Mutagenetix > Incidental Mutation

Incidental Mutation 'R2269:Agap2'

242332

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

040269-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R2269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126911154-126929039 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 126918297 bp (GRCm39)

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 benign
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 benign
Transcript: ENSMUST00000217941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218292

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (79/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Abca8a	A	C	11: 109,917,718 (GRCm39)	F1574V	probably damaging	Het
Adh6a	A	T	3: 138,034,857 (GRCm39)	I329L	probably benign	Het
Ager	A	T	17: 34,818,124 (GRCm39)	I185F	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Arhgef16	T	A	4: 154,369,490 (GRCm39)	H329L	probably damaging	Het
Astn1	T	C	1: 158,329,669 (GRCm39)	Y175H	probably damaging	Het
Banp	A	G	8: 122,702,662 (GRCm39)	T70A	probably benign	Het
Bcl11b	T	C	12: 107,881,910 (GRCm39)	T802A	possibly damaging	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Cflar	G	A	1: 58,780,206 (GRCm39)		probably null	Het
Clec16a	G	A	16: 10,462,650 (GRCm39)	R656H	probably damaging	Het
Cntn1	A	G	15: 92,192,863 (GRCm39)		probably benign	Het
Coasy	A	G	11: 100,976,708 (GRCm39)	T493A	probably benign	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,976 (GRCm39)	V83D	probably benign	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Decr2	C	A	17: 26,302,858 (GRCm39)	V173L	probably benign	Het
Defb11	A	G	8: 22,395,444 (GRCm39)	*78Q	probably null	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Dusp1	A	T	17: 26,726,093 (GRCm39)	I200N	probably damaging	Het
Efna1	G	A	3: 89,183,646 (GRCm39)	A60V	possibly damaging	Het
Egfl8	C	T	17: 34,832,832 (GRCm39)	V253M	probably damaging	Het
Epb41	T	A	4: 131,691,458 (GRCm39)	N623I	probably benign	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gbe1	C	T	16: 70,233,840 (GRCm39)	A239V	probably damaging	Het
Gpatch3	C	T	4: 133,311,118 (GRCm39)	A518V	possibly damaging	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,299 (GRCm39)	Y138H	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lrrc43	A	T	5: 123,641,354 (GRCm39)	T513S	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh5	T	C	15: 73,664,997 (GRCm39)	N258D	probably benign	Het
Mrpl28	T	C	17: 26,345,285 (GRCm39)	V235A	probably benign	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Nav1	A	T	1: 135,399,974 (GRCm39)	L532*	probably null	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or1e23	A	G	11: 73,407,309 (GRCm39)	S239P	probably damaging	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Pappa2	A	G	1: 158,684,841 (GRCm39)	M766T	probably damaging	Het
Pkhd1	C	T	1: 20,604,759 (GRCm39)		probably null	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Pxdn	T	A	12: 30,055,774 (GRCm39)	V1220E	probably damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rtel1	G	T	2: 180,977,796 (GRCm39)	Q292H	probably benign	Het
Sh3bp4	G	A	1: 89,073,314 (GRCm39)	V721I	possibly damaging	Het
Slc2a10	T	A	2: 165,356,701 (GRCm39)	C120*	probably null	Het
Srd5a2	T	C	17: 74,331,485 (GRCm39)	R171G	probably damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbx1	T	C	16: 18,400,744 (GRCm39)		probably null	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tmem252	T	C	19: 24,651,455 (GRCm39)	I8T	probably benign	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r107	T	C	17: 20,595,817 (GRCm39)	I790T	possibly damaging	Het
Vmn2r77	T	C	7: 86,460,897 (GRCm39)	V741A	probably benign	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Ylpm1	T	A	12: 85,061,824 (GRCm39)	V575E	unknown	Het
Zbp1	T	A	2: 173,060,616 (GRCm39)		probably benign	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zkscan5	A	G	5: 145,142,277 (GRCm39)	Y58C	probably damaging	Het

