Mutagenetix > Incidental Mutation

Incidental Mutation 'R7082:Rap1gap'

549590

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap

Ensembl Gene

ENSMUSG00000041351

Gene Name

Rap1 GTPase-activating protein

Synonyms

Gap, 1300019I11Rik, 2310004O14Rik, Rap1ga1

MMRRC Submission

045176-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137392037-137457172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137446247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 333 (T333M)

Ref Sequence

ENSEMBL: ENSMUSP00000095448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047243] [ENSMUST00000097837] [ENSMUST00000105835] [ENSMUST00000141306] [ENSMUST00000150928] [ENSMUST00000152567]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047243
AA Change: T366M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042473
Gene: ENSMUSG00000041351
AA Change: T366M

Domain	Start	End	E-Value	Type
GoLoco	59	81	4.94e-10	SMART
Pfam:Rap_GAP	274	461	1.4e-64	PFAM
low complexity region	485	495	N/A	INTRINSIC
low complexity region	630	641	N/A	INTRINSIC
low complexity region	680	695	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097837
AA Change: T333M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095448
Gene: ENSMUSG00000041351
AA Change: T333M

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
GoLoco	26	48	4.94e-10	SMART
Pfam:Rap_GAP	241	428	1.2e-64	PFAM
low complexity region	452	462	N/A	INTRINSIC
low complexity region	597	608	N/A	INTRINSIC
low complexity region	647	662	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105835
AA Change: T366M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101461
Gene: ENSMUSG00000041351
AA Change: T366M

Domain	Start	End	E-Value	Type
GoLoco	59	81	4.94e-10	SMART
Pfam:Rap_GAP	274	455	4.5e-66	PFAM
low complexity region	485	495	N/A	INTRINSIC
low complexity region	630	641	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000141306
AA Change: T22M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122315
Gene: ENSMUSG00000041351
AA Change: T22M

Domain	Start	End	E-Value	Type
Pfam:Rap_GAP	1	117	1.4e-32	PFAM
low complexity region	141	151	N/A	INTRINSIC
low complexity region	312	323	N/A	INTRINSIC
low complexity region	362	377	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150928

SMART Domains

Protein: ENSMUSP00000123561
Gene: ENSMUSG00000041351

Domain	Start	End	E-Value	Type
GoLoco	59	81	4.94e-10	SMART
Pfam:Rap_GAP	199	241	1.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152567

