Mutagenetix > Incidental Mutation

Incidental Mutation 'R7107:Rap1gap2'

551265

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap2

Ensembl Gene

ENSMUSG00000038807

Gene Name

RAP1 GTPase activating protein 2

Synonyms

Garnl4, LOC380710

MMRRC Submission

045199-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7107 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74274182-74501741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74283945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 618 (R618C)

Ref Sequence

ENSEMBL: ENSMUSP00000099580 (fasta)

Gene Model

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

AlphaFold

Q5SVL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000047488
AA Change: R678C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: R678C

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 damaging
Transcript: ENSMUST00000102521
AA Change: R618C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: R618C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,867,299 (GRCm39)	L253S	probably damaging	Het
Adgrv1	T	C	13: 81,726,261 (GRCm39)	E588G	probably benign	Het
Ahcy	G	A	2: 154,910,893 (GRCm39)	A25V	probably damaging	Het
Ank2	A	C	3: 126,797,631 (GRCm39)	L710R	probably damaging	Het
Ap1b1	A	G	11: 4,989,558 (GRCm39)	T824A	probably benign	Het
Arap2	T	A	5: 62,763,551 (GRCm39)	H1531L	probably damaging	Het
Atosb	A	T	4: 43,036,434 (GRCm39)	V99E	probably benign	Het
B3gnt7	T	C	1: 86,233,495 (GRCm39)	L247P	probably damaging	Het
Bcl6b	A	G	11: 70,117,396 (GRCm39)	C409R	probably damaging	Het
Bicdl1	T	C	5: 115,808,229 (GRCm39)	H301R	probably benign	Het
Casc3	T	A	11: 98,718,413 (GRCm39)	I491N	possibly damaging	Het
Ccdc92b	T	A	11: 74,520,887 (GRCm39)	L63Q	probably damaging	Het
Cep250	A	G	2: 155,837,314 (GRCm39)	T2319A	probably benign	Het
Chd1	T	C	17: 15,981,628 (GRCm39)	S1356P	probably damaging	Het
Chd8	A	G	14: 52,450,129 (GRCm39)	S1542P	probably benign	Het
Clec2m	A	G	6: 129,299,915 (GRCm39)	C188R	probably damaging	Het
Cntnap4	A	G	8: 113,542,120 (GRCm39)	D751G	probably damaging	Het
Cpsf4l	G	A	11: 113,593,315 (GRCm39)	R90C	possibly damaging	Het
Defa21	G	A	8: 21,515,724 (GRCm39)	A41T	probably damaging	Het
Dennd4a	G	T	9: 64,801,681 (GRCm39)	L941F	possibly damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dtx4	A	T	19: 12,450,624 (GRCm39)	C529*	probably null	Het
Entpd3	A	G	9: 120,389,665 (GRCm39)	Y317C	probably damaging	Het
Erp29	T	A	5: 121,583,381 (GRCm39)	I182F	possibly damaging	Het
Fam161a	A	G	11: 22,973,452 (GRCm39)	R445G	possibly damaging	Het
Fam76a	T	A	4: 132,631,232 (GRCm39)	M238L	possibly damaging	Het
Fn1	T	C	1: 71,666,408 (GRCm39)	Y875C	probably damaging	Het
Gnb2	A	G	5: 137,528,444 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,237,963 (GRCm39)	S229P	probably damaging	Het
Ighv6-6	A	G	12: 114,398,590 (GRCm39)	S59P	probably damaging	Het
Itpkc	C	A	7: 26,927,702 (GRCm39)	A71S	probably benign	Het
Kcnk10	G	A	12: 98,485,002 (GRCm39)	R45*	probably null	Het
Krcc1	A	G	6: 71,261,198 (GRCm39)	S77G	probably benign	Het
