Mutagenetix > Incidental Mutation

Incidental Mutation 'R1710:Asap2'

190473

Institutional Source

Beutler Lab

Gene Symbol

Asap2

Ensembl Gene

ENSMUSG00000052632

Gene Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain 2

Synonyms

6530401G17Rik, LOC385250, Ddef2

MMRRC Submission

039743-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R1710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20990459-21270171 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21224392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 371 (H371Y)

Ref Sequence

ENSEMBL: ENSMUSP00000054631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050990] [ENSMUST00000064595] [ENSMUST00000090834] [ENSMUST00000101562]

AlphaFold

Q7SIG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000050990
AA Change: H371Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: H371Y

Domain	Start	End	E-Value	Type
low complexity region	127	144	N/A	INTRINSIC
low complexity region	154	166	N/A	INTRINSIC
PH	306	399	2.31e-18	SMART
ArfGap	421	541	6.82e-27	SMART
ANK	584	616	6.17e-1	SMART
ANK	620	649	4.03e-5	SMART
ANK	653	683	1.48e3	SMART
low complexity region	693	707	N/A	INTRINSIC
low complexity region	765	789	N/A	INTRINSIC
low complexity region	827	847	N/A	INTRINSIC
SH3	896	954	4.28e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000064595
AA Change: H371Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: H371Y

Domain	Start	End	E-Value	Type
Pfam:BAR	11	247	2.4e-9	PFAM
Pfam:BAR_3	31	265	3.3e-28	PFAM
PH	306	399	2.31e-18	SMART
ArfGap	421	541	6.82e-27	SMART
ANK	584	616	6.17e-1	SMART
ANK	620	649	4.03e-5	SMART
ANK	653	683	1.48e3	SMART
low complexity region	693	707	N/A	INTRINSIC
low complexity region	765	789	N/A	INTRINSIC
low complexity region	837	849	N/A	INTRINSIC
low complexity region	872	892	N/A	INTRINSIC
SH3	941	999	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090834

SMART Domains

Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632

Domain	Start	End	E-Value	Type
low complexity region	127	144	N/A	INTRINSIC
low complexity region	154	166	N/A	INTRINSIC
Blast:PH	196	318	1e-50	BLAST
Blast:ArfGap	334	395	5e-30	BLAST
ANK	438	470	6.17e-1	SMART
ANK	474	503	4.03e-5	SMART
ANK	507	537	1.48e3	SMART
low complexity region	547	561	N/A	INTRINSIC
low complexity region	619	643	N/A	INTRINSIC
low complexity region	681	701	N/A	INTRINSIC
SH3	750	808	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101562
AA Change: H374Y

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: H374Y

Domain	Start	End	E-Value	Type
low complexity region	127	144	N/A	INTRINSIC
low complexity region	154	166	N/A	INTRINSIC
PH	309	402	2.31e-18	SMART
ArfGap	424	544	6.82e-27	SMART
ANK	587	619	6.17e-1	SMART
ANK	623	652	4.03e-5	SMART
ANK	656	686	1.48e3	SMART
low complexity region	696	710	N/A	INTRINSIC
low complexity region	768	792	N/A	INTRINSIC
low complexity region	830	850	N/A	INTRINSIC
SH3	899	957	4.28e-16	SMART

