Incidental Mutation 'R6453:Pik3cd'
ID |
520099 |
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 |
044589-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R6453 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
149733625-149787023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 149736759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 933
(V933A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000039144]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000105691]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000177654]
|
AlphaFold |
O35904 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038859
AA Change: V931A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036434 Gene: ENSMUSG00000039936 AA Change: V931A
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 benign
Transcript: ENSMUST00000039144
|
SMART Domains |
Protein: ENSMUSP00000036962 Gene: ENSMUSG00000039953
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
CA
|
59 |
162 |
1.25e-11 |
SMART |
CA
|
185 |
263 |
1.03e-3 |
SMART |
Pfam:Laminin_G_3
|
365 |
510 |
3.3e-9 |
PFAM |
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
transmembrane domain
|
860 |
882 |
N/A |
INTRINSIC |
coiled coil region
|
915 |
949 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105688
AA Change: V930A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101313 Gene: ENSMUSG00000039936 AA Change: V930A
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: V929A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101314 Gene: ENSMUSG00000039936 AA Change: V929A
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: V933A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101315 Gene: ENSMUSG00000039936 AA Change: V933A
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 benign
Transcript: ENSMUST00000105691
|
SMART Domains |
Protein: ENSMUSP00000101316 Gene: ENSMUSG00000039953
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
CA
|
59 |
152 |
2.91e-12 |
SMART |
CA
|
175 |
253 |
1.03e-3 |
SMART |
Pfam:Laminin_G_3
|
350 |
544 |
1.1e-12 |
PFAM |
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
transmembrane domain
|
850 |
872 |
N/A |
INTRINSIC |
coiled coil region
|
905 |
939 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118704
AA Change: V932A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112863 Gene: ENSMUSG00000039936 AA Change: V932A
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 |
possibly damaging
Transcript: ENSMUST00000122059
AA Change: V926A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113844 Gene: ENSMUSG00000039936 AA Change: V926A
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 damaging
Transcript: ENSMUST00000177654
AA Change: V933A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136045 Gene: ENSMUSG00000039936 AA Change: V933A
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.2%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
C |
T |
17: 35,879,109 (GRCm39) |
S149L |
possibly damaging |
Het |
A830018L16Rik |
A |
T |
1: 11,868,782 (GRCm39) |
D354V |
possibly damaging |
Het |
Acta2 |
G |
A |
19: 34,224,057 (GRCm39) |
T150I |
probably damaging |
Het |
Adgra1 |
T |
A |
7: 139,455,343 (GRCm39) |
S324T |
probably benign |
Het |
Ankrd44 |
A |
T |
1: 54,696,863 (GRCm39) |
|
probably null |
Het |
B430306N03Rik |
T |
A |
17: 48,623,764 (GRCm39) |
W22R |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,426,821 (GRCm39) |
V2024E |
probably damaging |
Het |
Cers6 |
C |
T |
2: 68,877,513 (GRCm39) |
H164Y |
probably benign |
Het |
Chd3 |
T |
A |
11: 69,240,938 (GRCm39) |
K1458* |
probably null |
Het |
Cimip1 |
A |
G |
2: 173,370,052 (GRCm39) |
Y109C |
probably benign |
Het |
Col3a1 |
G |
A |
1: 45,378,538 (GRCm39) |
|
probably benign |
Het |
Cyb5d2 |
T |
G |
11: 72,673,586 (GRCm39) |
T3P |
probably benign |
Het |
Dennd1b |
A |
G |
1: 139,071,686 (GRCm39) |
Y468C |
probably benign |
Het |
Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
Exoc7 |
T |
C |
11: 116,184,795 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
G |
11: 55,173,042 (GRCm39) |
I2557T |
probably benign |
Het |
Flt1 |
T |
C |
5: 147,620,751 (GRCm39) |
D131G |
possibly damaging |
Het |
Frem1 |
G |
T |
4: 82,833,062 (GRCm39) |
S1858* |
probably null |
Het |
Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,093,917 (GRCm39) |
I700N |
probably damaging |
Het |
Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
Gria2 |
A |
G |
3: 80,648,281 (GRCm39) |
Y152H |
possibly damaging |
Het |
H2-Q2 |
C |
T |
17: 35,563,871 (GRCm39) |
L251F |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,488,655 (GRCm39) |
G3649R |
probably damaging |
Het |
Hormad1 |
A |
G |
3: 95,485,568 (GRCm39) |
E252G |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,410,042 (GRCm39) |
|
probably null |
Het |
Lmcd1 |
A |
G |
6: 112,292,789 (GRCm39) |
T214A |
probably benign |
Het |
Macrod2 |
A |
G |
2: 142,018,545 (GRCm39) |
E226G |
probably damaging |
Het |
Mcm4 |
A |
T |
16: 15,448,273 (GRCm39) |
L428Q |
probably damaging |
Het |
Msh6 |
T |
A |
17: 88,293,167 (GRCm39) |
Y641N |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
Nipa2 |
A |
T |
7: 55,585,569 (GRCm39) |
M142K |
probably damaging |
Het |
Or8b1c |
T |
C |
9: 38,384,871 (GRCm39) |
I276T |
probably benign |
Het |
Parvg |
A |
T |
15: 84,213,126 (GRCm39) |
E122V |
probably null |
Het |
Pclo |
T |
A |
5: 14,726,803 (GRCm39) |
|
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Qpctl |
C |
T |
7: 18,875,222 (GRCm39) |
V337I |
probably damaging |
Het |
Qrfprl |
G |
A |
6: 65,430,014 (GRCm39) |
G237S |
possibly damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,785,104 (GRCm39) |
W719R |
probably damaging |
Het |
Rangrf |
A |
G |
11: 68,864,378 (GRCm39) |
L28P |
probably damaging |
Het |
Rbbp9 |
G |
T |
2: 144,391,054 (GRCm39) |
Q38K |
probably benign |
Het |
Rnf169 |
C |
T |
7: 99,584,434 (GRCm39) |
M246I |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
A |
G |
5: 142,082,676 (GRCm39) |
D1098G |
probably damaging |
Het |
Sgsm3 |
T |
A |
15: 80,895,515 (GRCm39) |
S689T |
probably damaging |
Het |
Slc13a3 |
C |
T |
2: 165,253,867 (GRCm39) |
V429M |
possibly damaging |
Het |
Slc30a5 |
A |
T |
13: 100,951,197 (GRCm39) |
D228E |
probably benign |
Het |
Slc46a3 |
A |
G |
5: 147,823,200 (GRCm39) |
I214T |
possibly damaging |
Het |
Slc7a15 |
T |
C |
12: 8,584,490 (GRCm39) |
M347V |
possibly damaging |
Het |
Slc9a2 |
A |
T |
1: 40,781,781 (GRCm39) |
I337F |
possibly damaging |
Het |
Sostdc1 |
C |
A |
12: 36,364,407 (GRCm39) |
P39T |
probably benign |
Het |
Speg |
A |
G |
1: 75,394,616 (GRCm39) |
N1775S |
probably benign |
Het |
Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
Sptbn2 |
A |
T |
19: 4,794,208 (GRCm39) |
R1471W |
possibly damaging |
Het |
Thada |
T |
C |
17: 84,723,751 (GRCm39) |
E1101G |
probably damaging |
Het |
Trpm6 |
G |
A |
19: 18,807,354 (GRCm39) |
A1033T |
probably damaging |
Het |
Ttll6 |
G |
A |
11: 96,049,553 (GRCm39) |
R757H |
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 |
|
R1533:Pik3cd
|
UTSW |
4 |
149,739,653 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CTGCTGGAGACACAAACCTC -3'
(R):5'- TGGAAGCTCCCTGTTCTCTG -3'
Sequencing Primer
(F):5'- AACAGGTTTGGAGGTCACTCATCC -3'
(R):5'- GAAGCTCCCTGTTCTCTGCTTTC -3'
|
Posted On |
2018-06-06 |