Incidental Mutation 'R6347:Pik3ca'
| ID |
520050 |
| 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 |
044501-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6347 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
32451203-32520256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32516970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1066
(A1066V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029201]
[ENSMUST00000108242]
[ENSMUST00000108243]
|
| AlphaFold |
P42337 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029201
AA Change: A1066V
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
AA Change: A1066V
| 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
AA Change: A944V
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103877
Gene: ENSMUSG00000027665
AA Change: A944V
| 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
AA Change: A1066V
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103878
Gene: ENSMUSG00000027665
AA Change: A1066V
| 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 |
noncoding transcript
Transcript: ENSMUST00000195230
|
| Meta Mutation Damage Score |
0.1179 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atat1 |
A |
G |
17: 36,220,921 (GRCm39) |
F3L |
probably damaging |
Het |
| Atf7 |
T |
A |
15: 102,454,914 (GRCm39) |
M285L |
possibly damaging |
Het |
| Bcl7b |
T |
C |
5: 135,209,387 (GRCm39) |
S95P |
possibly damaging |
Het |
| Cald1 |
A |
C |
6: 34,741,981 (GRCm39) |
K453Q |
probably damaging |
Het |
| Cimip1 |
G |
T |
2: 173,369,708 (GRCm39) |
R74L |
possibly damaging |
Het |
| Cog4 |
A |
T |
8: 111,607,275 (GRCm39) |
I580F |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,290,332 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,218,765 (GRCm39) |
|
probably null |
Het |
| Eif2b3 |
T |
C |
4: 116,901,763 (GRCm39) |
V142A |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,909,668 (GRCm39) |
N2111K |
probably damaging |
Het |
| Fbxo31 |
C |
A |
8: 122,305,198 (GRCm39) |
E99D |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,863,487 (GRCm39) |
E34G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,794,194 (GRCm39) |
V190A |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,844,151 (GRCm39) |
|
probably null |
Het |
| Igkv3-2 |
A |
C |
6: 70,676,017 (GRCm39) |
M109L |
probably benign |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,005,068 (GRCm39) |
T1120I |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,515,833 (GRCm39) |
I2670T |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,032,501 (GRCm39) |
M360V |
probably benign |
Het |
| Ldlrad4 |
A |
G |
18: 68,368,851 (GRCm39) |
S103G |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,596,709 (GRCm39) |
K88E |
probably damaging |
Het |
| Ltbp2 |
C |
A |
12: 84,900,686 (GRCm39) |
R192L |
probably damaging |
Het |
| Mast2 |
C |
A |
4: 116,174,929 (GRCm39) |
G475V |
probably damaging |
Het |
| Meis1 |
A |
C |
11: 18,855,631 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,128,675 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
T |
18: 74,903,456 (GRCm39) |
A1824V |
probably benign |
Het |
| Nectin3 |
C |
T |
16: 46,278,487 (GRCm39) |
V303M |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,157 (GRCm39) |
S78P |
possibly damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,495 (GRCm39) |
N811S |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,482,808 (GRCm39) |
T153A |
possibly damaging |
Het |
| Sacs |
G |
A |
14: 61,448,609 (GRCm39) |
V3552I |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,862,854 (GRCm39) |
N109K |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,403,519 (GRCm39) |
M2621K |
probably benign |
Het |
| Stfa2l1 |
T |
C |
16: 35,977,271 (GRCm39) |
I22T |
probably damaging |
Het |
| Tbpl2 |
G |
A |
2: 23,984,715 (GRCm39) |
P144L |
probably benign |
Het |
| Tmem219 |
T |
C |
7: 126,495,998 (GRCm39) |
N119S |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,084 (GRCm39) |
T4149A |
probably benign |
Het |
| Wdr46 |
C |
A |
17: 34,160,826 (GRCm39) |
P197T |
probably damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably 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 |
|
|
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 |
|
|
R9255:Pik3ca
|
UTSW |
3 |
32,496,981 (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'- GCATGCCAATCTCTTCATCAAC -3'
(R):5'- ATCAAACCCTGCTTGCGTGTAC -3'
Sequencing Primer
(F):5'- ATGCTTGGCTCTGGAATGCC -3'
(R):5'- CAGTGTTTCAATTATAGAGCACGTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation