Mutagenetix > Incidental Mutation

Incidental Mutation 'R9157:Rap1gap'

695423

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap

Ensembl Gene

ENSMUSG00000041351

Gene Name

Rap1 GTPase-activating protein

Synonyms

Gap, 1300019I11Rik, 2310004O14Rik, Rap1ga1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137392037-137457172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 137444742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 219 (V219F)

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: V252F

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

SMART Domains

Protein: ENSMUSP00000042473
Gene: ENSMUSG00000041351
AA Change: V252F

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: V219F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095448
Gene: ENSMUSG00000041351
AA Change: V219F

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: V252F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101461
Gene: ENSMUSG00000041351
AA Change: V252F

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 benign
Transcript: ENSMUST00000141306

SMART Domains

Protein: ENSMUSP00000122315
Gene: ENSMUSG00000041351

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 damaging
Transcript: ENSMUST00000150928
AA Change: V177F

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

SMART Domains

Protein: ENSMUSP00000123561
Gene: ENSMUSG00000041351
AA Change: V177F

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: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Adam9	A	T	8: 25,493,331 (GRCm39)	F92L	probably damaging	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Aff3	A	C	1: 38,249,559 (GRCm39)	I516S	probably benign	Het
Bdp1	C	T	13: 100,186,436 (GRCm39)	S1672N	probably benign	Het
Btc	A	T	5: 91,513,980 (GRCm39)	I94N	probably damaging	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Ccdc47	A	T	11: 106,093,208 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,493,419 (GRCm39)	Y814F	possibly damaging	Het
Celsr3	A	T	9: 108,707,185 (GRCm39)	R1223W	probably damaging	Het
Cenpc1	A	G	5: 86,166,316 (GRCm39)	M779T	probably benign	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Depdc5	T	C	5: 33,102,452 (GRCm39)	I986T	probably damaging	Het
Dhx40	A	T	11: 86,662,050 (GRCm39)	I669N	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dzip3	C	T	16: 48,748,124 (GRCm39)	G918D	probably benign	Het
Fam185a	T	G	5: 21,660,837 (GRCm39)	V284G	probably damaging	Het
Fhod3	T	C	18: 25,218,651 (GRCm39)	S805P	probably damaging	Het
Filip1l	A	G	16: 57,391,980 (GRCm39)	N856S	probably benign	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Gm9195	A	G	14: 72,692,038 (GRCm39)	I1616T	unknown	Het
Grm4	T	A	17: 27,653,956 (GRCm39)	I665F	probably benign	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hic1	A	G	11: 75,057,053 (GRCm39)	L612P	possibly damaging	Het
Hmcn1	A	C	1: 150,522,343 (GRCm39)	V3519G	probably benign	Het
Hmgcs1	A	G	13: 120,165,963 (GRCm39)	Y360C	probably benign	Het
Hspa12a	A	T	19: 58,789,292 (GRCm39)	M448K	possibly damaging	Het
Htt	T	G	5: 34,987,171 (GRCm39)	I1130S	probably null	Het
Irx3	A	G	8: 92,527,694 (GRCm39)	Y59H	probably damaging	Het
Klc4	A	G	17: 46,950,361 (GRCm39)	L280P	probably damaging	Het
Lrp1	G	T	10: 127,410,209 (GRCm39)	N1512K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Marco	T	C	1: 120,421,814 (GRCm39)	E130G	probably damaging	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Msi2	A	C	11: 88,608,889 (GRCm39)	S10A	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Ngfr	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 95,478,316 (GRCm39)		probably benign	Het
Nradd	A	G	9: 110,451,188 (GRCm39)	L60P	probably damaging	Het
Nup188	A	G	2: 30,188,456 (GRCm39)	Y39C	probably benign	Het
Odf2	G	T	2: 29,816,815 (GRCm39)	G754C	probably benign	Het
Or10a2	A	T	7: 106,673,214 (GRCm39)	M60L	probably damaging	Het
Or12d15	A	G	17: 37,694,183 (GRCm39)	M242V	probably benign	Het
Or13d1	A	G	4: 52,971,419 (GRCm39)	Y266C	possibly damaging	Het
Or4b1	A	G	2: 89,979,522 (GRCm39)	I276T	possibly damaging	Het
Osbpl6	C	T	2: 76,382,468 (GRCm39)	P222S	probably benign	Het
Pcdhga3	T	C	18: 37,809,229 (GRCm39)	Y561H	probably benign	Het
Phykpl	G	A	11: 51,490,375 (GRCm39)	V419I	probably benign	Het
Pskh1	A	G	8: 106,640,142 (GRCm39)	Y274C	possibly damaging	Het
Rapgef4	C	A	2: 72,005,212 (GRCm39)	H220N	probably benign	Het
Rcor3	G	T	1: 191,810,181 (GRCm39)	H165Q	possibly damaging	Het
Reg3d	T	C	6: 78,354,422 (GRCm39)	T60A	possibly damaging	Het
Rgs9	T	A	11: 109,116,549 (GRCm39)	D644V	probably damaging	Het
Rhob	T	A	12: 8,549,319 (GRCm39)	H105L	probably benign	Het
Rph3a	T	C	5: 121,101,892 (GRCm39)	K115E	probably damaging	Het
Rsf1	GG	GGGGACGGCCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,058,013 (GRCm39)	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,231,672 (GRCm39)	I103T	probably damaging	Het
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Slc15a1	T	C	14: 121,702,389 (GRCm39)	I586V	probably benign	Het
Slc15a5	A	T	6: 137,961,456 (GRCm39)	V213E		Het
Stard13	C	A	5: 151,157,152 (GRCm39)	A10S	probably benign	Het
Taf6	C	A	5: 138,179,221 (GRCm39)	V406F	possibly damaging	Het
Tap2	G	T	17: 34,431,004 (GRCm39)	R368L	possibly damaging	Het
Tmem236	T	C	2: 14,223,889 (GRCm39)	V226A	probably benign	Het
Tmem87a	T	A	2: 120,210,093 (GRCm39)	I287F	possibly damaging	Het
Ttll13	A	T	7: 79,904,428 (GRCm39)	K351I	possibly damaging	Het
Ttn	T	A	2: 76,581,245 (GRCm39)	Y23216F	probably damaging	Het
Vmn2r27	T	C	6: 124,201,244 (GRCm39)	T238A	probably benign	Het
Vmn2r54	T	C	7: 12,366,055 (GRCm39)	Y293C	possibly damaging	Het
Vsig10l	T	C	7: 43,112,948 (GRCm39)	S69P		Het
Wdr83	G	A	8: 85,806,432 (GRCm39)	T122I	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp354a	C	T	11: 50,960,788 (GRCm39)	S332F	probably damaging	Het
Zfp354b	T	C	11: 50,813,887 (GRCm39)	N346S	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
R7082:Rap1gap	UTSW	4	137,446,247 (GRCm39)	missense	probably damaging	1.00
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
R9290:Rap1gap	UTSW	4	137,446,222 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAAGCCTTTGAAAGCGAGG -3'
(R):5'- GTTCTTCCTCAGAGGTCTGGAG -3'

Sequencing Primer
(F):5'- CGAGGGGCTGGGGAAGG -3'
(R):5'- CAGAGTGGCCATGAGCAGTC -3'

Posted On

2022-01-20