Other mutations in Agap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Agap2	APN	10	126,923,865 (GRCm39)	missense	unknown
IGL01690:Agap2	APN	10	126,918,827 (GRCm39)	splice site	probably benign
IGL01765:Agap2	APN	10	126,919,104 (GRCm39)	missense	unknown
IGL02029:Agap2	APN	10	126,916,152 (GRCm39)	missense	unknown
IGL02525:Agap2	APN	10	126,919,070 (GRCm39)	splice site	probably null
IGL03019:Agap2	APN	10	126,927,431 (GRCm39)	splice site	probably benign
R0086:Agap2	UTSW	10	126,923,751 (GRCm39)	splice site	probably null
R0197:Agap2	UTSW	10	126,927,571 (GRCm39)	missense	possibly damaging	0.66
R0345:Agap2	UTSW	10	126,923,764 (GRCm39)	missense	unknown
R0363:Agap2	UTSW	10	126,926,834 (GRCm39)	missense	probably damaging	1.00
R0682:Agap2	UTSW	10	126,919,351 (GRCm39)	missense	unknown
R0787:Agap2	UTSW	10	126,921,019 (GRCm39)	missense	unknown
R0882:Agap2	UTSW	10	126,923,319 (GRCm39)	missense	unknown
R0883:Agap2	UTSW	10	126,927,571 (GRCm39)	missense	possibly damaging	0.66
R1445:Agap2	UTSW	10	126,926,981 (GRCm39)	splice site	probably benign
R1800:Agap2	UTSW	10	126,927,540 (GRCm39)	missense	probably damaging	1.00
R1854:Agap2	UTSW	10	126,916,385 (GRCm39)	missense	unknown
R1925:Agap2	UTSW	10	126,926,744 (GRCm39)	missense	probably damaging	1.00
R1986:Agap2	UTSW	10	126,918,913 (GRCm39)	nonsense	probably null
R2050:Agap2	UTSW	10	126,916,130 (GRCm39)	nonsense	probably null
R2267:Agap2	UTSW	10	126,918,297 (GRCm39)	splice site	probably benign
R4174:Agap2	UTSW	10	126,926,383 (GRCm39)	missense	probably damaging	0.98
R4397:Agap2	UTSW	10	126,926,352 (GRCm39)	missense	unknown
R4418:Agap2	UTSW	10	126,927,519 (GRCm39)	missense	probably damaging	1.00
R4472:Agap2	UTSW	10	126,927,082 (GRCm39)	missense	probably damaging	1.00
R4612:Agap2	UTSW	10	126,915,965 (GRCm39)	missense	unknown
R4690:Agap2	UTSW	10	126,927,244 (GRCm39)	missense	possibly damaging	0.91
R4744:Agap2	UTSW	10	126,926,072 (GRCm39)	critical splice donor site	probably null
R5316:Agap2	UTSW	10	126,918,296 (GRCm39)	splice site	probably null
R5533:Agap2	UTSW	10	126,918,911 (GRCm39)	missense	probably damaging	1.00
R5680:Agap2	UTSW	10	126,923,880 (GRCm39)	missense	unknown
R6010:Agap2	UTSW	10	126,926,779 (GRCm39)	missense	probably damaging	1.00
R6276:Agap2	UTSW	10	126,925,229 (GRCm39)	critical splice donor site	probably null
R6356:Agap2	UTSW	10	126,918,865 (GRCm39)	missense	unknown
R7138:Agap2	UTSW	10	126,923,154 (GRCm39)	missense	unknown
R7154:Agap2	UTSW	10	126,927,524 (GRCm39)	missense	probably benign	0.34
R7497:Agap2	UTSW	10	126,926,834 (GRCm39)	missense	probably damaging	0.99
R7718:Agap2	UTSW	10	126,915,734 (GRCm39)	missense	possibly damaging	0.68
R7720:Agap2	UTSW	10	126,926,957 (GRCm39)	missense	probably damaging	0.96
R7893:Agap2	UTSW	10	126,916,064 (GRCm39)	missense	unknown
R7933:Agap2	UTSW	10	126,922,789 (GRCm39)	splice site	probably benign
R8337:Agap2	UTSW	10	126,924,194 (GRCm39)	missense	unknown
R8372:Agap2	UTSW	10	126,925,185 (GRCm39)	missense	unknown
R8428:Agap2	UTSW	10	126,923,175 (GRCm39)	missense	unknown
R8861:Agap2	UTSW	10	126,926,383 (GRCm39)	missense	unknown
R9082:Agap2	UTSW	10	126,918,911 (GRCm39)	missense	probably damaging	1.00
R9341:Agap2	UTSW	10	126,927,559 (GRCm39)	missense	unknown
R9354:Agap2	UTSW	10	126,923,104 (GRCm39)	missense	unknown
R9650:Agap2	UTSW	10	126,927,653 (GRCm39)	missense	unknown
R9745:Agap2	UTSW	10	126,919,380 (GRCm39)	missense	unknown
Z1088:Agap2	UTSW	10	126,924,111 (GRCm39)	missense	unknown
Z1176:Agap2	UTSW	10	126,916,094 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCTCACTCAGGGTTAGGTG -3'
(R):5'- GCATTTGCCCAGTTCTTGGC -3'

Sequencing Primer
(F):5'- TTAGGTGAGCCCCTCAGTAAAG -3'
(R):5'- CTGGGACAAACTGAAAGTGACTTAG -3'

Posted On

2014-10-16