Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Arfgap2'

378747

Institutional Source

Beutler Lab

Gene Symbol

Arfgap2

Ensembl Gene

ENSMUSG00000027255

Gene Name

ADP-ribosylation factor GTPase activating protein 2

Synonyms

Zfp289, 2310032E02Rik

MMRRC Submission

042525-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R4923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91095319-91107276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91104004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 353 (G353R)

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: G367R

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

SMART Domains

Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
AA Change: G367R

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: G353R

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

SMART Domains

Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
AA Change: G353R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150753

Meta Mutation Damage Score

0.2102

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,372 (GRCm39)	D124G	probably benign	Het
Akr1c6	T	C	13: 4,504,494 (GRCm39)	M293T	probably damaging	Het
Albfm1	A	G	5: 90,709,158 (GRCm39)	T23A	probably benign	Het
Ankhd1	A	G	18: 36,722,505 (GRCm39)	T343A	probably damaging	Het
Ano2	T	C	6: 125,880,018 (GRCm39)		probably benign	Het
Armc3	A	G	2: 19,297,791 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,889,528 (GRCm39)		probably null	Het
Brd4	A	G	17: 32,418,214 (GRCm39)	M13T	probably benign	Het
Btd	T	A	14: 31,384,044 (GRCm39)	M10K	possibly damaging	Het
C1s2	T	C	6: 124,602,649 (GRCm39)	K515E	probably benign	Het
Cars1	A	T	7: 143,123,587 (GRCm39)	Y455N	probably damaging	Het
Ccdc110	A	G	8: 46,396,460 (GRCm39)	S784G	probably benign	Het
Chic2	A	G	5: 75,171,872 (GRCm39)		probably benign	Het
Chka	A	T	19: 3,942,105 (GRCm39)		probably null	Het
Chrne	A	G	11: 70,506,101 (GRCm39)	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,729,486 (GRCm39)	V747A	probably benign	Het
Cobll1	A	G	2: 64,929,602 (GRCm39)	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,666,147 (GRCm39)	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,898,813 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,948,243 (GRCm39)	V13A	probably benign	Het
Creb3l4	T	A	3: 90,149,521 (GRCm39)	I115L	probably benign	Het
Cyp2j12	C	T	4: 95,990,346 (GRCm39)	A407T	possibly damaging	Het
Ddr2	A	G	1: 169,825,498 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,725,775 (GRCm39)	L743P	probably damaging	Het
Egfl8	T	C	17: 34,833,171 (GRCm39)	T192A	probably benign	Het
Elapor1	C	T	3: 108,379,284 (GRCm39)		probably null	Het
Elf3	A	G	1: 135,184,473 (GRCm39)		probably benign	Het
Entrep2	A	G	7: 64,417,439 (GRCm39)	S322P	probably benign	Het
Etv3	T	G	3: 87,443,223 (GRCm39)	L269R	possibly damaging	Het
Fah	C	A	7: 84,251,260 (GRCm39)		probably benign	Het
Fbll1	C	A	11: 35,688,407 (GRCm39)	L285F	probably benign	Het
Fcrla	A	T	1: 170,748,682 (GRCm39)	F154I	probably damaging	Het
Fnip2	T	A	3: 79,396,701 (GRCm39)		probably null	Het
Focad	T	C	4: 88,115,083 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,162,820 (GRCm39)	I462N	possibly damaging	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gnptab	A	G	10: 88,265,485 (GRCm39)	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,159,017 (GRCm39)		probably benign	Het
Il17ra	T	A	6: 120,454,406 (GRCm39)	V299E	possibly damaging	Het
Impg1	G	A	9: 80,252,360 (GRCm39)	Q607*	probably null	Het
Impg1	T	A	9: 80,252,827 (GRCm39)	E374V	probably damaging	Het
Itgax	C	T	7: 127,747,700 (GRCm39)	L1039F	probably benign	Het
Kcnk2	A	T	1: 189,072,133 (GRCm39)	V65D	probably damaging	Het
Kif20b	A	C	19: 34,918,611 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,825,942 (GRCm39)	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,368,139 (GRCm39)	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,997,197 (GRCm39)	H330N	probably benign	Het
Mars1	C	A	10: 127,132,549 (GRCm39)		probably benign	Het
Mdga1	C	A	17: 30,057,052 (GRCm39)	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608 (GRCm39)	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,066,202 (GRCm39)	E178G	probably benign	Het
Myg1	A	G	15: 102,240,288 (GRCm39)	N38S	probably benign	Het
Ncam1	A	T	9: 49,416,779 (GRCm39)	D837E	probably benign	Het
Ncam2	C	T	16: 81,386,679 (GRCm39)	P686L	possibly damaging	Het
Nck2	T	C	1: 43,500,231 (GRCm39)		probably benign	Het
Nfya	T	C	17: 48,707,563 (GRCm39)		probably benign	Het
Npat	A	G	9: 53,482,330 (GRCm39)	K1346R	probably damaging	Het
Odad2	C	G	18: 7,181,787 (GRCm39)	D846H	probably damaging	Het
Or12j3	G	T	7: 139,952,920 (GRCm39)	T201K	probably benign	Het
Or4a72	T	C	2: 89,406,023 (GRCm39)	T16A	probably damaging	Het
Or6c212	A	G	10: 129,558,681 (GRCm39)	V244A	probably benign	Het
Pde7b	G	T	10: 20,288,873 (GRCm39)	Q325K	probably damaging	Het
Pla2r1	A	T	2: 60,253,056 (GRCm39)	M1345K	probably benign	Het
Prkcz	T	C	4: 155,441,946 (GRCm39)	D62G	probably damaging	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,006,236 (GRCm39)	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,219,518 (GRCm39)	D225G	probably benign	Het
Recql4	G	A	15: 76,594,381 (GRCm39)	R46C	probably damaging	Het
Rnf220	C	T	4: 117,346,797 (GRCm39)	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,368,502 (GRCm39)	D11G	probably benign	Het
Scp2d1	T	A	2: 144,666,030 (GRCm39)	I123K	probably benign	Het
Skap1	A	T	11: 96,644,870 (GRCm39)	Y311F	probably damaging	Het
Slc2a10	T	C	2: 165,356,676 (GRCm39)	I112T	possibly damaging	Het
Slc34a1	G	A	13: 24,003,078 (GRCm39)	V243M	probably benign	Het
Slc39a2	G	A	14: 52,132,711 (GRCm39)	G218D	probably damaging	Het
Sos1	T	C	17: 80,742,381 (GRCm39)	N382S	probably benign	Het
Spam1	C	T	6: 24,796,655 (GRCm39)	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,589,820 (GRCm39)	Q142L	possibly damaging	Het
Tec	T	A	5: 72,939,365 (GRCm39)	R217*	probably null	Het
Tmeff2	T	A	1: 50,969,804 (GRCm39)	V90D	probably benign	Het
Tmem119	T	C	5: 113,933,405 (GRCm39)	Y132C	probably damaging	Het
Topbp1	A	G	9: 103,190,035 (GRCm39)	I204V	probably benign	Het
Trappc14	A	T	5: 138,260,641 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,601,232 (GRCm39)	I17001N	probably damaging	Het
Vit	T	A	17: 78,894,270 (GRCm39)	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,743 (GRCm39)	N305D	probably benign	Het
Vmn2r61	A	G	7: 41,916,520 (GRCm39)	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,314,435 (GRCm39)	Y384H	probably damaging	Het
Wiz	C	T	17: 32,580,570 (GRCm39)	A294T	probably benign	Het
Xdh	C	A	17: 74,231,931 (GRCm39)	V260L	possibly damaging	Het
Xirp2	A	G	2: 67,343,237 (GRCm39)	K1826R	probably benign	Het
Zfp445	A	C	9: 122,681,358 (GRCm39)	I861R	probably benign	Het
Zfp691	T	C	4: 119,027,999 (GRCm39)	T78A	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
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'- CGTGAACAGCTGATGATGCTC -3'
(R):5'- TCTGAAATAGGCCGGATGC -3'

Sequencing Primer
(F):5'- CAGCTGATGATGCTCATTGACAGC -3'
(R):5'- AGATGGTAACTTCAGGTTCCTTC -3'

Posted On

2016-04-15