Mutagenetix > Incidental Mutation

Incidental Mutation 'R8347:Itgb5'

645330

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

067867-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33650035-33769708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33761048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 628 (C628R)

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: C628R

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

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: C628R

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: C628R

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

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: C628R

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: C315R

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	A	5: 138,561,153 (GRCm39)	I170L	probably benign	Het
Adamts15	C	T	9: 30,813,846 (GRCm39)	R773Q	probably benign	Het
Ankib1	A	G	5: 3,797,065 (GRCm39)	L249P	probably damaging	Het
Cabin1	A	G	10: 75,578,201 (GRCm39)	F499L	probably damaging	Het
Cdhr17	G	A	5: 17,006,572 (GRCm39)	M96I	probably benign	Het
Clec12b	C	T	6: 129,357,450 (GRCm39)		probably null	Het
Col23a1	G	A	11: 51,462,083 (GRCm39)	G373D	probably damaging	Het
Cse1l	C	T	2: 166,769,505 (GRCm39)	T304I	possibly damaging	Het
D6Wsu163e	T	A	6: 126,932,251 (GRCm39)	L330*	probably null	Het
Dbi	A	C	1: 120,048,550 (GRCm39)	L32R	possibly damaging	Het
Dennd2c	A	G	3: 103,065,025 (GRCm39)	Y716C	probably damaging	Het
Dnah5	G	A	15: 28,236,812 (GRCm39)	M379I	possibly damaging	Het
Dpys	T	C	15: 39,720,709 (GRCm39)	D17G	probably benign	Het
Dync2h1	C	T	9: 7,116,578 (GRCm39)	S2319N	possibly damaging	Het
Dyrk2	T	C	10: 118,695,888 (GRCm39)	K457E	probably damaging	Het
Efs	A	G	14: 55,157,241 (GRCm39)	C357R	probably benign	Het
Egfr	T	A	11: 16,828,174 (GRCm39)	W516R	probably damaging	Het
Folh1	T	A	7: 86,378,326 (GRCm39)	R529*	probably null	Het
Fsip2	A	C	2: 82,818,198 (GRCm39)	I4644L	probably benign	Het
Garnl3	T	C	2: 32,975,903 (GRCm39)	Y66C	probably damaging	Het
Gli3	T	C	13: 15,898,110 (GRCm39)	L730P	probably damaging	Het
Gm19668	T	C	10: 77,634,221 (GRCm39)	*249W	probably null	Het
Ighv2-6-8	T	C	12: 113,759,947 (GRCm39)	D54G	probably benign	Het
Irs2	C	A	8: 11,058,000 (GRCm39)	S144I	possibly damaging	Het
Kcnh4	A	T	11: 100,648,575 (GRCm39)	V43D	probably damaging	Het
Krtap16-3	A	T	16: 88,759,507 (GRCm39)	Y69N	unknown	Het
Lcn12	A	C	2: 25,382,045 (GRCm39)	D176E	possibly damaging	Het
Lilrb4b	T	A	10: 51,357,850 (GRCm39)	F181L	probably damaging	Het
Med13l	T	A	5: 118,880,662 (GRCm39)	H1251Q	probably benign	Het
Nppb	C	A	4: 148,070,756 (GRCm39)	L44M	probably damaging	Het
Nutm2	T	C	13: 50,626,373 (GRCm39)	V320A	probably benign	Het
Or4b1b	A	T	2: 90,112,020 (GRCm39)	W300R	probably benign	Het
Or52a24	A	G	7: 103,381,150 (GRCm39)	S6G	probably benign	Het
Or5ae2	C	T	7: 84,505,963 (GRCm39)	P131S	probably damaging	Het
Or5ak4	T	A	2: 85,162,047 (GRCm39)	H65L	probably damaging	Het
Padi6	T	C	4: 140,462,719 (GRCm39)	M301V	probably benign	Het
Pappa	G	A	4: 65,245,302 (GRCm39)	R1530Q	probably damaging	Het
Pcgf6	C	T	19: 47,034,277 (GRCm39)	D255N	possibly damaging	Het
Pgap3	TCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAG	11: 98,281,575 (GRCm39)		probably benign	Het
Phip	A	G	9: 82,790,816 (GRCm39)	I710T	probably benign	Het
Pla2r1	A	T	2: 60,365,247 (GRCm39)	Y108N	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Rint1	C	G	5: 24,016,770 (GRCm39)	L512V	probably damaging	Het
Sdad1	A	C	5: 92,446,088 (GRCm39)	F282L	probably benign	Het
Sirt5	G	T	13: 43,533,977 (GRCm39)	A189S	probably benign	Het
Slc14a1	T	C	18: 78,154,646 (GRCm39)	T247A	probably benign	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
Slfn3	A	G	11: 83,104,415 (GRCm39)	K429E	possibly damaging	Het
Spag17	T	C	3: 99,934,957 (GRCm39)	F721S	probably benign	Het
Spata31d1e	T	A	13: 59,890,050 (GRCm39)	D590V	possibly damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Sult2a6	A	G	7: 13,959,883 (GRCm39)	Y217H	probably benign	Het
Synj2	A	G	17: 6,060,060 (GRCm39)	N394S	probably damaging	Het
Telo2	A	T	17: 25,323,611 (GRCm39)	Y605*	probably null	Het
Trank1	T	A	9: 111,196,317 (GRCm39)	L1447Q	probably damaging	Het
Trim56	A	G	5: 137,141,446 (GRCm39)	L690P	probably damaging	Het
Trmt13	T	C	3: 116,376,417 (GRCm39)	T325A	probably benign	Het
Ttn	T	A	2: 76,539,811 (GRCm39)	T34392S	probably benign	Het
Uncx	A	G	5: 139,532,571 (GRCm39)	E212G	probably damaging	Het
Ush2a	A	G	1: 188,679,281 (GRCm39)	T4830A	probably benign	Het
Usp34	C	A	11: 23,362,345 (GRCm39)	T1616N		Het
Vars1	C	T	17: 35,234,953 (GRCm39)	L1261F	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,020 (GRCm39)	S205P	probably damaging	Het
Vmn2r118	A	T	17: 55,917,423 (GRCm39)	I363K	possibly damaging	Het
Vmn2r69	A	T	7: 85,064,838 (GRCm39)	M16K	probably benign	Het
Wdr62	G	A	7: 29,962,128 (GRCm39)	T428I	possibly damaging	Het
Yeats4	A	T	10: 117,053,374 (GRCm39)	L129Q	probably benign	Het
Zfp423	T	C	8: 88,509,784 (GRCm39)	R187G	probably damaging	Het
Zfp853	A	T	5: 143,274,702 (GRCm39)	L321Q	unknown	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
R8856:Itgb5	UTSW	16	33,720,962 (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'- AGAATGCAAATGCCACGCAG -3'
(R):5'- GACTGGATCAGTGATGTCCC -3'

Sequencing Primer
(F):5'- ATGCCACGCAGGTTACATTG -3'
(R):5'- CTTTGGCGAATGTTAGTACAAGTTC -3'

Posted On

2020-09-02