Meta Mutation Damage Score

0.1237

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. 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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,468,063	S249R	possibly damaging	Het
9130409I23Rik	A	G	1: 181,051,319	M1V	probably null	Het
Acadvl	T	A	11: 70,010,355	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587	T264S	probably benign	Het
Acrv1	C	T	9: 36,694,255	Q33*	probably null	Het
Actrt3	T	A	3: 30,599,752	N33I	probably damaging	Het
Alyref2	T	C	1: 171,503,600		probably benign	Het
Ank2	C	A	3: 126,933,060	E3712*	probably null	Het
Ano7	C	A	1: 93,385,624	H161Q	probably benign	Het
Arhgap10	C	A	8: 77,358,587	E451*	probably null	Het
Arhgap29	T	A	3: 122,008,080	Y748N	probably damaging	Het
Arhgap45	C	T	10: 80,018,098	Q149*	probably null	Het
Atp6v1b1	T	C	6: 83,758,390	I480T	probably benign	Het
BC034090	T	C	1: 155,225,864	D218G	possibly damaging	Het
Brdt	A	T	5: 107,343,584	D74V	probably damaging	Het
C4b	A	G	17: 34,743,664		probably benign	Het
Card11	T	A	5: 140,902,905	K233*	probably null	Het
Catip	T	G	1: 74,362,770	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,819,581	G247R	probably damaging	Het
Cep97	T	A	16: 55,915,022	D471V	probably damaging	Het
Col17a1	A	T	19: 47,670,931	L403Q	probably damaging	Het
Crbn	A	G	6: 106,790,945	S194P	possibly damaging	Het
Dhx58	T	A	11: 100,703,574	H97L	probably benign	Het
Dnah8	T	C	17: 30,854,940	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,610,443		probably null	Het
Entpd1	A	T	19: 40,726,236	Q263L	probably benign	Het
Esyt3	T	C	9: 99,336,191	I130M	probably benign	Het
Etv1	T	C	12: 38,852,262	F264S	probably benign	Het
Fam189a2	A	T	19: 23,979,695	I317N	probably damaging	Het
Fam196b	T	A	11: 34,404,263		probably null	Het
Fam45a	A	G	19: 60,817,583	Y102C	probably damaging	Het
Fat1	T	C	8: 45,010,482	S1354P	probably benign	Het
Fat4	C	A	3: 38,951,155	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,181,518	V351I	probably damaging	Het
Fmo3	A	G	1: 162,967,787	F160L	possibly damaging	Het
Fyb2	T	A	4: 105,003,916	D592E	probably damaging	Het
Gjb4	T	C	4: 127,351,870	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,436,154	G52*	probably null	Het
Gm6401	G	T	14: 41,966,883	N76K	probably benign	Het
Gm6871	A	G	7: 41,546,477	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,211,240	V301G	probably benign	Het
H2bfm	A	C	X: 136,927,467	D35A	unknown	Het
Hfm1	A	G	5: 106,880,514	F817L	probably damaging	Het
Hfm1	T	C	5: 106,896,003	E589G	probably damaging	Het
Hivep2	A	T	10: 14,129,505	K616*	probably null	Het
Hmcn1	A	T	1: 150,675,984	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,105,631	A339E	probably damaging	Het
Irx4	T	C	13: 73,267,638	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511	S758P	probably damaging	Het
Klhdc4	A	T	8: 121,799,487	Y304*	probably null	Het
Lama1	A	G	17: 67,753,791	I705V	probably benign	Het
Mbd5	A	G	2: 49,257,032	N418S	probably benign	Het
Mmp21	C	T	7: 133,677,285	V279I	probably damaging	Het
Morc4	A	C	X: 139,854,530	C272W	probably damaging	Het
Mrm1	A	T	11: 84,818,692	C180S	probably damaging	Het
Ncor1	T	C	11: 62,423,005	D103G	probably damaging	Het
Ndrg4	A	G	8: 95,710,686	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,193,602	V246A	possibly damaging	Het
Noa1	T	C	5: 77,309,725	E111G	possibly damaging	Het
Nod1	C	A	6: 54,944,059	V425F	probably damaging	Het
Nos1	A	T	5: 117,895,919	I369F	probably damaging	Het
Nsun5	C	T	5: 135,371,316	H98Y	probably damaging	Het
Olfr1013	C	T	2: 85,769,855	T18I	probably benign	Het
Olfr172	A	G	16: 58,761,141	F12L	probably benign	Het
Olfr292	G	A	7: 86,695,110	R218H	probably benign	Het
Olfr726	C	G	14: 50,084,370	V104L	probably benign	Het
Olfr933	A	G	9: 38,975,906	I77V	probably damaging	Het
Olfr945	T	C	9: 39,258,571	I37V	probably benign	Het
Optn	G	A	2: 5,053,130	T76I	possibly damaging	Het
Oscar	C	T	7: 3,611,856	W22*	probably null	Het
Palmd	T	A	3: 116,923,657	Y397F	probably damaging	Het
Plk1	A	G	7: 122,168,898	D447G	probably damaging	Het
Plscr5	T	A	9: 92,205,528	N183K	probably damaging	Het
Polk	T	G	13: 96,489,204	D364A	probably damaging	Het
Polr3d	T	C	14: 70,443,010	T36A	probably benign	Het
Ppp1r10	A	T	17: 35,926,536	R199S	probably damaging	Het
Prkcz	C	T	4: 155,262,512	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,212,222	L769P	probably damaging	Het
Psg26	A	G	7: 18,480,041	V232A	probably damaging	Het
Pth2r	T	C	1: 65,336,838	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,659,212		probably benign	Het
Reps1	A	T	10: 18,118,950	D514V	possibly damaging	Het
Riok3	G	T	18: 12,142,961	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,207	Q569R	probably damaging	Het
Rorb	G	A	19: 18,960,501	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,096	M70K	probably damaging	Het
Rsf1	A	T	7: 97,662,349	E762V	possibly damaging	Het
S100a2	G	A	3: 90,591,392	V67I	probably benign	Het
Skp1a	T	A	11: 52,242,615	D42E	probably benign	Het
Slc22a4	A	T	11: 54,027,975	M1K	probably null	Het
Slc2a9	T	A	5: 38,382,044	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,532,022	T475A	probably benign	Het
Slc8b1	A	G	5: 120,519,652	N60S	probably damaging	Het
Slx4	A	C	16: 3,999,158	D66E	probably benign	Het
Smg8	A	T	11: 87,086,287	I156N	probably damaging	Het
Snx25	A	T	8: 46,116,207	C218S	possibly damaging	Het
Sulf2	T	C	2: 166,079,072	I784V	probably benign	Het
Tatdn2	G	T	6: 113,697,927	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,406,837	D91G	possibly damaging	Het
Tifab	C	A	13: 56,176,620	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,292,883	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,443,517	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,403,408	D367E	probably damaging	Het
Txlnb	A	G	10: 17,843,455	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,957,934		probably null	Het
Vmn2r124	A	T	17: 18,061,925		probably benign	Het
Vmn2r2	T	C	3: 64,117,399	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,391,099	A290V	probably benign	Het
Vps13c	T	A	9: 67,911,529	S1077R	probably benign	Het
Vsig10	C	T	5: 117,351,654	A495V	probably benign	Het
Vwa3a	A	T	7: 120,804,031		probably null	Het
Zfhx2	C	A	14: 55,065,998	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,572,230	D601V	probably damaging	Het
Zfp62	T	C	11: 49,217,683	I867T	probably benign	Het

