Mutagenetix > Incidental Mutation

Incidental Mutation 'R9194:Itgb5'

697879

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33900511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 315 (D315G)

Ref Sequence

ENSEMBL: ENSMUSP00000069416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069345] [ENSMUST00000115028] [ENSMUST00000232262]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069345
AA Change: D315G

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

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: D315G

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: D315G

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

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: D315G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232262
AA Change: D2G

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

Coding Region Coverage

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

Validation Efficiency

94% (44/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,259,088	M1K	probably null	Het
Adra1b	A	T	11: 43,835,436	V218D	probably damaging	Het
Ank1	A	G	8: 23,116,239	S1216G	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cfap44	G	T	16: 44,468,461	D1525Y	probably damaging	Het
Chd8	A	T	14: 52,202,193	M2341K	probably benign	Het
Chst11	A	G	10: 83,191,485	T249A	probably damaging	Het
Cttnbp2	A	G	6: 18,434,851	V336A	probably benign	Het
Dennd3	T	C	15: 73,547,304	L648P	probably benign	Het
Dgcr14	A	T	16: 17,910,164	D79E	probably damaging	Het
Dhx16	T	C	17: 35,889,281	V864A	probably benign	Het
Enpp3	G	A	10: 24,799,194	H362Y	possibly damaging	Het
Fam83c	T	A	2: 155,829,379	Y712F	probably damaging	Het
Helz	C	T	11: 107,670,287	Q1392*	probably null	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Iqch	T	C	9: 63,572,679	H143R	probably benign	Het
Kcnmb2	A	G	3: 32,182,025	K141R	probably benign	Het
Lrrc37a	G	A	11: 103,500,850	P1250S	probably benign	Het
Mcm5	T	G	8: 75,110,334	V110G	probably damaging	Het
Med27	G	A	2: 29,471,300	D163N	probably damaging	Het
Mms22l	C	A	4: 24,600,185	Y1129*	probably null	Het
Mov10l1	G	A	15: 89,046,820	R1081H	probably damaging	Het
Mtpap	C	G	18: 4,380,833	N170K	probably benign	Het
Mtpap	C	T	18: 4,380,834	Q171*	probably null	Het
Myo6	T	A	9: 80,246,554	F271I	unknown	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nfatc1	C	T	18: 80,708,043	A26T	probably benign	Het
Olfr867	C	A	9: 20,055,247	C72F	probably damaging	Het
Piezo2	G	C	18: 63,117,744	T428S	probably benign	Het
Prkch	A	G	12: 73,721,842	E462G	probably damaging	Het
Rbm20	A	G	19: 53,834,700	Y576C	probably damaging	Het
Riok3	TTTCATT	TTT	18: 12,149,585		probably null	Het
Rpp40	C	T	13: 35,896,915	D302N	probably benign	Het
Sash1	A	G	10: 8,740,205	V631A	probably damaging	Het
Sstr2	A	G	11: 113,624,377	T41A	probably benign	Het
Thsd7b	T	A	1: 129,915,634	V861E	possibly damaging	Het
Tomm70a	A	G	16: 57,152,707	K603E	possibly damaging	Het
Tpd52l2	T	A	2: 181,499,890	M22K	possibly damaging	Het
Tpst1	T	A	5: 130,102,019	L110Q	possibly damaging	Het
Tram1l1	A	G	3: 124,321,488	Y99C	possibly damaging	Het
Ttc39b	A	G	4: 83,263,740	F81L	possibly damaging	Het
Ubr1	A	G	2: 120,947,844	Y238H	probably damaging	Het
Vmn1r202	G	T	13: 22,502,146	H34N	possibly damaging	Het
Vmn1r36	G	A	6: 66,716,052	Q280*	probably null	Het
Xpnpep1	A	T	19: 53,011,858	V187E	possibly damaging	Het
Zfp592	A	G	7: 81,024,601	I438V	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
R4879:Itgb5	UTSW	16	33875978	missense	probably damaging	1.00
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
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'- TAACGAATGTCCTTTCCTATAGCC -3'
(R):5'- ATGAGTCACGGATCAGACCAC -3'

Sequencing Primer
(F):5'- CCTTTCCTATAGCCTCTTAGATGAG -3'
(R):5'- CACACACTCACACATACTCTCG -3'

Posted On

2022-02-07