|Institutional Source||Beutler Lab|
|Gene Name||ArfGAP with GTPase domain, ankyrin repeat and PH domain 2|
|Is this an essential gene?||Probably non essential (E-score: 0.234)|
|Stock #||R7720 (G1)|
|Chromosomal Location||127075284-127093169 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 127091088 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 1018 (D1018G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043466 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039259] [ENSMUST00000080975] [ENSMUST00000164259] [ENSMUST00000217941]|
AA Change: D1018G
PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: D1018G
AA Change: D998G
PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|Meta Mutation Damage Score||0.1065|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
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||
|Other mutations in Agap2||
(F):5'- CATCGAGTGTTCTGGCATCC -3'
(R):5'- TAATGACAACGTGGGCGAGC -3'
(F):5'- AGTGTTCTGGCATCCACCGG -3'
(R):5'- ACAGCGGCCCACAGTTG -3'