Mutagenetix > Incidental Mutation

Incidental Mutation 'R0787:Agap2'

76909

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

038967-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127075284-127093169 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127085150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 523 (D523E)

Ref Sequence

ENSEMBL: ENSMUSP00000151946 (fasta)

Gene Model

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

AlphaFold

Q3UHD9

Predicted Effect

unknown
Transcript: ENSMUST00000039259
AA Change: D523E

SMART Domains

Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: D523E

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

unknown
Transcript: ENSMUST00000217941
AA Change: D523E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218292

Meta Mutation Damage Score

0.2521

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	A	4: 107,890,129	L6Q	probably damaging	Het
1700001F09Rik	A	T	14: 43,345,493		probably null	Het
Abca8a	T	A	11: 110,042,988	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,798,516		probably null	Het
Adamts16	A	T	13: 70,738,829	C979S	probably damaging	Het
Ankfy1	T	A	11: 72,760,296	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,994,678	S379G	probably null	Het
Arhgap40	T	C	2: 158,547,790	S625P	probably benign	Het
Armc12	G	C	17: 28,538,766	A291P	probably damaging	Het
Armc9	A	G	1: 86,202,505	N524D	probably damaging	Het
Col12a1	G	T	9: 79,638,485	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,047,635	N277S	probably benign	Het
E130311K13Rik	A	T	3: 63,920,298	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,722,668	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,494,090	E58G	probably damaging	Het
Fam217b	T	A	2: 178,420,909	V222E	probably benign	Het
Fat1	T	A	8: 45,040,555	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,423,901		probably benign	Het
Hltf	A	T	3: 20,106,446	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,569,499		probably benign	Het
Isg15	C	T	4: 156,199,939	R44H	probably benign	Het
Itga4	C	T	2: 79,279,153	T232I	probably benign	Het
Kntc1	C	A	5: 123,796,104	H1399Q	probably benign	Het
Lig1	A	C	7: 13,299,069	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,454,231	C29F	probably damaging	Het
Mtmr10	T	C	7: 64,300,615	I136T	possibly damaging	Het
Naip1	A	G	13: 100,426,096	Y854H	probably benign	Het
Olfr770	T	C	10: 129,133,526	N81D	possibly damaging	Het
Pcdh9	G	A	14: 93,886,757	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,615,630		probably benign	Het
Phgdh	A	G	3: 98,334,549	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,690,523	M326K	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,076,177	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,529,264	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,364,956	T326A	probably damaging	Het
Prr22	A	T	17: 56,771,072	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,865,470		probably null	Het
Rasal2	A	G	1: 157,158,696	S766P	probably damaging	Het
Shmt1	T	C	11: 60,792,976	T337A	probably benign	Het
St5	G	T	7: 109,525,620	R1068S	possibly damaging	Het
Tbc1d4	A	T	14: 101,449,209	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,946,343	V1126A	probably benign	Het
Tep1	A	T	14: 50,829,230	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,789,561	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,370,484	I425V	probably benign	Het
Ubr3	T	C	2: 69,951,421		probably benign	Het
Ubxn7	T	A	16: 32,381,763		probably benign	Het
Vmn2r13	A	G	5: 109,156,847	S573P	probably damaging	Het
Wdfy3	A	T	5: 101,957,388	V191E	probably damaging	Het
Zdhhc3	A	T	9: 123,083,623	C153*	probably null	Het
Zfp407	A	T	18: 84,209,022	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,209,346	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,548	I227N	unknown	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
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
R6276:Agap2	UTSW	10	127089360	critical splice donor site	probably null
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
Z1088:Agap2	UTSW	10	127088242	missense	unknown
Z1176:Agap2	UTSW	10	127080225	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGAGGACAGATCGTCTCCCACAC -3'
(R):5'- GACTGATTCTCCAGCCCAGAAAGC -3'

Sequencing Primer
(F):5'- CACACTCTAGCTTTGGGAGGTC -3'
(R):5'- CACAGAACTGGATACTGGGTCTC -3'

Posted On

2013-10-16