Mutagenetix > Incidental Mutations

Incidental Mutation 'R0233:Arap1'

58896

Institutional Source

Beutler Lab

Gene Symbol

Arap1

Ensembl Gene

ENSMUSG00000032812

Gene Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1

Synonyms

Centd2, 2410002L19Rik

MMRRC Submission

038474-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101348067-101412586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101400241 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 970 (S970L)

Ref Sequence

ENSEMBL: ENSMUSP00000102624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084895] [ENSMUST00000084896] [ENSMUST00000098243] [ENSMUST00000107010] [ENSMUST00000155754]

Predicted Effect

probably benign
Transcript: ENSMUST00000084895
AA Change: S722L

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: S722L

Domain	Start	End	E-Value	Type
low complexity region	19	37	N/A	INTRINSIC
PH	82	175	2.62e-17	SMART
PH	195	285	3.6e-6	SMART
ArfGap	289	415	2.4e-22	SMART
PH	498	606	1.23e-13	SMART
PH	616	710	1.08e0	SMART
RhoGAP	722	904	1.35e-63	SMART
Pfam:RA	926	1015	1.5e-10	PFAM
PH	1029	1141	8.58e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084896
AA Change: S970L

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: S970L

Domain	Start	End	E-Value	Type
SAM	3	70	1.72e-7	SMART
low complexity region	92	104	N/A	INTRINSIC
low complexity region	115	126	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC
low complexity region	151	167	N/A	INTRINSIC
low complexity region	197	227	N/A	INTRINSIC
low complexity region	267	285	N/A	INTRINSIC
PH	330	423	2.62e-17	SMART
PH	443	533	3.6e-6	SMART
ArfGap	537	663	2.4e-22	SMART
PH	746	854	1.23e-13	SMART
PH	864	958	1.08e0	SMART
RhoGAP	970	1152	1.35e-63	SMART
Pfam:RA	1174	1263	6.6e-13	PFAM
PH	1277	1400	8e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098243
AA Change: S256L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095844
Gene: ENSMUSG00000032812
AA Change: S256L

Domain	Start	End	E-Value	Type
PH	32	140	1.23e-13	SMART
PH	150	244	1.08e0	SMART
RhoGAP	256	438	1.35e-63	SMART
Pfam:RA	460	549	1.2e-11	PFAM
PH	563	675	8.58e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107010
AA Change: S970L

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: S970L

Domain	Start	End	E-Value	Type
SAM	3	70	1.72e-7	SMART
low complexity region	92	104	N/A	INTRINSIC
low complexity region	115	126	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC
low complexity region	151	167	N/A	INTRINSIC
low complexity region	197	227	N/A	INTRINSIC
low complexity region	267	285	N/A	INTRINSIC
PH	330	423	2.62e-17	SMART
PH	443	533	3.6e-6	SMART
ArfGap	537	663	2.4e-22	SMART
PH	746	854	1.23e-13	SMART
PH	864	958	1.08e0	SMART
RhoGAP	970	1152	1.35e-63	SMART
Pfam:RA	1174	1263	1.9e-10	PFAM
PH	1277	1389	8.58e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153340

Predicted Effect

probably benign
Transcript: ENSMUST00000155754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210162

