Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03286:Rap1b'

415709

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rap1b

Ensembl Gene

ENSMUSG00000052681

Gene Name

RAS related protein 1b

Synonyms

2810443E11Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

117650502-117681879 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 117654480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 120 (L120*)

Ref Sequence

ENSEMBL: ENSMUSP00000066238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064667] [ENSMUST00000220214]

AlphaFold

Q99JI6

Predicted Effect

probably null
Transcript: ENSMUST00000064667
AA Change: L120*

SMART Domains

Protein: ENSMUSP00000066238
Gene: ENSMUSG00000052681
AA Change: L120*

Domain	Start	End	E-Value	Type
RAS	1	168	2.4e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220214

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display partial embryonic and perinatal lethality, abdominal, cranial, and hepatic bleeding in mice that die in utero, reduced platelet aggregation, and decreased thrombus formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,088,543 (GRCm39)	G110S	probably benign	Het
Arhgap32	T	C	9: 32,170,816 (GRCm39)	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,005,397 (GRCm39)	D147G	probably benign	Het
Calcoco2	A	G	11: 95,994,098 (GRCm39)	V116A	possibly damaging	Het
Chd5	A	T	4: 152,469,952 (GRCm39)	M1842L	probably benign	Het
Comt	T	C	16: 18,230,490 (GRCm39)	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,308,206 (GRCm39)	I175M	probably benign	Het
Dnah6	A	T	6: 73,060,068 (GRCm39)	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,856,628 (GRCm39)	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,321,012 (GRCm39)	D258G	probably damaging	Het
Eml5	T	C	12: 98,826,762 (GRCm39)	D630G	probably damaging	Het
Ext2	C	T	2: 93,537,617 (GRCm39)	V590M	probably damaging	Het
Fchsd2	T	C	7: 100,908,982 (GRCm39)		probably null	Het
Gm13272	A	G	4: 88,698,586 (GRCm39)	Q167R	probably benign	Het
Gm21834	A	G	17: 58,048,922 (GRCm39)	V98A	possibly damaging	Het
Grid1	T	A	14: 35,242,642 (GRCm39)		probably benign	Het
H2-DMa	T	A	17: 34,356,083 (GRCm39)		probably null	Het
Ighv5-17	T	G	12: 113,822,797 (GRCm39)	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261 (GRCm39)	T144A	probably benign	Het
Ipo9	A	G	1: 135,334,816 (GRCm39)		probably benign	Het
Itga4	A	T	2: 79,119,706 (GRCm39)	Y504F	probably damaging	Het
Krt5	A	G	15: 101,615,983 (GRCm39)	F544S	unknown	Het
Larp4	A	G	15: 99,883,967 (GRCm39)	Y67C	probably damaging	Het
Msh2	T	C	17: 87,990,095 (GRCm39)	M261T	possibly damaging	Het
Nav1	A	T	1: 135,382,274 (GRCm39)	C1367S	probably benign	Het
Nox4	T	A	7: 87,019,349 (GRCm39)		probably benign	Het
Noxa1	A	G	2: 24,975,732 (GRCm39)		probably null	Het
Or5b98	A	C	19: 12,931,532 (GRCm39)	Y193S	probably benign	Het
Or6p1	A	C	1: 174,258,743 (GRCm39)	I250L	probably benign	Het
Pde4d	T	A	13: 110,091,040 (GRCm39)		probably benign	Het
Pdlim2	C	T	14: 70,411,925 (GRCm39)	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,361,658 (GRCm39)	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,581,473 (GRCm39)	T582K	probably damaging	Het
Rft1	C	T	14: 30,383,323 (GRCm39)	T121I	probably benign	Het
Scn1a	A	G	2: 66,107,920 (GRCm39)	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,233,293 (GRCm39)	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,619,928 (GRCm39)	I85V	probably null	Het
Slfn8	A	T	11: 82,904,294 (GRCm39)	F365L	probably damaging	Het
Smcr8	T	A	11: 60,668,853 (GRCm39)		probably benign	Het
Sntb1	T	C	15: 55,655,442 (GRCm39)	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,332,858 (GRCm39)	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,797,860 (GRCm39)	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,431,579 (GRCm39)	G367D	probably damaging	Het
Stab1	C	T	14: 30,881,283 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,662,067 (GRCm39)		probably benign	Het
Tchhl1	C	T	3: 93,378,430 (GRCm39)	A378V	probably benign	Het
Tet3	A	T	6: 83,352,760 (GRCm39)	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,199,913 (GRCm39)	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,468 (GRCm39)	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,346,654 (GRCm39)	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,018,703 (GRCm39)	M141L	probably benign	Het

Other mutations in Rap1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01932:Rap1b	APN	10	117,658,765 (GRCm39)	missense	probably damaging	1.00
IGL02539:Rap1b	APN	10	117,658,709 (GRCm39)	missense	possibly damaging	0.82
R0591:Rap1b	UTSW	10	117,654,522 (GRCm39)	unclassified	probably benign
R1939:Rap1b	UTSW	10	117,654,491 (GRCm39)	missense	probably damaging	1.00
R2509:Rap1b	UTSW	10	117,654,444 (GRCm39)	missense	probably damaging	0.98
R2902:Rap1b	UTSW	10	117,660,507 (GRCm39)	missense	probably damaging	1.00
R4825:Rap1b	UTSW	10	117,654,487 (GRCm39)	missense	probably benign	0.04
R5131:Rap1b	UTSW	10	117,660,516 (GRCm39)	missense	probably damaging	0.96
R6084:Rap1b	UTSW	10	117,660,516 (GRCm39)	missense	probably damaging	0.96
R6186:Rap1b	UTSW	10	117,656,457 (GRCm39)	missense	probably damaging	1.00
R6737:Rap1b	UTSW	10	117,658,713 (GRCm39)	missense	probably damaging	0.97
R7026:Rap1b	UTSW	10	117,654,384 (GRCm39)	missense	probably benign	0.01
R7530:Rap1b	UTSW	10	117,653,357 (GRCm39)	nonsense	probably null
R8069:Rap1b	UTSW	10	117,657,514 (GRCm39)	missense	probably damaging	1.00
R8686:Rap1b	UTSW	10	117,658,746 (GRCm39)	missense	probably damaging	1.00
R9163:Rap1b	UTSW	10	117,654,391 (GRCm39)	missense	possibly damaging	0.53

Posted On

2016-08-02