Mutagenetix > Incidental Mutation

Incidental Mutation 'R1986:Agap2'

220687

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

039998-MU

Accession Numbers

Essential gene?

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

Stock #

R1986 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126911154-126929039 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 126918913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 430 (K430*)

Ref Sequence

ENSEMBL: ENSMUSP00000151946 (fasta)

Gene Model

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

AlphaFold

Q3UHD9

Predicted Effect

probably null
Transcript: ENSMUST00000039259
AA Change: K430*

SMART Domains

Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: K430*

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
AA Change: K430*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218292

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,212,977 (GRCm39)	S105P	probably damaging	Het
9930111J21Rik2	T	A	11: 48,910,119 (GRCm39)	K771N	possibly damaging	Het
Abcc2	A	G	19: 43,818,318 (GRCm39)	E1268G	probably damaging	Het
Adamts4	T	C	1: 171,084,244 (GRCm39)	F574L	possibly damaging	Het
Adamts9	A	G	6: 92,773,375 (GRCm39)	V1165A	probably benign	Het
Amn	G	T	12: 111,241,431 (GRCm39)	G232V	probably damaging	Het
Ank3	A	G	10: 69,703,258 (GRCm39)	E297G	probably damaging	Het
Arhgap45	T	C	10: 79,856,530 (GRCm39)	L26P	probably damaging	Het
Atp10b	C	A	11: 43,063,595 (GRCm39)	Q177K	probably benign	Het
Bbs10	A	T	10: 111,135,118 (GRCm39)	D77V	probably damaging	Het
Bltp2	A	T	11: 78,165,438 (GRCm39)	H1318L	probably damaging	Het
Bpifa1	T	A	2: 153,986,256 (GRCm39)	L127Q	probably damaging	Het
Brinp2	T	C	1: 158,074,348 (GRCm39)	N591S	probably damaging	Het
C2cd2	A	C	16: 97,671,471 (GRCm39)	V476G	probably damaging	Het
C7	T	A	15: 5,041,494 (GRCm39)	T471S	possibly damaging	Het
Cacna1b	A	T	2: 24,538,998 (GRCm39)	Y1488N	probably damaging	Het
Cadps2	A	G	6: 23,323,379 (GRCm39)	F1001L	probably damaging	Het
Ccdc188	T	C	16: 18,036,707 (GRCm39)	S216P	probably damaging	Het
Ccdc24	A	G	4: 117,729,213 (GRCm39)	L88P	probably damaging	Het
Dab1	T	C	4: 104,470,412 (GRCm39)	I65T	probably damaging	Het
Dock4	A	T	12: 40,780,062 (GRCm39)	D621V	probably damaging	Het
Drd5	A	T	5: 38,477,456 (GRCm39)	M150L	probably damaging	Het
Eef2k	T	A	7: 120,472,569 (GRCm39)	M94K	possibly damaging	Het
Epg5	A	G	18: 78,025,521 (GRCm39)		probably null	Het
Epsti1	T	C	14: 78,169,673 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,770,752 (GRCm39)	D754V	probably benign	Het
Fbxo6	A	G	4: 148,230,552 (GRCm39)	Y237H	probably damaging	Het
Fbxw24	A	G	9: 109,436,124 (GRCm39)	S303P	probably damaging	Het
Fpr-rs3	A	T	17: 20,844,103 (GRCm39)		probably null	Het
Gab1	G	T	8: 81,493,010 (GRCm39)	T679K	probably damaging	Het
Gbp9	C	A	5: 105,253,590 (GRCm39)	V42F	probably damaging	Het
Gbp9	A	T	5: 105,253,652 (GRCm39)	V21E	probably damaging	Het
Gm20821	A	G	Y: 9,783,927 (GRCm39)	Q183R	probably benign	Het
Gpatch11	A	T	17: 79,151,266 (GRCm39)	I226F	probably benign	Het
Hephl1	T	G	9: 14,965,848 (GRCm39)	E1035A	probably damaging	Het
Hspa4l	T	C	3: 40,714,833 (GRCm39)	V156A	probably damaging	Het
Ifna13	A	G	4: 88,562,588 (GRCm39)	V12A	probably benign	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Irgm2	A	G	11: 58,110,384 (GRCm39)	D37G	probably benign	Het
Irs1	A	G	1: 82,266,486 (GRCm39)	S577P	probably damaging	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Krtap4-16	T	C	11: 99,742,322 (GRCm39)	Q26R	unknown	Het
Lig1	T	A	7: 13,043,067 (GRCm39)	Y837*	probably null	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Map3k20	C	T	2: 72,271,638 (GRCm39)	Q589*	probably null	Het
Masp1	T	G	16: 23,302,211 (GRCm39)	M347L	probably benign	Het
Mgat3	A	T	15: 80,096,390 (GRCm39)	I406F	probably benign	Het
Mmp1b	T	G	9: 7,368,577 (GRCm39)	D425A	probably benign	Het
Mss51	T	C	14: 20,533,259 (GRCm39)	H404R	probably benign	Het
Myo15b	A	T	11: 115,773,701 (GRCm39)	H1911L	probably benign	Het
Nedd4l	A	G	18: 65,276,874 (GRCm39)	D102G	probably damaging	Het
Niban3	T	A	8: 72,056,404 (GRCm39)	I368N	possibly damaging	Het
Npc2	T	C	12: 84,807,523 (GRCm39)	K112E	probably benign	Het
Nuggc	T	A	14: 65,879,370 (GRCm39)	V694E	probably damaging	Het
Olfm1	T	G	2: 28,104,718 (GRCm39)	V157G	probably benign	Het
Or10h28	T	C	17: 33,488,489 (GRCm39)	S264P	probably benign	Het
Or5p55	T	C	7: 107,566,877 (GRCm39)	V91A	probably benign	Het
Otogl	T	A	10: 107,630,051 (GRCm39)		probably null	Het
Ovgp1	G	A	3: 105,882,251 (GRCm39)	C38Y	probably damaging	Het
Pisd	A	T	5: 32,894,672 (GRCm39)	S344T	probably damaging	Het
Psme4	T	C	11: 30,780,352 (GRCm39)	V840A	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Rin2	T	A	2: 145,720,860 (GRCm39)	M731K	probably damaging	Het
Scgb1b19	T	C	7: 32,987,108 (GRCm39)		probably null	Het
Serpina10	A	G	12: 103,594,514 (GRCm39)	I235T	possibly damaging	Het
Setbp1	T	A	18: 78,901,759 (GRCm39)	E636V	probably damaging	Het
Sh3d21	C	T	4: 126,056,290 (GRCm39)	E101K	probably damaging	Het
Ski	T	G	4: 155,306,148 (GRCm39)	D225A	probably damaging	Het
Slc28a2b	A	G	2: 122,357,910 (GRCm39)	T655A	probably benign	Het
Slc29a3	T	C	10: 60,559,593 (GRCm39)	Y187C	probably damaging	Het
Sort1	T	A	3: 108,253,043 (GRCm39)	D494E	possibly damaging	Het
Sphkap	A	T	1: 83,255,643 (GRCm39)	L702Q	probably damaging	Het
Srr	A	G	11: 74,799,545 (GRCm39)	I285T	probably damaging	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Suds3	A	T	5: 117,246,417 (GRCm39)	N112K	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tesk2	T	C	4: 116,608,390 (GRCm39)	L104P	probably damaging	Het
Tie1	C	T	4: 118,336,160 (GRCm39)	R702H	probably benign	Het
Tpo	G	T	12: 30,169,465 (GRCm39)	A90E	probably damaging	Het
Trim30a	T	C	7: 104,060,672 (GRCm39)	D368G	probably damaging	Het
Ugt2a2	A	T	5: 87,608,438 (GRCm39)	M633K	possibly damaging	Het
Vars2	A	G	17: 35,970,953 (GRCm39)	W626R	probably damaging	Het
Vmn2r10	A	T	5: 109,154,120 (GRCm39)	Y61*	probably null	Het
Vmn2r95	T	C	17: 18,671,805 (GRCm39)	V514A	probably benign	Het
Vwa5a	T	G	9: 38,649,110 (GRCm39)		probably benign	Het
Zfp365	A	T	10: 67,745,686 (GRCm39)	C31S	probably damaging	Het
Zfp397	A	T	18: 24,093,108 (GRCm39)	I198F	possibly damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp593	T	C	4: 133,972,206 (GRCm39)	E100G	possibly 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
R2050:Agap2	UTSW	10	126,916,130 (GRCm39)	nonsense	probably null
R2267:Agap2	UTSW	10	126,918,297 (GRCm39)	splice site	probably benign
R2269: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'- TTGATGGCTTGACACTGCCC -3'
(R):5'- TGAATACCGACCCTAGGCAG -3'

Sequencing Primer
(F):5'- CAGTCCCTGGTCATGAACAG -3'
(R):5'- TCCCGGATCAGCACCAGATG -3'

Posted On

2014-08-25