Mutagenetix > Incidental Mutation

Incidental Mutation 'R9683:Itgb5'

728712

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33919965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 482 (Y482N)

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: Y482N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: Y482N

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: Y482N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: Y482N

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: Y169N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,406,446	G499D	probably benign	Het
Acr	T	A	15: 89,573,237	Y229*	probably null	Het
Adam6b	G	T	12: 113,490,556	C331F	probably benign	Het
Ahnak	T	C	19: 9,007,355	V2001A	possibly damaging	Het
Ankrd11	C	T	8: 122,890,943	A2057T	probably benign	Het
Anln	A	T	9: 22,372,240	C432*	probably null	Het
Aox4	T	C	1: 58,239,303		probably null	Het
Astn1	A	G	1: 158,664,049	I1007V	possibly damaging	Het
Bicral	T	C	17: 46,812,018	D649G	possibly damaging	Het
C1qbp	G	A	11: 70,982,923	R10C	probably damaging	Het
Cass4	C	T	2: 172,426,736	P246L	probably damaging	Het
Celsr3	T	A	9: 108,827,323	V335E	probably damaging	Het
Cfap52	T	A	11: 67,931,813	T411S	probably benign	Het
Cnot6	A	T	11: 49,689,337	L43I	possibly damaging	Het
Col9a3	G	A	2: 180,606,529		probably null	Het
Dnah14	A	G	1: 181,598,944	R210G	probably benign	Het
Fat4	A	G	3: 38,889,183	S742G	possibly damaging	Het
Fbn2	C	T	18: 58,053,027	V1750M	probably benign	Het
Glrx2	A	G	1: 143,746,554	D96G	probably damaging	Het
Gm8369	T	C	19: 11,511,733	L128P	probably damaging	Het
Gpr155	A	G	2: 73,362,436	I585T	probably benign	Het
Heatr1	T	C	13: 12,434,259	S1907P	probably damaging	Het
Hscb	T	C	5: 110,836,015	T129A	possibly damaging	Het
Kmt5b	T	A	19: 3,815,587	*884R	probably null	Het
L3mbtl1	A	T	2: 162,970,308	T758S	possibly damaging	Het
Mindy1	A	T	3: 95,294,865	H351L	probably benign	Het
Mmel1	A	T	4: 154,892,828	I552F	probably damaging	Het
Mos	T	C	4: 3,871,186	D210G	probably benign	Het
Npl	A	C	1: 153,545,284	I16S	possibly damaging	Het
Nutm2	C	A	13: 50,474,981	P694T	possibly damaging	Het
Olfr376	G	A	11: 73,374,985	V82I	probably damaging	Het
Olfr608	A	G	7: 103,469,950		probably benign	Het
Plekhg4	T	C	8: 105,376,291	F261L	probably benign	Het
Ppfia3	T	A	7: 45,356,575	N331I	probably benign	Het
Ppp1r12a	T	A	10: 108,260,886	S712R	possibly damaging	Het
Psg20	T	A	7: 18,682,583	K203*	probably null	Het
Recql	C	T	6: 142,359,920	R234Q		Het
Rerg	A	G	6: 137,056,254	F160S	probably damaging	Het
Rp1l1	A	G	14: 64,031,677	K1571E	probably damaging	Het
Rsrc1	T	A	3: 67,349,995	S247T	probably damaging	Het
Sacs	T	A	14: 61,213,432	I4309N	possibly damaging	Het
Setd7	A	T	3: 51,542,690	I105N	possibly damaging	Het
Sgk1	AAGA	AAGAGA	10: 21,992,391		probably null	Het
Siglec1	T	A	2: 131,079,316	H645L	probably damaging	Het
Slain1	A	T	14: 103,688,185	D323V	probably damaging	Het
Slc25a10	A	G	11: 120,495,486	N139D	probably damaging	Het
Slc9a9	T	G	9: 94,670,182	F41V	probably damaging	Het
Spag9	A	C	11: 94,097,742	E879D	probably damaging	Het
Tdrd7	T	A	4: 46,025,946	L922Q	probably damaging	Het
Tiprl	A	G	1: 165,222,578	F156S	probably damaging	Het
Tmem185b	G	C	1: 119,527,018	V170L	probably damaging	Het
Top2a	G	A	11: 98,996,857	T1275I	probably benign	Het
Tpp1	A	G	7: 105,748,897	L353P	probably damaging	Het
Twnk	T	A	19: 45,010,183	H513Q	probably damaging	Het
Ubr5	C	T	15: 37,978,027	V2467I		Het
Vmn2r16	T	A	5: 109,363,811	I628N	probably damaging	Het
Zan	T	C	5: 137,464,514	E801G	unknown	Het
Zfp810	T	C	9: 22,278,503	R370G	possibly damaging	Het
Zfp955a	A	G	17: 33,242,613	S182P	probably benign	Het
Znrf3	T	C	11: 5,444,465	T72A	possibly 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
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
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'- CAGGCATCCTTTGAAGTGTCCG -3'
(R):5'- AAAAGCTGTCACACTCGCAG -3'

Sequencing Primer
(F):5'- CATCCTTTGAAGTGTCCGTGGAG -3'
(R):5'- GCAGAAAGGTCCGTAGATCCTC -3'

Posted On

2022-10-06