Mutagenetix > Incidental Mutation

Incidental Mutation 'R4707:Arfgap2'

355289

Institutional Source

Beutler Lab

Gene Symbol

Arfgap2

Ensembl Gene

ENSMUSG00000027255

Gene Name

ADP-ribosylation factor GTPase activating protein 2

Synonyms

Zfp289, 2310032E02Rik

MMRRC Submission

041955-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R4707 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91095319-91107276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91100316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 250 (S250R)

Ref Sequence

ENSEMBL: ENSMUSP00000028691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028691] [ENSMUST00000080008]

AlphaFold

Q99K28

Predicted Effect

probably damaging
Transcript: ENSMUST00000028691
AA Change: S250R

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

SMART Domains

Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
AA Change: S250R

Domain	Start	End	E-Value	Type
ArfGap	11	125	1.46e-44	SMART
low complexity region	227	246	N/A	INTRINSIC
coiled coil region	254	321	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
Blast:ArfGap	370	434	6e-32	BLAST
low complexity region	468	476	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000080008
AA Change: S236R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
AA Change: S236R

Domain	Start	End	E-Value	Type
ArfGap	11	125	1.46e-44	SMART
low complexity region	213	232	N/A	INTRINSIC
coiled coil region	240	307	N/A	INTRINSIC
low complexity region	309	321	N/A	INTRINSIC
internal_repeat_1	333	376	9.77e-5	PROSPERO
low complexity region	454	462	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150753

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a zinc-finger-containing GTPase-activating protein for ADP ribosylation factor 1 (ARF1), a small GTPase that plays a role in coatomer-mediated vesicular trafficking. This gene product stimulates the hydrolysis of ARF1-bound GTP, which may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes. It may regulate the retrograde transport from the Golgi complex to the endoplasmic reticulum. Expression of this gene has been shown to be controlled by inhibitor of DNA binding 1 (Id1). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene was identified on chromosome 6. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,224,544 (GRCm39)	K450R	probably damaging	Het
Abcd2	T	C	15: 91,043,385 (GRCm39)	D601G	probably benign	Het
Abcf3	A	G	16: 20,367,808 (GRCm39)	K56E	possibly damaging	Het
Acaca	T	C	11: 84,203,680 (GRCm39)	V1477A	probably damaging	Het
Adamts20	G	A	15: 94,231,528 (GRCm39)	P887L	possibly damaging	Het
Ahnak	T	G	19: 8,994,099 (GRCm39)	S5128A	probably benign	Het
Ahsa2	C	A	11: 23,443,162 (GRCm39)	V197F	probably benign	Het
Ak9	C	A	10: 41,221,456 (GRCm39)	H402N	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Ankrd16	A	G	2: 11,783,608 (GRCm39)	D70G	probably damaging	Het
Apob	A	T	12: 8,056,205 (GRCm39)	K1562N	probably damaging	Het
Arhgef10l	C	T	4: 140,264,194 (GRCm39)	M671I	possibly damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
B4galnt2	C	T	11: 95,766,923 (GRCm39)		probably null	Het
C8a	A	G	4: 104,713,618 (GRCm39)	Y171H	probably damaging	Het
Cacnb4	A	G	2: 52,364,927 (GRCm39)	V112A	probably benign	Het
Capn9	G	T	8: 125,340,195 (GRCm39)	C566F	possibly damaging	Het
Ccdc88a	T	A	11: 29,397,956 (GRCm39)	S230T	probably benign	Het
Cd300c2	A	T	11: 114,887,811 (GRCm39)	F197Y	probably benign	Het
Chd5	A	G	4: 152,445,039 (GRCm39)	Y340C	probably damaging	Het
Chrd	A	T	16: 20,557,558 (GRCm39)	I726F	possibly damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clasp1	T	A	1: 118,470,927 (GRCm39)	Y197*	probably null	Het
Cyp2c69	C	G	19: 39,837,852 (GRCm39)	G410A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dapp1	T	C	3: 137,638,928 (GRCm39)	D225G	probably benign	Het
Dnah5	A	T	15: 28,372,521 (GRCm39)	D2924V	probably damaging	Het
Efcab12	A	T	6: 115,791,510 (GRCm39)	L554Q	possibly damaging	Het
Emsy	T	C	7: 98,246,311 (GRCm39)	T228A	possibly damaging	Het
Evc2	G	A	5: 37,579,204 (GRCm39)	V1106I	probably benign	Het
Exoc8	G	T	8: 125,624,209 (GRCm39)	Q53K	possibly damaging	Het
Fbn2	A	T	18: 58,189,344 (GRCm39)	V1594D	probably damaging	Het
Fer1l4	T	C	2: 155,887,543 (GRCm39)	Y551C	possibly damaging	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Fmnl3	A	G	15: 99,221,362 (GRCm39)	M481T	probably benign	Het
Fras1	A	G	5: 96,883,097 (GRCm39)	N2543S	probably damaging	Het
Fsd2	T	C	7: 81,209,428 (GRCm39)	D138G	probably damaging	Het
Gda	C	T	19: 21,405,992 (GRCm39)	V5I	probably benign	Het
Glt8d2	A	T	10: 82,496,583 (GRCm39)	D158E	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Greb1l	A	G	18: 10,532,922 (GRCm39)	M830V	probably benign	Het
Hnrnpul1	A	C	7: 25,426,258 (GRCm39)	V531G	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Igsf3	G	C	3: 101,365,410 (GRCm39)	R1127P	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Islr	T	C	9: 58,064,970 (GRCm39)	D179G	possibly damaging	Het
Jcad	G	T	18: 4,649,338 (GRCm39)	E70*	probably null	Het
Kcnd2	T	C	6: 21,723,211 (GRCm39)	I467T	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Lrrtm3	T	A	10: 63,923,781 (GRCm39)	H462L	probably benign	Het
Mbd5	T	C	2: 49,140,168 (GRCm39)	L44S	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Mgam	A	T	6: 40,691,566 (GRCm39)		probably null	Het
Mipep	T	A	14: 61,109,552 (GRCm39)	I643N	probably damaging	Het
Mmrn1	A	T	6: 60,965,457 (GRCm39)	I1162L	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,861,600 (GRCm39)	C1354Y	probably damaging	Het
Nbeal2	A	T	9: 110,461,123 (GRCm39)	S1647T	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nedd9	A	T	13: 41,492,051 (GRCm39)		probably null	Het
Nr4a2	T	A	2: 57,002,105 (GRCm39)	H116L	probably benign	Het
Nwd2	A	G	5: 63,951,665 (GRCm39)	Y232C	probably damaging	Het
Odf4	A	G	11: 68,817,514 (GRCm39)	L58P	probably damaging	Het
Or2a20	T	A	6: 43,193,883 (GRCm39)	V12D	probably benign	Het
Or4a27	T	A	2: 88,559,056 (GRCm39)	M296L	possibly damaging	Het
Or4c116	A	T	2: 88,942,576 (GRCm39)	F93L	probably damaging	Het
Or4g17	T	A	2: 111,209,990 (GRCm39)	L215H	probably damaging	Het
Or7e165	C	T	9: 19,694,596 (GRCm39)	H18Y	probably damaging	Het
Or8g24	A	G	9: 38,989,558 (GRCm39)	V161A	probably benign	Het
Or8s5	G	T	15: 98,238,659 (GRCm39)	H70Q	possibly damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Prdx6b	T	C	2: 80,123,404 (GRCm39)	L71P	probably damaging	Het
Prmt2	A	G	10: 76,062,055 (GRCm39)	I50T	probably damaging	Het
Ptdss1	T	C	13: 67,143,482 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,254,532 (GRCm39)	T138A	possibly damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rev3l	T	A	10: 39,699,393 (GRCm39)	S1297T	probably damaging	Het
Rgma	C	A	7: 73,067,564 (GRCm39)	T367K	probably damaging	Het
Rps6ka5	C	T	12: 100,564,144 (GRCm39)		probably null	Het
Rslcan18	A	T	13: 67,246,590 (GRCm39)	C217S	probably damaging	Het
Rtp3	A	G	9: 110,815,279 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,745,087 (GRCm39)	N3848K	probably damaging	Het
Sema6a	T	A	18: 47,381,779 (GRCm39)	T923S	probably benign	Het
Serpinb6d	A	T	13: 33,855,336 (GRCm39)	T337S	possibly damaging	Het
Sf3b1	G	A	1: 55,029,666 (GRCm39)	T1112M	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sidt1	A	T	16: 44,090,221 (GRCm39)	Y369*	probably null	Het
Slc16a6	A	G	11: 109,354,193 (GRCm39)	S59P	probably benign	Het
Slc25a17	A	C	15: 81,211,527 (GRCm39)	L163W	probably damaging	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Sptbn1	T	C	11: 30,087,197 (GRCm39)	T1081A	possibly damaging	Het
Sptbn4	T	C	7: 27,116,431 (GRCm39)	D456G	probably benign	Het
Sycp1	C	A	3: 102,760,805 (GRCm39)	A703S	possibly damaging	Het
Tas2r118	T	A	6: 23,969,225 (GRCm39)	M279L	probably benign	Het
Tc2n	T	G	12: 101,660,832 (GRCm39)	Q133H	probably benign	Het
Tctn1	A	G	5: 122,399,468 (GRCm39)		probably null	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tex10	A	T	4: 48,468,984 (GRCm39)	S64T	probably benign	Het
Tex15	A	G	8: 34,072,525 (GRCm39)	T2691A	probably benign	Het
Tmem175	A	T	5: 108,790,016 (GRCm39)	T123S	probably damaging	Het
Tsc1	C	A	2: 28,562,419 (GRCm39)	S348R	probably damaging	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Ttll8	A	T	15: 88,801,293 (GRCm39)	I465N	probably damaging	Het
Ubr3	A	G	2: 69,768,714 (GRCm39)		probably benign	Het
Ugdh	A	T	5: 65,580,695 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,437,215 (GRCm39)	L3326S	probably damaging	Het
Vmn2r125	A	T	4: 156,702,276 (GRCm39)	I21F	probably damaging	Het
Vps9d1	G	A	8: 123,975,351 (GRCm39)		probably benign	Het
Xab2	G	A	8: 3,668,117 (GRCm39)	R154C	possibly damaging	Het
Zbtb12	T	C	17: 35,114,475 (GRCm39)	S87P	probably damaging	Het
Zc3h12a	A	G	4: 125,014,686 (GRCm39)	M266T	probably damaging	Het
Zfp108	G	A	7: 23,959,837 (GRCm39)	A143T	probably benign	Het

