Mutagenetix > Incidental Mutation

Incidental Mutation 'R4879:Itgb5'

375167

Institutional Source

Beutler Lab

Gene Symbol

Itgb5

Ensembl Gene

ENSMUSG00000022817

Gene Name

integrin beta 5

Synonyms

ESTM23, [b]-5, beta-5, beta5, [b]5, [b]5A, [b]5B

MMRRC Submission

042488-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 33875978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 180 (G180R)

Ref Sequence

ENSEMBL: ENSMUSP00000110680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069345] [ENSMUST00000115028]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069345
AA Change: G180R

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

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: G180R

Domain	Start	End	E-Value	Type
PSI	27	76	1.4e-7	SMART
INB	35	463	1.18e-284	SMART
VWA	137	372	5.95e-7	SMART
internal_repeat_1	492	549	3.16e-7	PROSPERO
EGF	554	586	1.95e1	SMART
Integrin_B_tail	635	719	1.56e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115028
AA Change: G180R

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

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: G180R

Domain	Start	End	E-Value	Type
PSI	27	76	1.4e-7	SMART
INB	35	463	1.18e-284	SMART
VWA	137	372	5.95e-7	SMART
internal_repeat_1	492	549	3.16e-7	PROSPERO
EGF	554	586	1.95e1	SMART
Integrin_B_tail	635	719	1.56e-21	SMART
Integrin_b_cyt	743	790	5.97e-18	SMART

Meta Mutation Damage Score

0.9686

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (86/89)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation do not appear to differ from normal in respect to development, reproduction, adenovirus infection, or wound healing. Mutant keratinocytes do show reduced migration on, and adhesion to, vitronectin in vitro. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,219,700	Y541F	probably damaging	Het
Acot12	T	A	13: 91,762,964	V136E	probably benign	Het
Aftph	A	G	11: 20,698,311		probably null	Het
Ambra1	C	T	2: 91,772,694		probably benign	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ano9	T	C	7: 141,110,502	D73G	probably benign	Het
Asap3	G	A	4: 136,242,664	D778N	probably benign	Het
Atp8a2	G	T	14: 60,008,469	Y591*	probably null	Het
BC067074	T	C	13: 113,319,787	I789T	probably benign	Het
Blk	T	C	14: 63,375,965	T365A	probably benign	Het
C4b	G	T	17: 34,743,647	S27Y	probably damaging	Het
C6	G	T	15: 4,803,647		probably null	Het
Ccdc33	T	A	9: 58,067,556	I345F	possibly damaging	Het
Cetn3	T	A	13: 81,792,149		probably benign	Het
Cntn3	T	A	6: 102,267,428	I387L	possibly damaging	Het
Cog8	A	G	8: 107,056,352	C102R	probably damaging	Het
Cyp2c55	CA	C	19: 39,042,078		probably null	Het
Dmxl1	C	T	18: 49,889,467	A1624V	probably damaging	Het
Dnah1	T	G	14: 31,300,748	E1144A	possibly damaging	Het
Dnah12	T	A	14: 26,718,046		probably null	Het
Dnah2	G	A	11: 69,476,691	T1794I	probably damaging	Het
Erbin	A	T	13: 103,834,774	M778K	probably benign	Het
Fam189a2	T	C	19: 23,975,655		probably null	Het
Fbxw10	G	T	11: 62,847,747	A156S	probably damaging	Het
Flnc	T	A	6: 29,460,806	F2632Y	probably damaging	Het
Frmd4a	A	G	2: 4,529,817	K160E	probably damaging	Het
Glipr1l2	A	G	10: 112,107,124	K295E	probably benign	Het
Gm10651	T	C	7: 27,949,343		noncoding transcript	Het
Gm15292	T	A	8: 21,250,364	L62Q	probably damaging	Het
Gm7257	G	A	9: 36,432,793	C24Y	probably damaging	Het
Herc1	T	A	9: 66,462,837	C465*	probably null	Het
Hoxb4	A	G	11: 96,320,188	I205V	probably damaging	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Il1f6	A	G	2: 24,216,020	N29S	probably benign	Het
Ilk	A	G	7: 105,741,804	S292G	probably benign	Het
Kcnip4	T	C	5: 48,409,865	D120G	possibly damaging	Het
Kin	A	G	2: 10,080,644	D5G	probably benign	Het
Lrrtm2	C	A	18: 35,213,319	G310V	probably damaging	Het
Med1	T	C	11: 98,155,360		probably benign	Het
Mepce	C	A	5: 137,785,282		probably benign	Het
Nckipsd	T	A	9: 108,813,915		probably benign	Het
Notch3	T	A	17: 32,147,963	Q866L	probably benign	Het
Olfr1051	A	T	2: 86,275,763	C241*	probably null	Het
Olfr1157	A	T	2: 87,962,696	H65Q	possibly damaging	Het
Olfr547	A	T	7: 102,534,755	T3S	probably benign	Het
Orai1	T	C	5: 123,011,831		probably benign	Het
Pcdhb8	A	T	18: 37,356,166	E299V	probably damaging	Het
Pcnx4	G	A	12: 72,567,185	D635N	probably damaging	Het
Pex5	T	C	6: 124,398,363	I567V	probably benign	Het
Ppfibp2	T	C	7: 107,729,183	S485P	probably benign	Het
Pqlc2	A	T	4: 139,301,784		probably null	Het
Sbno1	T	C	5: 124,404,024	Y356C	probably damaging	Het
Sdcbp	T	C	4: 6,381,056	I67T	possibly damaging	Het
Slc5a7	A	G	17: 54,276,651	I537T	probably benign	Het
Smad4	A	G	18: 73,641,903	C442R	probably damaging	Het
Smpd5	A	G	15: 76,294,870	H146R	possibly damaging	Het
Snai2	A	G	16: 14,706,741	Y37C	probably benign	Het
Snapc4	C	T	2: 26,365,992	S840N	possibly damaging	Het
Stpg2	T	C	3: 139,215,373	I113T	probably benign	Het
Tbc1d32	T	C	10: 56,049,029		probably null	Het
Tfg	A	T	16: 56,701,157	S39R	probably damaging	Het
Thsd7b	T	A	1: 130,188,499	S1330T	possibly damaging	Het
Tnfaip3	T	C	10: 19,005,573	T322A	probably benign	Het
Tpra1	A	G	6: 88,911,709	Y291C	probably damaging	Het
Trcg1	A	G	9: 57,246,720	D658G	probably damaging	Het
Trip4	C	T	9: 65,875,022	V143I	probably benign	Het
Trp53bp1	T	C	2: 121,202,603	K1691E	probably damaging	Het
Ttc8	T	A	12: 98,942,303	M77K	possibly damaging	Het
Tubb2a	A	T	13: 34,074,589	M406K	probably benign	Het
Txnrd1	T	A	10: 82,881,917		probably null	Het
Ugt2a3	C	A	5: 87,331,285	R268L	probably benign	Het
Usp34	T	G	11: 23,373,410	M982R	possibly damaging	Het
Vmn2r43	T	A	7: 8,255,103	K370N	probably benign	Het
Vopp1	A	T	6: 57,762,370		probably benign	Het
Vps11	A	C	9: 44,353,300	C660G	probably benign	Het
Wnk1	T	C	6: 119,949,377	H1137R	probably damaging	Het
Wtap	A	G	17: 12,969,435	Y193H	probably damaging	Het
Zfp462	T	A	4: 55,009,444	V470D	probably benign	Het

