Mutagenetix > Incidental Mutations

Incidental Mutation 'R4821:Rap1gap'

370213

Institutional Source

Beutler Lab

Gene Symbol

Rap1gap

Ensembl Gene

ENSMUSG00000041351

Gene Name

Rap1 GTPase-activating protein

Synonyms

1300019I11Rik, 2310004O14Rik, Rap1ga1

MMRRC Submission

042437-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4821 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

137664726-137729861 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137712129 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 126 (S126P)

Ref Sequence

ENSEMBL: ENSMUSP00000115391 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047243
AA Change: S138P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000042473
Gene: ENSMUSG00000041351
AA Change: S138P

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
AA Change: S105P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095448
Gene: ENSMUSG00000041351
AA Change: S105P

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 benign
Transcript: ENSMUST00000105835
AA Change: S138P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101461
Gene: ENSMUSG00000041351
AA Change: S138P

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: ENSMUST00000131536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139831

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 damaging
Transcript: ENSMUST00000152567
AA Change: S126P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115391
Gene: ENSMUSG00000041351
AA Change: S126P

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

0.0976

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (79/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,235,674	K150R	probably damaging	Het
4930430A15Rik	T	C	2: 111,204,145		probably null	Het
Aak1	T	C	6: 86,850,189	V46A	probably damaging	Het
Abcb9	T	C	5: 124,090,149	T10A	probably benign	Het
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam33	G	A	2: 131,061,195	P43L	probably benign	Het
Adamtsl2	T	A	2: 27,098,592		probably null	Het
Akap13	A	G	7: 75,677,507		probably benign	Het
Art1	T	A	7: 102,107,178	L192Q	probably damaging	Het
Baalc	A	G	15: 38,933,180		probably benign	Het
Baz2a	A	G	10: 128,111,109	E164G	probably damaging	Het
Bcs1l	A	G	1: 74,591,985	I391V	probably benign	Het
Cacna1c	T	C	6: 118,696,425	T497A	probably damaging	Het
Cap2	C	A	13: 46,610,110	T164N	probably damaging	Het
Ccdc173	T	C	2: 69,782,108	E96G	possibly damaging	Het
Ccdc57	A	G	11: 120,860,399		probably null	Het
Ccdc88c	T	C	12: 100,938,079	N1120S	probably benign	Het
Chd7	T	A	4: 8,844,706	V1605D	probably damaging	Het
Col12a1	A	T	9: 79,715,340		probably benign	Het
Commd3	T	C	2: 18,672,528	S22P	probably benign	Het
Cpd	T	C	11: 76,846,237	I244V	probably benign	Het
Cpeb2	C	A	5: 43,233,474		probably benign	Het
Cyp2c65	A	G	19: 39,072,191	D165G	probably damaging	Het
Ddx1	T	C	12: 13,239,147	Y152C	probably damaging	Het
Dennd4a	G	A	9: 64,897,249	C1290Y	possibly damaging	Het
Ebf4	G	A	2: 130,307,045	M232I	probably benign	Het
Farp2	A	G	1: 93,574,470		probably null	Het
Frk	T	C	10: 34,484,237	V78A	probably benign	Het
Gm5799	A	G	14: 43,544,641	D90G	probably damaging	Het
Gpr45	C	G	1: 43,030,453		probably benign	Het
Hfm1	C	T	5: 106,854,740		probably null	Het
Igkv4-57-1	T	A	6: 69,544,403	D105V	probably damaging	Het
Impdh2-ps	A	G	8: 100,031,363		noncoding transcript	Het
Kctd4	G	A	14: 75,962,777	V63I	probably benign	Het
Lcn6	T	A	2: 25,680,810	L137M	probably damaging	Het
Lonrf1	T	C	8: 36,219,972	N737D	probably benign	Het
Mcu	C	T	10: 59,467,689	V109M	probably damaging	Het
Mecom	C	A	3: 29,985,351	K186N	probably damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mybpc1	T	C	10: 88,548,865	D533G	probably damaging	Het
Nae1	A	C	8: 104,519,784	C294G	probably damaging	Het
Ncapg2	T	G	12: 116,415,457	H190Q	probably damaging	Het
Nkx2-2	A	T	2: 147,185,843	L59Q	possibly damaging	Het
Nrxn3	C	T	12: 90,204,709	T295I	probably damaging	Het
Obscn	A	T	11: 59,040,467	M5781K	probably damaging	Het
Obscn	C	T	11: 59,006,826		probably benign	Het
Olfr1285	T	C	2: 111,409,225		noncoding transcript	Het
Olfr1427	T	A	19: 12,098,746	M298L	probably benign	Het
Olfr739	A	G	14: 50,424,749	T77A	possibly damaging	Het
Pcdhb6	C	A	18: 37,334,328	P101T	probably damaging	Het
Pot1b	A	G	17: 55,672,885	S324P	possibly damaging	Het
Ppcdc	C	T	9: 57,434,911	V43I	probably benign	Het
Prr13	A	T	15: 102,460,685		probably benign	Het
Rab10os	T	A	12: 3,237,322		noncoding transcript	Het
Rabgap1	T	C	2: 37,532,519	S595P	probably damaging	Het
Rgs6	A	T	12: 83,067,411		probably null	Het
Slc5a6	T	A	5: 31,036,884	K610*	probably null	Het
Sun5	C	T	2: 153,869,466	V27I	probably benign	Het
Tmco5b	T	C	2: 113,289,757	I126T	probably benign	Het
Tmed7	G	A	18: 46,593,413	Q92*	probably null	Het
Trav7d-2	A	G	14: 52,684,428	D98G	probably benign	Het
Trbv16	T	A	6: 41,152,002	L40Q	probably damaging	Het
Ush2a	T	C	1: 188,753,651	V2986A	probably benign	Het
Usp33	T	C	3: 152,358,673	V58A	probably benign	Het
Vmn2r94	T	A	17: 18,257,031	M373L	probably benign	Het
Ywhaq	T	C	12: 21,417,511		probably benign	Het
Zbbx	G	A	3: 75,081,747	H345Y	possibly damaging	Het
Zfp346	G	T	13: 55,113,813		probably benign	Het
Zfp616	C	T	11: 74,084,207	A434V	probably benign	Het
Zfp992	C	T	4: 146,467,519	H566Y	probably damaging	Het

