Incidental Mutation 'R6282:Pik3cd'
ID |
507991 |
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 |
044452-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R6282 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
149733625-149787023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 149744200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 184
(R184S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000127273]
[ENSMUST00000177654]
[ENSMUST00000131224]
[ENSMUST00000146612]
[ENSMUST00000134534]
[ENSMUST00000156309]
|
AlphaFold |
O35904 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038859
AA Change: R184S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000036434 Gene: ENSMUSG00000039936 AA Change: R184S
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: ENSMUST00000105688
AA Change: R184S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101313 Gene: ENSMUSG00000039936 AA Change: R184S
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 benign
Transcript: ENSMUST00000105689
AA Change: R184S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000101314 Gene: ENSMUSG00000039936 AA Change: R184S
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 benign
Transcript: ENSMUST00000105690
AA Change: R184S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000101315 Gene: ENSMUSG00000039936 AA Change: R184S
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: ENSMUST00000118704
AA Change: R184S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000112863 Gene: ENSMUSG00000039936 AA Change: R184S
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 benign
Transcript: ENSMUST00000122059
AA Change: R184S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113844 Gene: ENSMUSG00000039936 AA Change: R184S
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 benign
Transcript: ENSMUST00000177654
AA Change: R184S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000136045 Gene: ENSMUSG00000039936 AA Change: R184S
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: 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 |
|
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: ENSMUST00000156309
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
98% (45/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,690,781 (GRCm39) |
L185Q |
possibly damaging |
Het |
Abca6 |
A |
T |
11: 110,099,650 (GRCm39) |
C966S |
probably damaging |
Het |
Atp13a4 |
A |
T |
16: 29,252,822 (GRCm39) |
I708N |
probably benign |
Het |
Axin1 |
C |
G |
17: 26,362,011 (GRCm39) |
D118E |
probably damaging |
Het |
Bace2 |
A |
T |
16: 97,216,297 (GRCm39) |
I297F |
probably damaging |
Het |
Ccdc30 |
T |
A |
4: 119,181,214 (GRCm39) |
D649V |
probably damaging |
Het |
Cd180 |
G |
A |
13: 102,830,265 (GRCm39) |
A20T |
possibly damaging |
Het |
Cdk18 |
T |
C |
1: 132,047,758 (GRCm39) |
D112G |
probably damaging |
Het |
Cuedc1 |
A |
G |
11: 88,074,228 (GRCm39) |
N254S |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,542,760 (GRCm39) |
H2470R |
probably damaging |
Het |
Drap1 |
G |
A |
19: 5,474,464 (GRCm39) |
|
probably null |
Het |
Fbxo5 |
T |
A |
10: 5,751,216 (GRCm39) |
K257M |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm12790 |
A |
G |
4: 101,824,713 (GRCm39) |
V185A |
possibly damaging |
Het |
Gm7361 |
A |
G |
5: 26,465,411 (GRCm39) |
N136S |
probably benign |
Het |
Il10ra |
C |
A |
9: 45,171,703 (GRCm39) |
C255F |
probably damaging |
Het |
Insyn2b |
A |
G |
11: 34,352,819 (GRCm39) |
D287G |
possibly damaging |
Het |
Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,901,428 (GRCm39) |
N62I |
probably damaging |
Het |
Ldb2 |
A |
G |
5: 44,690,007 (GRCm39) |
L204P |
probably damaging |
Het |
Map2k4 |
T |
C |
11: 65,597,842 (GRCm39) |
T90A |
possibly damaging |
Het |
Mettl3 |
A |
T |
14: 52,535,428 (GRCm39) |
D287E |
probably benign |
Het |
Mier2 |
A |
G |
10: 79,380,576 (GRCm39) |
F278S |
probably damaging |
Het |
Mis18bp1 |
A |
G |
12: 65,195,937 (GRCm39) |
M609T |
probably benign |
Het |
Myo1d |
A |
T |
11: 80,448,338 (GRCm39) |
V929D |
probably damaging |
Het |
Naprt |
A |
T |
15: 75,763,828 (GRCm39) |
M364K |
probably benign |
Het |
Nod2 |
T |
A |
8: 89,397,088 (GRCm39) |
C833S |
probably benign |
Het |
Nrip3 |
C |
T |
7: 109,362,686 (GRCm39) |
|
probably null |
Het |
Ntsr2 |
A |
G |
12: 16,708,426 (GRCm39) |
Y320C |
probably damaging |
Het |
Or14j8 |
G |
A |
17: 38,263,315 (GRCm39) |
S200F |
possibly damaging |
Het |
Or4p7 |
C |
A |
2: 88,221,877 (GRCm39) |
C95* |
probably null |
Het |
Or51h1 |
G |
A |
7: 102,308,854 (GRCm39) |
M275I |
probably benign |
Het |
Osbpl3 |
A |
T |
6: 50,325,063 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
C |
T |
18: 37,434,699 (GRCm39) |
R222C |
probably damaging |
Het |
Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
Rad50 |
A |
T |
11: 53,560,597 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
A |
T |
12: 11,507,560 (GRCm39) |
H494L |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,722,863 (GRCm39) |
M762T |
probably damaging |
Het |
Sars1 |
G |
T |
3: 108,335,590 (GRCm39) |
S338* |
probably null |
Het |
Usp35 |
T |
C |
7: 96,975,155 (GRCm39) |
E6G |
probably damaging |
Het |
Vash2 |
T |
C |
1: 190,692,422 (GRCm39) |
Y251C |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdr20 |
T |
A |
12: 110,763,443 (GRCm39) |
|
probably benign |
Het |
Wfdc1 |
G |
A |
8: 120,406,146 (GRCm39) |
C87Y |
probably damaging |
Het |
Zfp985 |
T |
A |
4: 147,667,805 (GRCm39) |
H224Q |
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 |
|
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'- CACTCTGCAGTGTCAGATCTG -3'
(R):5'- CATGAGTTTGATTCCCTGCG -3'
Sequencing Primer
(F):5'- AACTCCAGTTCTACGGGATCTGAC -3'
(R):5'- TGCGGGACCCGGAAGTAAAC -3'
|
Posted On |
2018-03-15 |