Meta Mutation Damage Score

0.1047

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,663,373	S212P	probably benign	Het
4932438A13Rik	T	A	3: 36,948,563	C1552*	probably null	Het
A730018C14Rik	A	C	12: 112,415,430		noncoding transcript	Het
Acsf3	A	G	8: 122,780,292	Y108C	probably damaging	Het
Acsl1	A	G	8: 46,513,569		probably benign	Het
Adad1	T	A	3: 37,084,948	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,601,560	L95P	probably damaging	Het
Ano5	T	C	7: 51,535,470	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,915,973	N114S	probably damaging	Het
Atad3a	A	T	4: 155,746,067	S525T	probably damaging	Het
B4galnt1	T	C	10: 127,170,911		probably benign	Het
Cacna2d2	A	T	9: 107,514,670	I463F	probably damaging	Het
Casp6	T	A	3: 129,905,975	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,105,876	F752I	probably benign	Het
Cdhr4	A	G	9: 107,996,934	I76V	probably benign	Het
Copa	T	C	1: 172,087,667		probably null	Het
Cox11	C	T	11: 90,644,500	T259I	probably damaging	Het
Cuzd1	C	A	7: 131,311,816	K357N	possibly damaging	Het
Dnah5	T	A	15: 28,333,070	F2206I	probably damaging	Het
Dnase2b	T	A	3: 146,582,550	K263N	probably benign	Het
Dync1h1	T	A	12: 110,640,980	D2668E	probably benign	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Fam124b	T	C	1: 80,212,986	S227G	probably damaging	Het
Fam13b	T	A	18: 34,448,084	Y675F	probably damaging	Het
Fgf21	T	A	7: 45,615,297	M4L	probably benign	Het
Flg2	T	A	3: 93,201,797	C377*	probably null	Het
Foxp2	T	C	6: 15,409,753	S451P	probably damaging	Het
Gli2	A	T	1: 118,835,925	S1499T	probably damaging	Het
Gm13078	A	T	4: 143,726,063	E21D	possibly damaging	Het
Gm8909	A	G	17: 36,167,469	Y224H	probably benign	Het
Gm9920	A	T	15: 55,112,461		probably benign	Het
Gpx5	T	A	13: 21,287,403	D210V	probably damaging	Het
Hoxb5	T	A	11: 96,305,027	S234T	probably benign	Het
Irf9	C	A	14: 55,606,094	N140K	probably benign	Het
Isg20	C	A	7: 78,916,586	D94E	probably damaging	Het
Isg20	C	T	7: 78,914,495	T50M	probably damaging	Het
Izumo1	T	C	7: 45,624,168	L115P	probably damaging	Het
Kdm3b	G	A	18: 34,809,420	E655K	probably damaging	Het
Kdm5b	T	G	1: 134,604,634		probably benign	Het
Kifc3	A	G	8: 95,101,472		probably null	Het
Kpna2	T	C	11: 106,992,631	S111G	probably benign	Het
Krt73	A	T	15: 101,802,016	N94K	probably benign	Het
Lgmn	G	T	12: 102,399,989	D247E	probably damaging	Het
Lilra6	C	T	7: 3,914,936	V70I	possibly damaging	Het
Lrig3	G	A	10: 126,013,526		probably null	Het
Lrrc4	T	C	6: 28,829,735	H627R	probably benign	Het
Macf1	G	A	4: 123,450,127		probably benign	Het
Nat9	C	A	11: 115,183,408		probably null	Het
Nutm2	A	G	13: 50,467,405	D2G	probably benign	Het
Olfr1151	A	G	2: 87,857,752	I192M	probably benign	Het
Olfr1404	A	T	1: 173,216,301	I217F	probably benign	Het
Olfr191	A	T	16: 59,085,675	D269E	probably benign	Het
Parl	G	A	16: 20,287,907	P184L	probably damaging	Het
Pdzd8	A	T	19: 59,300,379	M863K	probably damaging	Het
Phlda3	T	C	1: 135,766,821	S125P	probably damaging	Het
Pkd1l3	A	T	8: 109,650,780	R217*	probably null	Het
Plekhg5	T	C	4: 152,112,219	C695R	probably damaging	Het
Prg4	T	C	1: 150,453,547		probably benign	Het
Prkab1	A	G	5: 116,021,652		probably benign	Het
Pyroxd1	A	G	6: 142,354,630	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,582,921		probably null	Het
Rgs12	T	A	5: 35,030,498	S500T	probably damaging	Het
Ripor3	T	C	2: 167,992,598	D299G	probably damaging	Het
Robo4	T	C	9: 37,402,681	L76P	probably damaging	Het
Sbno1	T	C	5: 124,376,226	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,823,908	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,980,470	M389L	probably benign	Het
Sfswap	C	A	5: 129,554,543	P745Q	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slitrk3	C	T	3: 73,048,577	S954N	probably benign	Het
Sorbs2	A	G	8: 45,769,829	T190A	probably damaging	Het
Sos2	A	T	12: 69,617,330	I460N	probably benign	Het
Spink7	T	A	18: 62,594,352	I34L	probably benign	Het
Srbd1	A	G	17: 86,057,745	S628P	probably damaging	Het
Srm	G	A	4: 148,593,372	G156S	probably damaging	Het
Sulf2	T	C	2: 166,085,669		probably benign	Het
Tmc4	T	A	7: 3,666,867	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,360,651	F433L	probably damaging	Het
Tmprss13	T	G	9: 45,337,100		probably benign	Het
Tnxb	T	C	17: 34,699,033	F2307L	probably benign	Het
Tsr3	A	G	17: 25,242,510	E274G	probably benign	Het
Ttn	T	C	2: 76,895,144		probably benign	Het
Tub	T	C	7: 109,029,341	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,075,342	I155T	possibly damaging	Het
Ugt2a2	T	C	5: 87,475,001	N36S	probably damaging	Het
Usp13	T	A	3: 32,915,664		probably null	Het
Vmn1r52	T	G	6: 90,179,611	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,054,102	S179T	probably benign	Het
Vwf	A	T	6: 125,686,510	R2805W	possibly damaging	Het
Wdr7	A	G	18: 63,904,101	T1199A	probably benign	Het
Zfp286	T	C	11: 62,780,393	T285A	possibly damaging	Het

