Mutagenetix > Incidental Mutations

Incidental Mutation 'R0106:Rap1gap2'

17441

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap2

Ensembl Gene

ENSMUSG00000038807

Gene Name

RAP1 GTPase activating protein 2

Synonyms

Garnl4, LOC380710

MMRRC Submission

038392-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.578) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

74383356-74610915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74435744 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 166 (C166R)

Ref Sequence

ENSEMBL: ENSMUSP00000099580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047488] [ENSMUST00000102521] [ENSMUST00000145524] [ENSMUST00000208896]

Predicted Effect

probably benign
Transcript: ENSMUST00000047488
AA Change: C226R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: C226R

Domain	Start	End	E-Value	Type
Pfam:Rap_GAP	258	445	1.2e-64	PFAM
low complexity region	617	629	N/A	INTRINSIC
low complexity region	660	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102521
AA Change: C166R

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: C166R

Domain	Start	End	E-Value	Type
Pfam:Rap_GAP	258	439	4.9e-67	PFAM
low complexity region	617	629	N/A	INTRINSIC
low complexity region	660	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145524

Predicted Effect

probably benign
Transcript: ENSMUST00000208896

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 87.6%
3x: 83.1%
10x: 68.0%
20x: 43.0%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	A	T	11: 43,587,373		probably benign	Het
A730018C14Rik	A	T	12: 112,415,194		noncoding transcript	Het
Abca5	A	T	11: 110,319,825	L176Q	probably damaging	Het
Aspm	C	A	1: 139,476,876	Q1315K	probably benign	Het
BC055324	T	C	1: 163,982,811		probably benign	Het
Bpifb4	A	G	2: 153,940,968	D31G	probably benign	Het
Brf1	A	G	12: 112,973,463		probably benign	Het
Card19	A	C	13: 49,208,145	D3E	probably benign	Het
Chd6	A	G	2: 160,967,902	F1480L	probably damaging	Het
Cldn25-ps	A	G	9: 49,047,633		noncoding transcript	Het
Col11a2	A	G	17: 34,057,275	N799D	probably damaging	Het
Cpb1	T	C	3: 20,266,533		probably null	Het
Cyp2g1	T	A	7: 26,814,182	I182N	probably damaging	Het
Dntt	A	T	19: 41,055,746		probably benign	Het
Dscc1	C	A	15: 55,083,570	C253F	probably benign	Het
Dysf	C	A	6: 84,113,336	F956L	probably benign	Het
Ephb6	T	C	6: 41,619,594		probably benign	Het
Fkbp6	C	T	5: 135,340,004	R234Q	probably benign	Het
Gda	T	C	19: 21,397,556	D332G	probably benign	Het
Ggt7	C	T	2: 155,494,893	A560T	possibly damaging	Het
Glis3	A	T	19: 28,531,868	S239T	possibly damaging	Het
Glyctk	G	A	9: 106,155,969	P124L	probably benign	Het
Gm10845	T	A	14: 79,863,204		noncoding transcript	Het
H13	A	G	2: 152,686,256	K175R	probably benign	Het
Igsf6	T	A	7: 121,074,454	I18F	probably benign	Het
Immt	A	G	6: 71,851,844	S128G	probably benign	Het
Isy1	G	A	6: 87,819,185	R257W	probably damaging	Het
Kif13a	G	T	13: 46,825,347		probably benign	Het
L2hgdh	A	T	12: 69,705,789	Y239*	probably null	Het
Lamp1	A	G	8: 13,174,550	T405A	probably damaging	Het
Lpin1	A	T	12: 16,540,979	N817K	possibly damaging	Het
Macf1	G	A	4: 123,408,564	T715I	probably benign	Het
Mapk12	T	C	15: 89,132,984		probably benign	Het
Mdga2	A	T	12: 66,716,706	N205K	probably damaging	Het
Nat10	A	G	2: 103,757,205	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,925,322	E317G	possibly damaging	Het
Nolc1	T	A	19: 46,080,089		probably benign	Het
Nomo1	T	C	7: 46,037,632	I72T	probably damaging	Het
Olfr1450	A	G	19: 12,954,356	I256V	probably benign	Het
Pappa2	C	T	1: 158,714,977	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 100,250,373	M65V	probably benign	Het
Pnisr	T	C	4: 21,874,617		probably benign	Het
Prss34	A	T	17: 25,298,726	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,976,418		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pygb	A	G	2: 150,806,203	D119G	probably benign	Het
Racgap1	T	C	15: 99,642,958	T4A	possibly damaging	Het
Rbm28	C	A	6: 29,127,803	V705L	probably benign	Het
Rgs1	C	T	1: 144,248,549	V50M	probably benign	Het
Rgs12	C	T	5: 34,966,664	T597I	probably benign	Het
Ros1	T	C	10: 52,142,267	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,473,200	R58G	probably damaging	Het
Slc6a7	A	G	18: 61,002,223	V411A	probably benign	Het
Slco1a6	A	T	6: 142,157,390		probably benign	Het
Smc1b	A	T	15: 85,070,819	D1077E	probably damaging	Het
Srek1	G	A	13: 103,743,623	H476Y	unknown	Het
Strn3	A	G	12: 51,621,788	V673A	probably benign	Het
Tepsin	T	C	11: 120,091,811		probably null	Het
Tmem131l	C	T	3: 83,934,815		probably benign	Het
Tmem132c	T	C	5: 127,554,669	V664A	possibly damaging	Het
Tmprss15	T	C	16: 79,003,389	D602G	probably damaging	Het
Trbv15	T	C	6: 41,141,265		probably benign	Het
Trpm4	A	G	7: 45,319,240		probably null	Het
Wdr70	A	T	15: 8,019,587		probably null	Het

Other mutations in Rap1gap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Rap1gap2	APN	11	74416259	missense	probably benign	0.25
IGL00839:Rap1gap2	APN	11	74437448	missense	probably damaging	1.00
IGL02301:Rap1gap2	APN	11	74407369	missense	probably damaging	1.00
IGL02367:Rap1gap2	APN	11	74397355	critical splice donor site	probably null
IGL02832:Rap1gap2	APN	11	74412455	splice site	probably benign
IGL03067:Rap1gap2	APN	11	74393412	missense	possibly damaging	0.63
IGL03341:Rap1gap2	APN	11	74435714	missense	probably damaging	1.00
IGL03355:Rap1gap2	APN	11	74412344	missense	probably damaging	1.00
P0026:Rap1gap2	UTSW	11	74567210	splice site	probably benign
R0106:Rap1gap2	UTSW	11	74435744	missense	probably benign	0.10
R0514:Rap1gap2	UTSW	11	74388854	missense	possibly damaging	0.74
R0518:Rap1gap2	UTSW	11	74441766	missense	probably damaging	1.00
R0521:Rap1gap2	UTSW	11	74441766	missense	probably damaging	1.00
R1070:Rap1gap2	UTSW	11	74437027	missense	possibly damaging	0.71
R1467:Rap1gap2	UTSW	11	74437027	missense	possibly damaging	0.71
R1467:Rap1gap2	UTSW	11	74437027	missense	possibly damaging	0.71
R1998:Rap1gap2	UTSW	11	74395833	missense	probably benign	0.04
R2144:Rap1gap2	UTSW	11	74425976	missense	probably damaging	1.00
R2145:Rap1gap2	UTSW	11	74425976	missense	probably damaging	1.00
R2180:Rap1gap2	UTSW	11	74393146	missense	probably benign	0.24
R2938:Rap1gap2	UTSW	11	74407322	missense	possibly damaging	0.71
R2991:Rap1gap2	UTSW	11	74407322	missense	possibly damaging	0.71
R2992:Rap1gap2	UTSW	11	74407322	missense	possibly damaging	0.71
R2993:Rap1gap2	UTSW	11	74407322	missense	possibly damaging	0.71
R3033:Rap1gap2	UTSW	11	74407322	missense	possibly damaging	0.71
R3035:Rap1gap2	UTSW	11	74407322	missense	possibly damaging	0.71
R3686:Rap1gap2	UTSW	11	74407322	missense	possibly damaging	0.71
R4426:Rap1gap2	UTSW	11	74407322	missense	possibly damaging	0.71
R4427:Rap1gap2	UTSW	11	74407322	missense	possibly damaging	0.71
R4621:Rap1gap2	UTSW	11	74435699	critical splice donor site	probably null
R4705:Rap1gap2	UTSW	11	74437439	missense	probably damaging	1.00
R4809:Rap1gap2	UTSW	11	74407974	splice site	probably benign
R5092:Rap1gap2	UTSW	11	74438295	missense	probably damaging	1.00
R5283:Rap1gap2	UTSW	11	74395825	missense	probably damaging	1.00
R5343:Rap1gap2	UTSW	11	74441785	missense	probably damaging	0.99
R5941:Rap1gap2	UTSW	11	74392237	missense	probably damaging	1.00
R6414:Rap1gap2	UTSW	11	74405790	missense	probably damaging	1.00
R6647:Rap1gap2	UTSW	11	74407928	missense	probably benign	0.04
R6951:Rap1gap2	UTSW	11	74484948	missense	possibly damaging	0.81
R7096:Rap1gap2	UTSW	11	74392231	missense	probably damaging	0.99
R7107:Rap1gap2	UTSW	11	74393119	missense	probably damaging	1.00
R7397:Rap1gap2	UTSW	11	74414411	missense	probably benign	0.28
R7553:Rap1gap2	UTSW	11	74435722	missense	probably damaging	0.97

Posted On

2013-01-31