Mutagenetix > Incidental Mutation

Incidental Mutation 'R6300:Arfgap2'

509010

Institutional Source

Beutler Lab

Gene Symbol

Arfgap2

Ensembl Gene

ENSMUSG00000027255

Gene Name

ADP-ribosylation factor GTPase activating protein 2

Synonyms

Zfp289, 2310032E02Rik

MMRRC Submission

044409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R6300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91095319-91107276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91097540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 112 (Q112R)

Ref Sequence

ENSEMBL: ENSMUSP00000078920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028691] [ENSMUST00000028694] [ENSMUST00000059566] [ENSMUST00000080008] [ENSMUST00000111349] [ENSMUST00000168916]

AlphaFold

Q99K28

Predicted Effect

probably benign
Transcript: ENSMUST00000028691
AA Change: Q112R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
AA Change: Q112R

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: ENSMUST00000028694

SMART Domains

Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART
low complexity region	337	349	N/A	INTRINSIC
SH3	366	423	1.03e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059566

SMART Domains

Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART
low complexity region	337	349	N/A	INTRINSIC
SH3	366	423	1.03e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080008
AA Change: Q112R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
AA Change: Q112R

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: ENSMUST00000111349

SMART Domains

Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART
low complexity region	337	349	N/A	INTRINSIC
SH3	366	423	1.03e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150753

Predicted Effect

probably benign
Transcript: ENSMUST00000128684

SMART Domains

Protein: ENSMUSP00000118915
Gene: ENSMUSG00000027257

Domain	Start	End	E-Value	Type
PDB:3SYV\|H	2	61	3e-37	PDB
low complexity region	62	74	N/A	INTRINSIC
SCOP:d1k4us_	86	112	6e-7	SMART
PDB:2X3X\|E	88	112	7e-7	PDB
Blast:SH3	91	112	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000168916

SMART Domains

Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257

Domain	Start	End	E-Value	Type
FCH	14	102	2.05e-21	SMART
low complexity region	337	349	N/A	INTRINSIC
SH3	366	423	1.03e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146228

Meta Mutation Damage Score

0.0631

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (72/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,642,885 (GRCm39)	T185A	possibly damaging	Het
4932414N04Rik	A	G	2: 68,561,453 (GRCm39)	Y260C	possibly damaging	Het
Adamtsl1	G	A	4: 86,166,254 (GRCm39)	G395S	probably damaging	Het
Amn	T	C	12: 111,240,623 (GRCm39)	L85P	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apip	C	T	2: 102,917,498 (GRCm39)	R66C	possibly damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Apol6	A	T	15: 76,935,471 (GRCm39)	I247L	probably benign	Het
Armh1	A	G	4: 117,088,979 (GRCm39)	Y139H	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cct2	C	T	10: 116,892,064 (GRCm39)	G328D	probably damaging	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cers5	G	T	15: 99,670,100 (GRCm39)	A54E	probably damaging	Het
Ctdp1	T	A	18: 80,502,455 (GRCm39)	M152L	probably benign	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Defb36	T	A	2: 152,454,418 (GRCm39)	W26R	probably damaging	Het
Dnah17	T	C	11: 117,925,136 (GRCm39)	E3899G	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Duox1	T	G	2: 122,168,181 (GRCm39)	L1102R	probably damaging	Het
Dzip3	A	G	16: 48,772,170 (GRCm39)	S500P	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Hoxd3	A	G	2: 74,574,420 (GRCm39)	Y22C	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il6ra	A	G	3: 89,794,436 (GRCm39)	V175A	probably damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Marchf10	T	C	11: 105,273,063 (GRCm39)	E692G	probably damaging	Het
Mars1	G	A	10: 127,132,429 (GRCm39)	T856M	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pepd	G	A	7: 34,668,968 (GRCm39)	R196H	probably damaging	Het
Pla2g4e	A	T	2: 120,013,219 (GRCm39)	M367K	probably benign	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Serpina3k	A	T	12: 104,306,981 (GRCm39)	N71I	probably damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Smc4	T	C	3: 68,935,224 (GRCm39)	V771A	probably benign	Het
Snapc4	A	G	2: 26,268,563 (GRCm39)	S33P	probably benign	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tjp3	T	A	10: 81,116,951 (GRCm39)	R193*	probably null	Het
Tm7sf2	A	T	19: 6,117,230 (GRCm39)	W58R	probably damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Utrn	T	A	10: 12,377,220 (GRCm39)	Y2612F	probably benign	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp382	G	A	7: 29,831,054 (GRCm39)		probably null	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably damaging	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
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'- AGACGTTTACCTCTTTGAAAACCTG -3'
(R):5'- TGGAGCACTGTTCATACTGTC -3'

Sequencing Primer
(F):5'- CTCTTTGAAAACCTGCTGATGTCAG -3'
(R):5'- GTTCATACTGTCTATCCAAAGCTGG -3'

Posted On

2018-04-02