Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01355:Asap2'

75509

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asap2

Ensembl Gene

ENSMUSG00000052632

Gene Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain 2

Synonyms

6530401G17Rik, LOC385250, Ddef2

Accession Numbers

Essential gene?

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

Stock #

IGL01355

Quality Score

Status

Chromosome

Chromosomal Location

21161369-21320172 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 21268087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099098 (fasta)

Gene Model

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

AlphaFold

Q7SIG6

Predicted Effect

probably benign
Transcript: ENSMUST00000050990

SMART Domains

Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632

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 benign
Transcript: ENSMUST00000064595

SMART Domains

Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632

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

SMART Domains

Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632

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

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	C	T	4: 153,470,938 (GRCm39)	V290I	probably damaging	Het
Ankrd12	A	G	17: 66,277,335 (GRCm39)		probably benign	Het
Anxa4	A	T	6: 86,729,187 (GRCm39)	I140N	probably damaging	Het
Cd36	C	T	5: 18,018,072 (GRCm39)	V214I	possibly damaging	Het
Col24a1	T	C	3: 145,020,637 (GRCm39)	L336S	probably benign	Het
Dcc	C	T	18: 71,942,185 (GRCm39)	V311I	probably benign	Het
Gpr146	A	T	5: 139,364,659 (GRCm39)		probably benign	Het
Irf1	T	C	11: 53,665,187 (GRCm39)	V188A	probably benign	Het
Limk1	G	A	5: 134,686,754 (GRCm39)		probably benign	Het
Mcidas	T	C	13: 113,135,603 (GRCm39)	F342S	probably damaging	Het
Mctp1	A	G	13: 76,533,074 (GRCm39)	T141A	probably benign	Het
Mnd1	C	A	3: 84,023,784 (GRCm39)	A101S	probably benign	Het
Nsun7	T	C	5: 66,452,211 (GRCm39)	S466P	probably damaging	Het
Or2m13	C	T	16: 19,226,333 (GRCm39)	M145I	probably benign	Het
Or4g16	T	A	2: 111,137,438 (GRCm39)	I296K	probably benign	Het
Or52z12	A	G	7: 103,233,580 (GRCm39)	E117G	probably damaging	Het
Pik3c2g	G	T	6: 139,798,583 (GRCm39)	G371V	probably damaging	Het
Sdad1	A	G	5: 92,450,538 (GRCm39)	V199A	probably damaging	Het
Spg11	C	T	2: 121,943,637 (GRCm39)	V172I	probably benign	Het
Tas2r108	A	G	6: 40,470,685 (GRCm39)	T54A	possibly damaging	Het
Tmem121b	A	G	6: 120,469,427 (GRCm39)	L430P	probably damaging	Het
Traf3ip1	A	G	1: 91,446,019 (GRCm39)	D384G	probably damaging	Het
Trank1	A	G	9: 111,194,588 (GRCm39)	T871A	possibly damaging	Het
Vegfa	T	C	17: 46,336,347 (GRCm39)	M258V	possibly damaging	Het
Zbtb49	A	G	5: 38,367,960 (GRCm39)		probably null	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
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
R1710:Asap2	UTSW	12	21,274,393 (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

Posted On

2013-10-07