Mutagenetix > Incidental Mutations

Incidental Mutation 'R7719:Itgb5'

595143

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 #

R7719 (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 33920116 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 532 (Q532R)

Ref Sequence

ENSEMBL: ENSMUSP00000069416 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069345
AA Change: Q532R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: Q532R

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 benign
Transcript: ENSMUST00000115028
AA Change: Q532R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: Q532R

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 benign
Transcript: ENSMUST00000232262
AA Change: Q219R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

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

Validation Efficiency

99% (67/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,355	I633T	probably benign	Het
Acbd6	T	A	1: 155,687,012	L253H	probably damaging	Het
Adam11	T	C	11: 102,772,477	V238A	probably benign	Het
Amer3	A	T	1: 34,589,002	H774L	possibly damaging	Het
Anapc15	T	C	7: 101,901,029	L150P	unknown	Het
Ano8	G	T	8: 71,483,140	T278K	possibly damaging	Het
Atg16l2	T	C	7: 101,289,867	K618E	probably damaging	Het
Casz1	C	T	4: 148,944,524	S1142L	probably damaging	Het
Ccdc30	T	A	4: 119,333,616	E471D	probably damaging	Het
Cks1b	T	C	3: 89,416,328	N45D	probably benign	Het
Clasrp	T	C	7: 19,587,844	T296A	probably damaging	Het
Cluap1	C	T	16: 3,909,603		probably null	Het
Cntn5	T	A	9: 9,704,898	D632V	probably damaging	Het
Cntnap3	G	A	13: 64,772,777	Q593*	probably null	Het
Col18a1	A	T	10: 77,078,012	I457K	probably benign	Het
Crybb3	G	T	5: 113,075,968	Q192K	probably damaging	Het
Cyb561d2	C	T	9: 107,540,184	A123T	probably benign	Het
Cyp2b13	C	T	7: 26,095,670	A442V	probably damaging	Het
Cyp2j9	G	A	4: 96,568,842	T464I	probably benign	Het
Cyp4a29	G	A	4: 115,250,940	G320R	possibly damaging	Het
Dbp	T	C	7: 45,709,750	I283T	probably damaging	Het
Efcab3	T	C	11: 105,111,848	I303T	probably benign	Het
Efcab8	T	A	2: 153,787,745	V166D		Het
Efhc1	A	T	1: 20,979,520	I535F	probably benign	Het
Epb41l3	A	G	17: 69,253,414	I319V	possibly damaging	Het
Ewsr1	T	C	11: 5,085,900	T193A	unknown	Het
Fam227a	T	C	15: 79,620,712	N510S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,841	C1221R	possibly damaging	Het
Gm6741	A	C	17: 91,237,044	E78D	probably benign	Het
Gpam	C	T	19: 55,081,670	V385I	probably damaging	Het
Gpr55	A	G	1: 85,941,337	V174A	probably benign	Het
Gsdmc	T	C	15: 63,778,964		probably null	Het
Hmcn1	T	A	1: 150,565,329	D5509V	possibly damaging	Het
Hoxc13	A	T	15: 102,921,858	Q224L	possibly damaging	Het
Hunk	A	G	16: 90,496,666	D612G	probably benign	Het
Igsf3	G	A	3: 101,435,541	R478H	probably damaging	Het
Jph1	T	C	1: 17,091,991	Y149C	probably damaging	Het
Lztfl1	T	C	9: 123,715,330	D33G	probably null	Het
Mex3c	G	T	18: 73,589,990	A385S	possibly damaging	Het
Myo5a	T	A	9: 75,144,084	S320T	probably benign	Het
Nsun4	A	T	4: 116,052,420	N314K	possibly damaging	Het
Olfr1271	A	T	2: 90,266,259	M57K	probably damaging	Het
Omg	T	A	11: 79,502,233	E266D	probably benign	Het
Paqr9	T	A	9: 95,560,776	V273E	possibly damaging	Het
Phkg1	G	A	5: 129,873,858		probably benign	Het
Plekhm3	T	C	1: 64,921,742	K452E	probably benign	Het
Plpbp	T	A	8: 27,045,946	I86N		Het
Prl2c1	G	T	13: 27,851,797	A51S	probably damaging	Het
Prmt8	A	T	6: 127,729,503	H108Q	probably damaging	Het
Prrc2b	T	A	2: 32,217,268	C1614*	probably null	Het
Ptpdc1	A	G	13: 48,586,290	V555A	probably benign	Het
Rassf9	A	G	10: 102,545,600	D281G	probably benign	Het
Rmnd1	T	C	10: 4,427,496	D61G	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Ryr2	A	G	13: 11,730,343	S2055P	possibly damaging	Het
Six5	G	A	7: 19,096,878	A477T	probably damaging	Het
Speg	A	G	1: 75,375,825	E129G	probably damaging	Het
Stard10	C	T	7: 101,346,113	A78V	not run	Het
Stard3	T	C	11: 98,375,676	V127A	probably benign	Het
Svep1	G	A	4: 58,068,523	P3088S	probably damaging	Het
Tbck	A	G	3: 132,734,728	D508G	probably damaging	Het
Tgm2	T	A	2: 158,143,118	T23S	probably damaging	Het
Ttll10	G	T	4: 156,047,208		probably null	Het
Vcan	A	T	13: 89,704,619	S741T	probably damaging	Het
Vmn2r13	T	C	5: 109,171,752	N454S	probably benign	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Wnt8a	T	C	18: 34,547,535	W318R	probably damaging	Het
Zer1	A	T	2: 30,111,231	L87H	probably damaging	Het
Zfp518a	T	A	19: 40,912,768	N380K	probably benign	Het
Zfp90	T	C	8: 106,419,093	V19A	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	probably damaging	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
R8309:Itgb5	UTSW	16	33865553	missense	probably benign	0.00
R8347:Itgb5	UTSW	16	33940678	missense	probably damaging	1.00
X0022:Itgb5	UTSW	16	33845050	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ATTGCACATGCGGCTGTAG -3'
(R):5'- AGCATCCTGAGAAAGCCAGG -3'

Sequencing Primer
(F):5'- GAGCCCAACAGTGCCAGATG -3'
(R):5'- CAGGGTCTGGGTCCACATAATATC -3'

Posted On

2019-11-12