Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Agap2'

507657

Institutional Source

Beutler Lab

Gene Symbol

Agap2

Ensembl Gene

ENSMUSG00000025422

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

Synonyms

Centg1

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.486) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127075284-127093169 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 127089360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000217941]

AlphaFold

Q3UHD9

Predicted Effect

probably null
Transcript: ENSMUST00000039259

SMART Domains

Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
low complexity region	86	111	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
low complexity region	137	149	N/A	INTRINSIC
low complexity region	151	176	N/A	INTRINSIC
low complexity region	179	195	N/A	INTRINSIC
low complexity region	197	207	N/A	INTRINSIC
low complexity region	222	257	N/A	INTRINSIC
low complexity region	306	322	N/A	INTRINSIC
low complexity region	349	376	N/A	INTRINSIC
Pfam:Ras	402	562	3.6e-16	PFAM
low complexity region	575	590	N/A	INTRINSIC
low complexity region	600	609	N/A	INTRINSIC
PH	671	906	4.35e-14	SMART
ArfGap	925	1045	8.8e-62	SMART
low complexity region	1052	1071	N/A	INTRINSIC
ANK	1084	1113	1.15e0	SMART
ANK	1117	1145	3.69e2	SMART
low complexity region	1148	1175	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000217941

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the centaurin GTPase family. This gene product regulates the activity of multiple kinases, including PI3K. Reduced expression of this gene results in multiple defects, including neural deficiencies, while increased expression of this gene has been observed in some tumors. Alternative splicing results in multiple protein isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired lactation due to abnormal mammary gland growth during lactation, failure of insulin-suppressed gluconeogenesis, and hyperglycemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079	T65I	probably damaging	Het
Ager	T	C	17: 34,598,754	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578		probably null	Het
Gm6811	T	A	17: 21,093,983		noncoding transcript	Het
Gm6811	T	G	17: 21,094,690		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902	C105*	probably null	Het
Lama1	G	A	17: 67,784,088		probably null	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839		probably null	Het
Map2	T	C	1: 66,399,419	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767		probably null	Het
Pcdhb11	G	A	18: 37,421,760	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Pck2	T	A	14: 55,542,624	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phactr3	G	A	2: 178,279,019	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,323,203		probably benign	Het
Prodh2	A	G	7: 30,506,651	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Smn1	A	G	13: 100,127,995	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604		probably null	Het
Zscan2	A	G	7: 80,875,809	N426S	probably benign	Het

Other mutations in Agap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Agap2	APN	10	127087996	missense	unknown
IGL01690:Agap2	APN	10	127082958	splice site	probably benign
IGL01765:Agap2	APN	10	127083235	missense	unknown
IGL02029:Agap2	APN	10	127080283	missense	unknown
IGL02525:Agap2	APN	10	127083201	splice site	probably null
IGL03019:Agap2	APN	10	127091562	splice site	probably benign
R0086:Agap2	UTSW	10	127087882	splice site	probably null
R0197:Agap2	UTSW	10	127091702	missense	possibly damaging	0.66
R0345:Agap2	UTSW	10	127087895	missense	unknown
R0363:Agap2	UTSW	10	127090965	missense	probably damaging	1.00
R0682:Agap2	UTSW	10	127083482	missense	unknown
R0787:Agap2	UTSW	10	127085150	missense	unknown
R0882:Agap2	UTSW	10	127087450	missense	unknown
R0883:Agap2	UTSW	10	127091702	missense	possibly damaging	0.66
R1445:Agap2	UTSW	10	127091112	splice site	probably benign
R1800:Agap2	UTSW	10	127091671	missense	probably damaging	1.00
R1854:Agap2	UTSW	10	127080516	missense	unknown
R1925:Agap2	UTSW	10	127090875	missense	probably damaging	1.00
R1986:Agap2	UTSW	10	127083044	nonsense	probably null
R2050:Agap2	UTSW	10	127080261	nonsense	probably null
R2267:Agap2	UTSW	10	127082428	splice site	probably benign
R2269:Agap2	UTSW	10	127082428	splice site	probably benign
R4174:Agap2	UTSW	10	127090514	missense	probably damaging	0.98
R4397:Agap2	UTSW	10	127090483	missense	unknown
R4418:Agap2	UTSW	10	127091650	missense	probably damaging	1.00
R4472:Agap2	UTSW	10	127091213	missense	probably damaging	1.00
R4612:Agap2	UTSW	10	127080096	missense	unknown
R4690:Agap2	UTSW	10	127091375	missense	possibly damaging	0.91
R4744:Agap2	UTSW	10	127090203	critical splice donor site	probably null
R5316:Agap2	UTSW	10	127082427	splice site	probably null
R5533:Agap2	UTSW	10	127083042	missense	probably damaging	1.00
R5680:Agap2	UTSW	10	127088011	missense	unknown
R6010:Agap2	UTSW	10	127090910	missense	probably damaging	1.00
R6356:Agap2	UTSW	10	127082996	missense	unknown
R7138:Agap2	UTSW	10	127087285	missense	unknown
R7154:Agap2	UTSW	10	127091655	missense	probably benign	0.34
R7497:Agap2	UTSW	10	127090965	missense	probably damaging	0.99
R7718:Agap2	UTSW	10	127079865	missense	possibly damaging	0.68
R7720:Agap2	UTSW	10	127091088	missense	probably damaging	0.96
R7893:Agap2	UTSW	10	127080195	missense	unknown
R7933:Agap2	UTSW	10	127086920	splice site	probably benign
R8337:Agap2	UTSW	10	127088325	missense	unknown
R8372:Agap2	UTSW	10	127089316	missense	unknown
R8428:Agap2	UTSW	10	127087306	missense	unknown
R8861:Agap2	UTSW	10	127090514	missense	unknown
R9082:Agap2	UTSW	10	127083042	missense	probably damaging	1.00
R9341:Agap2	UTSW	10	127091690	missense	unknown
R9354:Agap2	UTSW	10	127087235	missense	unknown
R9650:Agap2	UTSW	10	127091784	missense	unknown
R9745:Agap2	UTSW	10	127083511	missense	unknown
Z1088:Agap2	UTSW	10	127088242	missense	unknown
Z1176:Agap2	UTSW	10	127080225	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCCAGTTAGTTCAGGGCAG -3'
(R):5'- GCTGCAGAACTAGATGTGGG -3'

Sequencing Primer
(F):5'- CCAGTTAGTTCAGGGCAGGATAC -3'
(R):5'- TGCAGAACTAGATGTGGGTGCAG -3'

Posted On

2018-03-15