Mutagenetix > Incidental Mutation

Incidental Mutation 'R7397:Rap1gap2'

573908

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap2

Ensembl Gene

ENSMUSG00000038807

Gene Name

RAP1 GTPase activating protein 2

Synonyms

Garnl4, LOC380710

MMRRC Submission

045479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7397 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74274182-74501741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74305237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 323 (T323A)

Ref Sequence

ENSEMBL: ENSMUSP00000099580 (fasta)

Gene Model

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

AlphaFold

Q5SVL6

Predicted Effect

probably benign
Transcript: ENSMUST00000047488
AA Change: T383A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: T383A

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: T323A

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: T323A

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

Meta Mutation Damage Score

0.1602

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,848 (GRCm39)	H3R	unknown	Het
Adam18	T	A	8: 25,136,321 (GRCm39)	E400V	possibly damaging	Het
Ak5	A	T	3: 152,183,989 (GRCm39)	F473I	probably damaging	Het
Arhgef10l	G	A	4: 140,290,115 (GRCm39)	P486S	probably damaging	Het
Asphd1	T	A	7: 126,548,001 (GRCm39)	R101W	possibly damaging	Het
Bhlha15	G	A	5: 144,128,223 (GRCm39)	E112K	probably damaging	Het
C4b	A	T	17: 34,961,364 (GRCm39)	D198E	possibly damaging	Het
Carmil1	G	T	13: 24,228,294 (GRCm39)	P961T	probably damaging	Het
Catsperb	T	C	12: 101,554,282 (GRCm39)	S659P	possibly damaging	Het
Cdh3	C	T	8: 107,263,241 (GRCm39)	R97*	probably null	Het
Cep192	T	C	18: 67,989,268 (GRCm39)	I1805T	probably damaging	Het
Cep250	T	G	2: 155,823,331 (GRCm39)	L995R	probably damaging	Het
Cfap276	T	A	3: 108,450,864 (GRCm39)	I102N	probably benign	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chd5	A	G	4: 152,452,469 (GRCm39)	K809E	possibly damaging	Het
Csmd3	T	C	15: 47,559,130 (GRCm39)	T1467A		Het
Ctla2a	T	A	13: 61,083,463 (GRCm39)	R60S	probably damaging	Het
Cts6	A	T	13: 61,350,014 (GRCm39)	D22E	possibly damaging	Het
Ctsll3	T	A	13: 60,948,532 (GRCm39)	E109V	probably benign	Het
Dgka	G	A	10: 128,556,594 (GRCm39)	P701S	possibly damaging	Het
Dnhd1	A	T	7: 105,354,504 (GRCm39)	I3089F	possibly damaging	Het
Dock2	T	A	11: 34,609,816 (GRCm39)	D208V	probably benign	Het
Fnbp1l	G	T	3: 122,338,286 (GRCm39)	Q520K	probably benign	Het
Foxc1	A	G	13: 31,991,618 (GRCm39)	D143G	probably damaging	Het
Fsip2	G	A	2: 82,815,601 (GRCm39)	R3778Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,969,508 (GRCm39)	C4S	probably damaging	Het
Gpt	C	A	15: 76,582,717 (GRCm39)	T294K	probably benign	Het
Hsd17b4	G	T	18: 50,279,491 (GRCm39)	G157C	probably damaging	Het
Iars1	G	A	13: 49,882,153 (GRCm39)	E1066K	probably benign	Het
Ifih1	G	A	2: 62,453,832 (GRCm39)	T260I	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ipcef1	T	A	10: 6,922,244 (GRCm39)	*338R	probably null	Het
