Mutagenetix > Incidental Mutation

Incidental Mutation 'R1703:Itgb5'

189927

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

039736-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33910500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 388 (D388E)

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 benign
Transcript: ENSMUST00000069345
AA Change: D388E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: D388E

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: D388E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: D388E

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

noncoding transcript
Transcript: ENSMUST00000134262

Predicted Effect

probably benign
Transcript: ENSMUST00000232262
AA Change: D75E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0769

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

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
2310057M21Rik	A	T	7: 131,343,702	Y401*	probably null	Het
4932415M13Rik	C	A	17: 53,725,037		noncoding transcript	Het
Acoxl	T	A	2: 127,978,772	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,677,614	C915R	probably damaging	Het
Adgra3	C	T	5: 50,006,775	M287I	probably benign	Het
Afg1l	T	G	10: 42,400,399	D250A	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Amfr	T	C	8: 93,974,243	T530A	probably benign	Het
Ank2	C	T	3: 126,929,766	V971M	probably damaging	Het
App	A	G	16: 84,965,768	S656P	probably damaging	Het
Arid5a	T	A	1: 36,319,575		probably null	Het
Asic5	T	A	3: 81,999,722	V60D	possibly damaging	Het
Atm	G	T	9: 53,500,700	H1019N	probably benign	Het
Btbd11	A	G	10: 85,387,384	D19G	unknown	Het
Cep250	A	G	2: 155,965,546	K277R	probably benign	Het
Chrna7	C	T	7: 63,099,507	R409H	probably damaging	Het
Chrng	A	T	1: 87,210,906	N419I	possibly damaging	Het
Ciao1	T	C	2: 127,245,819	S199G	probably benign	Het
Clstn2	A	T	9: 97,458,237	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,233,838		probably benign	Het
Cyp2c69	T	A	19: 39,876,366	I223F	probably benign	Het
Dennd1b	A	T	1: 139,169,754		probably null	Het
Dnah17	A	T	11: 118,026,749	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,323,451	M506V	probably benign	Het
Ecsit	A	G	9: 22,074,811	V173A	probably damaging	Het
Fam13b	T	C	18: 34,451,439		probably null	Het
Fgl2	T	A	5: 21,372,732	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,619,172	R503H	probably damaging	Het
Gm884	C	T	11: 103,540,874	V1372I	probably benign	Het
Gramd1a	C	T	7: 31,139,534	V247M	possibly damaging	Het
Grip2	A	T	6: 91,777,398	I632N	probably damaging	Het
Hspg2	T	C	4: 137,559,151	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,789,892	Y660C	probably benign	Het
Isg15	T	C	4: 156,199,808	R88G	possibly damaging	Het
Jhy	T	C	9: 40,944,837	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,205,326	T931M	probably damaging	Het
Kif21a	A	G	15: 90,949,047		probably null	Het
Lama2	A	T	10: 27,266,671	Y604N	probably damaging	Het
Lrp3	T	G	7: 35,213,161	S34R	possibly damaging	Het
Lyn	T	C	4: 3,738,867		probably null	Het
Mroh8	C	T	2: 157,271,976	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,148,093	F977L	probably damaging	Het
Nol8	C	T	13: 49,667,457	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,208,417	N169K	probably damaging	Het
Olfr1118	T	C	2: 87,309,410	V207A	probably benign	Het
Olfr1188	T	A	2: 88,560,255	M262K	possibly damaging	Het
Oplah	A	G	15: 76,296,667	Y1279H	probably benign	Het
Pcsk5	T	C	19: 17,752,094	N129S	probably benign	Het
Pcyt2	G	T	11: 120,613,068	P185T	probably benign	Het
Pdlim2	A	G	14: 70,174,335		probably null	Het
Pgs1	T	C	11: 118,014,728		probably benign	Het
Qprt	A	G	7: 127,108,171	V251A	probably benign	Het
Rasal2	A	C	1: 157,157,600	L834R	probably damaging	Het
Reg1	T	C	6: 78,428,449	C161R	probably damaging	Het
Rp1	T	A	1: 4,345,169	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,244,050	D360G	possibly damaging	Het
Sart3	C	A	5: 113,752,219	V482F	probably benign	Het
Scarf2	A	G	16: 17,802,849	E127G	probably damaging	Het
Serinc5	T	C	13: 92,688,797	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,993,517	R57L	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sgca	A	T	11: 94,969,391	L307M	probably damaging	Het
Slc7a9	C	A	7: 35,454,575	Q208K	probably benign	Het
Slfn10-ps	C	T	11: 83,030,043		noncoding transcript	Het
Spam1	A	T	6: 24,796,257	D69V	probably damaging	Het
Tanc1	A	G	2: 59,843,021	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,239,215	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tlx1	A	G	19: 45,156,004	D55G	possibly damaging	Het
Tram2	G	T	1: 21,004,234	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,658	Y325C	probably damaging	Het
Ubac2	T	A	14: 121,905,170	S27T	probably benign	Het
Utrn	G	A	10: 12,727,729		probably benign	Het
Vnn3	A	T	10: 23,865,930	M378L	probably benign	Het
Vps18	T	A	2: 119,289,057	D6E	probably benign	Het
Xkr5	T	A	8: 18,939,118	I253F	probably benign	Het
Yeats4	A	T	10: 117,215,723	C210S	probably benign	Het
Zdhhc20	A	G	14: 57,839,088		probably null	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
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
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'- TGGGAAGCCTCCTGTCTCTAACTTG -3'
(R):5'- CATTCTGGACTAGAAGGCAGAGCAC -3'

Sequencing Primer
(F):5'- TTGGCTTGAACCTCCTGAG -3'
(R):5'- TCCAGGGAGCTACAAAATTGTC -3'

Posted On

2014-05-14