Mutagenetix > Incidental Mutation

Incidental Mutation 'R5947:Itga5'

472253

Institutional Source

Beutler Lab

Gene Symbol

Itga5

Ensembl Gene

ENSMUSG00000000555

Gene Name

integrin alpha 5 (fibronectin receptor alpha)

Synonyms

Fnra, Cd49e

MMRRC Submission

044138-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103252713-103275190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103265212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 232 (W232R)

Ref Sequence

ENSEMBL: ENSMUSP00000023128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023128] [ENSMUST00000215331]

AlphaFold

P11688

Predicted Effect

probably damaging
Transcript: ENSMUST00000023128
AA Change: W232R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: W232R

Domain	Start	End	E-Value	Type
low complexity region	17	40	N/A	INTRINSIC
Int_alpha	59	118	2.27e-8	SMART
Int_alpha	271	321	9.6e-7	SMART
Int_alpha	325	387	1.03e-15	SMART
Int_alpha	391	447	4.17e-16	SMART
Int_alpha	455	511	1.49e-3	SMART
SCOP:d1m1xa2	651	789	3e-44	SMART
SCOP:d1m1xa3	792	992	1e-62	SMART
transmembrane domain	1003	1025	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230460

Meta Mutation Damage Score

0.9636

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain, which is proteolytically processed to generate light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signaling. Integrin alpha 5 and integrin alpha V chains are produced by distinct genes. Homozygous knockout mice for this gene exhibit embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in posterior trunk and yolk sac mesodermal structures, lack of epithelialization of somites, reduced numbers of Schwann cells, and lethality around embryonic day 10-11. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 124,694,737 (GRCm39)		probably null	Het
Abt1	T	C	13: 23,606,225 (GRCm39)	E243G	possibly damaging	Het
Afap1l1	A	G	18: 61,876,771 (GRCm39)	S361P	probably damaging	Het
Alms1	T	C	6: 85,596,694 (GRCm39)	S507P	probably benign	Het
Atp13a3	A	G	16: 30,181,518 (GRCm39)	V34A	probably benign	Het
Atpaf2	A	T	11: 60,296,708 (GRCm39)		probably benign	Het
Bbs1	A	C	19: 4,943,022 (GRCm39)	L456R	probably benign	Het
Bri3bp	G	T	5: 125,529,217 (GRCm39)	G84*	probably null	Het
Bri3bp	G	C	5: 125,529,218 (GRCm39)		probably benign	Het
Car10	A	C	11: 93,381,439 (GRCm39)	H134P	probably damaging	Het
Cntrl	A	G	2: 35,006,691 (GRCm39)	E119G	probably damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Dppa4	T	C	16: 48,111,471 (GRCm39)	V100A	possibly damaging	Het
Elmo1	G	T	13: 20,474,553 (GRCm39)	E105*	probably null	Het
Esrp2	T	G	8: 106,859,565 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,388,835 (GRCm39)	K108R	possibly damaging	Het
Exph5	G	A	9: 53,286,522 (GRCm39)	R1201H	probably benign	Het
Galnt3	A	C	2: 65,914,500 (GRCm39)		probably benign	Het
Gm14486	C	T	2: 30,548,813 (GRCm39)		noncoding transcript	Het
Gna12	T	A	5: 140,746,717 (GRCm39)	I243F	probably damaging	Het
Lekr1	A	T	3: 65,680,498 (GRCm39)		noncoding transcript	Het
Lrp1	C	T	10: 127,425,423 (GRCm39)		probably null	Het
Mast4	T	C	13: 102,872,148 (GRCm39)	M2215V	probably benign	Het
Mfap5	T	C	6: 122,502,945 (GRCm39)	Y52H	probably damaging	Het
Mrps31	A	G	8: 22,904,991 (GRCm39)	K127E	possibly damaging	Het
Mto1	C	T	9: 78,368,311 (GRCm39)	T485M	probably damaging	Het
Mybbp1a	G	A	11: 72,333,257 (GRCm39)	C107Y	probably damaging	Het
Nedd4	G	A	9: 72,638,132 (GRCm39)		probably benign	Het
Nek2	A	G	1: 191,561,597 (GRCm39)	E360G	probably benign	Het
Notch1	T	A	2: 26,352,540 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,050 (GRCm39)		probably benign	Het
Pcdhb1	G	A	18: 37,399,726 (GRCm39)	R559H	possibly damaging	Het
Pdcd11	G	A	19: 47,117,702 (GRCm39)	V1684I	probably benign	Het
Pggt1b	G	T	18: 46,382,007 (GRCm39)	N258K	probably benign	Het
Pou6f1	C	T	15: 100,484,001 (GRCm39)	V166M	possibly damaging	Het
Pprc1	A	G	19: 46,052,111 (GRCm39)	D546G	possibly damaging	Het
Psapl1	T	C	5: 36,361,651 (GRCm39)	V81A	probably benign	Het
Rin2	T	A	2: 145,686,863 (GRCm39)		probably benign	Het
Rpf1	A	G	3: 146,212,299 (GRCm39)	F347S	probably damaging	Het
Rrp12	A	T	19: 41,859,247 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,771,349 (GRCm39)	L2557Q	probably null	Het
