Mutagenetix > Incidental Mutation

Incidental Mutation 'R2151:Asap2'

234292

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

040154-MU

Accession Numbers

Essential gene?

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

Stock #

R2151 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

21161369-21320172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21162084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 14 (T14S)

Ref Sequence

ENSEMBL: ENSMUSP00000054631 (fasta)

Gene Model

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

AlphaFold

Q7SIG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000050990
AA Change: T14S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
AA Change: T14S

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: T14S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
AA Change: T14S

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: T14S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632
AA Change: T14S

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: T14S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
AA Change: T14S

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

Meta Mutation Damage Score

0.2341

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	C	12: 72,954,725 (GRCm39)		probably null	Het
4930579F01Rik	A	G	3: 137,882,217 (GRCm39)		probably null	Het
Abhd17c	G	T	7: 83,800,663 (GRCm39)	H130Q	probably damaging	Het
Actr10	T	A	12: 70,987,575 (GRCm39)	C27*	probably null	Het
Als2	G	A	1: 59,246,948 (GRCm39)	H564Y	probably damaging	Het
Anxa2r1	C	T	13: 120,496,335 (GRCm39)	C178Y	unknown	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Ccn3	G	A	15: 54,615,854 (GRCm39)	A340T	probably benign	Het
Cnbp	C	T	6: 87,822,281 (GRCm39)	G81D	probably damaging	Het
Dnah5	T	C	15: 28,444,237 (GRCm39)	Y4012H	probably damaging	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Drc3	A	T	11: 60,265,983 (GRCm39)	E224V	probably benign	Het
Ehd2	T	C	7: 15,686,128 (GRCm39)	K315E	probably damaging	Het
Eif6	A	T	2: 155,664,810 (GRCm39)	N225K	probably benign	Het
Epg5	T	C	18: 78,070,517 (GRCm39)	V2264A	probably benign	Het
Faf2	T	C	13: 54,796,220 (GRCm39)	F126L	probably damaging	Het
Fiz1	T	C	7: 5,015,880 (GRCm39)	S37G	possibly damaging	Het
Frs3	T	C	17: 48,013,987 (GRCm39)	S227P	probably benign	Het
Garin3	A	T	11: 46,296,158 (GRCm39)	K177*	probably null	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gm6370	T	A	5: 146,430,451 (GRCm39)	L212Q	probably damaging	Het
Gmnc	G	A	16: 26,779,456 (GRCm39)	H142Y	possibly damaging	Het
Gna15	T	C	10: 81,338,738 (GRCm39)	Y367C	probably damaging	Het
Gpr158	G	A	2: 21,832,325 (GRCm39)	V1142M	possibly damaging	Het
Gpx6	A	G	13: 21,503,141 (GRCm39)	K185R	probably damaging	Het
Hc	A	C	2: 34,881,115 (GRCm39)		probably benign	Het
Hdac9	A	G	12: 34,440,255 (GRCm39)	S375P	probably damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Klre1	G	A	6: 129,556,996 (GRCm39)	E33K	possibly damaging	Het
Ldhb	C	A	6: 142,444,396 (GRCm39)	V86L	possibly damaging	Het
Maco1	A	G	4: 134,538,534 (GRCm39)	V470A	probably benign	Het
Magi3	T	A	3: 103,954,198 (GRCm39)	K713I	probably damaging	Het
Magi3	T	C	3: 103,992,554 (GRCm39)	Y306C	probably damaging	Het
Minar1	T	G	9: 89,484,221 (GRCm39)	K392T	possibly damaging	Het
