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

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21161369-21320172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21274393 bp (GRCm39)

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: 70,601,134 (GRCm39)	S249R	possibly damaging	Het
Acadvl	T	A	11: 69,901,181 (GRCm39)	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587 (GRCm39)	T264S	probably benign	Het
Acrv1	C	T	9: 36,605,551 (GRCm39)	Q33*	probably null	Het
Actrt3	T	A	3: 30,653,901 (GRCm39)	N33I	probably damaging	Het
Alyref2	T	C	1: 171,331,168 (GRCm39)		probably benign	Het
Ank2	C	A	3: 126,726,709 (GRCm39)	E3712*	probably null	Het
Ano7	C	A	1: 93,313,346 (GRCm39)	H161Q	probably benign	Het
Arhgap10	C	A	8: 78,085,216 (GRCm39)	E451*	probably null	Het
Arhgap29	T	A	3: 121,801,729 (GRCm39)	Y748N	probably damaging	Het
Arhgap45	C	T	10: 79,853,932 (GRCm39)	Q149*	probably null	Het
Atp6v1b1	T	C	6: 83,735,372 (GRCm39)	I480T	probably benign	Het
BC034090	T	C	1: 155,101,610 (GRCm39)	D218G	possibly damaging	Het
Brdt	A	T	5: 107,491,450 (GRCm39)	D74V	probably damaging	Het
C4b	A	G	17: 34,962,638 (GRCm39)		probably benign	Het
Card11	T	A	5: 140,888,660 (GRCm39)	K233*	probably null	Het
Catip	T	G	1: 74,401,929 (GRCm39)	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,648,647 (GRCm39)	G247R	probably damaging	Het
Cep97	T	A	16: 55,735,385 (GRCm39)	D471V	probably damaging	Het
Col17a1	A	T	19: 47,659,370 (GRCm39)	L403Q	probably damaging	Het
Crbn	A	G	6: 106,767,906 (GRCm39)	S194P	possibly damaging	Het
Degs1l	A	G	1: 180,878,884 (GRCm39)	M1V	probably null	Het
Dennd10	A	G	19: 60,806,021 (GRCm39)	Y102C	probably damaging	Het
Dhx58	T	A	11: 100,594,400 (GRCm39)	H97L	probably benign	Het
Dnah8	T	C	17: 31,073,914 (GRCm39)	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,404,092 (GRCm39)		probably null	Het
Entpd1	A	T	19: 40,714,680 (GRCm39)	Q263L	probably benign	Het
Entrep1	A	T	19: 23,957,059 (GRCm39)	I317N	probably damaging	Het
Esyt3	T	C	9: 99,218,244 (GRCm39)	I130M	probably benign	Het
Etv1	T	C	12: 38,902,261 (GRCm39)	F264S	probably benign	Het
Fat1	T	C	8: 45,463,519 (GRCm39)	S1354P	probably benign	Het
Fat4	C	A	3: 39,005,304 (GRCm39)	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,010,586 (GRCm39)	V351I	probably damaging	Het
Fmo3	A	G	1: 162,795,356 (GRCm39)	F160L	possibly damaging	Het
Fyb2	T	A	4: 104,861,113 (GRCm39)	D592E	probably damaging	Het
Gjb4	T	C	4: 127,245,663 (GRCm39)	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,673,566 (GRCm39)	G52*	probably null	Het
Gm6401	G	T	14: 41,788,840 (GRCm39)	N76K	probably benign	Het
Gm6871	A	G	7: 41,195,901 (GRCm39)	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,240,081 (GRCm39)	V301G	probably benign	Het
H2bw2	A	C	X: 135,828,216 (GRCm39)	D35A	unknown	Het
Hfm1	A	G	5: 107,028,380 (GRCm39)	F817L	probably damaging	Het
Hfm1	T	C	5: 107,043,869 (GRCm39)	E589G	probably damaging	Het
Hivep2	A	T	10: 14,005,249 (GRCm39)	K616*	probably null	Het
Hmcn1	A	T	1: 150,551,735 (GRCm39)	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,082,565 (GRCm39)	A339E	probably damaging	Het
Insyn2b	T	A	11: 34,354,263 (GRCm39)		probably null	Het
Irx4	T	C	13: 73,415,757 (GRCm39)	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511 (GRCm39)	S758P	probably damaging	Het
Klhdc4	A	T	8: 122,526,226 (GRCm39)	Y304*	probably null	Het
Lama1	A	G	17: 68,060,786 (GRCm39)	I705V	probably benign	Het
Mbd5	A	G	2: 49,147,044 (GRCm39)	N418S	probably benign	Het
Mmp21	C	T	7: 133,279,014 (GRCm39)	V279I	probably damaging	Het
Morc4	A	C	X: 138,755,279 (GRCm39)	C272W	probably damaging	Het
Mrm1	A	T	11: 84,709,518 (GRCm39)	C180S	probably damaging	Het
Ncor1	T	C	11: 62,313,831 (GRCm39)	D103G	probably damaging	Het
Ndrg4	A	G	8: 96,437,314 (GRCm39)	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,035,522 (GRCm39)	V246A	possibly damaging	Het
Noa1	T	C	5: 77,457,572 (GRCm39)	E111G	possibly damaging	Het
Nod1	C	A	6: 54,921,044 (GRCm39)	V425F	probably damaging	Het
Nos1	A	T	5: 118,033,984 (GRCm39)	I369F	probably damaging	Het
Nsun5	C	T	5: 135,400,170 (GRCm39)	H98Y	probably damaging	Het
Optn	G	A	2: 5,057,941 (GRCm39)	T76I	possibly damaging	Het
Or14c39	G	A	7: 86,344,318 (GRCm39)	R218H	probably benign	Het
Or4k15c	C	G	14: 50,321,827 (GRCm39)	V104L	probably benign	Het
Or5k1b	A	G	16: 58,581,504 (GRCm39)	F12L	probably benign	Het
Or8d1b	A	G	9: 38,887,202 (GRCm39)	I77V	probably damaging	Het
Or8g28	T	C	9: 39,169,867 (GRCm39)	I37V	probably benign	Het
Or9g19	C	T	2: 85,600,199 (GRCm39)	T18I	probably benign	Het
Oscar	C	T	7: 3,614,855 (GRCm39)	W22*	probably null	Het
Palmd	T	A	3: 116,717,306 (GRCm39)	Y397F	probably damaging	Het
Plk1	A	G	7: 121,768,121 (GRCm39)	D447G	probably damaging	Het
Plscr5	T	A	9: 92,087,581 (GRCm39)	N183K	probably damaging	Het
Polk	T	G	13: 96,625,712 (GRCm39)	D364A	probably damaging	Het
Polr3d	T	C	14: 70,680,450 (GRCm39)	T36A	probably benign	Het
Ppp1r10	A	T	17: 36,237,428 (GRCm39)	R199S	probably damaging	Het
Prkcz	C	T	4: 155,346,969 (GRCm39)	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,102,234 (GRCm39)	L769P	probably damaging	Het
Psg26	A	G	7: 18,213,966 (GRCm39)	V232A	probably damaging	Het
Pth2r	T	C	1: 65,375,997 (GRCm39)	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,566,494 (GRCm39)		probably benign	Het
Reps1	A	T	10: 17,994,698 (GRCm39)	D514V	possibly damaging	Het
Riok3	G	T	18: 12,276,018 (GRCm39)	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,353 (GRCm39)	Q569R	probably damaging	Het
Rorb	G	A	19: 18,937,865 (GRCm39)	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,340 (GRCm39)	M70K	probably damaging	Het
Rsf1	A	T	7: 97,311,556 (GRCm39)	E762V	possibly damaging	Het
S100a2	G	A	3: 90,498,699 (GRCm39)	V67I	probably benign	Het
Skp1	T	A	11: 52,133,442 (GRCm39)	D42E	probably benign	Het
Slc22a4	A	T	11: 53,918,801 (GRCm39)	M1K	probably null	Het
Slc2a9	T	A	5: 38,539,387 (GRCm39)	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,665,075 (GRCm39)	T475A	probably benign	Het
Slc8b1	A	G	5: 120,657,717 (GRCm39)	N60S	probably damaging	Het
Slx4	A	C	16: 3,817,022 (GRCm39)	D66E	probably benign	Het
Smg8	A	T	11: 86,977,113 (GRCm39)	I156N	probably damaging	Het
Snx25	A	T	8: 46,569,244 (GRCm39)	C218S	possibly damaging	Het
Sulf2	T	C	2: 165,920,992 (GRCm39)	I784V	probably benign	Het
Tatdn2	G	T	6: 113,674,888 (GRCm39)	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,445,918 (GRCm39)	D91G	possibly damaging	Het
Tifab	C	A	13: 56,324,433 (GRCm39)	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,200,304 (GRCm39)	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,334,343 (GRCm39)	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,369,667 (GRCm39)	D367E	probably damaging	Het
Txlnb	A	G	10: 17,719,203 (GRCm39)	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,934,895 (GRCm39)		probably null	Het
Vmn2r124	A	T	17: 18,282,187 (GRCm39)		probably benign	Het
Vmn2r2	T	C	3: 64,024,820 (GRCm39)	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Vps13c	T	A	9: 67,818,811 (GRCm39)	S1077R	probably benign	Het
Vsig10	C	T	5: 117,489,719 (GRCm39)	A495V	probably benign	Het
Vwa3a	A	T	7: 120,403,254 (GRCm39)		probably null	Het
Zfhx2	C	A	14: 55,303,455 (GRCm39)	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,611,389 (GRCm39)	D601V	probably damaging	Het
Zfp62	T	C	11: 49,108,510 (GRCm39)	I867T	probably benign	Het

Other mutations in Asap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Asap2	APN	12	21,289,649 (GRCm39)	missense	possibly damaging	0.66
IGL01140:Asap2	APN	12	21,256,317 (GRCm39)	missense	probably damaging	1.00
IGL01285:Asap2	APN	12	21,279,264 (GRCm39)	missense	probably damaging	1.00
IGL01318:Asap2	APN	12	21,297,296 (GRCm39)	missense	probably null	0.00
IGL01355:Asap2	APN	12	21,268,087 (GRCm39)	splice site	probably benign
IGL01593:Asap2	APN	12	21,263,203 (GRCm39)	missense	probably null	0.03
IGL01705:Asap2	APN	12	21,299,369 (GRCm39)	missense	possibly damaging	0.85
IGL01716:Asap2	APN	12	21,304,307 (GRCm39)	missense	possibly damaging	0.94
IGL02822:Asap2	APN	12	21,315,911 (GRCm39)	missense	probably damaging	1.00
IGL02876:Asap2	APN	12	21,308,164 (GRCm39)	missense	probably benign	0.00
IGL02991:Asap2	APN	12	21,299,294 (GRCm39)	splice site	probably benign
R0157:Asap2	UTSW	12	21,256,326 (GRCm39)	missense	probably damaging	1.00
R0399:Asap2	UTSW	12	21,267,998 (GRCm39)	missense	possibly damaging	0.90
R0472:Asap2	UTSW	12	21,263,186 (GRCm39)	missense	possibly damaging	0.47
R0959:Asap2	UTSW	12	21,297,320 (GRCm39)	missense	probably damaging	1.00
R0981:Asap2	UTSW	12	21,315,961 (GRCm39)	missense	probably damaging	0.98
R1141:Asap2	UTSW	12	21,235,111 (GRCm39)	missense	probably damaging	1.00
R1382:Asap2	UTSW	12	21,315,955 (GRCm39)	missense	probably damaging	1.00
R1418:Asap2	UTSW	12	21,289,590 (GRCm39)	missense	probably damaging	1.00
R1418:Asap2	UTSW	12	21,289,586 (GRCm39)	missense	probably damaging	1.00
R1469:Asap2	UTSW	12	21,263,180 (GRCm39)	missense	probably benign	0.00
R1469:Asap2	UTSW	12	21,263,180 (GRCm39)	missense	probably benign	0.00
R1526:Asap2	UTSW	12	21,235,188 (GRCm39)	missense	probably damaging	1.00
R1542:Asap2	UTSW	12	21,315,998 (GRCm39)	missense	probably damaging	1.00
R1750:Asap2	UTSW	12	21,253,999 (GRCm39)	missense	probably damaging	1.00
R2151:Asap2	UTSW	12	21,162,084 (GRCm39)	missense	probably damaging	1.00
R2152:Asap2	UTSW	12	21,162,084 (GRCm39)	missense	probably damaging	1.00
R2154:Asap2	UTSW	12	21,162,084 (GRCm39)	missense	probably damaging	1.00
R2323:Asap2	UTSW	12	21,253,969 (GRCm39)	missense	probably damaging	1.00
R2378:Asap2	UTSW	12	21,304,319 (GRCm39)	missense	possibly damaging	0.95
R3151:Asap2	UTSW	12	21,274,378 (GRCm39)	missense	probably damaging	1.00
R3757:Asap2	UTSW	12	21,317,767 (GRCm39)	missense	probably damaging	1.00
R4305:Asap2	UTSW	12	21,279,482 (GRCm39)	missense	probably damaging	1.00
R4307:Asap2	UTSW	12	21,279,482 (GRCm39)	missense	probably damaging	1.00
R4308:Asap2	UTSW	12	21,279,482 (GRCm39)	missense	probably damaging	1.00
R4345:Asap2	UTSW	12	21,280,832 (GRCm39)	missense	probably damaging	1.00
R4525:Asap2	UTSW	12	21,279,293 (GRCm39)	splice site	probably null
R4562:Asap2	UTSW	12	21,162,094 (GRCm39)	missense	probably damaging	1.00
R4999:Asap2	UTSW	12	21,302,766 (GRCm39)	missense	probably benign	0.19
R5027:Asap2	UTSW	12	21,254,082 (GRCm39)	missense	probably damaging	1.00
R5221:Asap2	UTSW	12	21,263,191 (GRCm39)	missense	probably benign	0.14
R5645:Asap2	UTSW	12	21,315,983 (GRCm39)	missense	probably damaging	0.99
R5799:Asap2	UTSW	12	21,218,247 (GRCm39)	missense	probably damaging	1.00
R5876:Asap2	UTSW	12	21,262,810 (GRCm39)	missense	possibly damaging	0.88
R5888:Asap2	UTSW	12	21,268,191 (GRCm39)	missense	probably damaging	1.00
R5912:Asap2	UTSW	12	21,256,344 (GRCm39)	missense	probably damaging	1.00
R6576:Asap2	UTSW	12	21,294,704 (GRCm39)	missense	probably damaging	1.00
R6896:Asap2	UTSW	12	21,315,526 (GRCm39)	missense	probably damaging	1.00
R6934:Asap2	UTSW	12	21,218,251 (GRCm39)	missense	probably damaging	1.00
R7134:Asap2	UTSW	12	21,315,964 (GRCm39)	nonsense	probably null
R7347:Asap2	UTSW	12	21,279,458 (GRCm39)	missense	probably benign	0.03
R7378:Asap2	UTSW	12	21,162,052 (GRCm39)	missense	probably benign	0.01
R7515:Asap2	UTSW	12	21,279,240 (GRCm39)	missense	possibly damaging	0.76
R8033:Asap2	UTSW	12	21,274,390 (GRCm39)	missense	probably damaging	1.00
R8793:Asap2	UTSW	12	21,218,212 (GRCm39)	missense	probably damaging	1.00
R8891:Asap2	UTSW	12	21,162,144 (GRCm39)	missense	probably damaging	1.00
R8972:Asap2	UTSW	12	21,279,249 (GRCm39)	missense	probably damaging	1.00
R9021:Asap2	UTSW	12	21,253,999 (GRCm39)	missense	possibly damaging	0.94
R9216:Asap2	UTSW	12	21,263,191 (GRCm39)	missense	probably benign	0.14
R9323:Asap2	UTSW	12	21,162,148 (GRCm39)	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