Incidental Mutation 'R4959:Pik3c2g'
| ID |
382157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3c2g
|
| Ensembl Gene |
ENSMUSG00000030228 |
| Gene Name |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma |
| Synonyms |
|
| MMRRC Submission |
042556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R4959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
139587221-139969284 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139843931 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 385
(Y385H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087657]
[ENSMUST00000111868]
[ENSMUST00000218528]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087657
AA Change: Y17H
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000084939
Gene: ENSMUSG00000030228
AA Change: Y17H
| Domain | Start | End | E-Value | Type |
|---|
|
PI3Kc
|
125 |
387 |
2.11e-109 |
SMART |
|
PX
|
411 |
515 |
1.24e-21 |
SMART |
|
C2
|
550 |
647 |
1.34e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111868
AA Change: Y385H
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107499
Gene: ENSMUSG00000030228
AA Change: Y385H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1e8xa2
|
1 |
83 |
4e-16 |
SMART |
|
PI3Ka
|
103 |
288 |
7.6e-29 |
SMART |
|
PI3Kc
|
375 |
637 |
2.11e-109 |
SMART |
|
PX
|
661 |
765 |
1.24e-21 |
SMART |
|
C2
|
800 |
897 |
1.34e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187223
|
| SMART Domains |
Protein: ENSMUSP00000140589
Gene: ENSMUSG00000030228
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PI3_PI4_kinase
|
123 |
226 |
3.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189374
|
| SMART Domains |
Protein: ENSMUSP00000139763
Gene: ENSMUSG00000030228
| Domain | Start | End | E-Value | Type |
|---|
|
PI3Kc
|
125 |
387 |
2.11e-109 |
SMART |
|
PX
|
411 |
515 |
1.24e-21 |
SMART |
|
C2
|
550 |
647 |
1.34e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206646
AA Change: Y17H
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218528
AA Change: Y267H
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.2036 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.6%
- 20x: 89.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allelel exhibit reduced liver glucogen accumulation, hyperlipidemia, adiposity and insulin resistance with age or after consumption of a high-fat diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,164,546 (GRCm38) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,164,547 (GRCm38) |
E685V |
possibly damaging |
Het |
| 6820408C15Rik |
T |
A |
2: 152,440,888 (GRCm38) |
I221K |
possibly damaging |
Het |
| Aadacl3 |
A |
T |
4: 144,457,086 (GRCm38) |
C136S |
probably benign |
Het |
| Abhd16a |
T |
A |
17: 35,102,342 (GRCm38) |
S498T |
probably benign |
Het |
| Acrv1 |
G |
A |
9: 36,694,700 (GRCm38) |
|
probably null |
Het |
| Adamts18 |
G |
A |
8: 113,736,725 (GRCm38) |
R830* |
probably null |
Het |
| Art3 |
A |
G |
5: 92,403,619 (GRCm38) |
Y279C |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,515,301 (GRCm38) |
D552E |
probably benign |
Het |
| Ccdc154 |
T |
C |
17: 25,170,914 (GRCm38) |
L508P |
probably damaging |
Het |
| Ccser2 |
A |
T |
14: 36,940,796 (GRCm38) |
S144T |
probably benign |
Het |
| Cgn |
C |
T |
3: 94,778,254 (GRCm38) |
A320T |
probably benign |
Het |
| Cklf |
A |
G |
8: 104,261,552 (GRCm38) |
K106E |
probably benign |
Het |
| Clec12a |
C |
A |
6: 129,353,665 (GRCm38) |
T70K |
probably benign |
Het |
| CN725425 |
G |
A |
15: 91,245,701 (GRCm38) |
A256T |
possibly damaging |
Het |
| Crb2 |
G |
T |
2: 37,790,470 (GRCm38) |
R470L |
probably damaging |
Het |
| Csn1s1 |
T |
G |
5: 87,673,261 (GRCm38) |
S33A |
probably benign |
Het |
| D3Ertd254e |
C |
T |
3: 36,164,136 (GRCm38) |
R102C |
possibly damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,148,367 (GRCm38) |
V1571M |
possibly damaging |
Het |
| Deup1 |
G |
A |
9: 15,612,014 (GRCm38) |
Q58* |
probably null |
Het |
| Dph2 |
T |
A |
4: 117,891,330 (GRCm38) |
D82V |
probably damaging |
Het |
| Dsp |
C |
T |
13: 38,191,710 (GRCm38) |
A1157V |
probably benign |
Het |
| Evi5l |
G |
T |
8: 4,205,406 (GRCm38) |
V477L |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,982,262 (GRCm38) |
H131Q |
probably damaging |
Het |
| Fam193b |
A |
G |
13: 55,543,284 (GRCm38) |
I259T |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,431,210 (GRCm38) |
T323A |
probably benign |
Het |
| Fat4 |
T |
G |
3: 38,983,046 (GRCm38) |
S3616A |
probably benign |
Het |
| Fbxo38 |
A |
T |
18: 62,522,507 (GRCm38) |
N369K |
probably benign |
Het |
| Fitm1 |
T |
A |
14: 55,576,374 (GRCm38) |
|
probably null |
Het |
| Fkbp5 |
T |
C |
17: 28,428,369 (GRCm38) |
E164G |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,623,949 (GRCm38) |
Y310C |
possibly damaging |
Het |
| Fryl |
A |
T |
5: 73,035,058 (GRCm38) |
M2678K |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,984,825 (GRCm38) |
I3634T |
probably benign |
Het |
| Gm3233 |
T |
C |
10: 77,759,565 (GRCm38) |
|
probably benign |
Het |
| Gzmd |
T |
G |
14: 56,132,498 (GRCm38) |
T9P |
unknown |
Het |
| Htr2b |
A |
T |
1: 86,100,091 (GRCm38) |
I231N |
probably damaging |
Het |
| Il2ra |
A |
G |
2: 11,676,853 (GRCm38) |
T90A |
possibly damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,781,958 (GRCm38) |
F60S |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,148,370 (GRCm38) |
C299Y |
possibly damaging |
Het |
| Lsm5 |
A |
T |
6: 56,703,324 (GRCm38) |
D44E |
probably damaging |
Het |
| Mapk1 |
T |
A |
16: 17,018,306 (GRCm38) |
M106K |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 102,063,291 (GRCm38) |
V193A |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,754,319 (GRCm38) |
S1398P |
possibly damaging |
Het |
| Ndufs2 |
A |
G |
1: 171,238,009 (GRCm38) |
Y282H |
probably damaging |
Het |
| Nes |
T |
A |
3: 87,975,676 (GRCm38) |
L414Q |
probably damaging |
Het |
| Neurl2 |
T |
A |
2: 164,833,202 (GRCm38) |
|
probably null |
Het |
| Ngef |
A |
G |
1: 87,503,348 (GRCm38) |
F159S |
possibly damaging |
Het |
| Nlrx1 |
T |
C |
9: 44,254,151 (GRCm38) |
H816R |
possibly damaging |
Het |
| Olfr1178 |
T |
A |
2: 88,391,330 (GRCm38) |
L28I |
probably benign |
Het |
| Olfr1204 |
T |
C |
2: 88,852,172 (GRCm38) |
V74A |
possibly damaging |
Het |
| Olfr1293-ps |
T |
A |
2: 111,527,624 (GRCm38) |
F103L |
probably damaging |
Het |
| Olfr1417 |
A |
G |
19: 11,828,936 (GRCm38) |
L30P |
probably benign |
Het |
| Olfr381 |
A |
T |
11: 73,486,067 (GRCm38) |
Y252* |
probably null |
Het |
| Olfr453 |
T |
C |
6: 42,744,687 (GRCm38) |
S217P |
probably damaging |
Het |
| Olfr855 |
A |
G |
9: 19,585,208 (GRCm38) |
T224A |
probably benign |
Het |
| Pcgf2 |
A |
T |
11: 97,691,689 (GRCm38) |
Y7N |
possibly damaging |
Het |
| Pdlim5 |
G |
A |
3: 142,311,979 (GRCm38) |
|
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,375,648 (GRCm38) |
V1467A |
probably damaging |
Het |
| Pigp |
C |
A |
16: 94,359,147 (GRCm38) |
G134V |
probably benign |
Het |
| Pnliprp2 |
G |
A |
19: 58,766,318 (GRCm38) |
E265K |
probably benign |
Het |
| Prl3c1 |
G |
T |
13: 27,202,488 (GRCm38) |
|
probably null |
Het |
| Ptpn4 |
A |
T |
1: 119,765,096 (GRCm38) |
Y110* |
probably null |
Het |
| Ptprq |
C |
T |
10: 107,686,555 (GRCm38) |
V546I |
probably damaging |
Het |
| Rd3l |
C |
T |
12: 111,980,144 (GRCm38) |
|
probably null |
Het |
| Rpl37 |
G |
A |
15: 5,117,646 (GRCm38) |
R56Q |
possibly damaging |
Het |
| Rttn |
A |
T |
18: 89,042,168 (GRCm38) |
H998L |
probably damaging |
Het |
| Rufy1 |
A |
T |
11: 50,401,488 (GRCm38) |
F491L |
probably benign |
Het |
| Simc1 |
T |
G |
13: 54,525,318 (GRCm38) |
V493G |
possibly damaging |
Het |
| Slc22a14 |
CTTTCCTGAA |
C |
9: 119,174,035 (GRCm38) |
|
probably benign |
Het |
| Slc25a46 |
A |
T |
18: 31,602,754 (GRCm38) |
I144N |
possibly damaging |
Het |
| Smtn |
A |
T |
11: 3,527,825 (GRCm38) |
M1K |
probably null |
Het |
| Snd1 |
C |
A |
6: 28,884,251 (GRCm38) |
Y766* |
probably null |
Het |
| Spata31d1d |
C |
T |
13: 59,727,288 (GRCm38) |
G811D |
probably damaging |
Het |
| Spta1 |
A |
C |
1: 174,246,608 (GRCm38) |
D2371A |
probably damaging |
Het |
| Stard6 |
A |
C |
18: 70,498,560 (GRCm38) |
D74A |
possibly damaging |
Het |
| Stim2 |
G |
T |
5: 54,105,370 (GRCm38) |
R318L |
probably benign |
Het |
| Sufu |
C |
T |
19: 46,475,552 (GRCm38) |
T401I |
possibly damaging |
Het |
| Suz12 |
G |
A |
11: 80,029,231 (GRCm38) |
G539D |
probably damaging |
Het |
| Sytl2 |
C |
G |
7: 90,376,037 (GRCm38) |
S411C |
probably damaging |
Het |
| Taf6 |
G |
A |
5: 138,183,203 (GRCm38) |
Q156* |
probably null |
Het |
| Tead4 |
T |
C |
6: 128,270,987 (GRCm38) |
D29G |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,444,183 (GRCm38) |
Y455C |
probably damaging |
Het |
| Tlr6 |
G |
C |
5: 64,953,659 (GRCm38) |
T635S |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,224,677 (GRCm38) |
D389G |
probably benign |
Het |
| Tmem54 |
A |
T |
4: 129,108,280 (GRCm38) |
H40L |
probably damaging |
Het |
| Trappc9 |
G |
T |
15: 72,937,056 (GRCm38) |
N540K |
probably damaging |
Het |
| Trbv29 |
C |
T |
6: 41,271,854 (GRCm38) |
S106F |
probably damaging |
Het |
| Trrap |
A |
T |
5: 144,856,960 (GRCm38) |
H3384L |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,480,914 (GRCm38) |
M684K |
probably damaging |
Het |
| Vat1 |
G |
A |
11: 101,460,600 (GRCm38) |
T305M |
probably damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,421,433 (GRCm38) |
S544P |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,459,786 (GRCm38) |
S267P |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,049,945 (GRCm38) |
V1242E |
probably damaging |
Het |
| Zfp322a |
T |
C |
13: 23,356,882 (GRCm38) |
Y230C |
probably damaging |
Het |
| Zfp352 |
T |
A |
4: 90,224,139 (GRCm38) |
V172E |
probably benign |
Het |
| Zfp936 |
A |
T |
7: 43,189,610 (GRCm38) |
H167L |
probably damaging |
Het |
| Zkscan14 |
A |
G |
5: 145,195,492 (GRCm38) |
Y410H |
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,503,712 (GRCm38) |
M21T |
probably damaging |
Het |
| Zswim4 |
G |
T |
8: 84,212,223 (GRCm38) |
A1010D |
probably benign |
Het |
|
| Other mutations in Pik3c2g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Pik3c2g
|
APN |
6 |
139,896,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01355:Pik3c2g
|
APN |
6 |
139,852,857 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01579:Pik3c2g
|
APN |
6 |
139,754,741 (GRCm38) |
nonsense |
probably null |
|
|
IGL01580:Pik3c2g
|
APN |
6 |
139,622,516 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01587:Pik3c2g
|
APN |
6 |
139,754,741 (GRCm38) |
nonsense |
probably null |
|
|
IGL01813:Pik3c2g
|
APN |
6 |
139,622,409 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL02218:Pik3c2g
|
APN |
6 |
139,860,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02479:Pik3c2g
|
APN |
6 |
139,918,004 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL02480:Pik3c2g
|
APN |
6 |
139,852,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02721:Pik3c2g
|
APN |
6 |
139,736,973 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL02967:Pik3c2g
|
APN |
6 |
139,967,828 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03221:Pik3c2g
|
APN |
6 |
139,772,407 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
FR4304:Pik3c2g
|
UTSW |
6 |
139,635,656 (GRCm38) |
frame shift |
probably null |
|
|
FR4340:Pik3c2g
|
UTSW |
6 |
139,635,656 (GRCm38) |
frame shift |
probably null |
|
|
FR4976:Pik3c2g
|
UTSW |
6 |
139,635,654 (GRCm38) |
frame shift |
probably null |
|
|
IGL02837:Pik3c2g
|
UTSW |
6 |
139,626,564 (GRCm38) |
nonsense |
probably null |
|
|
PIT4531001:Pik3c2g
|
UTSW |
6 |
139,859,370 (GRCm38) |
missense |
|
|
|
R0002:Pik3c2g
|
UTSW |
6 |
139,768,745 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0081:Pik3c2g
|
UTSW |
6 |
139,957,793 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0098:Pik3c2g
|
UTSW |
6 |
139,662,443 (GRCm38) |
missense |
unknown |
|
|
R0719:Pik3c2g
|
UTSW |
6 |
139,629,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0740:Pik3c2g
|
UTSW |
6 |
139,633,793 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0837:Pik3c2g
|
UTSW |
6 |
139,957,699 (GRCm38) |
splice site |
probably benign |
|
|
R0840:Pik3c2g
|
UTSW |
6 |
139,896,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1306:Pik3c2g
|
UTSW |
6 |
139,772,428 (GRCm38) |
missense |
probably benign |
|
|
R1501:Pik3c2g
|
UTSW |
6 |
139,844,070 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1591:Pik3c2g
|
UTSW |
6 |
139,748,178 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1666:Pik3c2g
|
UTSW |
6 |
139,635,636 (GRCm38) |
intron |
probably benign |
|
|
R1907:Pik3c2g
|
UTSW |
6 |
139,844,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1970:Pik3c2g
|
UTSW |
6 |
