Incidental Mutation 'R9255:Pik3ca'
| ID |
701781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3ca
|
| Ensembl Gene |
ENSMUSG00000027665 |
| Gene Name |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| Synonyms |
6330412C24Rik, caPI3K, p110alpha |
| MMRRC Submission |
068961-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32451203-32520256 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 32496981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029201]
[ENSMUST00000029201]
[ENSMUST00000108242]
[ENSMUST00000108243]
|
| AlphaFold |
P42337 |
| PDB Structure |
Crystal structure of p110alpha in complex with iSH2 of p85alpha and the inhibitor PIK-108 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000029201
|
| SMART Domains |
Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
3.03e-46 |
SMART |
|
PI3K_rbd
|
173 |
292 |
5e-47 |
SMART |
|
PI3K_C2
|
322 |
425 |
2.39e-35 |
SMART |
|
C2
|
333 |
441 |
3.95e-1 |
SMART |
|
PI3Ka
|
518 |
704 |
8.35e-99 |
SMART |
|
Blast:PI3Kc
|
733 |
766 |
1e-11 |
BLAST |
|
PI3Kc
|
798 |
1065 |
8.82e-130 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000029201
|
| SMART Domains |
Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
3.03e-46 |
SMART |
|
PI3K_rbd
|
173 |
292 |
5e-47 |
SMART |
|
PI3K_C2
|
322 |
425 |
2.39e-35 |
SMART |
|
C2
|
333 |
441 |
3.95e-1 |
SMART |
|
PI3Ka
|
518 |
704 |
8.35e-99 |
SMART |
|
Blast:PI3Kc
|
733 |
766 |
1e-11 |
BLAST |
|
PI3Kc
|
798 |
1065 |
8.82e-130 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108242
|
| SMART Domains |
Protein: ENSMUSP00000103877
Gene: ENSMUSG00000027665
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_rbd
|
51 |
170 |
5e-47 |
SMART |
|
PI3K_C2
|
200 |
303 |
2.39e-35 |
SMART |
|
C2
|
211 |
319 |
3.95e-1 |
SMART |
|
PI3Ka
|
396 |
582 |
8.35e-99 |
SMART |
|
Blast:PI3Kc
|
611 |
644 |
1e-11 |
BLAST |
|
PI3Kc
|
676 |
943 |
8.82e-130 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108243
|
| SMART Domains |
Protein: ENSMUSP00000103878
Gene: ENSMUSG00000027665
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
3.03e-46 |
SMART |
|
PI3K_rbd
|
173 |
292 |
5e-47 |
SMART |
|
PI3K_C2
|
322 |
425 |
2.39e-35 |
SMART |
|
C2
|
333 |
441 |
3.95e-1 |
SMART |
|
PI3Ka
|
518 |
704 |
8.35e-99 |
SMART |
|
Blast:PI3Kc
|
733 |
766 |
1e-11 |
BLAST |
|
PI3Kc
|
798 |
1065 |
8.82e-130 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null or knock-in mutations of this gene lead to embryonic death associated with growth retardation, vascular defects and hemorrhage. Surviving mice homozygous for a knock-in allele show impaired lymphangiogenesis, ascites, reduced weight, and resistance to Ras-driven skin tumorigenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,626,795 (GRCm39) |
Y549C |
probably damaging |
Het |
| Abca13 |
A |
C |
11: 9,278,213 (GRCm39) |
N3131T |
probably damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,145 (GRCm39) |
V775A |
probably benign |
Het |
| Actn3 |
T |
A |
19: 4,921,820 (GRCm39) |
I149F |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 69,036,199 (GRCm39) |
M154K |
possibly damaging |
Het |
| Agbl1 |
A |
T |
7: 76,416,150 (GRCm39) |
M976L |
unknown |
Het |
| Agbl3 |
T |
A |
6: 34,789,840 (GRCm39) |
M531K |
probably damaging |
Het |
| Armc8 |
A |
C |
9: 99,379,441 (GRCm39) |
M495R |
possibly damaging |
Het |
| Astn2 |
T |
A |
4: 65,563,085 (GRCm39) |
K899* |
probably null |
Het |
| Atp10b |
T |
A |
11: 43,107,148 (GRCm39) |
H727Q |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,519,401 (GRCm39) |
I564V |
possibly damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
T |
A |
6: 29,409,237 (GRCm39) |
H183Q |
probably benign |
Het |
| Celf3 |
T |
C |
3: 94,392,594 (GRCm39) |
F98L |
probably benign |
Het |
| Chrd |
G |
A |
16: 20,558,801 (GRCm39) |
C845Y |
probably damaging |
Het |
| Clec1a |
T |
G |
6: 129,409,208 (GRCm39) |
K139N |
probably benign |
Het |
| Cntln |
T |
G |
4: 85,019,103 (GRCm39) |
N130K |
possibly damaging |
Het |
| Cog1 |
A |
T |
11: 113,547,019 (GRCm39) |
T538S |
probably benign |
Het |
| Cog8 |
A |
G |
8: 107,779,383 (GRCm39) |
I298T |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,164,102 (GRCm39) |
W72R |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,376,864 (GRCm39) |
