Mutagenetix > Incidental Mutation

Incidental Mutation 'R8856:Itgb5'

675374

Institutional Source

Beutler Lab

Gene Symbol

Itgb5

Ensembl Gene

ENSMUSG00000022817

Gene Name

integrin beta 5

Synonyms

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

MMRRC Submission

068737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33650035-33769708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33720962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 342 (Y342C)

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: Y342C

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

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: Y342C

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: Y342C

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

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: Y342C

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: Y29C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,618,349 (GRCm39)	R214H	probably benign	Het
Abca4	A	G	3: 121,906,096 (GRCm39)	S822G	probably benign	Het
Adgrv1	T	A	13: 81,707,621 (GRCm39)	I1262F	probably benign	Het
Agbl2	A	G	2: 90,632,088 (GRCm39)	D482G	probably damaging	Het
Asph	T	A	4: 9,630,947 (GRCm39)	T134S	possibly damaging	Het
Cacna1a	C	T	8: 85,286,070 (GRCm39)	A905V	probably benign	Het
Cacna1b	C	T	2: 24,569,530 (GRCm39)	R798H	probably benign	Het
Cpne8	G	T	15: 90,486,044 (GRCm39)	Q140K	probably benign	Het
Crocc2	A	T	1: 93,120,847 (GRCm39)	N538I	probably benign	Het
Cyp2j9	T	A	4: 96,462,184 (GRCm39)	I366F	probably damaging	Het
Dchs1	A	T	7: 105,410,064 (GRCm39)	D1769E	probably damaging	Het
Def6	A	T	17: 28,435,972 (GRCm39)	I44F	probably damaging	Het
Dnah7a	G	A	1: 53,462,422 (GRCm39)	T3723M	probably damaging	Het
Ecd	T	A	14: 20,387,140 (GRCm39)	Y198F	probably damaging	Het
Ecel1	A	C	1: 87,079,760 (GRCm39)	M451R	probably damaging	Het
Eea1	A	G	10: 95,831,506 (GRCm39)	D199G	probably benign	Het
Efna5	A	T	17: 62,914,374 (GRCm39)	I217N	unknown	Het
F13a1	A	T	13: 37,100,859 (GRCm39)	D428E	probably damaging	Het
Fads1	T	G	19: 10,170,276 (GRCm39)	I272S	probably benign	Het
Fam149a	C	T	8: 45,834,611 (GRCm39)	A63T		Het
Fam83a	A	T	15: 57,872,977 (GRCm39)	N269Y	probably damaging	Het
Fasn	G	A	11: 120,708,979 (GRCm39)	T568I	possibly damaging	Het
Fbn1	A	G	2: 125,156,637 (GRCm39)	S2363P	probably damaging	Het
Fbxl4	T	A	4: 22,390,803 (GRCm39)	W329R	probably damaging	Het
Fgf12	A	T	16: 28,008,233 (GRCm39)	V189E	probably damaging	Het
Frmd4b	A	T	6: 97,269,359 (GRCm39)	Y984*	probably null	Het
Galm	A	G	17: 80,490,661 (GRCm39)	T273A	possibly damaging	Het
Gm43302	A	G	5: 105,438,739 (GRCm39)	S50P	probably damaging	Het
Gm45861	C	T	8: 28,010,788 (GRCm39)	S561L	unknown	Het
Gnao1	A	G	8: 94,538,045 (GRCm39)	I28V	probably benign	Het
Golga4	A	G	9: 118,385,779 (GRCm39)	N967S	probably damaging	Het
Gpr155	A	T	2: 73,203,993 (GRCm39)	F274I	probably benign	Het
Grm1	A	C	10: 10,595,092 (GRCm39)	N845K	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,443,120 (GRCm39)		probably null	Het
Hsf4	G	T	8: 105,996,628 (GRCm39)	D18Y	probably null	Het
Htt	T	A	5: 35,060,675 (GRCm39)	D2774E	probably benign	Het
Iars2	A	G	1: 185,028,621 (GRCm39)	I679T	probably benign	Het
Irf4	T	C	13: 30,945,414 (GRCm39)	F387L	probably damaging	Het
Kcnmb4	A	G	10: 116,282,299 (GRCm39)	W133R	possibly damaging	Het
Ldhc	A	T	7: 46,525,999 (GRCm39)	H271L	probably benign	Het
Lmtk2	C	A	5: 144,113,079 (GRCm39)	D1266E	probably damaging	Het
Lrrtm1	C	A	6: 77,221,807 (GRCm39)	N421K	possibly damaging	Het
Ly9	G	A	1: 171,432,587 (GRCm39)	T142I	probably benign	Het
Manba	A	G	3: 135,223,764 (GRCm39)	Y217C	probably damaging	Het
Mapkbp1	T	C	2: 119,845,109 (GRCm39)	L330P	probably damaging	Het
Marchf2	A	T	17: 33,915,165 (GRCm39)	V143E	probably benign	Het
Mmel1	A	T	4: 154,969,478 (GRCm39)	D191V	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,583 (GRCm39)	I32N	probably benign	Het
Mroh2b	C	T	15: 4,960,510 (GRCm39)	Q748*	probably null	Het
Mrpl34	T	G	8: 71,918,024 (GRCm39)	W66G	probably damaging	Het
Muc21	T	C	17: 35,931,865 (GRCm39)	T774A	unknown	Het
Nde1	T	A	16: 14,001,446 (GRCm39)	S165T		Het
Nek10	T	G	14: 14,937,610 (GRCm38)	I776M	probably damaging	Het
Nell2	A	G	15: 95,281,552 (GRCm39)	S385P	probably damaging	Het
Nsf	A	T	11: 103,821,568 (GRCm39)	F29Y	possibly damaging	Het
Nsmaf	A	T	4: 6,433,320 (GRCm39)	Y133*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or14j8	A	T	17: 38,263,091 (GRCm39)	S275T	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,776 (GRCm39)	I485V	probably benign	Het
Poteg	T	A	8: 27,938,033 (GRCm39)	M1K	probably null	Het
Pramel24	A	T	4: 143,453,303 (GRCm39)	N137I	probably benign	Het
Prdm5	G	A	6: 65,860,569 (GRCm39)	V418I	possibly damaging	Het
Psmc6	T	A	14: 45,578,320 (GRCm39)	C228S	probably damaging	Het
Ptgfrn	C	T	3: 100,963,927 (GRCm39)	A562T	possibly damaging	Het
Ralgapa2	G	T	2: 146,184,139 (GRCm39)	Q1576K	probably benign	Het
Ranbp9	C	T	13: 43,567,506 (GRCm39)	G400D	probably damaging	Het
Rgs11	A	T	17: 26,423,484 (GRCm39)	I134F	probably damaging	Het
Rnf150	T	A	8: 83,762,715 (GRCm39)	C317S	probably damaging	Het
Rrm2b	G	A	15: 37,960,858 (GRCm39)		probably benign	Het
Scai	T	C	2: 38,996,978 (GRCm39)	Q272R	probably benign	Het
Sec62	C	T	3: 30,847,506 (GRCm39)	R4C	possibly damaging	Het
Sgo2b	C	A	8: 64,393,091 (GRCm39)	L115F	probably null	Het
Slc44a3	G	A	3: 121,307,456 (GRCm39)	P177S	probably damaging	Het
Slc45a4	G	A	15: 73,457,966 (GRCm39)	L528F	probably damaging	Het
Slco1a1	G	T	6: 141,857,624 (GRCm39)	A569D	probably damaging	Het
Stam2	G	T	2: 52,604,984 (GRCm39)	Q184K	probably damaging	Het
Tada2b	A	T	5: 36,641,166 (GRCm39)	L79Q	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tecta	A	T	9: 42,284,597 (GRCm39)	D829E	probably benign	Het
Tepsin	A	G	11: 119,982,654 (GRCm39)	V472A	probably benign	Het
Tnfrsf1a	G	A	6: 125,334,688 (GRCm39)	M109I	possibly damaging	Het
Trim42	A	T	9: 97,245,275 (GRCm39)	Y508*	probably null	Het
Trmo	T	G	4: 46,387,625 (GRCm39)	N65T	probably benign	Het
Tspear	G	T	10: 77,665,471 (GRCm39)	E86*	probably null	Het
Ubr1	A	T	2: 120,734,523 (GRCm39)	S1126T	probably damaging	Het
Usp50	C	A	2: 126,622,477 (GRCm39)	D28Y	probably damaging	Het
Utp6	T	A	11: 79,842,455 (GRCm39)	I225F	probably benign	Het
Utrn	T	C	10: 12,543,351 (GRCm39)	T1766A	probably benign	Het
Vcl	T	A	14: 21,045,160 (GRCm39)	N288K	probably benign	Het
Vmn2r69	T	C	7: 85,061,663 (GRCm39)	N104D	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfhx4	T	A	3: 5,455,484 (GRCm39)	S1159R	probably benign	Het

Other mutations in Itgb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Itgb5	APN	16	33,705,345 (GRCm39)	missense	probably damaging	1.00
IGL01121:Itgb5	APN	16	33,740,359 (GRCm39)	missense	probably benign	0.00
IGL01620:Itgb5	APN	16	33,740,168 (GRCm39)	missense	probably damaging	1.00
IGL02332:Itgb5	APN	16	33,740,500 (GRCm39)	nonsense	probably null
IGL02869:Itgb5	APN	16	33,665,362 (GRCm39)	missense	possibly damaging	0.94
IGL02881:Itgb5	APN	16	33,740,275 (GRCm39)	missense	probably benign	0.00
IGL02941:Itgb5	APN	16	33,764,465 (GRCm39)	splice site	probably benign
IGL03216:Itgb5	APN	16	33,723,208 (GRCm39)	missense	probably benign	0.38
IGL03351:Itgb5	APN	16	33,730,922 (GRCm39)	missense	probably benign	0.00
PIT4812001:Itgb5	UTSW	16	33,740,357 (GRCm39)	missense	probably damaging	1.00
R0744:Itgb5	UTSW	16	33,720,953 (GRCm39)	missense	probably damaging	0.99
R0829:Itgb5	UTSW	16	33,764,571 (GRCm39)	missense	probably benign	0.29
R0836:Itgb5	UTSW	16	33,720,953 (GRCm39)	missense	probably damaging	0.99
R1387:Itgb5	UTSW	16	33,720,885 (GRCm39)	nonsense	probably null
R1703:Itgb5	UTSW	16	33,730,870 (GRCm39)	missense	probably benign	0.01
R1783:Itgb5	UTSW	16	33,760,932 (GRCm39)	missense	probably benign	0.13
R1826:Itgb5	UTSW	16	33,685,930 (GRCm39)	missense	possibly damaging	0.48
R1889:Itgb5	UTSW	16	33,730,839 (GRCm39)	missense	probably damaging	1.00
R2374:Itgb5	UTSW	16	33,740,168 (GRCm39)	missense	probably damaging	1.00
R4307:Itgb5	UTSW	16	33,769,102 (GRCm39)	missense	possibly damaging	0.80
R4355:Itgb5	UTSW	16	33,665,367 (GRCm39)	missense	probably damaging	0.98
R4796:Itgb5	UTSW	16	33,705,391 (GRCm39)	missense	possibly damaging	0.83
R4879:Itgb5	UTSW	16	33,696,348 (GRCm39)	missense	probably damaging	1.00
R6165:Itgb5	UTSW	16	33,719,612 (GRCm39)	missense	probably benign	0.01
R6584:Itgb5	UTSW	16	33,705,400 (GRCm39)	missense	probably damaging	1.00
R6617:Itgb5	UTSW	16	33,766,962 (GRCm39)	missense	probably benign	0.01
R6748:Itgb5	UTSW	16	33,719,667 (GRCm39)	missense	probably damaging	1.00
R6979:Itgb5	UTSW	16	33,740,356 (GRCm39)	missense	probably damaging	1.00
R7090:Itgb5	UTSW	16	33,705,464 (GRCm39)	missense	probably damaging	1.00
R7150:Itgb5	UTSW	16	33,761,013 (GRCm39)	missense	probably benign	0.03
R7403:Itgb5	UTSW	16	33,723,163 (GRCm39)	critical splice acceptor site	probably null
R7418:Itgb5	UTSW	16	33,705,464 (GRCm39)	missense	probably damaging	1.00
R7719:Itgb5	UTSW	16	33,740,486 (GRCm39)	missense	probably benign	0.01
R8309:Itgb5	UTSW	16	33,685,923 (GRCm39)	missense	probably benign	0.00
R8347:Itgb5	UTSW	16	33,761,048 (GRCm39)	missense	probably damaging	1.00
R9100:Itgb5	UTSW	16	33,740,551 (GRCm39)	missense	possibly damaging	0.91
R9194:Itgb5	UTSW	16	33,720,881 (GRCm39)	missense	probably damaging	1.00
R9309:Itgb5	UTSW	16	33,740,416 (GRCm39)	missense	probably benign	0.00
R9343:Itgb5	UTSW	16	33,730,826 (GRCm39)	splice site	probably benign
R9629:Itgb5	UTSW	16	33,696,295 (GRCm39)	missense	probably damaging	1.00
R9683:Itgb5	UTSW	16	33,740,335 (GRCm39)	missense	probably damaging	0.97
R9710:Itgb5	UTSW	16	33,685,917 (GRCm39)	missense	probably benign	0.00
X0022:Itgb5	UTSW	16	33,665,420 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ATTAGGCCCTTGGTTGACGG -3'
(R):5'- TTTAGGTCAAAATGAGTCACGGATC -3'

Sequencing Primer
(F):5'- GGTACCCAGGAGAAAGATGC -3'
(R):5'- TGAGTCACGGATCAGACCAC -3'

Posted On

2021-07-15