Mutagenetix > Incidental Mutation

Incidental Mutation 'R4744:Agap2'

356591

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

042027-MU

Accession Numbers

Essential gene?

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

Stock #

R4744 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

126911154-126929039 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 126926072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043466 (fasta)

Gene Model

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

AlphaFold

Q3UHD9

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (82/83)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,017,617 (GRCm39)	S143P	possibly damaging	Het
4933427D14Rik	T	C	11: 72,066,365 (GRCm39)	K614E	probably damaging	Het
Aatk	A	G	11: 119,906,948 (GRCm39)	M155T	possibly damaging	Het
Acvr2b	T	C	9: 119,260,328 (GRCm39)	L333P	probably damaging	Het
Adam22	T	C	5: 8,128,699 (GRCm39)	E865G	probably damaging	Het
Add2	A	G	6: 86,087,870 (GRCm39)	S358G	probably damaging	Het
Alkbh8	G	A	9: 3,344,604 (GRCm39)	W49*	probably null	Het
AU015228	A	T	2: 129,942,549 (GRCm39)		noncoding transcript	Het
Bank1	G	T	3: 135,953,450 (GRCm39)	R102S	probably benign	Het
Brap	T	A	5: 121,800,193 (GRCm39)	D27E	probably damaging	Het
Cyb5r2	G	T	7: 107,349,484 (GRCm39)	H276N	possibly damaging	Het
Dhh	A	G	15: 98,792,139 (GRCm39)	F290L	possibly damaging	Het
Dhrs7	T	A	12: 72,699,025 (GRCm39)	N319I	possibly damaging	Het
Ebpl	A	G	14: 61,597,682 (GRCm39)	V53A	probably damaging	Het
Eif3j2	TGCCGCCGCCGCCGCCGCCGCCGCCGCC	TGCCGCCGCCGCCGCCGCCGCCGCC	18: 43,610,782 (GRCm39)		probably benign	Het
Etnk1	A	C	6: 143,132,319 (GRCm39)	N220T	probably damaging	Het
F11r	T	A	1: 171,288,166 (GRCm39)	V64D	probably benign	Het
Fam171a1	T	C	2: 3,225,946 (GRCm39)	S360P	probably damaging	Het
Fignl1	A	G	11: 11,751,585 (GRCm39)	M490T	probably damaging	Het
Fpr-rs7	A	T	17: 20,334,265 (GRCm39)	M75K	probably benign	Het
Fzd7	T	A	1: 59,523,595 (GRCm39)	F493I	possibly damaging	Het
Galnt14	G	T	17: 73,814,828 (GRCm39)	P412T	probably damaging	Het
Gcg	T	A	2: 62,308,975 (GRCm39)	S60C	probably damaging	Het
Ggt1	A	G	10: 75,421,733 (GRCm39)	K527E	probably benign	Het
Gm16551	T	A	9: 74,758,153 (GRCm39)		noncoding transcript	Het
Gm9972	A	G	11: 42,927,517 (GRCm39)	K55E	unknown	Het
Gpr141	T	A	13: 19,935,884 (GRCm39)	D297V	probably benign	Het
Grin2b	G	A	6: 135,755,697 (GRCm39)	S539L	probably damaging	Het
Hhipl1	A	T	12: 108,286,238 (GRCm39)	N515I	possibly damaging	Het
Hmcn1	T	G	1: 150,453,363 (GRCm39)	E5317D	probably damaging	Het
Hsf5	T	A	11: 87,513,617 (GRCm39)	N227K	probably benign	Het
Igfn1	A	T	1: 135,910,196 (GRCm39)	D129E	probably benign	Het
Invs	T	C	4: 48,397,609 (GRCm39)	F339L	probably damaging	Het
Jak2	T	A	19: 29,239,656 (GRCm39)	S17T	probably benign	Het
Mdga2	T	A	12: 66,844,501 (GRCm39)	I166F	probably benign	Het
Nck1	T	C	9: 100,388,797 (GRCm39)	I6V	probably benign	Het
Neb	T	C	2: 52,040,589 (GRCm39)	D6624G	probably benign	Het
Nmur2	A	G	11: 55,931,661 (GRCm39)	Y17H	probably benign	Het
Nwd2	T	C	5: 63,964,310 (GRCm39)	L1298P	probably damaging	Het
Ocel1	A	G	8: 71,825,397 (GRCm39)	E161G	probably damaging	Het
Or1j16	A	T	2: 36,530,991 (GRCm39)		probably null	Het
Pabpc2	A	G	18: 39,907,881 (GRCm39)	Y382C	probably benign	Het
Panx1	A	G	9: 14,921,594 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,872,641 (GRCm39)	V147D	probably benign	Het
Pigz	A	T	16: 31,764,151 (GRCm39)	H403L	probably damaging	Het
Pilra	T	C	5: 137,833,769 (GRCm39)		probably null	Het
Rbm47	T	C	5: 66,184,036 (GRCm39)	D189G	probably damaging	Het
Rhobtb2	A	G	14: 70,031,451 (GRCm39)	L558P	probably damaging	Het
Scarf2	G	A	16: 17,621,380 (GRCm39)	R322H	probably damaging	Het
Septin3	T	C	15: 82,174,658 (GRCm39)		probably null	Het
Sirt2	T	C	7: 28,476,438 (GRCm39)	F26L	probably damaging	Het
Slc1a1	A	T	19: 28,871,925 (GRCm39)	T133S	probably benign	Het
Slc1a2	A	G	2: 102,568,214 (GRCm39)	I84V	probably benign	Het
Slc28a2b	A	T	2: 122,353,286 (GRCm39)	K489*	probably null	Het
Slc6a9	A	T	4: 117,725,092 (GRCm39)	Q562L	probably benign	Het
Snx29	C	T	16: 11,167,773 (GRCm39)	Q25*	probably null	Het
St6galnac6	A	G	2: 32,508,555 (GRCm39)	I231V	probably damaging	Het
Stard9	A	G	2: 120,526,604 (GRCm39)	T954A	probably benign	Het
Sufu	A	G	19: 46,472,069 (GRCm39)	M443V	possibly damaging	Het
Sv2b	T	C	7: 74,856,266 (GRCm39)	D8G	probably benign	Het
Tapbpl	G	A	6: 125,205,248 (GRCm39)	R233W	probably damaging	Het
Tex10	A	G	4: 48,469,990 (GRCm39)	L25S	probably benign	Het
Trp53bp1	A	T	2: 121,041,794 (GRCm39)	V1254D	probably damaging	Het
Ugt3a1	T	A	15: 9,310,639 (GRCm39)	I307N	probably benign	Het
Unc13c	T	C	9: 73,839,126 (GRCm39)	D575G	probably damaging	Het
Usf2	A	T	7: 30,654,197 (GRCm39)	D166E	probably damaging	Het
Usp25	T	A	16: 76,911,877 (GRCm39)	L969M	probably damaging	Het
Usp32	G	A	11: 84,885,219 (GRCm39)	P1276L	probably damaging	Het
Vmn2r8	T	A	5: 108,956,447 (GRCm39)	E58D	probably benign	Het
Zfp462	G	T	4: 55,011,598 (GRCm39)	C40F	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
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
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'- CAGACCTGCCTATTCTCACG -3'
(R):5'- AGTTCAAGCAGGAGGCCTTC -3'

Sequencing Primer
(F):5'- ACGGCTCTTGGCTTCCG -3'
(R):5'- GGAGGCCTTCCCCCAAAC -3'

Posted On

2015-11-11