Mutagenetix > Incidental Mutation

Incidental Mutation 'R1491:Arfgap2'

163706

Institutional Source

Beutler Lab

Gene Symbol

Arfgap2

Ensembl Gene

ENSMUSG00000027255

Gene Name

ADP-ribosylation factor GTPase activating protein 2

Synonyms

Zfp289, 2310032E02Rik

MMRRC Submission

039543-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R1491 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

91095319-91107276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91105204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 423 (K423E)

Ref Sequence

ENSEMBL: ENSMUSP00000078920 (fasta)

Gene Model

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

AlphaFold

Q99K28

Predicted Effect

probably damaging
Transcript: ENSMUST00000028691
AA Change: K437E

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

SMART Domains

Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
AA Change: K437E

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: K423E

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

SMART Domains

Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
AA Change: K423E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146228

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	T	A	12: 112,381,489 (GRCm39)		noncoding transcript	Het
Acss3	A	G	10: 106,773,169 (GRCm39)	S606P	probably benign	Het
Adamts13	C	T	2: 26,868,327 (GRCm39)	T146M	probably damaging	Het
Adora2b	G	A	11: 62,156,363 (GRCm39)	V271M	probably benign	Het
Agpat5	A	G	8: 18,896,739 (GRCm39)	Y55C	probably damaging	Het
AI987944	A	C	7: 41,023,772 (GRCm39)	Y402*	probably null	Het
Angptl4	C	T	17: 34,000,165 (GRCm39)	A68T	possibly damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Arfgef3	A	T	10: 18,522,302 (GRCm39)	S575T	probably damaging	Het
Arhgap24	A	G	5: 103,008,198 (GRCm39)	I40V	possibly damaging	Het
Arhgef7	T	C	8: 11,869,733 (GRCm39)		probably null	Het
Arid1a	C	A	4: 133,448,237 (GRCm39)	S477I	unknown	Het
Armc7	T	C	11: 115,367,029 (GRCm39)	V58A	probably damaging	Het
Arrdc5	A	T	17: 56,601,222 (GRCm39)	I301N	probably damaging	Het
Capn15	G	A	17: 26,183,453 (GRCm39)	P343S	probably damaging	Het
Catspere2	C	T	1: 177,843,495 (GRCm39)	T69I	possibly damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cgn	C	T	3: 94,670,535 (GRCm39)	R1002Q	probably damaging	Het
Clstn3	A	T	6: 124,414,449 (GRCm39)	I759N	possibly damaging	Het
Cops5	A	G	1: 10,104,243 (GRCm39)	V166A	possibly damaging	Het
Cramp1	G	T	17: 25,191,323 (GRCm39)	T1046K	probably benign	Het
Cthrc1	T	G	15: 38,950,072 (GRCm39)	V143G	probably damaging	Het
Cul9	G	A	17: 46,849,490 (GRCm39)	Q552*	probably null	Het
Cyp27b1	A	T	10: 126,886,957 (GRCm39)	D391V	probably damaging	Het
Dcun1d2	A	G	8: 13,331,040 (GRCm39)	L30S	probably damaging	Het
Dsc3	T	C	18: 20,120,091 (GRCm39)	E189G	probably damaging	Het
Dst	T	G	1: 34,193,675 (GRCm39)	S295A	probably damaging	Het
Dusp22	A	G	13: 30,892,798 (GRCm39)	T192A	probably benign	Het
Esp24	A	T	17: 39,349,176 (GRCm39)	M1L	probably null	Het
Evc2	G	A	5: 37,550,541 (GRCm39)		probably null	Het
Fgd6	A	G	10: 93,880,694 (GRCm39)	N516S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Fut8	T	A	12: 77,495,448 (GRCm39)	I346K	possibly damaging	Het
Gata3	A	C	2: 9,882,201 (GRCm39)	V32G	probably damaging	Het
