Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Agap2'

595183

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127075284-127093169 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127091088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1018 (D1018G)

Ref Sequence

ENSEMBL: ENSMUSP00000043466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000217941]

AlphaFold

Q3UHD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000039259
AA Change: D1018G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: D1018G

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 benign
Transcript: ENSMUST00000080975

SMART Domains

Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	54	65	N/A	INTRINSIC
Pfam:PRKCSH	108	181	2.3e-19	PFAM
low complexity region	317	331	N/A	INTRINSIC
low complexity region	337	346	N/A	INTRINSIC
coiled coil region	418	449	N/A	INTRINSIC
low complexity region	518	533	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164259

SMART Domains

Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	54	65	N/A	INTRINSIC
Pfam:PRKCSH	108	181	8.6e-19	PFAM
low complexity region	317	331	N/A	INTRINSIC
low complexity region	337	346	N/A	INTRINSIC
coiled coil region	418	449	N/A	INTRINSIC
low complexity region	518	551	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217941
AA Change: D998G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.1065

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,102	C148S	probably damaging	Het
4921530L21Rik	A	G	14: 95,882,112	R102G	probably benign	Het
A230050P20Rik	C	T	9: 20,868,859		probably benign	Het
Atm	T	C	9: 53,522,239	N237S	possibly damaging	Het
Card6	G	T	15: 5,098,423	Q1164K	unknown	Het
Cped1	G	A	6: 22,222,431	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257	S342P	probably damaging	Het
Fam71d	T	C	12: 78,712,133	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959	I129V	probably benign	Het
Gm5415	T	C	1: 32,546,097	D244G	probably benign	Het
Gria4	A	T	9: 4,464,288	V558D	probably damaging	Het
Gsdme	C	T	6: 50,229,308	G185E	probably damaging	Het
Hgd	T	A	16: 37,593,435	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022	N127D	probably damaging	Het
Ilf3	A	G	9: 21,399,537	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,868,083	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,182,355	V1670A	probably benign	Het
Lman2	A	T	13: 55,353,077		probably null	Het
Ltbp1	A	T	17: 75,385,124	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921	S188N	probably damaging	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Olfr709-ps1	C	A	7: 106,927,411	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218	P5A	probably damaging	Het
Plekha6	T	C	1: 133,293,707	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,861,335	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430	Y325C	possibly damaging	Het
Shcbp1	A	C	8: 4,748,720	S400A	probably damaging	Het
Sirpb1c	T	A	3: 15,832,072	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356	Q29L	probably benign	Het
Wipi1	G	T	11: 109,582,423	S250Y	probably damaging	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
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
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'- CATCGAGTGTTCTGGCATCC -3'
(R):5'- TAATGACAACGTGGGCGAGC -3'

Sequencing Primer
(F):5'- AGTGTTCTGGCATCCACCGG -3'
(R):5'- ACAGCGGCCCACAGTTG -3'

Posted On

2019-11-12