Mutagenetix > Incidental Mutation

Incidental Mutation 'R7718:Agap2'

595056

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

045775-MU

Accession Numbers

Essential gene?

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

Stock #

R7718 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

126911154-126929039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126915734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 82 (S82G)

Ref Sequence

ENSEMBL: ENSMUSP00000043466 (fasta)

Gene Model

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

AlphaFold

Q3UHD9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039259
AA Change: S82G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: S82G

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: S82G

Meta Mutation Damage Score

0.0752

Coding Region Coverage

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

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	T	5: 138,646,122 (GRCm39)	H669L	possibly damaging	Het
Abcb1a	A	T	5: 8,765,788 (GRCm39)	N700I	probably damaging	Het
Abcc6	T	C	7: 45,626,816 (GRCm39)	K1414E	possibly damaging	Het
Adcy5	T	C	16: 35,100,785 (GRCm39)	V779A	probably benign	Het
Aldh1l1	A	G	6: 90,575,305 (GRCm39)	N864S	probably damaging	Het
Ang2	A	T	14: 51,433,217 (GRCm39)	V55E	probably benign	Het
Ank2	A	G	3: 126,758,662 (GRCm39)	M179T	possibly damaging	Het
Atrnl1	T	A	19: 57,728,615 (GRCm39)	C1090*	probably null	Het
Atxn1l	A	G	8: 110,459,866 (GRCm39)	L132P	probably damaging	Het
Bptf	A	G	11: 106,972,282 (GRCm39)	V862A	possibly damaging	Het
Capn11	C	A	17: 45,954,707 (GRCm39)	K143N	probably damaging	Het
Card6	A	G	15: 5,129,269 (GRCm39)	V709A	possibly damaging	Het
Cavin4	C	T	4: 48,671,984 (GRCm39)	A143V	probably benign	Het
Cntn5	A	G	9: 9,984,133 (GRCm39)	I160T	probably benign	Het
Cyp2c40	T	A	19: 39,755,782 (GRCm39)	N511Y	probably benign	Het
Dsc2	A	T	18: 20,174,835 (GRCm39)	I480N	probably damaging	Het
Elf2	G	T	3: 51,173,385 (GRCm39)		probably benign	Het
Enoph1	T	C	5: 100,210,019 (GRCm39)	V133A	possibly damaging	Het
Ezh2	A	T	6: 47,531,125 (GRCm39)	D186E	probably benign	Het
Fcgbpl1	T	C	7: 27,846,626 (GRCm39)	F1106S	probably damaging	Het
Gfra1	T	C	19: 58,441,889 (GRCm39)	D14G	possibly damaging	Het
Gmip	C	T	8: 70,270,383 (GRCm39)	R698W	probably damaging	Het
Grk4	A	G	5: 34,852,160 (GRCm39)	N135D	probably benign	Het
Hspb6	A	G	7: 30,253,772 (GRCm39)	D95G	probably benign	Het
Htatip2	T	G	7: 49,420,632 (GRCm39)	H159Q	possibly damaging	Het
Igfn1	T	C	1: 135,896,774 (GRCm39)	E1264G	probably benign	Het
Insyn2b	T	C	11: 34,352,539 (GRCm39)	S194P	probably benign	Het
Katnb1	T	A	8: 95,821,836 (GRCm39)	V223E	possibly damaging	Het
Klra6	AGG	AG	6: 129,990,315 (GRCm39)		probably null	Het
Masp2	C	T	4: 148,687,204 (GRCm39)	R29C	probably damaging	Het
Mcm3	A	T	1: 20,887,498 (GRCm39)	C123*	probably null	Het
Mdn1	T	C	4: 32,718,420 (GRCm39)	V2225A	probably damaging	Het
Me1	A	G	9: 86,561,953 (GRCm39)	L44S	probably damaging	Het
Mlxip	A	G	5: 123,583,577 (GRCm39)	N380S	probably benign	Het
Muc21	T	C	17: 35,933,728 (GRCm39)	T153A	unknown	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Myocd	A	T	11: 65,109,452 (GRCm39)	D106E	probably damaging	Het
Oat	T	C	7: 132,159,988 (GRCm39)	I411V	probably benign	Het
Or2d2	A	T	7: 106,727,925 (GRCm39)	V225D	probably damaging	Het
Or5p59	T	C	7: 107,702,855 (GRCm39)	V113A	probably benign	Het
Or8k38	A	G	2: 86,488,373 (GRCm39)	V143A	probably benign	Het
Orc2	A	T	1: 58,519,476 (GRCm39)	H246Q	possibly damaging	Het
Pank4	A	G	4: 155,059,100 (GRCm39)	E411G	probably damaging	Het
Patl2	A	T	2: 121,957,255 (GRCm39)		probably null	Het
Pcdhb15	A	G	18: 37,608,216 (GRCm39)	N483D	probably damaging	Het
Pcdhb20	A	G	18: 37,638,704 (GRCm39)	D410G	probably damaging	Het
Pdcl2	A	G	5: 76,465,846 (GRCm39)	C125R	probably damaging	Het
Peli3	C	G	19: 4,984,584 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,805,474 (GRCm39)	D3313G	probably benign	Het
Plec	A	C	15: 76,061,639 (GRCm39)	M2766R	probably damaging	Het
Ppargc1a	C	T	5: 51,655,504 (GRCm39)	V99M	probably damaging	Het
Prr35	T	A	17: 26,165,998 (GRCm39)	R430*	probably null	Het
Psg19	G	A	7: 18,526,368 (GRCm39)	A374V	probably benign	Het
Psmd7	A	T	8: 108,313,261 (GRCm39)	F54L	possibly damaging	Het
Ptbp2	C	T	3: 119,514,637 (GRCm39)	G397R	probably null	Het
Ranbp3	A	G	17: 57,003,718 (GRCm39)	D39G	probably damaging	Het
Rcor3	T	C	1: 191,786,021 (GRCm39)	T406A	probably benign	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Ripk2	T	C	4: 16,151,968 (GRCm39)	N197S	possibly damaging	Het
Rpia	A	T	6: 70,743,602 (GRCm39)	M283K	probably damaging	Het
Rps6kc1	T	C	1: 190,604,022 (GRCm39)	D200G	probably benign	Het
Sipa1l1	A	T	12: 82,389,271 (GRCm39)	K499M	probably damaging	Het
Slc5a4b	A	G	10: 75,906,407 (GRCm39)	L404P	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spmip4	G	A	6: 50,566,078 (GRCm39)		probably null	Het
St7	A	C	6: 17,854,998 (GRCm39)	T312P	probably damaging	Het
Strbp	T	C	2: 37,515,294 (GRCm39)	E244G	probably damaging	Het
Tbc1d8	T	G	1: 39,416,061 (GRCm39)	T871P	probably benign	Het
Tcp1	T	A	17: 13,141,049 (GRCm39)	I286N	probably damaging	Het
Tead3	C	A	17: 28,552,491 (GRCm39)	V327F	probably damaging	Het
Tmem132c	A	T	5: 127,640,504 (GRCm39)	T892S	probably benign	Het
Trmt2a	T	C	16: 18,068,487 (GRCm39)	S65P	probably benign	Het
Ubp1	A	G	9: 113,802,597 (GRCm39)	N479S	possibly damaging	Het
Ubtfl1	A	T	9: 18,320,527 (GRCm39)	L18F	possibly damaging	Het
Uevld	T	G	7: 46,587,804 (GRCm39)	M299L	probably benign	Het
Unc13b	T	A	4: 43,173,854 (GRCm39)	Y1561N	unknown	Het
Ylpm1	A	G	12: 85,075,896 (GRCm39)	K874E	probably damaging	Het
Zbtb37	G	A	1: 160,859,802 (GRCm39)	R168W	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
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
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
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'- AACGACCTACCTCATCTCGCTG -3'
(R):5'- TCACGGTCTTGAAAGGCTTG -3'

Sequencing Primer
(F):5'- TGGTCAAGCTCGAGTCGGTAC -3'
(R):5'- CTCGGGCTGCTGAGTAGAG -3'

Posted On

2019-11-12