Glrb	A	T	3: 80,819,282 (GRCm39)	C39S	possibly damaging	Het
Gpr171	A	G	3: 59,005,016 (GRCm39)	V253A	probably benign	Het
Hdac5	A	G	11: 102,092,079 (GRCm39)	V670A	probably benign	Het
Hmgxb3	T	C	18: 61,266,980 (GRCm39)	S1085G	probably benign	Het
Hspa4l	A	G	3: 40,741,226 (GRCm39)	N746S	probably benign	Het
Hyal5	A	G	6: 24,877,902 (GRCm39)	T333A	probably benign	Het
Ippk	T	C	13: 49,615,069 (GRCm39)	V484A	probably benign	Het
Jmjd8	A	T	17: 26,048,266 (GRCm39)	T33S	possibly damaging	Het
Kctd19	T	A	8: 106,113,694 (GRCm39)	I660L	possibly damaging	Het
Lrat	A	G	3: 82,810,649 (GRCm39)	V124A	probably benign	Het
Madcam1	A	G	10: 79,502,358 (GRCm39)	I281V	probably benign	Het
Mast2	T	A	4: 116,173,688 (GRCm39)	I455F	possibly damaging	Het
Mroh7	A	G	4: 106,560,255 (GRCm39)	L683P	probably benign	Het
Myo15b	C	A	11: 115,777,683 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,416,849 (GRCm39)	E814G	probably benign	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or13a20	T	G	7: 140,232,650 (GRCm39)	Y253D	probably damaging	Het
Or9a2	T	C	6: 41,748,456 (GRCm39)	Y259C	possibly damaging	Het
P2ry13	T	C	3: 59,116,939 (GRCm39)	K280E	probably damaging	Het
Paqr8	C	A	1: 21,005,048 (GRCm39)	F67L	probably benign	Het
Pfkfb3	G	T	2: 11,498,747 (GRCm39)	R37S	probably damaging	Het
Phf14	A	G	6: 11,941,478 (GRCm39)	D310G	possibly damaging	Het
Phkb	A	G	8: 86,602,286 (GRCm39)	S26G	possibly damaging	Het
Pkd1l2	T	A	8: 117,755,147 (GRCm39)	I1684F	probably damaging	Het
Plod2	T	C	9: 92,488,637 (GRCm39)	V621A	probably benign	Het
Plvap	T	C	8: 71,964,116 (GRCm39)	N82S	probably damaging	Het
Pomgnt2	A	G	9: 121,811,326 (GRCm39)	V485A	probably damaging	Het
Psmd9	A	G	5: 123,366,410 (GRCm39)	E14G	probably benign	Het
Pwwp2b	A	G	7: 138,835,879 (GRCm39)	E440G	probably damaging	Het
Rasgrp1	G	A	2: 117,113,100 (GRCm39)	Q771*	probably null	Het
Rft1	C	T	14: 30,388,744 (GRCm39)	Q223*	probably null	Het
Rgs22	C	A	15: 36,093,047 (GRCm39)	V409F	probably damaging	Het
Rgsl1	G	A	1: 153,701,672 (GRCm39)	P261S	possibly damaging	Het
Rpl7a	A	G	2: 26,801,127 (GRCm39)	N38S	probably damaging	Het
Sh3rf2	T	A	18: 42,187,004 (GRCm39)	F41Y	probably damaging	Het
Spata6	T	A	4: 111,603,388 (GRCm39)	S34R	probably damaging	Het
Sult2a3	A	T	7: 13,856,867 (GRCm39)	Y18N	probably benign	Het
Tapt1	A	G	5: 44,375,444 (GRCm39)		probably null	Het
Tex2	A	T	11: 106,394,466 (GRCm39)	C615S	possibly damaging	Het
Trim43b	T	C	9: 88,969,665 (GRCm39)	K261R	possibly damaging	Het
Unc5c	T	A	3: 141,495,583 (GRCm39)	M484K	probably damaging	Het
Vezf1	T	A	11: 87,964,573 (GRCm39)	S242T	probably damaging	Het
Vmn2r1	A	G	3: 63,997,034 (GRCm39)	Y230C	probably damaging	Het
Vmn2r94	A	G	17: 18,477,965 (GRCm39)	S149P	probably damaging	Het
Wfdc1	T	A	8: 120,393,405 (GRCm39)		probably null	Het
Zfp975	T	C	7: 42,312,236 (GRCm39)	T126A	probably benign	Het
Zmym4	T	C	4: 126,776,105 (GRCm39)		probably null	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
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
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'- GATAGGACGACCTTCTTTCTGCGAC -3'
(R):5'- TGCCGGATTAGGTTATCCCGATGC -3'

Sequencing Primer
(F):5'- TCTGCGACTTAGTGAGACCAC -3'
(R):5'- AGGTTATCCCGATGCTAAGGC -3'

Posted On

2014-03-28