Lelp1	G	A	3: 92,042,821 (GRCm39)	T76I	unknown	Het
Lifr	A	T	15: 7,208,421 (GRCm39)	I600F	possibly damaging	Het
Lrrk1	T	A	7: 65,937,191 (GRCm39)	D987V	possibly damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo9a	A	G	9: 59,778,098 (GRCm39)	I1285V	probably benign	Het
Ndel1	T	C	11: 68,713,474 (GRCm39)	D321G	possibly damaging	Het
Nlrp4b	T	C	7: 10,449,144 (GRCm39)	V449A	probably damaging	Het
Or10q12	A	G	19: 13,746,525 (GRCm39)	E273G	probably benign	Het
Or2r11	T	C	6: 42,437,488 (GRCm39)	N155S	possibly damaging	Het
Or2y1c	T	A	11: 49,361,261 (GRCm39)	Y94*	probably null	Het
Or51k1	A	T	7: 103,661,489 (GRCm39)	L140Q	probably benign	Het
Or5k3	A	C	16: 58,969,279 (GRCm39)	D22A	probably benign	Het
Osbpl1a	G	A	18: 12,974,310 (GRCm39)	R459*	probably null	Het
Pabpc1l	A	C	2: 163,884,399 (GRCm39)	T379P	probably damaging	Het
Pde2a	A	T	7: 101,071,175 (GRCm39)	Q15L	probably benign	Het
Pdk1	A	G	2: 71,726,085 (GRCm39)	N331S	probably benign	Het
Pfdn1	A	T	18: 36,584,519 (GRCm39)		probably null	Het
Pnliprp1	T	A	19: 58,717,582 (GRCm39)	L9H	probably damaging	Het
Prl7a2	A	T	13: 27,843,076 (GRCm39)	D242E	possibly damaging	Het
Prmt9	T	A	8: 78,294,880 (GRCm39)	I408N	possibly damaging	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Pstpip1	A	T	9: 56,035,934 (GRCm39)	D393V	probably damaging	Het
Rab5b	A	G	10: 128,519,062 (GRCm39)		probably null	Het
Rin1	A	G	19: 5,100,801 (GRCm39)		probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sdk1	A	G	5: 142,067,471 (GRCm39)	T1124A	probably damaging	Het
Sirpb1c	T	A	3: 15,892,941 (GRCm39)	T88S	possibly damaging	Het
Slc35f6	T	A	5: 30,814,121 (GRCm39)	I189N	probably damaging	Het
Slc49a3	T	A	5: 108,596,581 (GRCm39)		probably null	Het
Spata31d1e	T	A	13: 59,889,997 (GRCm39)	R608*	probably null	Het
Spsb2	A	T	6: 124,787,244 (GRCm39)	Q226L	probably benign	Het
Stab2	T	C	10: 86,741,456 (GRCm39)	D1221G	possibly damaging	Het
Sugp1	G	A	8: 70,522,800 (GRCm39)	R500H	probably benign	Het
Syne1	A	G	10: 5,082,078 (GRCm39)	Y849H	probably damaging	Het
Tbck	T	A	3: 132,428,092 (GRCm39)	I249N	possibly damaging	Het
Tdrd6	A	C	17: 43,935,095 (GRCm39)	F1984L	probably benign	Het
Tnxb	T	A	17: 34,890,314 (GRCm39)	V219E	unknown	Het
Tpst1	T	A	5: 130,143,344 (GRCm39)	V294D	probably damaging	Het
Treml1	A	G	17: 48,667,247 (GRCm39)	Q44R	probably damaging	Het
Trrap	G	A	5: 144,733,945 (GRCm39)	A933T	probably benign	Het
Vars2	A	G	17: 35,969,142 (GRCm39)	L853P	probably damaging	Het
Vmn1r10	A	T	6: 57,090,615 (GRCm39)	N69I	possibly damaging	Het
Vmn1r179	T	A	7: 23,627,819 (GRCm39)	Y3*	probably null	Het
Vmn2r38	T	A	7: 9,093,728 (GRCm39)	Y498F	probably benign	Het
Zc3h11a	T	C	1: 133,566,655 (GRCm39)	T179A	probably damaging	Het
Zmym2	A	G	14: 57,140,169 (GRCm39)	T3A	probably benign	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
R2993: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
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'- AGAGTATGACCAGCTAGGCC -3'
(R):5'- AGCTCTCCAGAAATTTGTCCC -3'

Sequencing Primer
(F):5'- CAGGTAAGTAAAATCCTTCTGTGGCC -3'
(R):5'- CAGTTTTCTGGTGGACCTG -3'

Posted On

2019-05-15