SMART Domains

Protein: ENSMUSP00000115391
Gene: ENSMUSG00000041351

Domain	Start	End	E-Value	Type
GoLoco	47	69	4.94e-10	SMART
PDB:1SRQ\|D	127	165	4e-20	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,260 (GRCm39)	N109Y	unknown	Het
A430005L14Rik	C	T	4: 154,044,221 (GRCm39)	R11W	probably damaging	Het
Aadacl2	T	A	3: 59,932,306 (GRCm39)	S274T	probably damaging	Het
Ahctf1	T	C	1: 179,602,898 (GRCm39)	R887G	probably benign	Het
Aox4	G	T	1: 58,263,352 (GRCm39)	R158L	possibly damaging	Het
Atp10a	T	C	7: 58,308,567 (GRCm39)	I122T	probably damaging	Het
Batf2	G	T	19: 6,221,405 (GRCm39)	A72S	possibly damaging	Het
Bltp3a	G	T	17: 28,109,039 (GRCm39)	R1086L	probably damaging	Het
Bptf	T	C	11: 106,977,573 (GRCm39)	D749G	probably benign	Het
Cacybp	A	G	1: 160,031,229 (GRCm39)	Y200H	probably damaging	Het
Cdc40	A	T	10: 40,743,869 (GRCm39)	V76D	probably benign	Het
Cdc42ep4	T	C	11: 113,619,944 (GRCm39)	D149G	probably benign	Het
Chtop	A	G	3: 90,414,891 (GRCm39)	V9A	probably benign	Het
Cnot9	A	G	1: 74,566,165 (GRCm39)	I185M	probably damaging	Het
Col6a5	A	G	9: 105,808,438 (GRCm39)	I870T	unknown	Het
Cr1l	A	G	1: 194,806,006 (GRCm39)	I159T	probably benign	Het
Cthrc1	T	C	15: 38,940,495 (GRCm39)	S33P	probably benign	Het
Dlg2	T	A	7: 90,381,192 (GRCm39)	W44R	probably benign	Het
Dlgap4	T	C	2: 156,590,342 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,790,096 (GRCm39)	H193R	possibly damaging	Het
Espnl	T	A	1: 91,262,521 (GRCm39)	F322Y	probably benign	Het
Fam171a1	G	A	2: 3,224,512 (GRCm39)	V293I	probably benign	Het
Fam76b	A	G	9: 13,744,308 (GRCm39)	Y135C	probably damaging	Het
Flvcr2	A	T	12: 85,793,728 (GRCm39)	I35F	probably benign	Het
Gm9195	T	A	14: 72,680,152 (GRCm39)	Q2219L	probably benign	Het
Gnptg	T	C	17: 25,453,694 (GRCm39)	T283A	probably benign	Het
Grap2	G	A	15: 80,532,699 (GRCm39)	V289M	probably benign	Het
Hk3	T	C	13: 55,154,710 (GRCm39)	T767A	probably benign	Het
Hs3st5	A	G	10: 36,708,833 (GRCm39)	I123V	probably benign	Het
Il6st	A	G	13: 112,640,566 (GRCm39)	T781A	probably damaging	Het
Inpp5d	T	A	1: 87,623,102 (GRCm39)	H398Q	probably damaging	Het
Kcnk1	A	G	8: 126,722,287 (GRCm39)	Y30C	probably damaging	Het
Klhl6	T	C	16: 19,801,633 (GRCm39)	T41A	probably benign	Het
Krt14	G	A	11: 100,094,167 (GRCm39)	H476Y	possibly damaging	Het
Lingo3	G	C	10: 80,671,625 (GRCm39)	R102G	probably benign	Het
Map3k9	G	A	12: 81,771,476 (GRCm39)	T704M	probably damaging	Het
Mdn1	C	A	4: 32,762,341 (GRCm39)	N5088K	probably benign	Het
Mmp9	T	A	2: 164,790,812 (GRCm39)	S67T	probably benign	Het
Mrps18c	A	G	5: 100,952,270 (GRCm39)	E143G	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Muc21	A	T	17: 35,932,093 (GRCm39)	S698T	unknown	Het
Nags	C	A	11: 102,038,298 (GRCm39)	R335S	possibly damaging	Het
Nars1	A	G	18: 64,637,425 (GRCm39)	V385A	possibly damaging	Het
Nipal2	A	C	15: 34,584,809 (GRCm39)	V253G	possibly damaging	Het
Nos2	C	A	11: 78,819,405 (GRCm39)	T39K	probably benign	Het
Or10p1	T	A	10: 129,443,416 (GRCm39)	*311Y	probably null	Het
Or10p1	T	A	10: 129,443,417 (GRCm39)	*311L	probably null	Het
Or51t4	T	C	7: 102,598,455 (GRCm39)	V261A	probably damaging	Het
Or52s19	C	A	7: 103,007,495 (GRCm39)	R302L	possibly damaging	Het
Or6c66	C	T	10: 129,461,634 (GRCm39)	V99M	probably benign	Het
Or9s15	G	A	1: 92,524,140 (GRCm39)		probably benign	Het
Panx3	G	A	9: 37,577,913 (GRCm39)	P106S	probably benign	Het
Pappa2	G	A	1: 158,590,689 (GRCm39)	T1655I	possibly damaging	Het
Pcdhb1	A	G	18: 37,400,044 (GRCm39)	D665G	probably damaging	Het
Pde2a	T	C	7: 101,157,303 (GRCm39)	L676P	probably damaging	Het
Pf4	A	G	5: 90,920,851 (GRCm39)	T60A	possibly damaging	Het
Pira12	C	T	7: 3,898,510 (GRCm39)	V313M	probably damaging	Het
Pld5	A	T	1: 175,917,442 (GRCm39)	C164S	probably benign	Het
Psd3	A	T	8: 68,356,800 (GRCm39)	M640K	probably benign	Het
Ptf1a	A	G	2: 19,450,676 (GRCm39)	D2G	possibly damaging	Het
Ptprq	C	T	10: 107,544,591 (GRCm39)	C313Y	probably benign	Het
Ranbp10	A	G	8: 106,500,578 (GRCm39)	S467P	probably damaging	Het
Rfpl4	A	G	7: 5,118,558 (GRCm39)	L4P	probably benign	Het
Rgs12	A	G	5: 35,124,050 (GRCm39)	N611S	probably benign	Het
Sacs	C	A	14: 61,447,966 (GRCm39)	N3337K	possibly damaging	Het
Sbno2	A	T	10: 79,895,924 (GRCm39)		probably null	Het
Scrn2	T	A	11: 96,923,908 (GRCm39)	V264E	possibly damaging	Het
Serpinb9c	T	A	13: 33,338,390 (GRCm39)	I198L	probably benign	Het
Shank2	T	C	7: 143,964,096 (GRCm39)	F568S	probably damaging	Het
Slc47a1	C	T	11: 61,268,767 (GRCm39)	R36Q	probably benign	Het
Slc4a8	A	C	15: 100,688,908 (GRCm39)	E406A	probably damaging	Het
Speg	C	T	1: 75,388,091 (GRCm39)	T1483I	probably damaging	Het
Srbd1	A	G	17: 86,365,160 (GRCm39)	V632A	probably damaging	Het
Srd5a2	A	T	17: 74,328,515 (GRCm39)	Y188N	probably damaging	Het
Sspo	A	T	6: 48,455,543 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,136,703 (GRCm39)	D317V	probably benign	Het
Tmco3	G	T	8: 13,370,847 (GRCm39)	E172*	probably null	Het
Trpc4	G	A	3: 54,206,519 (GRCm39)	W573*	probably null	Het
Ttn	T	C	2: 76,580,340 (GRCm39)	I23518V	probably benign	Het
Tubal3	A	G	13: 3,983,050 (GRCm39)	T277A	possibly damaging	Het
Unc5b	A	T	10: 60,610,867 (GRCm39)	L391H	probably damaging	Het
Vmn2r76	A	G	7: 85,874,440 (GRCm39)	F846L	probably benign	Het
Vps13c	T	A	9: 67,790,735 (GRCm39)	Y338N	probably damaging	Het
Zc3hav1	G	T	6: 38,309,328 (GRCm39)	S498*	probably null	Het
Zfand4	T	A	6: 116,305,337 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,811,972 (GRCm39)		probably null	Het
Zfp607a	A	T	7: 27,578,183 (GRCm39)	I418F	probably damaging	Het
Zfp612	A	G	8: 110,816,337 (GRCm39)	T515A	probably damaging	Het
Zfp708	G	T	13: 67,219,200 (GRCm39)	L208I	possibly damaging	Het

