Mutagenetix > Incidental Mutation

Incidental Mutation 'R2993:Rap1gap2'

257975

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap2

Ensembl Gene

ENSMUSG00000038807

Gene Name

RAP1 GTPase activating protein 2

Synonyms

Garnl4, LOC380710

MMRRC Submission

040528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2993 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74274182-74501741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74298148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 491 (A491S)

Ref Sequence

ENSEMBL: ENSMUSP00000040180 (fasta)

Gene Model

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

AlphaFold

Q5SVL6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047488
AA Change: A491S

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: A491S

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: A431S

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: A431S

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

noncoding transcript
Transcript: ENSMUST00000123440

Meta Mutation Damage Score

0.2916

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (34/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	A	G	3: 124,372,184 (GRCm39)	W67R	probably damaging	Het
Abca16	T	C	7: 120,134,384 (GRCm39)	V1377A	probably damaging	Het
Adarb2	A	C	13: 8,763,752 (GRCm39)	I550L	probably benign	Het
Afdn	T	C	17: 14,111,262 (GRCm39)		probably null	Het
Ago1	G	T	4: 126,333,839 (GRCm39)		probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdc7	G	A	5: 107,121,764 (GRCm39)	V226I	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cyp4a31	G	A	4: 115,427,017 (GRCm39)	V206I	probably benign	Het
Ddx47	G	T	6: 134,995,944 (GRCm39)	R120L	probably damaging	Het
Dnah7a	G	A	1: 53,542,713 (GRCm39)	L2486F	probably damaging	Het
Eif3d	A	G	15: 77,845,905 (GRCm39)	I372T	possibly damaging	Het
Eogt	A	T	6: 97,095,915 (GRCm39)		probably null	Het
Epb42	G	A	2: 120,859,525 (GRCm39)		probably benign	Het
Fbxl2	T	C	9: 113,818,484 (GRCm39)	E159G	possibly damaging	Het
Gabrb2	T	C	11: 42,488,476 (GRCm39)	V314A	probably damaging	Het
Gpr15lg	T	A	14: 36,829,402 (GRCm39)	H27L	probably benign	Het
Gtf2h3	T	C	5: 124,721,997 (GRCm39)	F32L	probably benign	Het
Gzmk	A	G	13: 113,317,011 (GRCm39)	I56T	probably damaging	Het
Katnbl1	G	T	2: 112,238,963 (GRCm39)		probably null	Het
Klhdc4	G	C	8: 122,533,320 (GRCm39)	S118*	probably null	Het
Klrb1-ps1	A	T	6: 129,097,992 (GRCm39)	K73N	probably benign	Het
Lrp1	T	C	10: 127,446,250 (GRCm39)	D98G	probably damaging	Het
Lrrfip1	C	A	1: 91,032,956 (GRCm39)	D313E	probably damaging	Het
Misp3	A	G	8: 84,738,213 (GRCm39)	L34P	probably damaging	Het
Mmp21	C	T	7: 133,280,715 (GRCm39)	R85H	probably damaging	Het
Mrpl16	A	G	19: 11,751,895 (GRCm39)	I218M	possibly damaging	Het
Mtmr4	T	A	11: 87,495,823 (GRCm39)	V553D	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Spata31e2	A	T	1: 26,724,909 (GRCm39)	D90E	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,472 (GRCm39)	S16R	probably damaging	Het
Vmn2r55	C	T	7: 12,418,882 (GRCm39)	A13T	probably damaging	Het
Zer1	A	G	2: 29,991,909 (GRCm39)	V637A	probably damaging	Het

Other mutations in Rap1gap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Rap1gap2	APN	11	74,307,085 (GRCm39)	missense	probably benign	0.25
IGL00839:Rap1gap2	APN	11	74,328,274 (GRCm39)	missense	probably damaging	1.00
IGL02301:Rap1gap2	APN	11	74,298,195 (GRCm39)	missense	probably damaging	1.00
IGL02367:Rap1gap2	APN	11	74,288,181 (GRCm39)	critical splice donor site	probably null
IGL02832:Rap1gap2	APN	11	74,303,281 (GRCm39)	splice site	probably benign
IGL03067:Rap1gap2	APN	11	74,284,238 (GRCm39)	missense	possibly damaging	0.63
IGL03341:Rap1gap2	APN	11	74,326,540 (GRCm39)	missense	probably damaging	1.00
IGL03355:Rap1gap2	APN	11	74,303,170 (GRCm39)	missense	probably damaging	1.00
drummerboy	UTSW	11	74,298,198 (GRCm39)	missense	probably damaging	1.00
magister	UTSW	11	74,326,587 (GRCm39)	nonsense	probably null
P0026:Rap1gap2	UTSW	11	74,458,036 (GRCm39)	splice site	probably benign
R0106:Rap1gap2	UTSW	11	74,326,570 (GRCm39)	missense	probably benign	0.10
R0106:Rap1gap2	UTSW	11	74,326,570 (GRCm39)	missense	probably benign	0.10
R0514:Rap1gap2	UTSW	11	74,279,680 (GRCm39)	missense	possibly damaging	0.74
R0518:Rap1gap2	UTSW	11	74,332,592 (GRCm39)	missense	probably damaging	1.00
R0521:Rap1gap2	UTSW	11	74,332,592 (GRCm39)	missense	probably damaging	1.00
R1070:Rap1gap2	UTSW	11	74,327,853 (GRCm39)	missense	possibly damaging	0.71
R1467:Rap1gap2	UTSW	11	74,327,853 (GRCm39)	missense	possibly damaging	0.71
R1467:Rap1gap2	UTSW	11	74,327,853 (GRCm39)	missense	possibly damaging	0.71
R1998:Rap1gap2	UTSW	11	74,286,659 (GRCm39)	missense	probably benign	0.04
R2144:Rap1gap2	UTSW	11	74,316,802 (GRCm39)	missense	probably damaging	1.00
R2145:Rap1gap2	UTSW	11	74,316,802 (GRCm39)	missense	probably damaging	1.00
R2180:Rap1gap2	UTSW	11	74,283,972 (GRCm39)	missense	probably benign	0.24
R2938:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R2991:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R2992:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R3033:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R3035:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R3686:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R4426:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R4427:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R4621:Rap1gap2	UTSW	11	74,326,525 (GRCm39)	critical splice donor site	probably null
R4705:Rap1gap2	UTSW	11	74,328,265 (GRCm39)	missense	probably damaging	1.00
R4809:Rap1gap2	UTSW	11	74,298,800 (GRCm39)	splice site	probably benign
R5092:Rap1gap2	UTSW	11	74,329,121 (GRCm39)	missense	probably damaging	1.00
R5283:Rap1gap2	UTSW	11	74,286,651 (GRCm39)	missense	probably damaging	1.00
R5343:Rap1gap2	UTSW	11	74,332,611 (GRCm39)	missense	probably damaging	0.99
R5941:Rap1gap2	UTSW	11	74,283,063 (GRCm39)	missense	probably damaging	1.00
R6414:Rap1gap2	UTSW	11	74,296,616 (GRCm39)	missense	probably damaging	1.00
R6647:Rap1gap2	UTSW	11	74,298,754 (GRCm39)	missense	probably benign	0.04
R6951:Rap1gap2	UTSW	11	74,375,774 (GRCm39)	missense	possibly damaging	0.81
R7096:Rap1gap2	UTSW	11	74,283,057 (GRCm39)	missense	probably damaging	0.99
R7107:Rap1gap2	UTSW	11	74,283,945 (GRCm39)	missense	probably damaging	1.00
R7397:Rap1gap2	UTSW	11	74,305,237 (GRCm39)	missense	probably benign	0.28
R7553:Rap1gap2	UTSW	11	74,326,548 (GRCm39)	missense	probably damaging	0.97
R8038:Rap1gap2	UTSW	11	74,283,109 (GRCm39)	missense	probably benign	0.00
R8051:Rap1gap2	UTSW	11	74,286,651 (GRCm39)	missense	probably damaging	0.97
R8466:Rap1gap2	UTSW	11	74,316,057 (GRCm39)	missense	probably benign	0.33
R8772:Rap1gap2	UTSW	11	74,296,551 (GRCm39)	missense	probably damaging	1.00
R8853:Rap1gap2	UTSW	11	74,298,198 (GRCm39)	missense	probably damaging	1.00
R8914:Rap1gap2	UTSW	11	74,326,587 (GRCm39)	nonsense	probably null
R9506:Rap1gap2	UTSW	11	74,305,266 (GRCm39)	missense	probably damaging	0.98
R9600:Rap1gap2	UTSW	11	74,283,954 (GRCm39)	missense	probably benign	0.01
Z1176:Rap1gap2	UTSW	11	74,501,703 (GRCm39)	frame shift	probably null
Z1186:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1187:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1188:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1189:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1190:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1191:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1192:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TGGTAACAGAGCAAGACCTG -3'
(R):5'- TTGGCTGGAAATGACCGGATATG -3'

Sequencing Primer
(F):5'- GAGCAAGACCTGGACATACTACATG -3'
(R):5'- CCGGATATGAGAGGGCTAACGC -3'

Posted On

2015-01-11