Kif20a	A	G	18: 34,760,729 (GRCm39)	T166A	probably damaging	Het
Map3k1	G	A	13: 111,891,742 (GRCm39)	A1171V	probably damaging	Het
Map3k21	T	C	8: 126,661,855 (GRCm39)	F484S	probably damaging	Het
Mbnl1	A	T	3: 60,523,051 (GRCm39)	Q180L	probably benign	Het
Mmp2	T	C	8: 93,562,755 (GRCm39)	F331L	possibly damaging	Het
Ms4a7	G	T	19: 11,298,916 (GRCm39)	H257N	probably benign	Het
Mtbp	T	A	15: 55,432,547 (GRCm39)	S285T	probably benign	Het
Mtrex	A	T	13: 113,058,220 (GRCm39)	D70E	probably benign	Het
Myo1c	A	G	11: 75,562,068 (GRCm39)	N852S	probably benign	Het
Myom3	T	A	4: 135,510,429 (GRCm39)	F574Y	probably damaging	Het
Nbeal2	A	G	9: 110,457,100 (GRCm39)	I2322T	possibly damaging	Het
Nlrp10	A	G	7: 108,523,899 (GRCm39)	L527P	probably damaging	Het
Nudt16l2	A	T	9: 105,021,621 (GRCm39)	W142R	probably damaging	Het
Nxnl1	C	T	8: 72,019,105 (GRCm39)	G40D	probably damaging	Het
Or52n1	C	T	7: 104,382,815 (GRCm39)	C252Y	possibly damaging	Het
Or5af1	C	T	11: 58,722,115 (GRCm39)	T45M	probably benign	Het
Otof	A	T	5: 30,533,051 (GRCm39)	W1564R	probably damaging	Het
Pcdhga7	A	G	18: 37,850,327 (GRCm39)	Y778C	probably benign	Het
Pcnx2	C	T	8: 126,617,624 (GRCm39)		probably null	Het
Pdpr	T	A	8: 111,839,385 (GRCm39)	N169K	possibly damaging	Het
Pkd1l2	C	A	8: 117,762,641 (GRCm39)	V1379F	possibly damaging	Het
Ppp4r1	T	G	17: 66,144,786 (GRCm39)	I801S	probably benign	Het
Ppp4r4	A	T	12: 103,579,065 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,366,327 (GRCm39)	D202G	probably benign	Het
Rapgef4	T	C	2: 72,036,010 (GRCm39)	M501T	probably benign	Het
Rbm6	A	G	9: 107,729,718 (GRCm39)	M310T	probably benign	Het
Rdh1	A	T	10: 127,596,047 (GRCm39)	I81F	probably benign	Het
Rock1	C	T	18: 10,097,599 (GRCm39)	A730T	possibly damaging	Het
Rsl1	C	T	13: 67,330,101 (GRCm39)	T183I	possibly damaging	Het
Scyl3	T	C	1: 163,778,487 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,237,236 (GRCm39)	F116L	probably damaging	Het
Syt5	A	T	7: 4,545,395 (GRCm39)		probably null	Het
Tat	T	C	8: 110,724,200 (GRCm39)	L363P	probably damaging	Het
Ttn	A	G	2: 76,601,316 (GRCm39)	V18719A	possibly damaging	Het
Ube2e2	T	A	14: 18,630,339 (GRCm38)	D107V	probably damaging	Het
Vmn1r64	A	G	7: 5,887,013 (GRCm39)	S177P	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,947 (GRCm39)	W214R	probably damaging	Het
Vmn2r25	A	T	6: 123,800,498 (GRCm39)	F615I	probably damaging	Het
Vmn2r91	G	T	17: 18,356,060 (GRCm39)	V576L	probably benign	Het
Vsig10l	A	C	7: 43,117,431 (GRCm39)	T573P	probably damaging	Het
Wdr93	A	G	7: 79,416,172 (GRCm39)	Q276R	probably null	Het
Zc3h7b	T	C	15: 81,653,354 (GRCm39)	V86A	possibly damaging	Het
Zeb1	T	A	18: 5,761,394 (GRCm39)	Y231N	probably damaging	Het
Zfp407	T	C	18: 84,579,944 (GRCm39)	K390E	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R7107:Rap1gap2	UTSW	11	74,283,945 (GRCm39)	missense	probably damaging	1.00
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'- CTTCATTGACTTCCCAGGGG -3'
(R):5'- ATACCCTTGTTGGCCCTCAG -3'

Sequencing Primer
(F):5'- TCCCAGGGGAAGTTCTTGGC -3'
(R):5'- TGCTATTCATCCATAGTGTCACCAAG -3'

Posted On

2019-09-13