Incidental Mutation 'R7720:Agap2'
| ID |
595183 |
| 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 |
067892-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R7720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
126911154-126929039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126926957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q3UHD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039259
AA Change: D1018G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043466
Gene: ENSMUSG00000025422
AA Change: D1018G
| 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: ENSMUST00000080975
|
| SMART Domains |
Protein: ENSMUSP00000079770
Gene: ENSMUSG00000040462
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
108 |
181 |
2.3e-19 |
PFAM |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
533 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164259
|
| SMART Domains |
Protein: ENSMUSP00000128914
Gene: ENSMUSG00000040462
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
108 |
181 |
8.6e-19 |
PFAM |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217941
AA Change: D998G
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1065 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
T |
C |
9: 53,433,539 (GRCm39) |
N237S |
possibly damaging |
Het |
| Card6 |
G |
T |
15: 5,127,905 (GRCm39) |
Q1164K |
unknown |
Het |
| Ccdc202 |
A |
G |
14: 96,119,548 (GRCm39) |
R102G |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,222,430 (GRCm39) |
C730Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,981,108 (GRCm39) |
L2770Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,072 (GRCm39) |
T87A |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,856,974 (GRCm39) |
I1269T |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,705,127 (GRCm39) |
E138G |
possibly damaging |
Het |
| Fam124b |
A |
G |
1: 80,177,974 (GRCm39) |
S342P |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,758,907 (GRCm39) |
S76P |
probably damaging |
Het |
| Gipr |
T |
C |
7: 18,896,884 (GRCm39) |
I129V |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,288 (GRCm39) |
V558D |
probably damaging |
Het |
| Gsdme |
C |
T |
6: 50,206,288 (GRCm39) |
G185E |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,660,966 (GRCm39) |
C148S |
probably damaging |
Het |
| Hgd |
T |
A |
16: 37,413,797 (GRCm39) |
D86E |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,522,460 (GRCm39) |
H3480L |
probably benign |
Het |
| Hs2st1 |
T |
C |
3: 144,159,783 (GRCm39) |
N127D |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,310,833 (GRCm39) |
N599S |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,664,971 (GRCm39) |
G1132R |
unknown |
Het |
| Jakmip2 |
A |
G |
18: 43,704,973 (GRCm39) |
S343P |
possibly damaging |
Het |
| Kif1b |
A |
G |
4: 149,266,812 (GRCm39) |
V1670A |
probably benign |
Het |
| Lman2 |
A |
T |
13: 55,500,890 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
T |
17: 75,692,119 (GRCm39) |
Y1579F |
probably damaging |
Het |
| Mon2 |
G |
A |
10: 122,868,493 (GRCm39) |
A520V |
probably benign |
Het |
| Mrpl10 |
T |
G |
11: 96,938,363 (GRCm39) |
V171G |
possibly damaging |
Het |
| Mrps27 |
A |
T |
13: 99,537,838 (GRCm39) |
T153S |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nlrp10 |
A |
G |
7: 108,523,695 (GRCm39) |
V595A |
probably benign |
Het |
| Nol4 |
A |
T |
18: 23,173,080 (GRCm39) |
M7K |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,067,980 (GRCm39) |
S188N |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,618 (GRCm39) |
G16V |
probably benign |
Het |
| Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,993 (GRCm39) |
Y279C |
probably damaging |
Het |
| Pfpl |
C |
T |
19: 12,406,538 (GRCm39) |
A263V |
probably benign |
Het |
| Phf3 |
T |
G |
1: 30,868,938 (GRCm39) |
K703N |
probably damaging |
Het |
| Pik3ca |
C |
G |
3: 32,490,367 (GRCm39) |
P5A |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,221,445 (GRCm39) |
V987A |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,596,250 (GRCm39) |
I305N |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,252,161 (GRCm39) |
K1069E |
possibly damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,403 (GRCm39) |
V182A |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,211,703 (GRCm38) |
N995S |
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,693,903 (GRCm39) |
G1375V |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,560,864 (GRCm39) |
Y325C |
possibly damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,178 (GRCm39) |
D244G |
probably benign |
Het |
| Shcbp1 |
A |
C |
8: 4,798,720 (GRCm39) |
S400A |
probably damaging |
Het |
| Shfl |
C |
T |
9: 20,780,155 (GRCm39) |
|
probably benign |
Het |
| Sirpb1c |
T |
A |
3: 15,886,236 (GRCm39) |
Y380F |
probably benign |
Het |
| Tbl2 |
G |
C |
5: 135,188,329 (GRCm39) |
L374F |
probably damaging |
Het |
| Tpr |
C |
A |
1: 150,305,283 (GRCm39) |
A1524E |
possibly damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,460 (GRCm39) |
E276V |
probably damaging |
Het |
| Vps16 |
C |
T |
2: 130,283,623 (GRCm39) |
Q606* |
probably null |
Het |
| Vstm5 |
A |
T |
9: 15,150,652 (GRCm39) |
Q29L |
probably benign |
Het |
| Wipi1 |
G |
T |
11: 109,473,249 (GRCm39) |
S250Y |
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 |
|
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 |
|
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'- CATCGAGTGTTCTGGCATCC -3'
(R):5'- TAATGACAACGTGGGCGAGC -3'
Sequencing Primer
(F):5'- AGTGTTCTGGCATCCACCGG -3'
(R):5'- ACAGCGGCCCACAGTTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation