Incidental Mutation 'R1533:Pik3cd'
ID |
166729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3cd
|
Ensembl Gene |
ENSMUSG00000039936 |
Gene Name |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
Synonyms |
2610208K16Rik, 2410099E07Rik, p110delta |
MMRRC Submission |
039572-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R1533 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
149733625-149787023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 149739653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 584
(E584G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000127273]
[ENSMUST00000177654]
[ENSMUST00000134534]
[ENSMUST00000131224]
[ENSMUST00000146612]
|
AlphaFold |
O35904 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038859
AA Change: E581G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036434 Gene: ENSMUSG00000039936 AA Change: E581G
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
685 |
8.56e-87 |
SMART |
PI3Kc
|
776 |
1042 |
5.65e-128 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105688
AA Change: E581G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101313 Gene: ENSMUSG00000039936 AA Change: E581G
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
685 |
8.56e-87 |
SMART |
PI3Kc
|
775 |
1041 |
5.65e-128 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105689
AA Change: E580G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101314 Gene: ENSMUSG00000039936 AA Change: E580G
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
684 |
1.35e-84 |
SMART |
PI3Kc
|
774 |
1040 |
5.65e-128 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105690
AA Change: E584G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101315 Gene: ENSMUSG00000039936 AA Change: E584G
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
688 |
1.22e-82 |
SMART |
PI3Kc
|
778 |
1044 |
5.65e-128 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118704
AA Change: E583G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112863 Gene: ENSMUSG00000039936 AA Change: E583G
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
687 |
1.8e-80 |
SMART |
PI3Kc
|
777 |
1043 |
5.65e-128 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122059
AA Change: E577G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113844 Gene: ENSMUSG00000039936 AA Change: E577G
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
408 |
6.47e-23 |
SMART |
PI3Ka
|
492 |
681 |
8.56e-87 |
SMART |
PI3Kc
|
771 |
1037 |
5.65e-128 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127273
|
SMART Domains |
Protein: ENSMUSP00000119858 Gene: ENSMUSG00000039936
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
Blast:PI3K_rbd
|
126 |
171 |
1e-15 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177654
AA Change: E584G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136045 Gene: ENSMUSG00000039936 AA Change: E584G
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
PI3K_rbd
|
174 |
281 |
1.3e-13 |
SMART |
PI3K_C2
|
309 |
412 |
1.87e-28 |
SMART |
PI3Ka
|
496 |
688 |
1.22e-82 |
SMART |
PI3Kc
|
778 |
1044 |
5.65e-128 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185093
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134534
|
SMART Domains |
Protein: ENSMUSP00000118988 Gene: ENSMUSG00000039936
Domain | Start | End | E-Value | Type |
Pfam:PI3K_p85B
|
31 |
62 |
1.9e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131224