Other mutations in Rap1gap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Rap1gap	APN	4	137716524	missense	probably damaging	0.98
IGL01810:Rap1gap	APN	4	137716155	missense	probably benign	0.07
IGL01944:Rap1gap	APN	4	137725620	missense	probably damaging	1.00
IGL02117:Rap1gap	APN	4	137727044	missense	probably damaging	0.98
IGL02271:Rap1gap	APN	4	137718006	missense	probably damaging	1.00
IGL02272:Rap1gap	APN	4	137716566	missense	probably damaging	1.00
IGL02590:Rap1gap	APN	4	137720300	missense	probably damaging	0.98
IGL02626:Rap1gap	APN	4	137727053	missense	probably benign	0.00
IGL03211:Rap1gap	APN	4	137715846	critical splice donor site	probably null
R0243:Rap1gap	UTSW	4	137719351	missense	probably damaging	0.99
R1239:Rap1gap	UTSW	4	137717996	missense	probably damaging	1.00
R1246:Rap1gap	UTSW	4	137712094	missense	possibly damaging	0.86
R2264:Rap1gap	UTSW	4	137727723	missense	probably benign
R2935:Rap1gap	UTSW	4	137724731	missense	probably benign	0.19
R3840:Rap1gap	UTSW	4	137717447	missense	probably damaging	1.00
R3841:Rap1gap	UTSW	4	137717447	missense	probably damaging	1.00
R4619:Rap1gap	UTSW	4	137716111	missense	probably damaging	1.00
R4998:Rap1gap	UTSW	4	137728284	missense	possibly damaging	0.80
R5061:Rap1gap	UTSW	4	137720433	critical splice donor site	probably null
R5800:Rap1gap	UTSW	4	137720377	missense	probably benign	0.00
R6259:Rap1gap	UTSW	4	137681757	critical splice donor site	probably null
R7082:Rap1gap	UTSW	4	137718936	missense	probably damaging	1.00
R7098:Rap1gap	UTSW	4	137716082	splice site	probably null
R7234:Rap1gap	UTSW	4	137728540	nonsense	probably null
R7580:Rap1gap	UTSW	4	137719982	missense	possibly damaging	0.94
R8097:Rap1gap	UTSW	4	137728286	missense	probably benign	0.02
R8196:Rap1gap	UTSW	4	137717964	missense	probably benign	0.07
R8278:Rap1gap	UTSW	4	137717437	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTAGGACCTCATAGCCCTG -3'
(R):5'- AGACTCAGAATTCTTAGATGCCC -3'

Sequencing Primer
(F):5'- GGCTGTCCAGTGTGTCC -3'
(R):5'- AGAATTCTTAGATGCCCCCTAGC -3'

Posted On

2016-02-04