Mmp17	T	C	5: 129,682,725 (GRCm39)	Y455H	probably benign	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Myo1a	T	C	10: 127,556,050 (GRCm39)	I969T	probably benign	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nf1	T	A	11: 79,338,396 (GRCm39)	M1136K	possibly damaging	Het
Nmi	T	C	2: 51,842,555 (GRCm39)	E179G	probably damaging	Het
Nrros	A	T	16: 31,962,076 (GRCm39)	M611K	probably benign	Het
Nsd1	A	T	13: 55,439,049 (GRCm39)	N1692I	probably damaging	Het
Nuak1	T	C	10: 84,245,509 (GRCm39)	N112S	probably benign	Het
Odf2l	T	C	3: 144,854,785 (GRCm39)	Y488H	possibly damaging	Het
Or4c106	C	A	2: 88,683,128 (GRCm39)	P278H	probably damaging	Het
Or8g21	T	A	9: 38,906,012 (GRCm39)	T240S	probably damaging	Het
Or8g30	T	A	9: 39,230,413 (GRCm39)	I166F	probably damaging	Het
Otop2	A	G	11: 115,220,237 (GRCm39)	D359G	possibly damaging	Het
Pi4ka	A	T	16: 17,185,371 (GRCm39)	F243Y	probably benign	Het
Pnma8b	T	C	7: 16,679,837 (GRCm39)	C274R	probably benign	Het
Ppp1r42	A	G	1: 10,073,572 (GRCm39)	V6A	probably benign	Het
Prrg4	A	G	2: 104,669,733 (GRCm39)	L128S	probably damaging	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Psen2	A	G	1: 180,061,229 (GRCm39)	V278A	probably damaging	Het
Ptpn13	C	A	5: 103,673,651 (GRCm39)	T538K	probably damaging	Het
Pttg1ip2	C	T	5: 5,528,875 (GRCm39)	V47I	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rbak	A	C	5: 143,162,257 (GRCm39)	D35E	possibly damaging	Het
Rbms1	C	A	2: 60,592,392 (GRCm39)		probably null	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Rnf182	T	A	13: 43,821,899 (GRCm39)	V150E	probably benign	Het
Sacs	A	G	14: 61,447,089 (GRCm39)	Y3045C	probably damaging	Het
Scp2	G	T	4: 107,921,141 (GRCm39)	A23E	probably benign	Het
Sec16a	A	T	2: 26,303,757 (GRCm39)		probably benign	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slfn10-ps	T	A	11: 82,926,511 (GRCm39)		noncoding transcript	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Slx	T	A	X: 26,489,689 (GRCm39)		probably benign	Het
Spns3	C	A	11: 72,436,787 (GRCm39)		probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Taf3	C	T	2: 9,956,377 (GRCm39)	E597K	possibly damaging	Het
Tbcd	A	G	11: 121,494,457 (GRCm39)	Q1006R	possibly damaging	Het
Tenm4	G	T	7: 96,552,054 (GRCm39)	V2498F	probably damaging	Het
Tex2	T	C	11: 106,458,161 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,576,421 (GRCm39)	L154Q	probably damaging	Het
Tmem62	A	G	2: 120,817,343 (GRCm39)	H257R	probably damaging	Het
Trpm2	T	C	10: 77,768,013 (GRCm39)	I829V	probably benign	Het
Ttc38	A	G	15: 85,735,802 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,548,757 (GRCm39)	Y30135*	probably null	Het
Ttn	A	G	2: 76,810,477 (GRCm39)	V17A	probably benign	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn1r235	G	A	17: 21,482,628 (GRCm39)	V318I	probably benign	Het
Vmn2r76	T	C	7: 85,879,692 (GRCm39)	I203V	probably benign	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Zfp180	A	G	7: 23,804,685 (GRCm39)	H368R	probably damaging	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly damaging	Het
Zfyve27	G	T	19: 42,160,170 (GRCm39)	R62L	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
R1750:Asap2	UTSW	12	21,253,999 (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'- TCTGGGCTCGCTCGAAGA -3'
(R):5'- ACCAGAAACTTTTCCAGGGTG -3'

Sequencing Primer
(F):5'- TCCAGGAGCACAGCGGG -3'
(R):5'- AGGGCACTGGGTCTCGG -3'

Posted On

2014-10-01