknown
R9265:Col5a1	UTSW	2	27964111	missense	unknown
R9461:Col5a1	UTSW	2	28032604	missense	unknown
R9596:Col5a1	UTSW	2	27929539	nonsense	probably null
R9614:Col5a1	UTSW	2	27989174	missense	unknown
R9691:Col5a1	UTSW	2	27952982	missense	unknown
R9743:Col5a1	UTSW	2	27974493	missense	unknown
Z1176:Col5a1	UTSW	2	28002517	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTCACTAGAGTCCAAAGAGCAG -3'
(R):5'- TTCATCCTCCAGTCCAAGTGTG -3'

Sequencing Primer
(F):5'- GAACTCTTTAGGATAGGGTTCCCC -3'
(R):5'- AGTCCAAGTGTGTCCTCAGGTC -3'

Posted On

2021-07-15