Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Rap1gap2'

48130

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap2

Ensembl Gene

ENSMUSG00000038807

Gene Name

RAP1 GTPase activating protein 2

Synonyms

Garnl4, LOC380710

MMRRC Submission

038708-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74383356-74610915 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74388854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 687 (K687Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099580 (fasta)

Gene Model

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

AlphaFold

Q5SVL6

Predicted Effect

unknown
Transcript: ENSMUST00000047488
AA Change: Q745P

SMART Domains

Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: Q745P

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

possibly damaging
Transcript: ENSMUST00000102521
AA Change: K687Q

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: K687Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	T	A	9: 104,319,978	Y154F	probably damaging	Het
Acsl6	A	T	11: 54,350,580	D579V	probably damaging	Het
Adamts18	C	T	8: 113,738,769		probably null	Het
Adamts20	A	T	15: 94,270,376	V1882D	probably damaging	Het
Add3	A	T	19: 53,236,843	K465*	probably null	Het
Ago1	T	G	4: 126,439,595	I524L	probably benign	Het
Akr1c18	A	G	13: 4,137,191	M208T	probably benign	Het
Anapc1	C	A	2: 128,632,655	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,184,317	D646V	probably damaging	Het
Arnt2	T	C	7: 84,304,859	E261G	probably benign	Het
Bccip	C	T	7: 133,719,130	T211I	possibly damaging	Het
Bsn	T	C	9: 108,125,782	S475G	probably benign	Het
Cdh26	G	A	2: 178,466,828		probably null	Het
Ceacam2	A	G	7: 25,520,931	F414S	probably benign	Het
Cfb	T	C	17: 34,860,898	R172G	probably damaging	Het
Cntnap5b	A	C	1: 99,772,786	T8P	probably benign	Het
Cpne9	A	T	6: 113,290,013	I136L	probably damaging	Het
Crtc1	A	T	8: 70,402,429		probably null	Het
Dcdc2a	A	T	13: 25,119,386	H300L	probably benign	Het
Dhdh	C	T	7: 45,488,706	V20M	probably benign	Het
Dhx34	T	C	7: 16,210,537	Q584R	probably benign	Het
Dis3l2	A	G	1: 87,047,092	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,675,655		probably null	Het
Dnah5	A	G	15: 28,366,321	T2727A	probably damaging	Het
Dopey1	A	G	9: 86,520,734	E1329G	probably damaging	Het
Evpl	A	G	11: 116,223,291	V1191A	probably damaging	Het
Fam198a	A	G	9: 121,978,352	T521A	possibly damaging	Het
Fgfr1op	A	G	17: 8,191,434	N342S	possibly damaging	Het
Fhl4	T	C	10: 85,098,386	D177G	probably damaging	Het
Heg1	A	G	16: 33,726,756	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,623,391		probably null	Het
Il13	T	C	11: 53,632,518	R87G	possibly damaging	Het
Kcnc3	T	A	7: 44,595,928	Y547*	probably null	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lama1	G	A	17: 67,764,698	G860D	probably benign	Het
Lmo7	T	C	14: 101,887,173	L356P	probably damaging	Het
Lmo7	A	T	14: 101,896,559	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,011,958	H38R	probably damaging	Het
Magi3	G	A	3: 104,015,022	P1460S	probably damaging	Het
Megf8	T	A	7: 25,364,303	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,551,970	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,482,964	M1I	probably null	Het
Mug2	T	C	6: 122,081,599	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,227,064	S68P	probably benign	Het
Olfr504	T	A	7: 108,565,672	Y41F	probably damaging	Het
Olfr561	T	A	7: 102,775,332	H269Q	probably benign	Het
Os9	C	T	10: 127,119,639	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,596,359	T42S	probably benign	Het
Parg	C	A	14: 32,254,560	T186K	possibly damaging	Het
Pcnx	T	A	12: 81,995,110	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,845,936	I360T	probably damaging	Het