|
SMART Domains |
Protein: ENSMUSP00000115542 Gene: ENSMUSG00000039936
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146612
|
SMART Domains |
Protein: ENSMUSP00000121843 Gene: ENSMUSG00000039936
Domain | Start | End | E-Value | Type |
PI3K_p85B
|
31 |
108 |
2.24e-26 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010] PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired B and T cell antigen receptor signaling, reduced or ablated immune responses and decreased immunoglobulin levels. Mutants also develop inflammatory bowel disease. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
C |
3: 121,928,807 (GRCm39) |
G1340A |
probably benign |
Het |
Ambra1 |
T |
A |
2: 91,717,210 (GRCm39) |
Y836N |
probably damaging |
Het |
Arhgap26 |
A |
T |
18: 39,504,130 (GRCm39) |
H144L |
probably benign |
Het |
B3gnt5 |
A |
G |
16: 19,588,364 (GRCm39) |
I194M |
probably damaging |
Het |
Bltp1 |
G |
T |
3: 37,095,524 (GRCm39) |
G4509V |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,979,498 (GRCm39) |
C605* |
probably null |
Het |
C2cd3 |
G |
T |
7: 100,055,284 (GRCm39) |
K482N |
possibly damaging |
Het |
Cd300lg |
T |
A |
11: 101,934,047 (GRCm39) |
L98Q |
probably damaging |
Het |
Cerkl |
T |
A |
2: 79,171,701 (GRCm39) |
I386F |
possibly damaging |
Het |
Cfh |
T |
A |
1: 140,028,716 (GRCm39) |
D466V |
possibly damaging |
Het |
Crtc1 |
A |
T |
8: 70,850,949 (GRCm39) |
I221N |
probably damaging |
Het |
Ctnnbl1 |
T |
C |
2: 157,678,563 (GRCm39) |
S389P |
probably benign |
Het |
Ctsb |
A |
T |
14: 63,376,544 (GRCm39) |
D258V |
probably damaging |
Het |
Cuzd1 |
G |
T |
7: 130,913,432 (GRCm39) |
T395N |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,128,536 (GRCm39) |
T1240A |
probably benign |
Het |
Dok7 |
T |
A |
5: 35,221,671 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
T |
C |
9: 45,361,882 (GRCm39) |
V214A |
probably damaging |
Het |
Enpp6 |
A |
T |
8: 47,518,469 (GRCm39) |
Y199F |
probably benign |
Het |
Entpd5 |
C |
A |
12: 84,441,434 (GRCm39) |
K111N |
probably damaging |
Het |
Fam98a |
A |
G |
17: 75,848,276 (GRCm39) |
L146S |
probably damaging |
Het |
Fhod3 |
A |
T |
18: 25,248,921 (GRCm39) |
I1367F |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Fpr3 |
T |
A |
17: 18,190,922 (GRCm39) |
Y64* |
probably null |
Het |
Fzd6 |
A |
T |
15: 38,895,019 (GRCm39) |
H395L |
probably damaging |
Het |
Gcsh |
T |
A |
8: 117,715,921 (GRCm39) |
H54L |
probably damaging |
Het |
Gsdma |
T |
A |
11: 98,567,210 (GRCm39) |
S437T |
unknown |
Het |
Gzmc |
A |
G |
14: 56,471,376 (GRCm39) |
V55A |
probably damaging |
Het |
Hecw2 |
T |
A |
1: 53,965,704 (GRCm39) |
|
probably null |
Het |
Ifi207 |
A |
G |
1: 173,555,306 (GRCm39) |
V792A |
probably benign |
Het |
Itpr3 |
C |
A |
17: 27,314,534 (GRCm39) |
N661K |
possibly damaging |
Het |
Jmy |
A |
T |
13: 93,577,819 (GRCm39) |
I783N |
probably benign |
Het |
Kcmf1 |
T |
C |
6: 72,820,003 (GRCm39) |
E281G |
possibly damaging |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lgr6 |
T |
A |
1: 135,032,670 (GRCm39) |
Y70F |
possibly damaging |
Het |
Lnx1 |
T |
G |
5: 74,780,678 (GRCm39) |
D330A |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,664,234 (GRCm39) |
N106S |
probably benign |
Het |
Mamdc4 |
C |
A |
2: 25,459,759 (GRCm39) |
R135L |
possibly damaging |
Het |
Mcm3ap |
A |
G |
10: 76,340,121 (GRCm39) |
E1464G |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,034,280 (GRCm39) |
V666A |
possibly damaging |
Het |
Mettl3 |
T |
A |
14: 52,534,385 (GRCm39) |
E331D |
probably benign |
Het |
Mphosph9 |
T |
C |
5: 124,405,204 (GRCm39) |
K789R |
probably damaging |
Het |
Mtf2 |
T |
C |
5: 108,239,995 (GRCm39) |
L234P |
probably damaging |
Het |
Ncdn |
C |
A |
4: 126,642,491 (GRCm39) |
E389* |
probably null |
Het |
Ndor1 |
A |
G |
2: 25,139,279 (GRCm39) |
S231P |
probably damaging |
Het |
Nelfa |
T |
G |
5: 34,056,215 (GRCm39) |
K483Q |
probably damaging |
Het |
Odad1 |
T |
A |
7: 45,592,282 (GRCm39) |
M354K |
probably benign |
Het |
Opn1sw |
C |
T |
6: 29,378,923 (GRCm39) |
R243Q |
probably benign |
Het |
Or13a24 |
T |
A |
7: 140,155,034 (GRCm39) |
|
probably null |
Het |
Or9e1 |
A |
G |
11: 58,732,792 (GRCm39) |
N284S |
probably damaging |
Het |
Plcb3 |
A |
T |
19: 6,935,041 (GRCm39) |
M870K |
possibly damaging |
Het |
Poc5 |
A |
G |
13: 96,528,152 (GRCm39) |
D16G |
probably damaging |
Het |
Prpf40a |
A |
G |
2: 53,035,852 (GRCm39) |
I633T |
probably damaging |
Het |
Ptpn13 |
G |
T |
5: 103,704,044 (GRCm39) |
E1359* |
probably null |
Het |
Ptprr |
C |
A |
10: 116,024,113 (GRCm39) |
Y4* |
probably null |
Het |
Rbm45 |
T |
C |
2: 76,202,503 (GRCm39) |
|
probably null |
Het |
Rfng |
C |
T |
11: 120,672,687 (GRCm39) |
W320* |
probably null |
Het |
Rgs6 |
G |
T |
12: 83,138,547 (GRCm39) |
V294L |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,169,002 (GRCm39) |
|
probably null |
Het |
Ruvbl2 |
T |
A |
7: 45,073,566 (GRCm39) |
N313I |
probably damaging |
Het |
Sema4g |
G |
A |
19: 44,981,256 (GRCm39) |
V70M |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,918,078 (GRCm39) |
T969A |
probably benign |
Het |
Slc22a27 |
T |
A |
19: 7,844,348 (GRCm39) |
T431S |
possibly damaging |
Het |
Slc25a16 |
G |
A |
10: 62,756,643 (GRCm39) |
R38H |
probably damaging |
Het |
Slc38a6 |
T |
C |
12: 73,391,626 (GRCm39) |
V296A |
probably benign |
Het |
Slc39a11 |
C |
T |
11: 113,196,748 (GRCm39) |
V212I |
probably damaging |
Het |
Sltm |
A |
G |
9: 70,493,948 (GRCm39) |
K782E |
probably damaging |
Het |
Styxl1 |
T |
A |
5: 135,799,175 (GRCm39) |
Y23F |
probably damaging |
Het |
Svs4 |
T |
C |
2: 164,120,148 (GRCm39) |
I20V |
unknown |
Het |
Syt14 |
G |
T |
1: 192,613,084 (GRCm39) |
T572K |
possibly damaging |
Het |
Tbc1d5 |
A |
T |
17: 51,227,603 (GRCm39) |
I214N |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,227,223 (GRCm39) |
S283P |
probably benign |
Het |
Tmtc1 |
C |
T |
6: 148,147,208 (GRCm39) |
|
probably null |
Het |
Ttll7 |
T |
A |
3: 146,602,422 (GRCm39) |
N73K |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,602,802 (GRCm39) |
K18473N |
probably damaging |
Het |
Ubr2 |
A |
C |
17: 47,278,173 (GRCm39) |
Y721* |
probably null |
Het |
Vmn1r14 |
T |
A |
6: 57,211,286 (GRCm39) |
I288N |
probably damaging |
Het |
Vmn2r103 |
T |
C |
17: 19,993,662 (GRCm39) |
I13T |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,678,494 (GRCm39) |
Y1162* |
probably null |
Het |
Vps51 |
C |
A |
19: 6,121,497 (GRCm39) |
R175L |
probably benign |
Het |
Zfp523 |
C |
A |
17: 28,423,473 (GRCm39) |
S149R |
probably benign |
Het |
Zik1 |
A |
G |
7: 10,224,053 (GRCm39) |
I348T |
possibly damaging |
Het |
Znfx1 |
T |
A |
2: 166,898,708 (GRCm39) |
H72L |
probably benign |
Het |
|
Other mutations in Pik3cd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01308:Pik3cd
|
APN |
4 |
