Mutagenetix > Incidental Mutation

Incidental Mutation 'R7138:Agap2'

553209

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

045249-MU

Accession Numbers

Essential gene?

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

Stock #

R7138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126911154-126929039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126923154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 663 (T663A)

Ref Sequence

ENSEMBL: ENSMUSP00000043466 (fasta)

Gene Model

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

AlphaFold

Q3UHD9

Predicted Effect

unknown
Transcript: ENSMUST00000039259
AA Change: T663A

SMART Domains

Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: T663A

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
AA Change: T663A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

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

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,113 (GRCm39)	C698*	probably null	Het
Acacb	G	A	5: 114,345,387 (GRCm39)	V947M	probably benign	Het
Acadsb	T	G	7: 131,042,968 (GRCm39)	L343R	probably damaging	Het
Adgrf2	C	T	17: 43,021,874 (GRCm39)	E317K	probably damaging	Het
Akap8	A	T	17: 32,535,515 (GRCm39)	F166L	possibly damaging	Het
Ankrd17	A	T	5: 90,390,836 (GRCm39)	M2278K	probably benign	Het
Avl9	T	C	6: 56,705,242 (GRCm39)	S148P	probably damaging	Het
Brf1	T	C	12: 112,933,835 (GRCm39)	E266G	probably damaging	Het
Cabin1	T	C	10: 75,581,187 (GRCm39)	K380E	probably damaging	Het
Catsper2	T	C	2: 121,227,544 (GRCm39)	D542G	possibly damaging	Het
Cbln4	C	A	2: 171,884,095 (GRCm39)	D42Y	probably damaging	Het
Ccn6	T	A	10: 39,034,473 (GRCm39)	Q43L	possibly damaging	Het
Cd5	C	T	19: 10,697,668 (GRCm39)	R437Q	probably damaging	Het
Ceacam18	G	C	7: 43,288,706 (GRCm39)	E152D	possibly damaging	Het
Chd8	A	G	14: 52,451,955 (GRCm39)	S1347P	possibly damaging	Het
Chodl	T	G	16: 78,738,335 (GRCm39)	I101R	probably damaging	Het
Clk4	T	G	11: 51,168,759 (GRCm39)	F377L	probably damaging	Het
Cntnap3	C	T	13: 64,929,539 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,458,780 (GRCm39)	S231G	probably benign	Het
Disp2	T	A	2: 118,617,361 (GRCm39)	H118Q	probably benign	Het
Dnah10	T	C	5: 124,900,009 (GRCm39)	F3869S	probably damaging	Het
Edil3	C	T	13: 89,279,847 (GRCm39)	T175I	probably damaging	Het
Eif1ad18	T	G	12: 88,050,648 (GRCm39)	I61R	probably damaging	Het
Fap	A	G	2: 62,372,522 (GRCm39)	S319P	probably benign	Het
Frmpd2	T	A	14: 33,293,761 (GRCm39)	V1309E	probably benign	Het
Galntl5	T	A	5: 25,394,842 (GRCm39)	S70T	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gna15	G	A	10: 81,343,881 (GRCm39)	T260M	probably damaging	Het
Gucy2c	A	G	6: 136,705,342 (GRCm39)	I531T	probably damaging	Het
Heatr5b	A	G	17: 79,135,417 (GRCm39)	V238A	probably damaging	Het
Htr2a	A	G	14: 74,943,182 (GRCm39)	Y254C	probably damaging	Het
Inpp5b	A	G	4: 124,679,065 (GRCm39)	R491G	probably damaging	Het
Kcnt2	C	T	1: 140,523,778 (GRCm39)	L1093F	possibly damaging	Het
Kcp	C	A	6: 29,491,861 (GRCm39)	E922*	probably null	Het
Lrp2	G	A	2: 69,296,089 (GRCm39)	A3340V	possibly damaging	Het
Lrrn1	T	G	6: 107,545,336 (GRCm39)	V378G	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Net1	G	A	13: 3,938,510 (GRCm39)	R126C	probably damaging	Het
Nipsnap3a	T	C	4: 52,993,978 (GRCm39)	C20R	probably benign	Het
Nxpe2	C	T	9: 48,232,006 (GRCm39)	C317Y	probably damaging	Het
Or10v9	T	A	19: 11,832,652 (GRCm39)	I222F	probably damaging	Het
Or52h1	T	C	7: 103,829,504 (GRCm39)	Y37C	probably damaging	Het
Or8b8	T	C	9: 37,809,360 (GRCm39)	I220T	probably damaging	Het
Or8g54	T	G	9: 39,707,086 (GRCm39)	Y138*	probably null	Het
Orm1	T	A	4: 63,262,949 (GRCm39)	W39R	probably damaging	Het
Pds5b	A	T	5: 150,724,142 (GRCm39)	K1240*	probably null	Het
Pdss1	T	A	2: 22,802,681 (GRCm39)	H173Q	probably damaging	Het
Pebp1	A	G	5: 117,423,882 (GRCm39)	W84R	probably damaging	Het
Pla2g4e	C	T	2: 120,001,759 (GRCm39)	C630Y	probably damaging	Het
Plaat3	T	A	19: 7,556,550 (GRCm39)	V117E	probably damaging	Het
Plekho2	G	T	9: 65,463,635 (GRCm39)	Q405K	probably benign	Het
Plppr2	T	A	9: 21,855,708 (GRCm39)	V227E	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,589 (GRCm39)	D229E	probably benign	Het
Rapgef4	T	C	2: 72,028,707 (GRCm39)	S393P	probably damaging	Het
Rapgefl1	A	G	11: 98,737,900 (GRCm39)		probably null	Het
Ripk3	C	A	14: 56,025,803 (GRCm39)	R19L	probably benign	Het
Rnase10	G	T	14: 51,247,167 (GRCm39)	V182F	probably damaging	Het
Rsf1	T	A	7: 97,319,002 (GRCm39)	S917R		Het
Sephs2	T	C	7: 126,872,187 (GRCm39)	N302S	possibly damaging	Het
Slc13a2	C	T	11: 78,289,950 (GRCm39)	V455M	possibly damaging	Het
Slc30a2	A	T	4: 134,071,429 (GRCm39)	D54V	probably benign	Het
Slco6c1	T	C	1: 97,047,706 (GRCm39)	E199G	possibly damaging	Het
Snx27	A	T	3: 94,436,247 (GRCm39)	M256K	probably benign	Het
Spag4	T	A	2: 155,908,519 (GRCm39)	S150T	probably benign	Het
Spon1	T	A	7: 113,635,945 (GRCm39)	C720S	probably damaging	Het
Tbc1d22a	T	C	15: 86,123,356 (GRCm39)	S166P	probably benign	Het
Tbc1d9	T	C	8: 83,937,113 (GRCm39)	I65T	probably damaging	Het
Tmem176a	T	A	6: 48,820,953 (GRCm39)	V141D	probably damaging	Het
Tmem268	G	A	4: 63,480,687 (GRCm39)		probably benign	Het
Tonsl	A	G	15: 76,518,976 (GRCm39)	V519A	probably benign	Het
Ttn	G	A	2: 76,612,376 (GRCm39)	P17204S	possibly damaging	Het
Wrap53	T	A	11: 69,454,694 (GRCm39)	D225V	probably benign	Het
Zfhx4	G	A	3: 5,477,107 (GRCm39)	A3241T	possibly damaging	Het
Zfp1002	T	C	2: 150,097,372 (GRCm39)	H47R	probably damaging	Het
Znfx1	T	C	2: 166,898,697 (GRCm39)	R76G	probably benign	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
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'- AGGGTCCTTACACAGAGCAG -3'
(R):5'- CCATTGCTGGACAAGGTCAC -3'

Sequencing Primer
(F):5'- GGTATTGACCATGCTAACCCC -3'
(R):5'- GCTGGACAAGGTCACATATTTC -3'

Posted On

2019-05-15