Mutagenetix > Incidental Mutation

Incidental Mutation 'R0637:Itgb3'

56770

Institutional Source

Beutler Lab

Gene Symbol

Itgb3

Ensembl Gene

ENSMUSG00000020689

Gene Name

integrin beta 3

Synonyms

platelet glycoprotein IIIa (GP3A), CD61

MMRRC Submission

038826-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R0637 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

104498826-104561302 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104549702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 614 (V614A)

Ref Sequence

ENSEMBL: ENSMUSP00000021028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021028]

AlphaFold

O54890

Predicted Effect

probably benign
Transcript: ENSMUST00000021028
AA Change: V614A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: V614A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
PSI	29	75	4.43e-5	SMART
INB	37	460	3.16e-276	SMART
VWA	136	395	8.65e-2	SMART
Pfam:EGF_2	511	546	6.8e-7	PFAM
Pfam:EGF_2	553	583	8.1e-7	PFAM
Integrin_B_tail	633	717	1.07e-28	SMART
Integrin_b_cyt	741	787	1.78e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127140

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 94.9%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit platelet defects, extended bleeding times, cutaneous and gastrointestinal bleeding, anemia, increased bone mass, hypocalcemia, reduced survival, and placental defects associated with some fetal loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	T	9: 53,498,831 (GRCm39)	D285N	probably damaging	Het
Aldh3a1	G	A	11: 61,106,304 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,600,015 (GRCm39)	T2083A	possibly damaging	Het
Atrip	C	T	9: 108,890,241 (GRCm39)	M143I	possibly damaging	Het
Aup1	T	A	6: 83,033,842 (GRCm39)	V344D	probably damaging	Het
Baiap2	G	A	11: 119,891,405 (GRCm39)	V511M	probably benign	Het
Bnip2	T	A	9: 69,910,955 (GRCm39)		probably null	Het
Cacna1i	A	T	15: 80,256,855 (GRCm39)	Y1083F	probably damaging	Het
Cbr4	T	C	8: 61,943,740 (GRCm39)		probably benign	Het
Ces2b	C	T	8: 105,561,237 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,962,550 (GRCm39)	N769S	possibly damaging	Het
Clca3b	A	T	3: 144,533,701 (GRCm39)	V558D	probably benign	Het
Col12a1	T	C	9: 79,564,017 (GRCm39)	D1736G	probably benign	Het
Cpne8	C	A	15: 90,532,824 (GRCm39)	C61F	probably damaging	Het
Cxcr1	A	G	1: 74,231,998 (GRCm39)	I8T	probably benign	Het
D630003M21Rik	T	G	2: 158,037,327 (GRCm39)		probably benign	Het
Dcaf17	T	A	2: 70,890,763 (GRCm39)	D99E	probably damaging	Het
Fbf1	C	T	11: 116,050,880 (GRCm39)		probably benign	Het
Fgfr2	T	A	7: 129,773,354 (GRCm39)	H570L	possibly damaging	Het
Gars1	G	A	6: 55,046,472 (GRCm39)		probably null	Het
Gm10309	A	G	17: 86,806,463 (GRCm39)		probably benign	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Gm9892	G	A	8: 52,649,860 (GRCm39)	Q78*	probably null	Het
Has1	A	G	17: 18,064,125 (GRCm39)	Y505H	possibly damaging	Het
Hivep3	T	A	4: 119,989,738 (GRCm39)	L2063*	probably null	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Lrrc23	A	G	6: 124,755,321 (GRCm39)		probably benign	Het
Lrrc63	A	T	14: 75,335,660 (GRCm39)		probably benign	Het
Mfhas1	C	T	8: 36,057,180 (GRCm39)	R357*	probably null	Het
Mink1	C	A	11: 70,492,502 (GRCm39)	N123K	probably damaging	Het
Mtmr4	A	G	11: 87,501,890 (GRCm39)	H591R	probably benign	Het
Nav3	T	C	10: 109,606,058 (GRCm39)	T923A	probably benign	Het
Ncapg	A	G	5: 45,844,666 (GRCm39)	T554A	probably damaging	Het
Nfe2l1	T	C	11: 96,718,514 (GRCm39)	Y7C	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Obscn	A	T	11: 58,942,470 (GRCm39)	M4904K	probably damaging	Het
Obscn	G	T	11: 58,973,602 (GRCm39)	L1910I	probably damaging	Het
Or8b41	T	C	9: 38,055,178 (GRCm39)	F244S	probably benign	Het
Pcdhb15	T	A	18: 37,608,619 (GRCm39)	V617E	probably damaging	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Pgrmc1	T	C	X: 35,865,924 (GRCm39)	F160S	probably damaging	Het
Pink1	G	T	4: 138,045,357 (GRCm39)	P239Q	probably damaging	Het
Pramel25	A	T	4: 143,520,479 (GRCm39)	Y77F	probably benign	Het
Prr27	A	G	5: 87,999,005 (GRCm39)		probably benign	Het
Rbpms	G	A	8: 34,296,864 (GRCm39)	P138S	probably damaging	Het
Rcc2	T	C	4: 140,445,055 (GRCm39)		probably benign	Het
Rgs3	T	C	4: 62,564,910 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo1	C	T	16: 72,798,839 (GRCm39)	T933M	probably benign	Het
Sinhcaf	A	G	6: 148,832,163 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,028,398 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,689,560 (GRCm39)	Y2009C	probably damaging	Het
Tnr	A	C	1: 159,677,905 (GRCm39)	T97P	possibly damaging	Het
Topaz1	T	A	9: 122,620,542 (GRCm39)	L1320*	probably null	Het
Topaz1	A	G	9: 122,626,727 (GRCm39)	M1452V	probably benign	Het
Trank1	T	G	9: 111,219,509 (GRCm39)	F2082C	probably damaging	Het
Trim24	C	A	6: 37,935,494 (GRCm39)		probably null	Het
Tspoap1	T	A	11: 87,668,066 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,126,926 (GRCm39)	L483P	probably damaging	Het
Vmn2r2	T	A	3: 64,033,999 (GRCm39)	T508S	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp366	C	A	13: 99,365,474 (GRCm39)	R212S	probably damaging	Het
Zkscan4	T	A	13: 21,665,477 (GRCm39)	C122S	probably damaging	Het

