Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Asap2'

441090

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

043293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5645 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

20990459-21270171 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21265982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 967 (V967E)

Ref Sequence

ENSEMBL: ENSMUSP00000063217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050990] [ENSMUST00000064595] [ENSMUST00000076260] [ENSMUST00000090834] [ENSMUST00000101562] [ENSMUST00000173729] [ENSMUST00000232072]

AlphaFold

Q7SIG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000050990
AA Change: V922E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: V922E

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: V967E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: V967E

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: ENSMUST00000076260

SMART Domains

Protein: ENSMUSP00000075609
Gene: ENSMUSG00000062352

Domain	Start	End	E-Value	Type
low complexity region	4	29	N/A	INTRINSIC
PTB	58	200	1.42e-22	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000090834
AA Change: V776E

SMART Domains

Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632
AA Change: V776E

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 damaging
Transcript: ENSMUST00000101562
AA Change: V925E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: V925E

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

probably benign
Transcript: ENSMUST00000173688

SMART Domains

Protein: ENSMUSP00000133557
Gene: ENSMUSG00000062352

Domain	Start	End	E-Value	Type
Pfam:ICAP-1_inte_bdg	1	79	1.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173729

SMART Domains

Protein: ENSMUSP00000134627
Gene: ENSMUSG00000062352

Domain	Start	End	E-Value	Type
low complexity region	4	29	N/A	INTRINSIC
PTB	58	200	1.42e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000232072

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,397,204	I169V	probably damaging	Het
2310007B03Rik	T	C	1: 93,152,946	T413A	probably damaging	Het
4930503B20Rik	C	T	3: 146,650,509	E215K	probably damaging	Het
5830411N06Rik	G	A	7: 140,248,940	V171I	possibly damaging	Het
Abca6	T	C	11: 110,250,408	E29G	probably damaging	Het
Acsm1	A	G	7: 119,640,697	H288R	probably damaging	Het
Adamts12	A	G	15: 11,277,420	T707A	possibly damaging	Het
Adcy2	C	A	13: 68,729,202		probably null	Het
Agbl4	A	T	4: 111,657,330	I513F	possibly damaging	Het
Ak5	A	T	3: 152,656,033	M84K	possibly damaging	Het
Akap1	T	C	11: 88,845,627	T103A	probably benign	Het
Akap9	A	G	5: 4,050,590	T2751A	probably benign	Het
Amer3	A	T	1: 34,588,381	H567L	possibly damaging	Het
Ano6	A	G	15: 95,920,351	Y325C	probably benign	Het
Apba2	A	G	7: 64,695,806	E248G	possibly damaging	Het
Boc	A	G	16: 44,499,661	V320A	probably damaging	Het
Car13	T	A	3: 14,645,120	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,552,356	T1976A	probably benign	Het
Cep295	A	T	9: 15,332,794	H1455Q	probably damaging	Het
Cep295	C	A	9: 15,335,108	S684I	possibly damaging	Het
Cr2	G	T	1: 195,154,273	H861N	probably damaging	Het
Cul5	T	C	9: 53,622,943	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,994,152	V145I	probably benign	Het
Dnmt1	G	A	9: 20,922,147	T500M	probably damaging	Het
Fam161a	T	A	11: 23,015,725	I6N	probably damaging	Het
Fam214a	T	A	9: 75,025,679	V976E	probably damaging	Het
Fry	T	C	5: 150,380,867	V574A	probably damaging	Het
Glb1l3	G	T	9: 26,824,826	L553I	probably benign	Het
Gm1123	T	C	9: 99,014,191	D212G	probably benign	Het
Grin2a	T	A	16: 9,992,226	D103V	probably damaging	Het
Heg1	A	G	16: 33,706,963	I98V	probably benign	Het
Hmcn2	C	A	2: 31,420,812	T3356N	possibly damaging	Het
Hpf1	T	G	8: 60,896,800	I154S	possibly damaging	Het
Ifnar2	A	G	16: 91,404,227	D452G	possibly damaging	Het
Ikbkap	T	C	4: 56,776,920	T626A	possibly damaging	Het
Iqcc	A	T	4: 129,616,527	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,117,699	I669T	probably damaging	Het
Itgae	A	G	11: 73,129,248	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,801,344	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426	D600G	possibly damaging	Het
Klf13	G	A	7: 63,891,600		probably benign	Het
Kmt2d	A	G	15: 98,844,397		probably benign	Het
Lama1	A	G	17: 67,802,948	D2188G	probably damaging	Het
Leng8	A	G	7: 4,145,274	T682A	probably damaging	Het
Mslnl	G	T	17: 25,737,842	G34V	possibly damaging	Het
Mycbp2	A	T	14: 103,188,608	S2360R	probably damaging	Het
Mycbp2	C	A	14: 103,188,615		probably null	Het
Nkx2-2	T	C	2: 147,184,399	T140A	probably damaging	Het
Olfr1233	A	T	2: 89,339,705	V199E	possibly damaging	Het
Olfr745	T	C	14: 50,643,067	V262A	probably benign	Het
Oser1	C	T	2: 163,407,045	R79H	probably damaging	Het
Pfas	A	G	11: 68,991,132	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,532,992	E1970G	probably benign	Het
Prph2	G	T	17: 46,910,667		probably benign	Het
Rusc2	G	T	4: 43,425,758	A1288S	probably benign	Het
Sdha	A	G	13: 74,323,839		probably null	Het
Sec16a	T	G	2: 26,439,895	T703P	probably benign	Het
Senp7	T	A	16: 56,173,208	N724K	possibly damaging	Het
Skint1	A	G	4: 112,025,502	I248V	probably benign	Het
Slc9a5	T	C	8: 105,357,013	V395A	probably benign	Het
Slco1a4	T	C	6: 141,834,659	N135S	possibly damaging	Het
Sncaip	A	G	18: 52,894,956	I412M	probably damaging	Het
Tacc2	A	T	7: 130,624,051	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,351,837	H281Q	probably benign	Het
Tex46	G	T	4: 136,612,917	M104I	probably benign	Het
Tjp3	T	C	10: 81,278,620		probably null	Het
Treh	A	G	9: 44,682,678	Y154C	probably damaging	Het
Trim80	T	A	11: 115,446,785	L428Q	probably damaging	Het
Trpm6	A	G	19: 18,853,604	K1278E	probably damaging	Het
Usp34	T	C	11: 23,375,024	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,247,748	S267P	probably benign	Het
Ywhae	T	C	11: 75,756,924	M160T	probably benign	Het
Zcchc11	G	A	4: 108,557,373	R49H	probably damaging	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
R5799:Asap2	UTSW	12	21168246	missense	probably damaging	1.00
R5876:Asap2	UTSW	12	21212809	missense	possibly damaging	0.88
R5888:Asap2	UTSW	12	21218190	missense	probably damaging	1.00
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'- AGCATGAGGCCTGTTCTCTG -3'
(R):5'- GATGAGGAAGGCACTGCTCATC -3'

Sequencing Primer
(F):5'- GGCTAAGAACTTGGCTTCCTAC -3'
(R):5'- ACCAGATCCAGATTGCTTAGGCTG -3'

Posted On

2016-11-08