Mutagenetix > Incidental Mutation

Incidental Mutation 'R6259:Rap1gap'

506539

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap

Ensembl Gene

ENSMUSG00000041351

Gene Name

Rap1 GTPase-activating protein

Synonyms

Gap, 1300019I11Rik, 2310004O14Rik, Rap1ga1

MMRRC Submission

044376-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6259 (G1)

Quality Score

116.008

Status

Validated

Chromosome

Chromosomal Location

137392037-137457172 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 137409068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115391 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000105835

SMART Domains

Protein: ENSMUSP00000101461
Gene: ENSMUSG00000041351

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 null
Transcript: ENSMUST00000105835

SMART Domains

Protein: ENSMUSP00000101461
Gene: ENSMUSG00000041351

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

noncoding transcript
Transcript: ENSMUST00000139831

Predicted Effect

probably null
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 null
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 null
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

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156683

Meta Mutation Damage Score

0.8429

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	A	12: 18,584,120 (GRCm39)	N393K	probably benign	Het
Acap3	A	T	4: 155,980,575 (GRCm39)	I19F	possibly damaging	Het
Acsbg3	A	G	17: 57,184,513 (GRCm39)	Y96C	probably benign	Het
Adamts5	C	T	16: 85,696,641 (GRCm39)	R172H	probably benign	Het
Adgra3	A	G	5: 50,156,483 (GRCm39)	F416L	possibly damaging	Het
Amy1	T	C	3: 113,363,059 (GRCm39)	D96G	possibly damaging	Het
Ank2	A	G	3: 126,810,635 (GRCm39)	S484P	probably benign	Het
Arsa	A	G	15: 89,359,724 (GRCm39)	C68R	probably damaging	Het
Asprv1	A	G	6: 86,605,361 (GRCm39)	Y69C	probably benign	Het
Ass1	A	G	2: 31,378,654 (GRCm39)	E162G	possibly damaging	Het
Atf7	G	T	15: 102,455,673 (GRCm39)	N230K	probably damaging	Het
Atp10b	A	G	11: 43,092,065 (GRCm39)	M367V	probably benign	Het
Atp11b	A	G	3: 35,861,050 (GRCm39)	Y179C	probably damaging	Het
BC004004	A	T	17: 29,517,686 (GRCm39)	Q300L	possibly damaging	Het
Bglap3	A	T	3: 88,276,067 (GRCm39)	I95N	probably damaging	Het
Cacna1h	T	C	17: 25,616,630 (GRCm39)		probably null	Het
Caskin2	C	T	11: 115,691,279 (GRCm39)	G1141D	probably damaging	Het
Clcn4	G	A	7: 7,294,529 (GRCm39)	R351W	possibly damaging	Het
Col11a1	T	C	3: 113,932,096 (GRCm39)	C89R	probably benign	Het
Csrp1	T	G	1: 135,667,252 (GRCm39)		probably null	Het
Cwf19l2	T	C	9: 3,458,879 (GRCm39)	I776T	probably damaging	Het
Cyp2b19	A	T	7: 26,470,817 (GRCm39)	Q486L	possibly damaging	Het
Cyp2j9	T	A	4: 96,472,243 (GRCm39)	Y165F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd1c	G	A	17: 57,374,104 (GRCm39)	R522C	probably damaging	Het
Dmgdh	T	C	13: 93,888,816 (GRCm39)	V818A	probably benign	Het
Dst	T	A	1: 34,221,477 (GRCm39)	V2427E	probably benign	Het
Duox1	C	T	2: 122,175,264 (GRCm39)	T1354M	probably benign	Het
Ehbp1	A	G	11: 22,235,684 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,378,866 (GRCm39)		probably null	Het
Eya2	T	C	2: 165,558,019 (GRCm39)	V205A	probably benign	Het
Fat4	A	G	3: 39,061,395 (GRCm39)	H4326R	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm10100	G	T	10: 77,562,498 (GRCm39)	C60F	possibly damaging	Het
Hhip	T	A	8: 80,699,033 (GRCm39)	R678W	probably damaging	Het
Il21r	T	A	7: 125,229,891 (GRCm39)	I266K	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kif26b	T	C	1: 178,744,970 (GRCm39)	S1689P	probably damaging	Het
L3mbtl2	A	G	15: 81,566,128 (GRCm39)	E317G	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lratd1	T	A	12: 14,200,646 (GRCm39)	D27V	probably damaging	Het
Lrr1	A	G	12: 69,221,589 (GRCm39)	N244D	probably damaging	Het
Lrrk2	A	T	15: 91,586,450 (GRCm39)	H422L	probably benign	Het
Map4k5	A	G	12: 69,899,514 (GRCm39)	S46P	probably damaging	Het
Ngf	A	G	3: 102,417,113 (GRCm39)		probably benign	Het
Nploc4	T	C	11: 120,276,691 (GRCm39)	I452V	probably benign	Het
Oas1d	T	A	5: 121,057,244 (GRCm39)	Y283*	probably null	Het
Or52h1	A	T	7: 103,829,261 (GRCm39)	M118K	possibly damaging	Het
Or56b35	A	T	7: 104,963,264 (GRCm39)	I18F	probably benign	Het
Or5b109	A	G	19: 13,211,785 (GRCm39)	H57R	probably damaging	Het
Or5l13	T	C	2: 87,779,779 (GRCm39)	N266S	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Peg3	A	G	7: 6,712,810 (GRCm39)	V804A	probably damaging	Het
Piezo2	T	A	18: 63,250,749 (GRCm39)	Y450F	possibly damaging	Het
Pprc1	T	A	19: 46,052,849 (GRCm39)	V789E	probably damaging	Het
Prcc	A	G	3: 87,769,454 (GRCm39)	M436T	possibly damaging	Het
Prepl	A	T	17: 85,377,859 (GRCm39)	V507D	probably damaging	Het
Rag1	T	A	2: 101,474,797 (GRCm39)	N115I	possibly damaging	Het
Reln	A	C	5: 22,265,331 (GRCm39)	F454V	probably damaging	Het
Slc39a11	A	T	11: 113,354,780 (GRCm39)	S150T	probably benign	Het
Slc45a1	T	A	4: 150,722,817 (GRCm39)	I356F	possibly damaging	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Stkld1	A	T	2: 26,839,393 (GRCm39)	D353V	possibly damaging	Het
Susd2	T	C	10: 75,473,880 (GRCm39)	S572G	probably damaging	Het
Synrg	T	A	11: 83,899,484 (GRCm39)	D563E	probably damaging	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tnfrsf8	A	G	4: 145,004,094 (GRCm39)		probably null	Het
Trim26	C	T	17: 37,167,110 (GRCm39)	A267V	probably benign	Het
Trpm1	T	G	7: 63,918,226 (GRCm39)	F522C	possibly damaging	Het
Uggt1	T	C	1: 36,273,997 (GRCm39)	I29V	probably benign	Het
Unc5d	C	T	8: 29,156,820 (GRCm39)	M808I	probably benign	Het
Vmn2r108	T	A	17: 20,683,371 (GRCm39)	D611V	possibly damaging	Het
Vps13a	A	C	19: 16,664,534 (GRCm39)	Y1436*	probably null	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Zfp518a	G	T	19: 40,901,225 (GRCm39)	V385F	probably benign	Het
Zfp541	C	T	7: 15,829,451 (GRCm39)	A1222V	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	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
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
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'- AACAAGCGGCCCTTTCTGTG -3'
(R):5'- GCATCCTTTAGTCTCACACGAATG -3'

Sequencing Primer
(F):5'- TTTCTGTGCCGGGACCTCAG -3'
(R):5'- GTCTCACACGAATGTTTATCGACAC -3'

Posted On

2018-03-15