Other mutations in Rap1gap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Rap1gap	APN	4	137,443,835 (GRCm39)	missense	probably damaging	0.98
IGL01810:Rap1gap	APN	4	137,443,466 (GRCm39)	missense	probably benign	0.07
IGL01944:Rap1gap	APN	4	137,452,931 (GRCm39)	missense	probably damaging	1.00
IGL02117:Rap1gap	APN	4	137,454,355 (GRCm39)	missense	probably damaging	0.98
IGL02271:Rap1gap	APN	4	137,445,317 (GRCm39)	missense	probably damaging	1.00
IGL02272:Rap1gap	APN	4	137,443,877 (GRCm39)	missense	probably damaging	1.00
IGL02590:Rap1gap	APN	4	137,447,611 (GRCm39)	missense	probably damaging	0.98
IGL02626:Rap1gap	APN	4	137,454,364 (GRCm39)	missense	probably benign	0.00
IGL03211:Rap1gap	APN	4	137,443,157 (GRCm39)	critical splice donor site	probably null
R0243:Rap1gap	UTSW	4	137,446,662 (GRCm39)	missense	probably damaging	0.99
R1239:Rap1gap	UTSW	4	137,445,307 (GRCm39)	missense	probably damaging	1.00
R1246:Rap1gap	UTSW	4	137,439,405 (GRCm39)	missense	possibly damaging	0.86
R2264:Rap1gap	UTSW	4	137,455,034 (GRCm39)	missense	probably benign
R2935:Rap1gap	UTSW	4	137,452,042 (GRCm39)	missense	probably benign	0.19
R3840:Rap1gap	UTSW	4	137,444,758 (GRCm39)	missense	probably damaging	1.00
R3841:Rap1gap	UTSW	4	137,444,758 (GRCm39)	missense	probably damaging	1.00
R4619:Rap1gap	UTSW	4	137,443,422 (GRCm39)	missense	probably damaging	1.00
R4821:Rap1gap	UTSW	4	137,439,440 (GRCm39)	missense	probably damaging	0.99
R4998:Rap1gap	UTSW	4	137,455,595 (GRCm39)	missense	possibly damaging	0.80
R5061:Rap1gap	UTSW	4	137,447,744 (GRCm39)	critical splice donor site	probably null
R5800:Rap1gap	UTSW	4	137,447,688 (GRCm39)	missense	probably benign	0.00
R6259:Rap1gap	UTSW	4	137,409,068 (GRCm39)	critical splice donor site	probably null
R7098:Rap1gap	UTSW	4	137,443,393 (GRCm39)	splice site	probably null
R7234:Rap1gap	UTSW	4	137,455,851 (GRCm39)	nonsense	probably null
R7580:Rap1gap	UTSW	4	137,447,293 (GRCm39)	missense	possibly damaging	0.94
R8097:Rap1gap	UTSW	4	137,455,597 (GRCm39)	missense	probably benign	0.02
R8196:Rap1gap	UTSW	4	137,445,275 (GRCm39)	missense	probably benign	0.07
R8278:Rap1gap	UTSW	4	137,444,748 (GRCm39)	missense	probably damaging	1.00
R9022:Rap1gap	UTSW	4	137,445,309 (GRCm39)	missense	probably damaging	1.00
R9157:Rap1gap	UTSW	4	137,444,742 (GRCm39)	missense	probably damaging	0.99
R9290:Rap1gap	UTSW	4	137,446,222 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGATGTGCTCTCCGCTTGC -3'
(R):5'- AGCCACTGCCCTGAATTTG -3'

Sequencing Primer
(F):5'- GCTTGCTCCACCCCACC -3'
(R):5'- AATTTGCAGGGCGGGGC -3'

Posted On

2019-05-15