Other mutations in Itgb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Itgb3	APN	11	104,524,410 (GRCm39)	missense	probably damaging	1.00
IGL01460:Itgb3	APN	11	104,553,220 (GRCm39)	nonsense	probably null
IGL01615:Itgb3	APN	11	104,534,791 (GRCm39)	missense	probably damaging	1.00
IGL01669:Itgb3	APN	11	104,524,216 (GRCm39)	splice site	probably benign
IGL02057:Itgb3	APN	11	104,523,174 (GRCm39)	missense	probably damaging	1.00
IGL02192:Itgb3	APN	11	104,534,765 (GRCm39)	missense	probably benign
IGL02604:Itgb3	APN	11	104,553,269 (GRCm39)	missense	probably damaging	0.99
IGL02708:Itgb3	APN	11	104,528,655 (GRCm39)	missense	possibly damaging	0.60
IGL02901:Itgb3	APN	11	104,528,772 (GRCm39)	missense	probably benign	0.18
IGL03288:Itgb3	APN	11	104,524,293 (GRCm39)	missense	probably damaging	1.00
R0042:Itgb3	UTSW	11	104,557,966 (GRCm39)	missense	possibly damaging	0.80
R0042:Itgb3	UTSW	11	104,557,966 (GRCm39)	missense	possibly damaging	0.80
R0123:Itgb3	UTSW	11	104,527,914 (GRCm39)	missense	probably damaging	1.00
R0125:Itgb3	UTSW	11	104,534,789 (GRCm39)	missense	probably damaging	1.00
R2017:Itgb3	UTSW	11	104,528,788 (GRCm39)	missense	possibly damaging	0.70
R2045:Itgb3	UTSW	11	104,514,239 (GRCm39)	missense	probably benign
R2200:Itgb3	UTSW	11	104,531,812 (GRCm39)	splice site	probably null
R2225:Itgb3	UTSW	11	104,556,336 (GRCm39)	missense	probably benign	0.00
R2429:Itgb3	UTSW	11	104,527,914 (GRCm39)	missense	probably damaging	1.00
R3820:Itgb3	UTSW	11	104,524,438 (GRCm39)	nonsense	probably null
R4863:Itgb3	UTSW	11	104,556,346 (GRCm39)	missense	probably damaging	1.00
R5116:Itgb3	UTSW	11	104,531,903 (GRCm39)	missense	probably benign	0.20
R5301:Itgb3	UTSW	11	104,524,480 (GRCm39)	splice site	probably null
R5933:Itgb3	UTSW	11	104,528,805 (GRCm39)	missense	possibly damaging	0.63
R6361:Itgb3	UTSW	11	104,556,408 (GRCm39)	missense	possibly damaging	0.72
R6436:Itgb3	UTSW	11	104,524,318 (GRCm39)	missense	probably damaging	0.99
R6452:Itgb3	UTSW	11	104,524,290 (GRCm39)	nonsense	probably null
R7196:Itgb3	UTSW	11	104,524,438 (GRCm39)	nonsense	probably null
R7438:Itgb3	UTSW	11	104,534,403 (GRCm39)	missense	possibly damaging	0.90
R8006:Itgb3	UTSW	11	104,556,322 (GRCm39)	missense	possibly damaging	0.56
R8068:Itgb3	UTSW	11	104,556,337 (GRCm39)	missense	probably benign	0.35
R8378:Itgb3	UTSW	11	104,533,142 (GRCm39)	missense	possibly damaging	0.95
R9052:Itgb3	UTSW	11	104,524,413 (GRCm39)	missense	probably damaging	1.00
R9055:Itgb3	UTSW	11	104,556,451 (GRCm39)	nonsense	probably null
Z1176:Itgb3	UTSW	11	104,534,449 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- ATGGGCAATGTAACTGTGGGGACTGC -3'
(R):5'- TGTGCTGACTGACGCTTCCTCAAC -3'

Sequencing Primer
(F):5'- GCGTGTGTGACTCGGAC -3'
(R):5'- TTCGAGATGCCACTCTGGAAG -3'

Posted On

2013-07-11