Mutagenetix > Incidental Mutation

Incidental Mutation 'R7098:Rap1gap'

568488

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap

Ensembl Gene

ENSMUSG00000041351

Gene Name

Rap1 GTPase-activating protein

Synonyms

Gap, 1300019I11Rik, 2310004O14Rik, Rap1ga1

MMRRC Submission

045190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137392037-137457172 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 137443393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123561 (fasta)

Gene Model

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

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 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 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 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,644,784 (GRCm39)	M223K	probably benign	Het
Abce1	T	C	8: 80,412,678 (GRCm39)	T550A	probably benign	Het
Acoxl	C	T	2: 127,696,835 (GRCm39)	Q28*	probably null	Het
Adam8	T	C	7: 139,559,412 (GRCm39)	K820R	possibly damaging	Het
Adamts3	G	T	5: 90,009,354 (GRCm39)	A103D	probably damaging	Het
Apba2	T	A	7: 64,386,696 (GRCm39)	V441D	probably damaging	Het
Arap2	A	G	5: 62,833,293 (GRCm39)		probably null	Het
Arhgef10l	T	A	4: 140,308,222 (GRCm39)	M44L	probably benign	Het
Asb4	T	C	6: 5,398,499 (GRCm39)	C155R	probably damaging	Het
Bpifb6	A	T	2: 153,748,810 (GRCm39)	K269*	probably null	Het
Cc2d2a	A	T	5: 43,840,481 (GRCm39)	T161S	probably benign	Het
Ccdc15	T	A	9: 37,255,256 (GRCm39)	Q98L	probably damaging	Het
Col19a1	A	G	1: 24,565,555 (GRCm39)	S259P	unknown	Het
Col5a2	A	T	1: 45,419,227 (GRCm39)	D1284E	possibly damaging	Het
Cyp2c70	T	C	19: 40,168,931 (GRCm39)	T119A	probably benign	Het
Dennd6b	C	T	15: 89,072,890 (GRCm39)	C188Y	probably damaging	Het
Dhx8	T	A	11: 101,628,594 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,340,768 (GRCm39)	K624R	probably benign	Het
Dpys	C	T	15: 39,656,727 (GRCm39)	V447M	probably damaging	Het
E130308A19Rik	T	C	4: 59,753,004 (GRCm39)	S706P	possibly damaging	Het
Esrrb	A	G	12: 86,517,189 (GRCm39)	D107G	probably benign	Het
Frmd4a	T	C	2: 4,577,244 (GRCm39)	S367P	probably damaging	Het
Garin2	G	A	12: 78,766,408 (GRCm39)		probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm136	T	C	4: 34,746,628 (GRCm39)	I128V	probably benign	Het
Gm6525	T	A	3: 84,082,309 (GRCm39)	C77S	possibly damaging	Het
Grid2ip	T	C	5: 143,343,346 (GRCm39)	F14S	probably damaging	Het
Hdhd3	C	T	4: 62,418,152 (GRCm39)	R8H	probably damaging	Het
Kdelr1	C	A	7: 45,523,480 (GRCm39)	A69D	possibly damaging	Het
Krtap16-3	T	A	16: 88,759,560 (GRCm39)	Y51F	unknown	Het
Lrrc40	T	A	3: 157,747,276 (GRCm39)	N129K	probably benign	Het
Man1b1	T	A	2: 25,228,196 (GRCm39)	D155E	probably damaging	Het
Mcm5	T	C	8: 75,847,529 (GRCm39)	V442A	probably damaging	Het
Mfsd14a	C	T	3: 116,435,361 (GRCm39)	A235T	probably benign	Het
Mmp1a	C	A	9: 7,475,938 (GRCm39)	T401K	probably benign	Het
Mpig6b	C	T	17: 35,283,320 (GRCm39)	R196Q	unknown	Het
Mroh1	C	T	15: 76,292,657 (GRCm39)	Q262*	probably null	Het
Msh3	A	T	13: 92,410,619 (GRCm39)	D656E	possibly damaging	Het
Muc4	A	T	16: 32,577,465 (GRCm39)	T252S		Het
Myh15	C	T	16: 48,997,420 (GRCm39)	A1746V	possibly damaging	Het
Myh8	C	A	11: 67,169,879 (GRCm39)	T66K	probably benign	Het
Nemf	A	T	12: 69,359,241 (GRCm39)	Y999N	probably damaging	Het
Neurod1	T	C	2: 79,285,029 (GRCm39)	N118S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,100 (GRCm39)	I134L	possibly damaging	Het
Nsun7	A	T	5: 66,418,326 (GRCm39)	I19F	probably damaging	Het
Ofcc1	A	G	13: 40,157,442 (GRCm39)		probably null	Het
P2rx7	A	G	5: 122,811,856 (GRCm39)	E389G	probably damaging	Het
Pam	C	T	1: 97,826,072 (GRCm39)	R194H	probably benign	Het
Pcnt	A	G	10: 76,220,673 (GRCm39)	S2052P	probably benign	Het
Pfkfb4	T	A	9: 108,828,222 (GRCm39)	Y86N	probably benign	Het
Plcd3	T	A	11: 102,968,689 (GRCm39)	D334V	probably damaging	Het
Ppard	T	C	17: 28,517,787 (GRCm39)	V285A	possibly damaging	Het
Prune2	A	G	19: 17,097,966 (GRCm39)	S1157G	probably benign	Het
Psg21	A	T	7: 18,386,470 (GRCm39)	L172H	probably damaging	Het
Psme4	C	A	11: 30,800,661 (GRCm39)	T1417K	probably damaging	Het
Ptprc	T	C	1: 138,027,423 (GRCm39)	D336G	probably benign	Het
Ralgapa1	A	T	12: 55,837,095 (GRCm39)		probably null	Het
Scap	T	C	9: 110,201,310 (GRCm39)	S100P	possibly damaging	Het
Scpep1	T	C	11: 88,820,011 (GRCm39)	I426V	possibly damaging	Het
Sdk1	T	C	5: 142,082,625 (GRCm39)	I1341T	probably damaging	Het
Sfmbt2	T	A	2: 10,584,000 (GRCm39)	Y786N	probably benign	Het
Sh3tc1	A	T	5: 35,859,358 (GRCm39)		probably null	Het
Slc5a5	T	A	8: 71,341,182 (GRCm39)	I386F	probably damaging	Het
Smarca4	T	G	9: 21,546,116 (GRCm39)	M98R	probably benign	Het
St18	G	A	1: 6,898,066 (GRCm39)	D623N	probably damaging	Het
Sult2a1	A	T	7: 13,549,978 (GRCm39)		probably null	Het
Tgfb2	C	T	1: 186,362,834 (GRCm39)	R330H	probably damaging	Het
Thoc3	A	G	13: 54,614,119 (GRCm39)	I168T	probably damaging	Het
Tmem126a	C	T	7: 90,100,062 (GRCm39)	M160I	possibly damaging	Het
Tmem200b	C	T	4: 131,649,704 (GRCm39)	P208L	probably benign	Het
Tnrc6c	T	C	11: 117,604,952 (GRCm39)	V29A	probably benign	Het
Tsc1	C	T	2: 28,565,744 (GRCm39)	S465F	probably benign	Het
Ttll5	A	G	12: 85,964,447 (GRCm39)		probably null	Het
Unc13d	G	T	11: 115,954,552 (GRCm39)	L1019I	probably damaging	Het
Vmn2r102	A	T	17: 19,914,670 (GRCm39)	H745L	probably damaging	Het
Wars2	T	G	3: 99,123,957 (GRCm39)	S273A	probably damaging	Het
Xrcc6	C	A	15: 81,919,955 (GRCm39)	S498*	probably null	Het
Ybx1	A	T	4: 119,140,050 (GRCm39)	N92K	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
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'- ATGTCATCGGGGATCAGGAG -3'
(R):5'- CTCAGAATGGAGCTCGGAGAAC -3'

Sequencing Primer
(F):5'- CACCTGCGGCTGTTGCTTAG -3'
(R):5'- ACACATGCAGGTACCCAGGG -3'

Posted On

2019-08-09