Other mutations in Asap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Asap2	APN	12	21239648	missense	possibly damaging	0.66
IGL01140:Asap2	APN	12	21206316	missense	probably damaging	1.00
IGL01285:Asap2	APN	12	21229263	missense	probably damaging	1.00
IGL01318:Asap2	APN	12	21247295	missense	probably null	0.00
IGL01355:Asap2	APN	12	21218086	splice site	probably benign
IGL01593:Asap2	APN	12	21213202	missense	probably null	0.03
IGL01705:Asap2	APN	12	21249368	missense	possibly damaging	0.85
IGL01716:Asap2	APN	12	21254306	missense	possibly damaging	0.94
IGL02822:Asap2	APN	12	21265910	missense	probably damaging	1.00
IGL02876:Asap2	APN	12	21258163	missense	probably benign	0.00
IGL02991:Asap2	APN	12	21249293	splice site	probably benign
R0157:Asap2	UTSW	12	21206325	missense	probably damaging	1.00
R0399:Asap2	UTSW	12	21217997	missense	possibly damaging	0.90
R0472:Asap2	UTSW	12	21213185	missense	possibly damaging	0.47
R0959:Asap2	UTSW	12	21247319	missense	probably damaging	1.00
R0981:Asap2	UTSW	12	21265960	missense	probably damaging	0.98
R1141:Asap2	UTSW	12	21185110	missense	probably damaging	1.00
R1382:Asap2	UTSW	12	21265954	missense	probably damaging	1.00
R1418:Asap2	UTSW	12	21239585	missense	probably damaging	1.00
R1418:Asap2	UTSW	12	21239589	missense	probably damaging	1.00
R1469:Asap2	UTSW	12	21213179	missense	probably benign	0.00
R1469:Asap2	UTSW	12	21213179	missense	probably benign	0.00
R1526:Asap2	UTSW	12	21185187	missense	probably damaging	1.00
R1542:Asap2	UTSW	12	21265997	missense	probably damaging	1.00
R1750:Asap2	UTSW	12	21203998	missense	probably damaging	1.00
R2151:Asap2	UTSW	12	21112083	missense	probably damaging	1.00
R2152:Asap2	UTSW	12	21112083	missense	probably damaging	1.00
R2154:Asap2	UTSW	12	21112083	missense	probably damaging	1.00
R2323:Asap2	UTSW	12	21203968	missense	probably damaging	1.00
R2378:Asap2	UTSW	12	21254318	missense	possibly damaging	0.95
R3151:Asap2	UTSW	12	21224377	missense	probably damaging	1.00
R3757:Asap2	UTSW	12	21267766	missense	probably damaging	1.00
R4305:Asap2	UTSW	12	21229481	missense	probably damaging	1.00
R4307:Asap2	UTSW	12	21229481	missense	probably damaging	1.00
R4308:Asap2	UTSW	12	21229481	missense	probably damaging	1.00
R4345:Asap2	UTSW	12	21230831	missense	probably damaging	1.00
R4525:Asap2	UTSW	12	21229292	splice site	probably null
R4562:Asap2	UTSW	12	21112093	missense	probably damaging	1.00
R4999:Asap2	UTSW	12	21252765	missense	probably benign	0.19
R5027:Asap2	UTSW	12	21204081	missense	probably damaging	1.00
R5221:Asap2	UTSW	12	21213190	missense	probably benign	0.14
R5645:Asap2	UTSW	12	21265982	missense	probably damaging	0.99
R5799:Asap2	UTSW	12	21168246	missense	probably damaging	1.00
R5876:Asap2	UTSW	12	21212809	missense	possibly damaging	0.88
R5888:Asap2	UTSW	12	21218190	missense	probably damaging	1.00
R5912:Asap2	UTSW	12	21206343	missense	probably damaging	1.00
R6576:Asap2	UTSW	12	21244703	missense	probably damaging	1.00
R6896:Asap2	UTSW	12	21265525	missense	probably damaging	1.00
R6934:Asap2	UTSW	12	21168250	missense	probably damaging	1.00
R7134:Asap2	UTSW	12	21265963	nonsense	probably null
R7347:Asap2	UTSW	12	21229457	missense	probably benign	0.03
R7378:Asap2	UTSW	12	21112051	missense	probably benign	0.01
R7515:Asap2	UTSW	12	21229239	missense	possibly damaging	0.76
R8033:Asap2	UTSW	12	21224389	missense	probably damaging	1.00
R8793:Asap2	UTSW	12	21168211	missense	probably damaging	1.00
R8891:Asap2	UTSW	12	21112143	missense	probably damaging	1.00
R8972:Asap2	UTSW	12	21229248	missense	probably damaging	1.00
R9021:Asap2	UTSW	12	21203998	missense	possibly damaging	0.94
R9216:Asap2	UTSW	12	21213190	missense	probably benign	0.14
R9323:Asap2	UTSW	12	21112147	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTGTGTGTCCCATCCCTGGAAAC -3'
(R):5'- TGGCTTCAAAGGCCAAGTCTAACC -3'

Sequencing Primer
(F):5'- GTCCCATCCCTGGAAACCTTATG -3'
(R):5'- AAGATAAGAGGCAGATCActggc -3'

Posted On

2014-05-14