R453G |
probably damaging |
Het |
| Exph5 |
T |
A |
9: 53,284,609 (GRCm39) |
N563K |
possibly damaging |
Het |
| Foxn1 |
C |
A |
11: 78,252,399 (GRCm39) |
E330* |
probably null |
Het |
| Fzd7 |
G |
T |
1: 59,522,495 (GRCm39) |
R126L |
possibly damaging |
Het |
| Gmnn |
A |
G |
13: 24,937,351 (GRCm39) |
Y147H |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,980,186 (GRCm39) |
N83S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,889,173 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,261,972 (GRCm39) |
D2691G |
probably benign |
Het |
| Ifi203 |
A |
T |
1: 173,756,787 (GRCm39) |
I332N |
unknown |
Het |
| Inpp1 |
A |
G |
1: 52,829,306 (GRCm39) |
S238P |
probably benign |
Het |
| Jmy |
A |
G |
13: 93,589,894 (GRCm39) |
|
probably null |
Het |
| Kcnab3 |
C |
T |
11: 69,222,337 (GRCm39) |
Q327* |
probably null |
Het |
| Kctd1 |
A |
G |
18: 15,194,853 (GRCm39) |
V590A |
probably benign |
Het |
| Lrrc8e |
A |
T |
8: 4,284,504 (GRCm39) |
H243L |
probably damaging |
Het |
| Lsr |
A |
G |
7: 30,657,670 (GRCm39) |
L498S |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,843,556 (GRCm39) |
D268G |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,598,287 (GRCm39) |
V203A |
possibly damaging |
Het |
| Micu1 |
T |
A |
10: 59,604,051 (GRCm39) |
I212N |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Or11i1 |
A |
G |
3: 106,729,737 (GRCm39) |
I46T |
probably benign |
Het |
| Or12j4 |
T |
C |
7: 140,046,423 (GRCm39) |
F103S |
probably damaging |
Het |
| Or8g30 |
T |
C |
9: 39,230,487 (GRCm39) |
Y141C |
probably benign |
Het |
| Pabpc6 |
T |
C |
17: 9,886,769 (GRCm39) |
E594G |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,176,989 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,325,938 (GRCm39) |
I113T |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
T |
C |
3: 94,906,219 (GRCm39) |
S589P |
probably damaging |
Het |
| Plekhg4 |
A |
T |
8: 106,103,271 (GRCm39) |
M315L |
probably benign |
Het |
| Proz |
G |
A |
8: 13,123,472 (GRCm39) |
V248M |
possibly damaging |
Het |
| Prss1 |
T |
C |
6: 41,438,183 (GRCm39) |
Y37H |
probably damaging |
Het |
| R3hdml |
T |
A |
2: 163,337,612 (GRCm39) |
W89R |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 9,057,293 (GRCm39) |
T319A |
probably benign |
Het |
| Scn4a |
C |
T |
11: 106,215,054 (GRCm39) |
A1246T |
probably damaging |
Het |
| Sdr42e1 |
T |
A |
8: 118,389,999 (GRCm39) |
Y214F |
probably benign |
Het |
| Slc10a2 |
C |
T |
8: 5,148,565 (GRCm39) |
V127I |
probably benign |
Het |
| Slc16a1 |
T |
A |
3: 104,560,148 (GRCm39) |
M151K |
possibly damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,818,525 (GRCm39) |
M171K |
possibly damaging |
Het |
| Styk1 |
A |
G |
6: 131,286,946 (GRCm39) |
V183A |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tspan18 |
T |
G |
2: 93,040,200 (GRCm39) |
D185A |
probably benign |
Het |
| Tti2 |
T |
A |
8: 31,645,570 (GRCm39) |
F320Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,621 (GRCm39) |
I17798M |
probably damaging |
Het |
| Ube2j1 |
C |
A |
4: 33,036,759 (GRCm39) |
H28N |
probably benign |
Het |
| Vmn1r195 |
A |
C |
13: 22,463,342 (GRCm39) |
I271L |
possibly damaging |
Het |
| Vmn2r81 |
A |
C |
10: 79,103,166 (GRCm39) |
T120P |
possibly damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,673,965 (GRCm39) |
Y348F |
possibly damaging |
Het |
| Wtip |
A |
G |
7: 33,824,908 (GRCm39) |
|
probably null |
Het |
| Zc3h12d |
C |
T |
10: 7,729,022 (GRCm39) |
H129Y |
probably damaging |
Het |
| Zfp600 |
T |
G |
4: 146,131,673 (GRCm39) |
S114A |
possibly damaging |
Het |
|
| Other mutations in Pik3ca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Pik3ca
|
APN |
3 |
32,516,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01894:Pik3ca
|
APN |
3 |
32,504,175 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03118:Pik3ca
|
APN |
3 |
32,514,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Pik3ca
|
APN |
3 |
32,494,035 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03401:Pik3ca
|
APN |
3 |
32,491,963 (GRCm39) |
splice site |
probably null |
|
|
Interrupted
|
UTSW |
3 |
32,492,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lilfella
|
UTSW |
3 |
32,508,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Peninsular