139,900,386 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1982:Pik3c2g
|
UTSW |
6 |
139,622,548 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2171:Pik3c2g
|
UTSW |
6 |
139,855,286 (GRCm38) |
nonsense |
probably null |
|
|
R2188:Pik3c2g
|
UTSW |
6 |
139,852,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3777:Pik3c2g
|
UTSW |
6 |
139,622,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3778:Pik3c2g
|
UTSW |
6 |
139,622,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3965:Pik3c2g
|
UTSW |
6 |
139,855,292 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4076:Pik3c2g
|
UTSW |
6 |
139,852,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4078:Pik3c2g
|
UTSW |
6 |
139,635,610 (GRCm38) |
intron |
probably benign |
|
|
R4108:Pik3c2g
|
UTSW |
6 |
139,730,370 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4461:Pik3c2g
|
UTSW |
6 |
139,841,681 (GRCm38) |
intron |
probably benign |
|
|
R4474:Pik3c2g
|
UTSW |
6 |
139,633,751 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4509:Pik3c2g
|
UTSW |
6 |
139,720,006 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4646:Pik3c2g
|
UTSW |
6 |
139,720,018 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4732:Pik3c2g
|
UTSW |
6 |
139,935,985 (GRCm38) |
missense |
probably benign |
0.28 |
|
R4733:Pik3c2g
|
UTSW |
6 |
139,935,985 (GRCm38) |
missense |
probably benign |
0.28 |
|
R4854:Pik3c2g
|
UTSW |
6 |
139,768,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4928:Pik3c2g
|
UTSW |
6 |
139,967,802 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4973:Pik3c2g
|
UTSW |
6 |
139,843,931 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5032:Pik3c2g
|
UTSW |
6 |
139,896,202 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5071:Pik3c2g
|
UTSW |
6 |
139,720,147 (GRCm38) |
missense |
probably null |
0.00 |
|
R5072:Pik3c2g
|
UTSW |
6 |
139,720,147 (GRCm38) |
missense |
probably null |
0.00 |
|
R5073:Pik3c2g
|
UTSW |
6 |
139,720,147 (GRCm38) |
missense |
probably null |
0.00 |
|
R5074:Pik3c2g
|
UTSW |
6 |
139,720,147 (GRCm38) |
missense |
probably null |
0.00 |
|
R5107:Pik3c2g
|
UTSW |
6 |
139,635,625 (GRCm38) |
intron |
probably benign |
|
|
R5186:Pik3c2g
|
UTSW |
6 |
139,622,018 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5253:Pik3c2g
|
UTSW |
6 |
139,896,257 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5359:Pik3c2g
|
UTSW |
6 |
139,622,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5394:Pik3c2g
|
UTSW |
6 |
139,720,082 (GRCm38) |
missense |
probably benign |
|
|
R5417:Pik3c2g
|
UTSW |
6 |
139,736,943 (GRCm38) |
missense |
probably benign |
|
|
R5435:Pik3c2g
|
UTSW |
6 |
139,715,855 (GRCm38) |
splice site |
probably null |
|
|
R5580:Pik3c2g
|
UTSW |
6 |
139,626,533 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5664:Pik3c2g
|
UTSW |
6 |
139,737,007 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5908:Pik3c2g
|
UTSW |
6 |
139,768,710 (GRCm38) |
missense |
|
|
|
R5914:Pik3c2g
|
UTSW |
6 |
139,622,479 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6046:Pik3c2g
|
UTSW |
6 |
139,896,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6046:Pik3c2g
|
UTSW |
6 |
139,622,139 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6298:Pik3c2g
|
UTSW |
6 |
139,626,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6382:Pik3c2g
|
UTSW |
6 |
139,719,998 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6480:Pik3c2g
|
UTSW |
6 |
139,730,469 (GRCm38) |
missense |
probably benign |
0.27 |
|
R6917:Pik3c2g
|
UTSW |
6 |
139,896,173 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6929:Pik3c2g
|
UTSW |
6 |
139,957,776 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7022:Pik3c2g
|
UTSW |
6 |
139,622,063 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7144:Pik3c2g
|
UTSW |
6 |
139,629,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7213:Pik3c2g
|
UTSW |
6 |
139,860,264 (GRCm38) |
missense |
|
|
|
R7215:Pik3c2g
|
UTSW |
6 |
139,754,863 (GRCm38) |
missense |
|
|
|
R7332:Pik3c2g
|
UTSW |
6 |
139,896,255 (GRCm38) |
missense |
|
|
|
R7357:Pik3c2g
|
UTSW |
6 |
139,633,793 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7359:Pik3c2g
|
UTSW |
6 |
139,967,894 (GRCm38) |
missense |
unknown |
|
|
R7385:Pik3c2g
|
UTSW |
6 |
139,855,353 (GRCm38) |
missense |
|
|
|
R7455:Pik3c2g
|
UTSW |
6 |
139,967,917 (GRCm38) |
missense |
unknown |
|
|
R7651:Pik3c2g
|
UTSW |
6 |
139,622,072 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7888:Pik3c2g
|
UTSW |
6 |
139,896,744 (GRCm38) |
missense |
|
|
|
R7923:Pik3c2g
|
UTSW |
6 |
139,633,793 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7964:Pik3c2g
|
UTSW |
6 |
139,882,060 (GRCm38) |
missense |
|
|
|
R8005:Pik3c2g
|
UTSW |
6 |
139,622,069 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8371:Pik3c2g
|
UTSW |
6 |
139,936,056 (GRCm38) |
missense |
unknown |
|
|
R8724:Pik3c2g
|
UTSW |
6 |
139,967,893 (GRCm38) |
missense |
unknown |
|
|
R8733:Pik3c2g
|
UTSW |
6 |
139,768,700 (GRCm38) |
nonsense |
probably null |
|
|
R8809:Pik3c2g
|
UTSW |
6 |
139,768,710 (GRCm38) |
missense |
|
|
|
R8888:Pik3c2g
|
UTSW |
6 |
139,730,366 (GRCm38) |
nonsense |
probably null |
|
|
R8931:Pik3c2g
|
UTSW |
6 |
139,875,367 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9188:Pik3c2g
|
UTSW |
6 |
139,622,403 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9336:Pik3c2g
|
UTSW |
6 |
139,875,435 (GRCm38) |
missense |
|
|
|
R9383:Pik3c2g
|
UTSW |
6 |
139,882,016 (GRCm38) |
nonsense |
probably null |
|
|
R9524:Pik3c2g
|
UTSW |
6 |
139,629,770 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9531:Pik3c2g
|
UTSW |
6 |
139,896,200 (GRCm38) |
missense |
|
|
|
R9630:Pik3c2g
|
UTSW |
6 |
139,622,239 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9697:Pik3c2g
|
UTSW |
6 |
139,967,791 (GRCm38) |
missense |
unknown |
|
|
R9708:Pik3c2g
|
UTSW |
6 |
139,629,867 (GRCm38) |
missense |
probably benign |
|
|
R9717:Pik3c2g
|
UTSW |
6 |
139,896,184 (GRCm38) |
missense |
|
|
|
RF015:Pik3c2g
|
UTSW |
6 |
139,754,771 (GRCm38) |
missense |
|
|
|
RF032:Pik3c2g
|
UTSW |
6 |
139,635,658 (GRCm38) |
frame shift |
probably null |
|
|
X0024:Pik3c2g
|
UTSW |
6 |
139,860,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCGTTAGCTATCAGGTGAAC -3'
(R):5'- GACACCTCACATTATGCTAACG -3'
Sequencing Primer
(F):5'- CAGGTGAACTCTGATTATTGCC -3'
(R):5'- GCTAACGATTGATTTCTTTCACCAAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation