Mutagenetix > Incidental Mutation

Incidental Mutation 'R1469:Asap2'

164778

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

039522-MU

Accession Numbers

Essential gene?

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

Stock #

R1469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21161369-21320172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21263180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 265 (Q265R)

Ref Sequence

ENSEMBL: ENSMUSP00000063217 (fasta)

Gene Model

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

AlphaFold

Q7SIG6

Predicted Effect

probably benign
Transcript: ENSMUST00000050990
AA Change: Q268R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: Q268R

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
AA Change: Q265R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: Q265R

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
AA Change: Q268R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632
AA Change: Q268R

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: Q268R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: Q268R

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

0.0872

Coding Region Coverage

1x: 98.9%
3x: 95.3%
10x: 69.3%
20x: 30.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,039,526 (GRCm39)	V261E	probably damaging	Het
Abca15	A	G	7: 119,981,720 (GRCm39)	E1058G	probably benign	Het
Abcb5	T	G	12: 118,831,681 (GRCm39)	I1224L	possibly damaging	Het
Actn4	A	G	7: 28,604,753 (GRCm39)	V348A	probably benign	Het
Agtr1b	A	T	3: 20,369,664 (GRCm39)	L314H	probably damaging	Het
Ankrd55	T	C	13: 112,504,460 (GRCm39)	M402T	probably benign	Het
Atp2b4	G	A	1: 133,634,677 (GRCm39)	R1124C	probably damaging	Het
Atp2c1	A	T	9: 105,312,351 (GRCm39)	C353*	probably null	Het
Atp8b5	T	A	4: 43,291,733 (GRCm39)		probably null	Het
Baz1b	T	A	5: 135,246,833 (GRCm39)	Y761N	probably damaging	Het
Bend6	A	G	1: 33,903,824 (GRCm39)	V38A	probably benign	Het
Camk1g	T	C	1: 193,044,399 (GRCm39)	E5G	possibly damaging	Het
Ccdc14	T	A	16: 34,527,152 (GRCm39)	H352Q	probably damaging	Het
Cdh2	A	G	18: 16,757,324 (GRCm39)	V641A	possibly damaging	Het
Celsr2	C	A	3: 108,321,424 (GRCm39)	D463Y	probably damaging	Het
Cfap43	A	G	19: 47,885,314 (GRCm39)	Y434H	probably damaging	Het
Cnih2	T	C	19: 5,143,730 (GRCm39)	Y142C	probably damaging	Het
Coa5	T	A	1: 37,459,681 (GRCm39)	R71*	probably null	Het
Csmd3	A	T	15: 47,532,598 (GRCm39)	Y2532*	probably null	Het
Cytl1	A	T	5: 37,892,991 (GRCm39)	M34L	probably benign	Het
Dctn1	T	A	6: 83,169,871 (GRCm39)	I590N	probably damaging	Het
Dhx57	T	C	17: 80,561,847 (GRCm39)	H889R	probably damaging	Het
Dock10	A	G	1: 80,490,275 (GRCm39)	I1948T	probably benign	Het
Dock3	A	T	9: 106,832,908 (GRCm39)	N1034K	probably benign	Het
Dzip1l	G	A	9: 99,541,829 (GRCm39)		probably null	Het
Eif4g1	T	A	16: 20,498,758 (GRCm39)	V439E	possibly damaging	Het
Eml5	T	C	12: 98,825,082 (GRCm39)	I712V	probably benign	Het
Entrep1	G	A	19: 23,950,970 (GRCm39)	T537I	probably benign	Het
Epha3	C	T	16: 63,473,857 (GRCm39)	G300D	probably damaging	Het
Erbb4	A	C	1: 68,599,841 (GRCm39)	S79A	probably damaging	Het
Gclc	T	C	9: 77,688,419 (GRCm39)	V205A	probably benign	Het
Gdpd4	A	G	7: 97,623,673 (GRCm39)		probably null	Het
Gm11564	C	T	11: 99,706,058 (GRCm39)	C124Y	unknown	Het
Gm16494	T	C	17: 47,327,770 (GRCm39)	E38G	probably damaging	Het
Gtf2h1	T	C	7: 46,454,549 (GRCm39)		probably null	Het
Gtsf2	G	T	15: 103,349,644 (GRCm39)	R68S	probably benign	Het
Heatr5b	T	C	17: 79,115,813 (GRCm39)	Q881R	probably damaging	Het
Hmox1	C	A	8: 75,825,463 (GRCm39)	L236I	probably benign	Het
Ighv8-12	T	C	12: 115,611,963 (GRCm39)	I7V	probably benign	Het
Izumo1	T	C	7: 45,272,437 (GRCm39)	S73P	probably damaging	Het
Kifbp	A	T	10: 62,395,229 (GRCm39)	F471Y	probably damaging	Het
Knl1	A	G	2: 118,901,827 (GRCm39)	N1176S	possibly damaging	Het
Mecom	A	T	3: 30,034,197 (GRCm39)	L493Q	probably damaging	Het
Mprip	T	C	11: 59,650,016 (GRCm39)	V1240A	probably damaging	Het
Mrpl3	T	C	9: 104,954,201 (GRCm39)	S302P	probably damaging	Het
Mycbp2	T	C	14: 103,425,956 (GRCm39)	T2390A	probably damaging	Het
Myo1c	T	C	11: 75,560,787 (GRCm39)	S766P	probably damaging	Het
Myo9b	A	G	8: 71,743,680 (GRCm39)	Q247R	probably damaging	Het
Nav3	G	A	10: 109,596,369 (GRCm39)	T1423I	probably damaging	Het
Nefh	A	T	11: 4,890,066 (GRCm39)	I851N	probably benign	Het
Nup98	T	C	7: 101,788,008 (GRCm39)	T1004A	probably benign	Het
Or1e17	T	C	11: 73,831,383 (GRCm39)	F104L	probably benign	Het
Or1e22	G	A	11: 73,377,149 (GRCm39)	S167L	possibly damaging	Het
Or5k8	G	A	16: 58,644,973 (GRCm39)	T33I	probably benign	Het
Or5p76	T	C	7: 108,122,411 (GRCm39)	T249A	probably benign	Het
Osgin1	G	T	8: 120,172,124 (GRCm39)	R306L	possibly damaging	Het
Otof	A	G	5: 30,537,571 (GRCm39)	L1246P	probably benign	Het
Pde8a	T	A	7: 80,952,019 (GRCm39)	N273K	probably damaging	Het
Phf14	T	A	6: 11,933,726 (GRCm39)	M196K	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,585 (GRCm39)	S1374P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,400,282 (GRCm39)	V2142A	probably benign	Het
Plb1	A	G	5: 32,512,170 (GRCm39)	E1318G	possibly damaging	Het
Plekhh2	A	G	17: 84,883,199 (GRCm39)	I756V	probably benign	Het
Primpol	A	G	8: 47,046,672 (GRCm39)	V208A	probably benign	Het
Ptch2	C	A	4: 116,965,662 (GRCm39)	A389E	probably benign	Het
Pzp	A	G	6: 128,489,319 (GRCm39)	Y431H	probably benign	Het
Rnf43	G	A	11: 87,622,233 (GRCm39)	G445R	probably damaging	Het
Scn5a	A	T	9: 119,362,727 (GRCm39)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shisa9	T	A	16: 11,802,935 (GRCm39)	M164K	probably damaging	Het
Skint1	A	G	4: 111,882,708 (GRCm39)	I251V	probably benign	Het
Slc16a14	C	T	1: 84,907,182 (GRCm39)	D31N	probably damaging	Het
Slc22a13	T	C	9: 119,022,361 (GRCm39)	S548G	possibly damaging	Het
Slc4a9	T	C	18: 36,664,154 (GRCm39)	F316L	probably benign	Het
Smchd1	C	T	17: 71,656,725 (GRCm39)	R1914H	probably damaging	Het
Snx16	C	T	3: 10,499,431 (GRCm39)	D200N	probably damaging	Het
Spock3	A	G	8: 63,404,934 (GRCm39)	D34G	probably damaging	Het
Sspo	T	C	6: 48,467,916 (GRCm39)	C4154R	probably damaging	Het
Sytl3	C	T	17: 6,954,723 (GRCm39)	A131V	probably benign	Het
Tacc1	T	A	8: 25,672,271 (GRCm39)	D319V	probably benign	Het
Tead1	A	T	7: 112,475,391 (GRCm39)	K234I	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,618 (GRCm39)	V161I	probably benign	Het
Tnfaip3	A	G	10: 18,884,017 (GRCm39)	V121A	probably damaging	Het
Tnnt2	A	G	1: 135,779,793 (GRCm39)	T297A	possibly damaging	Het
Trappc11	G	A	8: 47,957,000 (GRCm39)	L809F	probably damaging	Het
Ttn	T	C	2: 76,601,869 (GRCm39)	I18598V	probably benign	Het
Ugt1a10	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Unc5a	A	G	13: 55,144,232 (GRCm39)	N186D	probably damaging	Het
Uqcrfs1	C	A	13: 30,724,784 (GRCm39)	G252V	probably damaging	Het
Vmn2r115	T	C	17: 23,564,992 (GRCm39)	I293T	probably damaging	Het
Vmn2r9	T	C	5: 108,991,694 (GRCm39)	T556A	probably benign	Het
Ythdc2	T	A	18: 44,997,529 (GRCm39)	Y1029N	probably benign	Het
Zfp451	T	A	1: 33,808,894 (GRCm39)	K989M	possibly damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGTAGAAAGCCTCAAGCCTTCC -3'
(R):5'- TGATAGACATGGTCCTGTGAGCCC -3'

Sequencing Primer
(F):5'- CTGGAAACGACTGGTGCTTC -3'
(R):5'- CTGTGAGCCCCTGATAGATAC -3'

Posted On

2014-03-28