Mutagenetix > Incidental Mutation

Incidental Mutation 'R6452:Itgb3'

519428

Institutional Source

Beutler Lab

Gene Symbol

Itgb3

Ensembl Gene

ENSMUSG00000020689

Gene Name

integrin beta 3

Synonyms

platelet glycoprotein IIIa (GP3A), CD61

MMRRC Submission

044588-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R6452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104498826-104561302 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 104524290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 142 (L142*)

Ref Sequence

ENSEMBL: ENSMUSP00000021028 (fasta)

Gene Model

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

AlphaFold

O54890

Predicted Effect

probably null
Transcript: ENSMUST00000021028
AA Change: L142*

SMART Domains

Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: L142*

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	G	13: 119,624,651 (GRCm39)		probably benign	Het
Alox12e	A	T	11: 70,210,831 (GRCm39)	V296E	probably damaging	Het
Bmal2	G	A	6: 146,724,705 (GRCm39)	E400K	probably benign	Het
Ccdc171	A	G	4: 83,782,527 (GRCm39)	D1273G	probably damaging	Het
Cetn3	C	T	13: 81,932,797 (GRCm39)	R19*	probably null	Het
Chd6	G	T	2: 160,807,418 (GRCm39)	P1932H	possibly damaging	Het
Cimip1	C	A	2: 173,369,700 (GRCm39)	F71L	probably benign	Het
Cyp2d34	A	T	15: 82,500,290 (GRCm39)	I483N	probably benign	Het
Dglucy	T	C	12: 100,801,468 (GRCm39)	V71A	possibly damaging	Het
Dhx35	A	G	2: 158,673,607 (GRCm39)	E346G	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fasn	G	T	11: 120,706,237 (GRCm39)	Q1036K	probably damaging	Het
Fermt3	A	T	19: 6,992,105 (GRCm39)	F92I	probably benign	Het
Filip1l	C	A	16: 57,327,163 (GRCm39)	D64E	possibly damaging	Het
Fnbp1l	A	G	3: 122,338,198 (GRCm39)	F491S	probably damaging	Het
Fzd2	T	G	11: 102,495,811 (GRCm39)	V85G	probably damaging	Het
Gjd4	G	A	18: 9,280,457 (GRCm39)	T207M	possibly damaging	Het
Gm32742	T	C	9: 51,057,490 (GRCm39)	E1096G	probably damaging	Het
Kctd21	T	A	7: 96,996,869 (GRCm39)	I114N	probably benign	Het
Klra4	G	T	6: 130,042,329 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,197,503 (GRCm39)	V240A	probably damaging	Het
Lrriq4	T	C	3: 30,709,882 (GRCm39)	S409P	probably damaging	Het
Magel2	A	G	7: 62,030,132 (GRCm39)	E1012G	unknown	Het
Mmp24	A	T	2: 155,657,673 (GRCm39)	D521V	possibly damaging	Het
Mocos	A	G	18: 24,828,998 (GRCm39)	I768V	probably benign	Het
Mprip	A	T	11: 59,643,609 (GRCm39)	E553V	probably damaging	Het
Myh8	A	T	11: 67,183,275 (GRCm39)	Y718F	probably benign	Het
Myh8	A	T	11: 67,196,565 (GRCm39)	I1762F	possibly damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Neb	A	T	2: 52,069,495 (GRCm39)	D5775E	probably benign	Het
Or10h5	T	C	17: 33,434,919 (GRCm39)	N133S	probably benign	Het
Or5p66	A	G	7: 107,886,100 (GRCm39)	S78P	probably damaging	Het
Pramel19	T	C	4: 101,798,640 (GRCm39)	Y204H	probably benign	Het
Prl8a2	T	C	13: 27,536,780 (GRCm39)	I134T	probably benign	Het
Qrich2	G	A	11: 116,346,714 (GRCm39)	T1370I	probably benign	Het
Rabgap1l	A	G	1: 160,281,331 (GRCm39)	L630P	probably damaging	Het
Ranbp2	G	T	10: 58,313,979 (GRCm39)	L1566F	probably benign	Het
Rnf43	T	A	11: 87,623,079 (GRCm39)	W727R	probably damaging	Het
Rundc3b	A	T	5: 8,629,175 (GRCm39)		probably null	Het
Samm50	T	G	15: 84,088,298 (GRCm39)		probably benign	Het
Sema4f	G	A	6: 82,894,643 (GRCm39)	A476V	probably benign	Het
Slc4a4	A	G	5: 89,376,839 (GRCm39)	N1031S	probably benign	Het
Slc4a9	A	G	18: 36,664,512 (GRCm39)	Y390C	probably damaging	Het
Slco6d1	C	A	1: 98,348,937 (GRCm39)	Q3K	probably benign	Het
Smim1	T	C	4: 154,108,071 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sppl2c	A	T	11: 104,079,017 (GRCm39)	T606S	probably benign	Het
Tex15	A	G	8: 34,062,844 (GRCm39)	D758G	probably damaging	Het
Tigd5	A	T	15: 75,783,287 (GRCm39)	R550*	probably null	Het
Tlcd3a	G	T	11: 76,097,972 (GRCm39)	G60*	probably null	Het
Tnrc18	A	C	5: 142,712,767 (GRCm39)	L2594R	probably damaging	Het
Vezf1	A	G	11: 87,972,496 (GRCm39)	T468A	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,840 (GRCm39)	I149F	probably damaging	Het
Vmn2r96	A	C	17: 18,804,117 (GRCm39)	T264P	probably benign	Het
Zfp217	C	G	2: 169,961,214 (GRCm39)	S371T	probably benign	Het
Zfp442	G	A	2: 150,250,028 (GRCm39)	H568Y	probably damaging	Het
Zfp53	A	C	17: 21,729,875 (GRCm39)	H636P	probably damaging	Het
Zscan4d	C	T	7: 10,895,999 (GRCm39)	C457Y	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
R0637:Itgb3	UTSW	11	104,549,702 (GRCm39)	missense	probably benign	0.02
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
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'- GGAGGCCACCAACACTTTCAAG -3'
(R):5'- TCACTGGCTTGTGGAGAAAGTC -3'

Sequencing Primer
(F):5'- CACCAACACTTTCAAGCATAATTTG -3'
(R):5'- AAGTCCTTACTTGTAACAGGGG -3'

Posted On

2018-05-24