Slc1a7	T	C	4: 107,867,497 (GRCm39)		probably benign	Het
Slc35e2	T	A	4: 155,696,171 (GRCm39)	M186K	possibly damaging	Het
Slc49a4	T	C	16: 35,550,676 (GRCm39)	T308A	probably benign	Het
Snx6	G	T	12: 54,817,549 (GRCm39)	S116*	probably null	Het
Sptan1	T	C	2: 29,884,379 (GRCm39)		probably null	Het
Sucla2	T	A	14: 73,830,109 (GRCm39)	M382K	probably damaging	Het
Susd5	T	C	9: 113,886,659 (GRCm39)	L16P	possibly damaging	Het
Tmem260	G	A	14: 48,724,258 (GRCm39)	A369T	possibly damaging	Het
Tmprss6	A	G	15: 78,336,722 (GRCm39)	Y393H	probably damaging	Het
Tnrc6c	A	T	11: 117,613,345 (GRCm39)	Q501L	probably damaging	Het
Trim17	A	G	11: 58,856,369 (GRCm39)	Y142C	probably damaging	Het
Trim65	T	C	11: 116,019,108 (GRCm39)	R144G	probably damaging	Het
Trpm1	A	G	7: 63,873,547 (GRCm39)	T601A	probably benign	Het
Ttn	A	T	2: 76,564,688 (GRCm39)	V28483E	probably damaging	Het
Ube2l3	T	C	16: 17,019,340 (GRCm39)		probably null	Het
Ube2l3	G	T	16: 17,019,336 (GRCm39)		probably benign	Het
Yme1l1	T	C	2: 23,085,318 (GRCm39)		probably benign	Het
Zfat	A	G	15: 68,051,806 (GRCm39)	S663P	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Itga5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00914:Itga5	APN	15	103,258,799 (GRCm39)	critical splice donor site	probably null
IGL01102:Itga5	APN	15	103,255,102 (GRCm39)	missense	probably benign	0.13
IGL01474:Itga5	APN	15	103,262,697 (GRCm39)	nonsense	probably null
IGL01768:Itga5	APN	15	103,259,997 (GRCm39)	missense	probably benign	0.34
IGL01832:Itga5	APN	15	103,264,376 (GRCm39)	nonsense	probably null
IGL02188:Itga5	APN	15	103,256,144 (GRCm39)	missense	probably benign	0.30
IGL02701:Itga5	APN	15	103,256,193 (GRCm39)	missense	probably damaging	0.98
IGL02838:Itga5	APN	15	103,260,036 (GRCm39)	missense	probably damaging	1.00
IGL02955:Itga5	APN	15	103,259,261 (GRCm39)	missense	possibly damaging	0.48
R0617:Itga5	UTSW	15	103,264,742 (GRCm39)	critical splice donor site	probably null
R0845:Itga5	UTSW	15	103,259,196 (GRCm39)	missense	probably benign	0.07
R1210:Itga5	UTSW	15	103,265,900 (GRCm39)	missense	possibly damaging	0.76
R1522:Itga5	UTSW	15	103,265,209 (GRCm39)	nonsense	probably null
R1576:Itga5	UTSW	15	103,260,044 (GRCm39)	missense	probably damaging	0.96
R1666:Itga5	UTSW	15	103,256,329 (GRCm39)	missense	probably benign	0.00
R1808:Itga5	UTSW	15	103,258,826 (GRCm39)	missense	probably damaging	1.00
R1836:Itga5	UTSW	15	103,254,441 (GRCm39)	missense	probably damaging	1.00
R1964:Itga5	UTSW	15	103,262,741 (GRCm39)	missense	probably damaging	1.00
R4290:Itga5	UTSW	15	103,260,684 (GRCm39)	critical splice donor site	probably null
R4458:Itga5	UTSW	15	103,258,630 (GRCm39)	missense	probably damaging	1.00
R4610:Itga5	UTSW	15	103,259,259 (GRCm39)	missense	probably damaging	1.00
R4676:Itga5	UTSW	15	103,265,637 (GRCm39)	missense	probably damaging	1.00
R4795:Itga5	UTSW	15	103,256,187 (GRCm39)	missense	probably benign	0.05
R4796:Itga5	UTSW	15	103,256,187 (GRCm39)	missense	probably benign	0.05
R4837:Itga5	UTSW	15	103,262,511 (GRCm39)	missense	probably damaging	0.99
R4929:Itga5	UTSW	15	103,261,662 (GRCm39)	missense	probably benign	0.42
R5896:Itga5	UTSW	15	103,259,514 (GRCm39)	missense	probably benign
R5957:Itga5	UTSW	15	103,259,856 (GRCm39)	missense	probably benign	0.05
R6153:Itga5	UTSW	15	103,265,880 (GRCm39)	missense	probably damaging	1.00
R6353:Itga5	UTSW	15	103,260,950 (GRCm39)	missense	probably damaging	0.98
R6657:Itga5	UTSW	15	103,259,222 (GRCm39)	missense	probably damaging	1.00
R6698:Itga5	UTSW	15	103,259,808 (GRCm39)	missense	probably benign	0.15
R6891:Itga5	UTSW	15	103,265,970 (GRCm39)	missense	probably damaging	1.00
R6981:Itga5	UTSW	15	103,258,653 (GRCm39)	missense	probably benign	0.00
R7574:Itga5	UTSW	15	103,258,876 (GRCm39)	missense	probably damaging	1.00
R7762:Itga5	UTSW	15	103,258,184 (GRCm39)	missense	probably benign	0.01
R7813:Itga5	UTSW	15	103,265,741 (GRCm39)	critical splice acceptor site	probably null
R7984:Itga5	UTSW	15	103,264,379 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCGAGATCTGCTCTTGAGTG -3'
(R):5'- ATTTTGGCAGTGCAGCAGGG -3'

Sequencing Primer
(F):5'- GTGGCAGATGCATTTAATCCCAGC -3'
(R):5'- CAGCAGGGCAGGGCTAC -3'

Posted On

2017-03-31