Other mutations in Arap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Arap1	APN	7	101388049	missense	probably damaging	0.96
IGL01311:Arap1	APN	7	101388136	nonsense	probably null
IGL01349:Arap1	APN	7	101387152	missense	possibly damaging	0.84
IGL01521:Arap1	APN	7	101400605	critical splice donor site	probably null
IGL01869:Arap1	APN	7	101400283	missense	probably damaging	1.00
IGL02156:Arap1	APN	7	101388730	unclassified	probably benign
IGL02320:Arap1	APN	7	101385029	missense	probably benign
IGL02478:Arap1	APN	7	101400125	splice site	probably null
R0133:Arap1	UTSW	7	101386229	missense	probably damaging	0.98
R0233:Arap1	UTSW	7	101400241	missense	possibly damaging	0.47
R0412:Arap1	UTSW	7	101390222	missense	probably damaging	0.98
R0616:Arap1	UTSW	7	101401650	missense	possibly damaging	0.64
R0838:Arap1	UTSW	7	101400412	missense	probably damaging	1.00
R0962:Arap1	UTSW	7	101384914	missense	possibly damaging	0.56
R1186:Arap1	UTSW	7	101404269	splice site	probably benign
R1405:Arap1	UTSW	7	101398436	splice site	probably null
R1405:Arap1	UTSW	7	101398436	splice site	probably null
R1724:Arap1	UTSW	7	101400526	missense	possibly damaging	0.91
R1793:Arap1	UTSW	7	101388622	missense	probably benign
R1959:Arap1	UTSW	7	101373015	missense	probably damaging	1.00
R1960:Arap1	UTSW	7	101373015	missense	probably damaging	1.00
R2020:Arap1	UTSW	7	101401518	missense	probably benign	0.00
R2128:Arap1	UTSW	7	101409320	missense	probably damaging	1.00
R3737:Arap1	UTSW	7	101400277	missense	possibly damaging	0.85
R3851:Arap1	UTSW	7	101390165	nonsense	probably null
R4034:Arap1	UTSW	7	101400277	missense	possibly damaging	0.85
R4386:Arap1	UTSW	7	101385571	missense	probably benign
R4435:Arap1	UTSW	7	101390254	missense	possibly damaging	0.74
R4779:Arap1	UTSW	7	101404367	missense	probably damaging	1.00
R4786:Arap1	UTSW	7	101385005	missense	possibly damaging	0.94
R4850:Arap1	UTSW	7	101398791	missense	probably damaging	1.00
R4942:Arap1	UTSW	7	101401802	missense	possibly damaging	0.95
R5253:Arap1	UTSW	7	101388644	missense	probably benign	0.00
R5342:Arap1	UTSW	7	101404960	missense	probably benign	0.00
R5367:Arap1	UTSW	7	101409130	missense	probably damaging	0.99
R5397:Arap1	UTSW	7	101384912	missense	possibly damaging	0.95
R5968:Arap1	UTSW	7	101394738	missense	probably damaging	1.00
R6052:Arap1	UTSW	7	101404033	missense	probably damaging	1.00
R6574:Arap1	UTSW	7	101404001	missense	probably damaging	1.00
R6645:Arap1	UTSW	7	101408111	missense	possibly damaging	0.57
R7060:Arap1	UTSW	7	101409357	splice site	probably null
R7191:Arap1	UTSW	7	101384992	missense	probably benign	0.31
R7323:Arap1	UTSW	7	101400211	missense	probably damaging	1.00
R7349:Arap1	UTSW	7	101390228	missense	possibly damaging	0.95
R7516:Arap1	UTSW	7	101409331	missense	probably benign	0.00
R7922:Arap1	UTSW	7	101404414	nonsense	probably null
R8034:Arap1	UTSW	7	101394773	missense	probably damaging	1.00
R8293:Arap1	UTSW	7	101400934	missense	probably benign
R8493:Arap1	UTSW	7	101386518	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTTGAAGTACATCTCAGCAGCCC -3'
(R):5'- TGAGTCTTGGAGGTCTGACCACAC -3'

Sequencing Primer
(F):5'- AGTACATCTCAGCAGCCCTTTAG -3'
(R):5'- GAGGTCTGACCACACTTTCGATAG -3'

Posted On

2013-07-11