Mutagenetix > Incidental Mutation

Incidental Mutation 'R1750:Asap2'

193440

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

039782-MU

Accession Numbers

Essential gene?

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

Stock #

R1750 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21161369-21320172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21253999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 170 (L170P)

Ref Sequence

ENSEMBL: ENSMUSP00000063217 (fasta)

Gene Model

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

AlphaFold

Q7SIG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050990
AA Change: L170P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: L170P

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: L170P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: L170P

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

possibly damaging
Transcript: ENSMUST00000090834
AA Change: L170P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632
AA Change: L170P

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

possibly damaging
Transcript: ENSMUST00000101562
AA Change: L170P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: L170P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174530

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	T	7: 130,747,859 (GRCm39)	N44K	probably benign	Het
Acd	C	A	8: 106,425,524 (GRCm39)	A270S	possibly damaging	Het
Acnat1	G	A	4: 49,451,042 (GRCm39)	T23I	probably benign	Het
Adam26a	T	G	8: 44,023,226 (GRCm39)	E88A	possibly damaging	Het
Adgrb1	G	A	15: 74,413,676 (GRCm39)	V589M	probably benign	Het
Agbl2	T	A	2: 90,646,720 (GRCm39)		probably benign	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Btg2	T	C	1: 134,006,769 (GRCm39)	D8G	probably benign	Het
Cacna1g	A	T	11: 94,334,118 (GRCm39)	V841E	probably damaging	Het
Cacna2d1	C	T	5: 16,469,286 (GRCm39)	P230L	probably benign	Het
Cacna2d2	A	T	9: 107,401,843 (GRCm39)	D766V	probably damaging	Het
Carns1	A	G	19: 4,223,156 (GRCm39)	W23R	possibly damaging	Het
Cdk11b	T	A	4: 155,713,137 (GRCm39)		probably null	Het
Chrna3	T	C	9: 54,923,341 (GRCm39)	S156G	probably damaging	Het
Cmya5	A	T	13: 93,232,171 (GRCm39)	N972K	probably benign	Het
Cpne7	C	A	8: 123,861,263 (GRCm39)	P541T	probably damaging	Het
Cracd	A	G	5: 77,005,522 (GRCm39)	I628V	unknown	Het
Csmd1	A	T	8: 15,967,303 (GRCm39)	L3187I	probably damaging	Het
Dbt	A	G	3: 116,339,943 (GRCm39)	I404V	probably benign	Het
Dgki	A	T	6: 36,893,369 (GRCm39)	I819K	probably damaging	Het
Dip2b	T	A	15: 100,076,347 (GRCm39)	S782T	probably benign	Het
Dlc1	A	T	8: 37,325,244 (GRCm39)		probably null	Het
Dnajc13	A	T	9: 104,098,676 (GRCm39)	V459E	probably damaging	Het
Enam	A	G	5: 88,651,086 (GRCm39)	E790G	probably damaging	Het
Epb41l4a	G	C	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Extl1	A	G	4: 134,089,999 (GRCm39)	S370P	probably benign	Het
Fan1	T	C	7: 64,022,761 (GRCm39)	Y164C	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fbxw25	A	T	9: 109,479,141 (GRCm39)	I370N	probably benign	Het
Fcgbp	T	A	7: 27,792,868 (GRCm39)	Y957*	probably null	Het
Gkap1	C	A	13: 58,384,857 (GRCm39)	E77*	probably null	Het
Gkn1	A	T	6: 87,326,105 (GRCm39)	N28K	unknown	Het
Gls2	A	G	10: 128,037,194 (GRCm39)	E245G	probably damaging	Het
Glyat	G	A	19: 12,623,679 (GRCm39)	V32I	probably benign	Het
Gm2431	A	T	7: 141,811,762 (GRCm39)	C47*	probably null	Het
Gm5431	T	C	11: 48,785,658 (GRCm39)	D239G	probably benign	Het
Ift70a1	C	T	2: 75,810,599 (GRCm39)	V495I	probably benign	Het
Inpp5d	T	C	1: 87,626,803 (GRCm39)	F540L	probably damaging	Het
Kcna1	A	C	6: 126,619,771 (GRCm39)	I183S	probably benign	Het
Kpna2	G	T	11: 106,882,271 (GRCm39)	L212I	probably damaging	Het
Krt36	C	G	11: 99,994,884 (GRCm39)	R229S	probably benign	Het
Krt78	G	A	15: 101,854,812 (GRCm39)	H1000Y	probably benign	Het
Krt90	A	G	15: 101,461,800 (GRCm39)		probably benign	Het
Ldlrad4	C	A	18: 68,239,758 (GRCm39)	F59L	probably benign	Het
Lrrc3b	T	C	14: 15,358,601 (GRCm38)	N2D	probably benign	Het
Madd	T	C	2: 90,998,236 (GRCm39)	D239G	probably damaging	Het
Mapk8ip3	C	T	17: 25,133,433 (GRCm39)	G332S	probably null	Het
Mastl	A	T	2: 23,036,093 (GRCm39)	L141*	probably null	Het
Mdh1b	T	C	1: 63,758,681 (GRCm39)	N304D	probably benign	Het
Mfsd4b3-ps	G	T	10: 39,823,929 (GRCm39)	N110K	probably benign	Het
Mtus2	T	C	5: 148,214,443 (GRCm39)	S1035P	probably damaging	Het
Muc21	T	A	17: 35,931,940 (GRCm39)		probably benign	Het
Myh11	T	A	16: 14,018,622 (GRCm39)	D1908V	probably damaging	Het
Myh11	T	C	16: 14,033,654 (GRCm39)	E1080G	probably damaging	Het
Mypn	A	C	10: 62,971,976 (GRCm39)	M688R	probably benign	Het
Nat8l	G	T	5: 34,158,130 (GRCm39)	C180F	probably damaging	Het
Nip7	T	A	8: 107,784,018 (GRCm39)	L86Q	probably damaging	Het
Nisch	C	T	14: 30,896,839 (GRCm39)		probably benign	Het
Nop2	A	G	6: 125,114,601 (GRCm39)	I283V	probably benign	Het
Oas1h	T	A	5: 121,009,840 (GRCm39)		probably null	Het
Or10ag56	T	C	2: 87,139,196 (GRCm39)	V41A	probably benign	Het
Or2g25	A	C	17: 37,970,564 (GRCm39)	I220S	probably damaging	Het
Or4c101	C	A	2: 88,390,402 (GRCm39)	D185E	possibly damaging	Het
Or4c104	T	C	2: 88,586,117 (GRCm39)	R301G	probably benign	Het
Or56b1b	A	T	7: 108,164,564 (GRCm39)	L146*	probably null	Het
Or5w17	T	A	2: 87,583,530 (GRCm39)	D269V	probably damaging	Het
Or8b42	T	A	9: 38,341,986 (GRCm39)	M136K	probably damaging	Het
P4hb	A	G	11: 120,453,546 (GRCm39)	V373A	probably damaging	Het
Pappa2	C	A	1: 158,590,720 (GRCm39)	E1645*	probably null	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb17	C	T	18: 37,618,764 (GRCm39)	R185C	probably damaging	Het
Pcdhb17	A	G	18: 37,620,070 (GRCm39)	H620R	possibly damaging	Het
Pdcl3	T	A	1: 39,034,946 (GRCm39)	F168I	probably damaging	Het
Pde4a	T	A	9: 21,114,528 (GRCm39)	I365N	probably damaging	Het
Pdzd2	A	G	15: 12,385,950 (GRCm39)	V940A	probably damaging	Het
Picalm	T	A	7: 89,840,390 (GRCm39)	S399T	possibly damaging	Het
Pigk	A	T	3: 152,450,101 (GRCm39)	I249F	probably damaging	Het
Plxnb1	C	A	9: 108,940,836 (GRCm39)	H1570Q	probably benign	Het
Plxnc1	A	G	10: 94,635,359 (GRCm39)	Y1321H	probably damaging	Het
Ppm1g	G	A	5: 31,363,560 (GRCm39)	S114F	probably damaging	Het
Rassf4	A	G	6: 116,617,228 (GRCm39)	M259T	probably damaging	Het
Rbm47	T	C	5: 66,176,653 (GRCm39)	K557E	possibly damaging	Het
Rhobtb1	A	G	10: 69,115,236 (GRCm39)	K21R	probably damaging	Het
Selenoi	T	C	5: 30,462,771 (GRCm39)	F212S	probably benign	Het
Shc3	T	G	13: 51,603,328 (GRCm39)	Y259S	probably damaging	Het
Skic3	T	A	13: 76,288,720 (GRCm39)	L951Q	possibly damaging	Het
Slc11a2	T	C	15: 100,299,168 (GRCm39)	N134S	probably damaging	Het
Slc9a7	A	T	X: 20,028,717 (GRCm39)	M368K	probably damaging	Het
Slx4ip	T	A	2: 136,888,669 (GRCm39)	C117S	probably damaging	Het
Spata31d1d	T	A	13: 59,876,509 (GRCm39)	Q342L	probably benign	Het
Spink13	T	A	18: 62,740,820 (GRCm39)	Y93F	probably damaging	Het
St6galnac5	A	T	3: 152,551,958 (GRCm39)	I203N	possibly damaging	Het
Syne2	T	A	12: 76,099,579 (GRCm39)	C5335S	probably damaging	Het
Tagap	T	A	17: 8,148,742 (GRCm39)	D173E	probably benign	Het
Tekt3	A	C	11: 62,960,867 (GRCm39)	Y12S	probably damaging	Het
Tmem81	T	A	1: 132,435,321 (GRCm39)	N42K	probably damaging	Het
Tnc	A	G	4: 63,890,972 (GRCm39)	W1728R	probably damaging	Het
Ttc33	C	T	15: 5,241,579 (GRCm39)	R135*	probably null	Het
Unc5c	A	G	3: 141,533,278 (GRCm39)	D842G	possibly damaging	Het
Usp43	A	T	11: 67,770,779 (GRCm39)	H618Q	probably damaging	Het
Vmn2r50	T	G	7: 9,786,915 (GRCm39)	N64T	possibly damaging	Het
Vmn2r53	T	C	7: 12,315,632 (GRCm39)	Y729C	probably damaging	Het
Vmn2r59	T	A	7: 41,695,251 (GRCm39)	H387L	possibly damaging	Het
Vstm2a	G	T	11: 16,213,166 (GRCm39)	V184F	possibly damaging	Het
Wdr53	T	G	16: 32,070,935 (GRCm39)	N93K	probably damaging	Het
Wdr95	A	G	5: 149,505,351 (GRCm39)		probably null	Het
Xpot	A	T	10: 121,438,932 (GRCm39)		probably null	Het
Xrcc5	C	T	1: 72,364,246 (GRCm39)	Q233*	probably null	Het
Zbtb18	T	A	1: 177,275,077 (GRCm39)	C137S	possibly damaging	Het
Zfp58	C	A	13: 67,639,598 (GRCm39)	G298*	probably null	Het
Zfp963	A	G	8: 70,196,100 (GRCm39)	S118P	possibly damaging	Het
Zmynd15	A	T	11: 70,353,393 (GRCm39)	Q336L	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
R1710:Asap2	UTSW	12	21,274,393 (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'- CAAAAGAGCGTGGCGAGTGTTTATC -3'
(R):5'- GCCACACGCCAGTAAGTAGTCTAAC -3'

Sequencing Primer
(F):5'- GGCCTCTTGATTAATCCCTGCT -3'
(R):5'- GCCAGTAAGTAGTCTAACATTCCTC -3'

Posted On

2014-05-23