Other mutations in Itgb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Itgb5	APN	16	33884975	missense	probably damaging	1.00
IGL01121:Itgb5	APN	16	33919989	missense	probably benign	0.00
IGL01620:Itgb5	APN	16	33919798	missense	probably damaging	1.00
IGL02332:Itgb5	APN	16	33920130	nonsense	probably null
IGL02869:Itgb5	APN	16	33844992	missense	possibly damaging	0.94
IGL02881:Itgb5	APN	16	33919905	missense	probably benign	0.00
IGL02941:Itgb5	APN	16	33944095	splice site	probably benign
IGL03216:Itgb5	APN	16	33902838	missense	probably benign	0.38
IGL03351:Itgb5	APN	16	33910552	missense	probably benign	0.00
PIT4812001:Itgb5	UTSW	16	33919987	missense	probably damaging	1.00
R0744:Itgb5	UTSW	16	33900583	missense	probably damaging	0.99
R0829:Itgb5	UTSW	16	33944201	missense	probably benign	0.29
R0836:Itgb5	UTSW	16	33900583	missense	probably damaging	0.99
R1387:Itgb5	UTSW	16	33900515	nonsense	probably null
R1703:Itgb5	UTSW	16	33910500	missense	probably benign	0.01
R1783:Itgb5	UTSW	16	33940562	missense	probably benign	0.13
R1826:Itgb5	UTSW	16	33865560	missense	possibly damaging	0.48
R1889:Itgb5	UTSW	16	33910469	missense	probably damaging	1.00
R2374:Itgb5	UTSW	16	33919798	missense	probably damaging	1.00
R4307:Itgb5	UTSW	16	33948732	missense	possibly damaging	0.80
R4355:Itgb5	UTSW	16	33844997	missense	probably damaging	0.98
R4796:Itgb5	UTSW	16	33885021	missense	possibly damaging	0.83
R6165:Itgb5	UTSW	16	33899242	missense	probably benign	0.01
R6584:Itgb5	UTSW	16	33885030	missense	probably damaging	1.00
R6617:Itgb5	UTSW	16	33946592	missense	probably benign	0.01
R6748:Itgb5	UTSW	16	33899297	missense	probably damaging	1.00
R6979:Itgb5	UTSW	16	33919986	missense	probably damaging	1.00
R7090:Itgb5	UTSW	16	33885094	missense	probably damaging	1.00
R7150:Itgb5	UTSW	16	33940643	missense	probably benign	0.03
R7403:Itgb5	UTSW	16	33902793	critical splice acceptor site	probably null
R7418:Itgb5	UTSW	16	33885094	missense	probably damaging	1.00
R7719:Itgb5	UTSW	16	33920116	missense	probably benign	0.01
R8309:Itgb5	UTSW	16	33865553	missense	probably benign	0.00
R8347:Itgb5	UTSW	16	33940678	missense	probably damaging	1.00
R8856:Itgb5	UTSW	16	33900592	missense	probably damaging	1.00
R9100:Itgb5	UTSW	16	33920181	missense	possibly damaging	0.91
R9194:Itgb5	UTSW	16	33900511	missense	probably damaging	1.00
R9309:Itgb5	UTSW	16	33920046	missense	probably benign	0.00
R9343:Itgb5	UTSW	16	33910456	splice site	probably benign
R9629:Itgb5	UTSW	16	33875925	missense	probably damaging	1.00
R9683:Itgb5	UTSW	16	33919965	missense	probably damaging	0.97
R9710:Itgb5	UTSW	16	33865547	missense	probably benign	0.00
X0022:Itgb5	UTSW	16	33845050	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGCAGACTACGTTCCAGCTG -3'
(R):5'- TTCACTTTGTCACATGTAGGGC -3'

Sequencing Primer
(F):5'- ACTACGTTCCAGCTGCAGGTG -3'
(R):5'- GTGGCCATCACGAATCATTAAATAC -3'

Posted On

2016-03-17