149,741,917 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01536:Pik3cd
|
APN |
4 |
149,737,123 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01636:Pik3cd
|
APN |
4 |
149,738,772 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02794:Pik3cd
|
APN |
4 |
149,739,028 (GRCm39) |
missense |
probably benign |
|
grand_tetons
|
UTSW |
4 |
149,737,156 (GRCm39) |
missense |
probably damaging |
1.00 |
Helena
|
UTSW |
4 |
149,736,277 (GRCm39) |
missense |
probably damaging |
1.00 |
stinger
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
F5770:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Pik3cd
|
UTSW |
4 |
149,740,836 (GRCm39) |
critical splice donor site |
probably null |
|
R0309:Pik3cd
|
UTSW |
4 |
149,747,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R1246:Pik3cd
|
UTSW |
4 |
149,744,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R1259:Pik3cd
|
UTSW |
4 |
149,735,105 (GRCm39) |
nonsense |
probably null |
|
R1756:Pik3cd
|
UTSW |
4 |
149,743,207 (GRCm39) |
missense |
probably benign |
0.02 |
R1796:Pik3cd
|
UTSW |
4 |
149,738,576 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1887:Pik3cd
|
UTSW |
4 |
149,737,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R1988:Pik3cd
|
UTSW |
4 |
149,747,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R2089:Pik3cd
|
UTSW |
4 |
149,737,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R2091:Pik3cd
|
UTSW |
4 |
149,737,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Pik3cd
|
UTSW |
4 |
149,743,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R5391:Pik3cd
|
UTSW |
4 |
149,743,588 (GRCm39) |
missense |
probably damaging |
0.98 |
R5603:Pik3cd
|
UTSW |
4 |
149,743,312 (GRCm39) |
missense |
probably benign |
|
R6282:Pik3cd
|
UTSW |
4 |
149,744,200 (GRCm39) |
missense |
probably benign |
0.00 |
R6453:Pik3cd
|
UTSW |
4 |
149,736,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R7286:Pik3cd
|
UTSW |
4 |
149,744,171 (GRCm39) |
missense |
probably benign |
0.08 |
R7423:Pik3cd
|
UTSW |
4 |
149,736,220 (GRCm39) |
critical splice donor site |
probably null |
|
R7508:Pik3cd
|
UTSW |
4 |
149,739,040 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7665:Pik3cd
|
UTSW |
4 |
149,738,507 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7897:Pik3cd
|
UTSW |
4 |
149,741,726 (GRCm39) |
missense |
probably benign |
0.06 |
R8039:Pik3cd
|
UTSW |
4 |
149,744,323 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8476:Pik3cd
|
UTSW |
4 |
149,736,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R9015:Pik3cd
|
UTSW |
4 |
149,740,055 (GRCm39) |
missense |
probably benign |
0.06 |
R9252:Pik3cd
|
UTSW |
4 |
149,740,087 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9704:Pik3cd
|
UTSW |
4 |
149,739,839 (GRCm39) |
missense |
probably benign |
0.17 |
V7580:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
V7581:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
V7582:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
V7583:Pik3cd
|
UTSW |
4 |
149,741,776 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Pik3cd
|
UTSW |
4 |
149,744,491 (GRCm39) |
missense |
probably benign |
0.04 |
Z1176:Pik3cd
|
UTSW |
4 |
149,739,304 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGAGGTAGAGGCCAGGTTCATCC -3'
(R):5'- ACGAAGTCCAGGAGCATTTCCCAG -3'
Sequencing Primer
(F):5'- GGTTCATCCCAACCCAGC -3'
(R):5'- TGCTGCTGGTCACCAAGTG -3'
|
Posted On |
2014-04-13 |