Mutagenetix > Incidental Mutation

Incidental Mutation 'R8179:Arfgap2'

634526

Institutional Source

Beutler Lab

Gene Symbol

Arfgap2

Ensembl Gene

ENSMUSG00000027255

Gene Name

ADP-ribosylation factor GTPase activating protein 2

Synonyms

Zfp289, 2310032E02Rik

MMRRC Submission

067604-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R8179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91095319-91107276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91105668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 505 (F505L)

Ref Sequence

ENSEMBL: ENSMUSP00000028691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028691] [ENSMUST00000064652] [ENSMUST00000080008] [ENSMUST00000094835] [ENSMUST00000102594]

AlphaFold

Q99K28

Predicted Effect

probably damaging
Transcript: ENSMUST00000028691
AA Change: F505L

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

SMART Domains

Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
AA Change: F505L

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 benign
Transcript: ENSMUST00000064652

Predicted Effect

probably damaging
Transcript: ENSMUST00000080008
AA Change: F491L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
AA Change: F491L

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

probably benign
Transcript: ENSMUST00000094835

SMART Domains

Protein: ENSMUSP00000092431
Gene: ENSMUSG00000040591

Domain	Start	End	E-Value	Type
low complexity region	219	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102594

SMART Domains

Protein: ENSMUSP00000099654
Gene: ENSMUSG00000040591

Domain	Start	End	E-Value	Type
low complexity region	316	331	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,136,100 (GRCm39)	Y170H	probably damaging	Het
Ace3	G	T	11: 105,895,383 (GRCm39)	V602L	probably benign	Het
Ahr	T	C	12: 35,560,050 (GRCm39)	Q201R	probably benign	Het
Aldh18a1	A	C	19: 40,545,952 (GRCm39)	C612G	probably damaging	Het
Ankrd40	G	A	11: 94,225,541 (GRCm39)	A191T	probably benign	Het
Aox1	A	G	1: 58,137,117 (GRCm39)	D1169G	probably damaging	Het
Arhgap40	T	C	2: 158,381,776 (GRCm39)	F423L	probably damaging	Het
Atf6b	T	C	17: 34,872,968 (GRCm39)	M628T	probably damaging	Het
Casp8ap2	T	A	4: 32,643,939 (GRCm39)	L1004*	probably null	Het
Cc2d2a	T	A	5: 43,857,295 (GRCm39)	L494Q	probably damaging	Het
Cd180	T	C	13: 102,842,141 (GRCm39)	S396P	probably benign	Het
Cdk19	T	C	10: 40,270,368 (GRCm39)	I59T	possibly damaging	Het
Cfap54	G	T	10: 92,833,178 (GRCm39)	F1149L	possibly damaging	Het
Chp1	C	T	2: 119,378,253 (GRCm39)		probably benign	Het
Clmp	T	C	9: 40,692,475 (GRCm39)	F248S	probably benign	Het
Ctc1	T	A	11: 68,915,050 (GRCm39)	I237K	probably benign	Het
Dcaf1	G	T	9: 106,735,115 (GRCm39)	V688L	probably damaging	Het
Ddx54	T	A	5: 120,765,167 (GRCm39)	M812K	probably benign	Het
Disc1	C	T	8: 125,814,316 (GRCm39)	P60L	probably benign	Het
Disp2	C	G	2: 118,623,030 (GRCm39)	P1254R	probably damaging	Het
Dnah11	T	A	12: 117,842,284 (GRCm39)	I4432F	possibly damaging	Het