Other mutations in Arfgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0097:Arfgap2	UTSW	2	91,105,160 (GRCm39)	missense	probably benign	0.16
R0097:Arfgap2	UTSW	2	91,105,160 (GRCm39)	missense	probably benign	0.16
R0178:Arfgap2	UTSW	2	91,097,706 (GRCm39)	missense	probably benign	0.00
R0927:Arfgap2	UTSW	2	91,104,150 (GRCm39)	missense	probably benign	0.05
R1491:Arfgap2	UTSW	2	91,105,204 (GRCm39)	missense	probably damaging	1.00
R1693:Arfgap2	UTSW	2	91,100,420 (GRCm39)	splice site	probably null
R2091:Arfgap2	UTSW	2	91,100,586 (GRCm39)	missense	probably benign	0.02
R2199:Arfgap2	UTSW	2	91,096,037 (GRCm39)	critical splice donor site	probably null
R3772:Arfgap2	UTSW	2	91,095,711 (GRCm39)	missense	probably benign
R3922:Arfgap2	UTSW	2	91,105,150 (GRCm39)	missense	probably damaging	1.00
R3926:Arfgap2	UTSW	2	91,105,150 (GRCm39)	missense	probably damaging	1.00
R4751:Arfgap2	UTSW	2	91,097,713 (GRCm39)	missense	probably benign	0.10
R4923:Arfgap2	UTSW	2	91,104,004 (GRCm39)	missense	probably damaging	1.00
R5249:Arfgap2	UTSW	2	91,095,982 (GRCm39)	nonsense	probably null
R5541:Arfgap2	UTSW	2	91,106,114 (GRCm39)	missense	probably benign	0.09
R5608:Arfgap2	UTSW	2	91,100,547 (GRCm39)	missense	probably damaging	1.00
R5626:Arfgap2	UTSW	2	91,105,737 (GRCm39)	nonsense	probably null
R6261:Arfgap2	UTSW	2	91,100,627 (GRCm39)	missense	probably benign	0.00
R6300:Arfgap2	UTSW	2	91,097,540 (GRCm39)	missense	probably benign	0.00
R6948:Arfgap2	UTSW	2	91,097,524 (GRCm39)	missense	probably benign	0.00
R7531:Arfgap2	UTSW	2	91,104,089 (GRCm39)	splice site	probably null
R8058:Arfgap2	UTSW	2	91,096,644 (GRCm39)	critical splice donor site	probably null
R8121:Arfgap2	UTSW	2	91,096,028 (GRCm39)	missense	probably benign	0.01
R8179:Arfgap2	UTSW	2	91,105,668 (GRCm39)	missense	probably damaging	1.00
R8825:Arfgap2	UTSW	2	91,103,906 (GRCm39)	missense	probably damaging	1.00
R8995:Arfgap2	UTSW	2	91,103,929 (GRCm39)	missense	probably damaging	1.00
Z1177:Arfgap2	UTSW	2	91,105,449 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- ACCACCGTTGTCTTAGAATGC -3'
(R):5'- AATCTGGAGCTCCTGGTAGG -3'

Sequencing Primer
(F):5'- CTTAGAATGCTCACTGGATACTGAGG -3'
(R):5'- CCTGGAGGGAACGAACACTC -3'

Posted On

2015-10-21