Mutagenetix > Incidental Mutation

Incidental Mutation 'R7234:Rap1gap'

562686

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap

Ensembl Gene

ENSMUSG00000041351

Gene Name

Rap1 GTPase-activating protein

Synonyms

Gap, 1300019I11Rik, 2310004O14Rik, Rap1ga1

MMRRC Submission

045304-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137392037-137457172 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 137455851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 722 (C722*)

Ref Sequence

ENSEMBL: ENSMUSP00000101461 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047243

SMART Domains

Protein: ENSMUSP00000042473
Gene: ENSMUSG00000041351

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 benign
Transcript: ENSMUST00000097837

SMART Domains

Protein: ENSMUSP00000095448
Gene: ENSMUSG00000041351

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 null
Transcript: ENSMUST00000105835
AA Change: C722*

SMART Domains

Protein: ENSMUSP00000101461
Gene: ENSMUSG00000041351
AA Change: C722*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	T	A	19: 4,037,758 (GRCm39)	Y88*	probably null	Het
AI606181	T	A	19: 41,582,076 (GRCm39)	I82N	unknown	Het
Akap1	T	C	11: 88,729,808 (GRCm39)	Y638C	probably damaging	Het
Angpt1	T	C	15: 42,323,121 (GRCm39)	N383D	probably benign	Het
Ank	T	C	15: 27,571,742 (GRCm39)		probably null	Het
Aoc1	C	T	6: 48,882,750 (GRCm39)	Q209*	probably null	Het
Apol7c	A	T	15: 77,409,875 (GRCm39)	L357*	probably null	Het
Atxn2l	A	G	7: 126,092,373 (GRCm39)	L958P	probably damaging	Het
Cab39l	T	A	14: 59,734,395 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,295,024 (GRCm39)		probably null	Het
Cdkn3	T	C	14: 47,008,918 (GRCm39)	S204P	unknown	Het
Cds2	T	C	2: 132,146,400 (GRCm39)		probably null	Het
Cideb	C	T	14: 55,992,017 (GRCm39)	R179H	probably benign	Het
Cped1	A	G	6: 22,254,625 (GRCm39)	Q1006R	probably damaging	Het
Csmd2	A	G	4: 128,350,572 (GRCm39)	Y1547C		Het
Dicer1	A	G	12: 104,675,108 (GRCm39)	L718S	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dyrk2	T	C	10: 118,696,136 (GRCm39)	H374R	possibly damaging	Het
Edem2	A	T	2: 155,552,886 (GRCm39)	Y283N	probably benign	Het
Ero1b	A	T	13: 12,615,203 (GRCm39)	S345C	possibly damaging	Het
Fam83g	T	C	11: 61,593,342 (GRCm39)	V292A	possibly damaging	Het
Farp2	A	G	1: 93,507,841 (GRCm39)	D513G	possibly damaging	Het
Fbxl5	A	G	5: 43,915,562 (GRCm39)	W617R	probably benign	Het
Fzd7	G	A	1: 59,522,443 (GRCm39)	V109M	probably damaging	Het
Gbp5	A	T	3: 142,226,898 (GRCm39)	H583L	probably benign	Het
Gm10306	T	A	4: 94,445,032 (GRCm39)	L84M	unknown	Het
Gsap	A	G	5: 21,391,433 (GRCm39)	T25A	probably benign	Het
Hectd4	G	T	5: 121,467,136 (GRCm39)	R2466L	possibly damaging	Het
Ide	C	A	19: 37,268,184 (GRCm39)	C557F		Het
Ift70a2	A	T	2: 75,806,540 (GRCm39)	Y657*	probably null	Het
Igdcc4	T	A	9: 65,042,750 (GRCm39)	C1234*	probably null	Het
Ints4	A	G	7: 97,179,507 (GRCm39)	I701V	probably benign	Het
Kalrn	T	A	16: 33,996,792 (GRCm39)	I1467F	possibly damaging	Het
Kcnip3	C	A	2: 127,363,256 (GRCm39)	R2M	unknown	Het
Kcnrg	A	T	14: 61,845,531 (GRCm39)	E190D	unknown	Het
Klk13	T	C	7: 43,370,841 (GRCm39)	L131P	probably damaging	Het
Lhcgr	A	T	17: 89,099,359 (GRCm39)	L14Q	possibly damaging	Het
Mdm4	A	T	1: 132,938,853 (GRCm39)	D80E	probably damaging	Het
Mib2	G	T	4: 155,742,350 (GRCm39)	Q311K	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mycbp2	A	T	14: 103,452,773 (GRCm39)	S1703T	probably damaging	Het
Naip6	A	T	13: 100,452,011 (GRCm39)	C200*	probably null	Het
Ncapd3	T	A	9: 26,961,655 (GRCm39)	I361N	probably damaging	Het
Nom1	A	G	5: 29,640,451 (GRCm39)	E259G	probably benign	Het
Or10j5	T	A	1: 172,784,673 (GRCm39)	F104I	probably damaging	Het
Or51v14	A	G	7: 103,261,089 (GRCm39)	L157P	probably damaging	Het
Plxna2	A	T	1: 194,488,698 (GRCm39)	H1658L	probably damaging	Het
Ranbp6	T	C	19: 29,789,462 (GRCm39)	T297A	possibly damaging	Het
Ribc2	A	G	15: 85,019,733 (GRCm39)	K172E	probably benign	Het
Scamp5	C	A	9: 57,354,423 (GRCm39)	W77L	probably damaging	Het
Scin	T	A	12: 40,130,957 (GRCm39)	K319*	probably null	Het
Sec16a	G	T	2: 26,329,780 (GRCm39)	T745K	probably damaging	Het
Slc15a2	G	A	16: 36,578,173 (GRCm39)	A403V	probably benign	Het
Slco6c1	A	G	1: 97,053,466 (GRCm39)	V145A	probably benign	Het
Sncaip	C	T	18: 53,048,416 (GRCm39)	H951Y	probably benign	Het
Spem1	A	G	11: 69,712,630 (GRCm39)		probably null	Het
Spen	C	T	4: 141,206,446 (GRCm39)	R727Q	unknown	Het
Thra	T	C	11: 98,654,544 (GRCm39)	S305P	probably damaging	Het
Tlr1	A	G	5: 65,084,067 (GRCm39)	V170A	probably damaging	Het
Tmem260	T	A	14: 48,742,786 (GRCm39)	C388*	probably null	Het
Tmem60	T	A	5: 21,091,619 (GRCm39)	V128D	possibly damaging	Het
Tpo	G	A	12: 30,142,685 (GRCm39)	P680S	probably benign	Het
Umodl1	A	G	17: 31,205,595 (GRCm39)	E730G	possibly damaging	Het
Vmn2r69	T	C	7: 85,056,315 (GRCm39)	T608A	probably benign	Het
Xrra1	G	A	7: 99,563,456 (GRCm39)	S481N	possibly damaging	Het
Zc3h4	G	A	7: 16,162,961 (GRCm39)	V446I	unknown	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
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'- TGGAAACATCTGAGCAGCAC -3'
(R):5'- AGAGTTGAGGCAGCACTGTG -3'

Sequencing Primer
(F):5'- GCACACACCCCAGATGGTAC -3'
(R):5'- CACTGTGTGCCCACTGC -3'

Posted On

2019-06-26