|
UTSW |
3 |
32,516,970 (GRCm39) |
missense |
probably benign |
0.38 |
|
Severed
|
UTSW |
3 |
32,492,076 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0084:Pik3ca
|
UTSW |
3 |
32,516,937 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0116:Pik3ca
|
UTSW |
3 |
32,514,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Pik3ca
|
UTSW |
3 |
32,493,902 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0513:Pik3ca
|
UTSW |
3 |
32,515,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Pik3ca
|
UTSW |
3 |
32,504,410 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0622:Pik3ca
|
UTSW |
3 |
32,490,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Pik3ca
|
UTSW |
3 |
32,504,176 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1193:Pik3ca
|
UTSW |
3 |
32,510,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1292:Pik3ca
|
UTSW |
3 |
32,508,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Pik3ca
|
UTSW |
3 |
32,515,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Pik3ca
|
UTSW |
3 |
32,515,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Pik3ca
|
UTSW |
3 |
32,504,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1962:Pik3ca
|
UTSW |
3 |
32,498,016 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1969:Pik3ca
|
UTSW |
3 |
32,505,903 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2006:Pik3ca
|
UTSW |
3 |
32,504,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Pik3ca
|
UTSW |
3 |
32,492,076 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2366:Pik3ca
|
UTSW |
3 |
32,516,943 (GRCm39) |
nonsense |
probably null |
|
|
R2680:Pik3ca
|
UTSW |
3 |
32,498,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2680:Pik3ca
|
UTSW |
3 |
32,490,697 (GRCm39) |
nonsense |
probably null |
|
|
R3001:Pik3ca
|
UTSW |
3 |
32,516,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Pik3ca
|
UTSW |
3 |
32,516,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Pik3ca
|
UTSW |
3 |
32,494,084 (GRCm39) |
nonsense |
probably null |
|
|
R4416:Pik3ca
|
UTSW |
3 |
32,515,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4758:Pik3ca
|
UTSW |
3 |
32,492,127 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4822:Pik3ca
|
UTSW |
3 |
32,492,131 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4856:Pik3ca
|
UTSW |
3 |
32,491,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Pik3ca
|
UTSW |
3 |
32,491,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5297:Pik3ca
|
UTSW |
3 |
32,504,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Pik3ca
|
UTSW |
3 |
32,515,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5663:Pik3ca
|
UTSW |
3 |
32,516,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Pik3ca
|
UTSW |
3 |
32,515,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Pik3ca
|
UTSW |
3 |
32,494,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6347:Pik3ca
|
UTSW |
3 |
32,516,970 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6538:Pik3ca
|
UTSW |
3 |
32,493,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Pik3ca
|
UTSW |
3 |
32,490,428 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7720:Pik3ca
|
UTSW |
3 |
32,490,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7864:Pik3ca
|
UTSW |
3 |
32,497,762 (GRCm39) |
nonsense |
probably null |
|
|
R8218:Pik3ca
|
UTSW |
3 |
32,491,996 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8478:Pik3ca
|
UTSW |
3 |
32,505,997 (GRCm39) |
missense |
probably benign |
|
|
R9100:Pik3ca
|
UTSW |
3 |
32,514,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Pik3ca
|
UTSW |
3 |
32,503,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9267:Pik3ca
|
UTSW |
3 |
32,492,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Pik3ca
|
UTSW |
3 |
32,508,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9501:Pik3ca
|
UTSW |
3 |
32,504,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9555:Pik3ca
|
UTSW |
3 |
32,505,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pik3ca
|
UTSW |
3 |
32,492,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCAGTATGGAGCCATG -3'
(R):5'- TTCCCAAGGCTTTAGTCAATTAGC -3'
Sequencing Primer
(F):5'- ATGGAGCCATGTGTACACTC -3'
(R):5'- ACAAACAAACAAACAAACAAACAAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation