Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Asap2'

501620

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

044089-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20990459-21270171 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21218190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 319 (I319N)

Ref Sequence

ENSEMBL: ENSMUSP00000088344 (fasta)

Gene Model

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

AlphaFold

Q7SIG6

PDB Structure

CRYSTAL STRUCTURE OF THE ARF-GAP DOMAIN AND ANKYRIN REPEATS OF PAPBETA. [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050990
AA Change: I319N

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: I319N

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

possibly damaging
Transcript: ENSMUST00000064595
AA Change: I319N

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: I319N

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 damaging
Transcript: ENSMUST00000090834
AA Change: I319N

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

SMART Domains

Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632
AA Change: I319N

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: I322N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: I322N

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

0.3377

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919	I208N	possibly damaging	Het
Atp11b	T	C	3: 35,837,547	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532	F186L	probably benign	Het
C3	T	A	17: 57,214,831	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291		probably null	Het
Chd7	G	A	4: 8,866,382	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234		probably benign	Het
Dlg1	T	C	16: 31,791,886		probably null	Het
Dock3	A	G	9: 107,023,803	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237	V59E	possibly damaging	Het
Eif2ak1	A	G	5: 143,886,915	I393M	probably damaging	Het
Fam83g	A	T	11: 61,702,594	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463		probably null	Het
Gata2	T	C	6: 88,200,740	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401		probably benign	Het
Gm15517	A	T	7: 44,260,642		probably benign	Het
Haus4	T	C	14: 54,544,219	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649	R195L	probably benign	Het
Kcnn2	A	T	18: 45,592,345	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,908,110	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217	F11L	probably benign	Het
Kpna7	A	G	5: 144,989,795	F449S	probably damaging	Het
Krt77	G	T	15: 101,865,453	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515	V1318A	probably damaging	Het
March10	A	T	11: 105,402,146	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,019,512	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059		probably benign	Het
Mmp25	T	C	17: 23,631,074	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723		probably null	Het
Muc5b	T	G	7: 141,858,421	S1701R	unknown	Het
Naalad2	A	T	9: 18,330,641	S656T	probably benign	Het
Ncapd2	T	C	6: 125,187,089	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,425,800	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967	Y259*	probably null	Het
P2rx4	T	A	5: 122,719,165	S155T	probably benign	Het
P2rx4	T	G	5: 122,727,208	Y299D	probably damaging	Het
Pcsk6	A	T	7: 66,043,624	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797		silent	Het
Pfkl	A	G	10: 77,991,370	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314		probably null	Het
Rnf24	A	G	2: 131,322,245		probably benign	Het
Scn3a	A	G	2: 65,497,398	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300	N410K	unknown	Het
Supt20	G	T	3: 54,712,207	W370L	probably benign	Het
Tas2r139	T	A	6: 42,141,496	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627	S32A	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
R1710:Asap2	UTSW	12	21224392	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
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'- TCAGGACTCACAACTTCGCC -3'
(R):5'- GGCAAGGACACAAGTTTCTTAAGG -3'

Sequencing Primer
(F):5'- TACAGCTTACATCAACCTCAGGG -3'
(R):5'- GTTTCTTAAGGGGAAACATTTTGAG -3'

Posted On

2017-12-01