Dnajc15	A	T	14: 78,090,393 (GRCm39)	I58N		Het
Elovl5	A	G	9: 77,884,181 (GRCm39)	N159S	probably damaging	Het
Fgfr3	T	C	5: 33,885,099 (GRCm39)	V71A	probably benign	Het
Frs2	A	T	10: 116,912,791 (GRCm39)	H167Q	probably damaging	Het
Gm4553	A	T	7: 141,718,594 (GRCm39)	V278E	unknown	Het
Grin2d	A	T	7: 45,507,452 (GRCm39)	Y416*	probably null	Het
Hmcn1	A	T	1: 150,598,265 (GRCm39)	V1679E	probably benign	Het
Igkv18-36	T	C	6: 69,969,479 (GRCm39)	Y105C	probably damaging	Het
Lingo1	T	C	9: 56,527,134 (GRCm39)	D491G	probably damaging	Het
Map3k1	A	C	13: 111,885,581 (GRCm39)	I1445M	probably damaging	Het
Med30	A	T	15: 52,575,964 (GRCm39)	Q20L	probably damaging	Het
Mgat5b	A	G	11: 116,822,554 (GRCm39)	E96G	probably benign	Het
Mmp16	T	A	4: 17,853,854 (GRCm39)		probably null	Het
Mogat1	A	G	1: 78,504,255 (GRCm39)	D176G	possibly damaging	Het
Mre11a	T	A	9: 14,708,362 (GRCm39)	D142E	probably null	Het
Mybpc2	C	A	7: 44,159,254 (GRCm39)	V599L	probably benign	Het
Myot	A	T	18: 44,487,197 (GRCm39)	R345*	probably null	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or10z1	T	G	1: 174,078,130 (GRCm39)	D121A	possibly damaging	Het
Or8g53	C	T	9: 39,683,200 (GRCm39)	V299I	probably benign	Het
Pglyrp2	T	C	17: 32,635,003 (GRCm39)	Y453C	possibly damaging	Het
Phrf1	A	G	7: 140,836,493 (GRCm39)	Y255C	unknown	Het
Plppr4	A	G	3: 117,125,327 (GRCm39)	S171P	probably damaging	Het
Ppip5k1	A	T	2: 121,172,095 (GRCm39)		probably null	Het
Pramel57	T	C	5: 95,667,753 (GRCm39)	V111A	probably benign	Het
Rapgef3	A	T	15: 97,658,621 (GRCm39)	H170Q	probably benign	Het
Rnf10	ACCTCATCTCGTC	AC	5: 115,398,176 (GRCm39)		probably null	Het
Rpe65	A	G	3: 159,330,336 (GRCm39)	Y501C	probably benign	Het
Ruvbl2	A	G	7: 45,072,196 (GRCm39)	I346T	probably damaging	Het
Sema3g	A	G	14: 30,942,542 (GRCm39)	I48V	probably benign	Het
Slc4a10	A	C	2: 62,073,792 (GRCm39)	S285R	possibly damaging	Het
Slc6a11	G	A	6: 114,222,567 (GRCm39)	G521S	probably benign	Het
Slit3	A	G	11: 35,554,903 (GRCm39)	N912D	probably benign	Het
Traf3ip1	T	C	1: 91,428,523 (GRCm39)	V128A	unknown	Het
Trpc7	T	A	13: 57,035,693 (GRCm39)	N80I	probably damaging	Het
Ttc21b	G	A	2: 66,031,824 (GRCm39)	H1031Y	probably benign	Het
Tubg2	A	T	11: 101,051,082 (GRCm39)	I235F	probably benign	Het
Ube2q2l	A	G	6: 136,378,240 (GRCm39)	S197P	probably damaging	Het
Vmn2r118	A	T	17: 55,915,484 (GRCm39)	Y489N	probably benign	Het
Vmn2r54	G	T	7: 12,366,018 (GRCm39)	C305*	probably null	Het
Vmn2r86	G	A	10: 130,288,953 (GRCm39)	H183Y	probably benign	Het
Xrcc5	T	C	1: 72,396,016 (GRCm39)	V603A	probably damaging	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	Het
Zfp112	C	T	7: 23,825,063 (GRCm39)	P348S	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
R4707:Arfgap2	UTSW	2	91,100,316 (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
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'- TGCCATCAGCTCTTCAGACC -3'
(R):5'- GGGATGGAGAGTAACTACCCTG -3'

Sequencing Primer
(F):5'- CAGACCTTTTTGGAAACATGGATGG -3'
(R):5'- TGGAGAGTAACTACCCTGCCAAAC -3'

Posted On

2020-07-13