Pkn2	T	C	3: 142,810,458	D568G	possibly damaging	Het
Plch2	A	G	4: 154,998,886	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,433,007	C233*	probably null	Het
Prox1	G	A	1: 190,161,456	T264I	probably damaging	Het
Prr5	A	G	15: 84,702,766	N248S	probably benign	Het
Psip1	A	C	4: 83,460,037	S407R	probably damaging	Het
Rab32	A	T	10: 10,550,896	V102E	probably damaging	Het
Rbak	A	T	5: 143,173,414	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,793	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,749,442	S3T	probably damaging	Het
Rrad	T	G	8: 104,628,627	I250L	probably benign	Het
Sall4	T	C	2: 168,755,705	H405R	probably damaging	Het
Scn9a	T	C	2: 66,483,678	R1888G	probably damaging	Het
Setd5	G	T	6: 113,119,437	E535*	probably null	Het
Slc20a1	C	T	2: 129,199,891	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,385,604		probably benign	Het
Slc38a11	G	T	2: 65,316,865	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846	T38S	possibly damaging	Het
Taar4	A	G	10: 23,960,882	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,531,304	R338H	probably benign	Het
Tm2d2	A	G	8: 25,022,726	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,858,991	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317	T38A	probably benign	Het
Tmprss15	A	T	16: 78,968,267	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,826,992	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,315,327	L90F	probably benign	Het
Tpr	A	G	1: 150,402,273	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,584,336	Q5*	probably null	Het
Ubn1	A	T	16: 5,073,071	D498V	probably damaging	Het
Vipr1	T	A	9: 121,658,049	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,314,670	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,451,582	V527A	probably benign	Het
Vmn2r97	A	T	17: 18,914,472	T51S	probably benign	Het
Vwa8	G	A	14: 78,947,189	V376I	probably benign	Het
Wdfy4	T	A	14: 33,080,775	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,796,683	E47V	probably benign	Het
Zeb2	T	C	2: 45,002,647	E130G	possibly damaging	Het
Zfp111	A	G	7: 24,199,143	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,509,009	S435P	probably damaging	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
drummerboy	UTSW	11	74407372	missense	probably damaging	1.00
magister	UTSW	11	74435761	nonsense	probably null
P0026:Rap1gap2	UTSW	11	74567210	splice site	probably benign
R0106:Rap1gap2	UTSW	11	74435744	missense	probably benign	0.10
R0106:Rap1gap2	UTSW	11	74435744	missense	probably benign	0.10
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
R8038:Rap1gap2	UTSW	11	74392283	missense	probably benign	0.00
R8051:Rap1gap2	UTSW	11	74395825	missense	probably damaging	0.97
R8466:Rap1gap2	UTSW	11	74425231	missense	probably benign	0.33
R8772:Rap1gap2	UTSW	11	74405725	missense	probably damaging	1.00
R8853:Rap1gap2	UTSW	11	74407372	missense	probably damaging	1.00
R8914:Rap1gap2	UTSW	11	74435761	nonsense	probably null
R9506:Rap1gap2	UTSW	11	74414440	missense	probably damaging	0.98
R9600:Rap1gap2	UTSW	11	74393128	missense	probably benign	0.01
Z1176:Rap1gap2	UTSW	11	74610877	frame shift	probably null
Z1186:Rap1gap2	UTSW	11	74596895	missense	probably benign	0.41
Z1187:Rap1gap2	UTSW	11	74596895	missense	probably benign	0.41
Z1188:Rap1gap2	UTSW	11	74596895	missense	probably benign	0.41
Z1189:Rap1gap2	UTSW	11	74596895	missense	probably benign	0.41
Z1190:Rap1gap2	UTSW	11	74596895	missense	probably benign	0.41
Z1191:Rap1gap2	UTSW	11	74596895	missense	probably benign	0.41
Z1192:Rap1gap2	UTSW	11	74596895	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TGTGCAAGAATGAGGCGCTACTG -3'
(R):5'- CCAAGTCCGAGTACTGCTTCTGATG -3'

Sequencing Primer
(F):5'- CCTGGTCTGCACCAAGTAAG -3'
(R):5'- ACTGCTTCTGATGGGTGGG -3'

Posted On

2013-06-12