Incidental Mutation 'R1887:Pik3cd'
ID |
209631 |
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 |
039908-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R1887 (G1)
|
Quality Score |
191 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
149733625-149787023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 149737091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 902
(I902F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000039144]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000105691]
[ENSMUST00000177654]
[ENSMUST00000122059]
[ENSMUST00000118704]
|
AlphaFold |
O35904 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038859
AA Change: I900F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000036434 Gene: ENSMUSG00000039936 AA Change: I900F
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 |
possibly damaging
Transcript: ENSMUST00000105688
AA Change: I899F
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101313 Gene: ENSMUSG00000039936 AA Change: I899F
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: I898F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101314 Gene: ENSMUSG00000039936 AA Change: I898F
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: I902F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000101315 Gene: ENSMUSG00000039936 AA Change: I902F
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: ENSMUST00000177654
AA Change: I902F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000136045 Gene: ENSMUSG00000039936 AA Change: I902F
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 |
possibly damaging
Transcript: ENSMUST00000122059
AA Change: I895F
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113844 Gene: ENSMUSG00000039936 AA Change: I895F
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: ENSMUST00000118704
AA Change: I901F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112863 Gene: ENSMUSG00000039936 AA Change: I901F
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 |
noncoding transcript
Transcript: ENSMUST00000185093
|
Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.1%
- 10x: 93.2%
- 20x: 86.9%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
1700102P08Rik |
T |
A |
9: 108,270,809 (GRCm39) |
D124E |
possibly damaging |
Het |
4930544D05Rik |
A |
G |
11: 70,507,249 (GRCm39) |
E98G |
probably damaging |
Het |
Abca8a |
A |
T |
11: 109,980,768 (GRCm39) |
M90K |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,849,769 (GRCm39) |
|
probably null |
Het |
Adora3 |
A |
C |
3: 105,812,152 (GRCm39) |
N13H |
possibly damaging |
Het |
Aen |
A |
T |
7: 78,557,073 (GRCm39) |
D307V |
probably damaging |
Het |
Akr1c18 |
T |
A |
13: 4,193,287 (GRCm39) |
N126I |
probably benign |
Het |
Ankmy2 |
T |
A |
12: 36,220,467 (GRCm39) |
M51K |
possibly damaging |
Het |
Antkmt |
C |
A |
17: 26,010,319 (GRCm39) |
|
probably null |
Het |
Apc |
A |
G |
18: 34,405,521 (GRCm39) |
E159G |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,282,081 (GRCm39) |
S4R |
probably damaging |
Het |
Atg2b |
G |
A |
12: 105,620,351 (GRCm39) |
T784M |
probably benign |
Het |
Atp11a |
A |
G |
8: 12,862,324 (GRCm39) |
N59D |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,595,861 (GRCm39) |
Y1875C |
probably benign |
Het |
Capza1 |
A |
T |
3: 104,747,096 (GRCm39) |
|
probably null |
Het |
Ccdc81 |
T |
C |
7: 89,515,819 (GRCm39) |
E620G |
possibly damaging |
Het |
Cdcp2 |
T |
C |
4: 106,959,899 (GRCm39) |
F105L |
probably damaging |
Het |
Cdhr18 |
A |
C |
14: 13,828,607 (GRCm38) |
Y718D |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,462,225 (GRCm39) |
M58K |
probably benign |
Het |
Comtd1 |
A |
G |
14: 21,897,809 (GRCm39) |
L108P |
probably damaging |
Het |
Cyp2b13 |
A |
G |
7: 25,788,075 (GRCm39) |
Y401C |
probably damaging |
Het |
Dap3 |
A |
G |
3: 88,838,281 (GRCm39) |
L86P |
probably damaging |
Het |
Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
Eea1 |
T |
A |
10: 95,854,073 (GRCm39) |
|
probably null |
Het |
Eeig1 |
T |
A |
2: 32,450,140 (GRCm39) |
N129K |
possibly damaging |
Het |
Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
Fam171a1 |
T |
C |
2: 3,221,380 (GRCm39) |
V157A |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,878,357 (GRCm39) |
I3375F |
probably damaging |
Het |
Fmod |
A |
G |
1: 133,968,551 (GRCm39) |
E197G |
possibly damaging |
Het |
Fsd1l |
T |
C |
4: 53,696,984 (GRCm39) |
|
probably null |
Het |
Gbp2b |
A |
G |
3: 142,314,063 (GRCm39) |
T448A |
probably benign |
Het |
Gpatch1 |
A |
T |
7: 35,002,813 (GRCm39) |
N232K |
probably damaging |
Het |
H2-Q4 |
A |
G |
17: 35,599,113 (GRCm39) |
R128G |
possibly damaging |
Het |
Hc |
T |
C |
2: 34,924,623 (GRCm39) |
I435V |
probably benign |
Het |
Hmgxb3 |
A |
G |
18: 61,270,473 (GRCm39) |
|
probably null |
Het |
Il23r |
A |
T |
6: 67,450,785 (GRCm39) |
D231E |
possibly damaging |
Het |
Irag1 |
A |
G |
7: 110,523,740 (GRCm39) |
|
probably null |
Het |
Kcnt2 |
T |
A |
1: 140,511,985 (GRCm39) |
S1023T |
probably damaging |
Het |
Klc2 |
A |
G |
19: 5,158,640 (GRCm39) |
V618A |
probably benign |
Het |
Lzts1 |
T |
C |
8: 69,591,485 (GRCm39) |
D221G |
probably damaging |
Het |
Mdn1 |
G |
C |
4: 32,742,540 (GRCm39) |
R3926P |
probably damaging |
Het |
Med24 |
A |
G |
11: 98,609,642 (GRCm39) |
|
probably benign |
Het |
Mga |
T |
A |
2: 119,754,098 (GRCm39) |
L869Q |
probably damaging |
Het |
Mob3a |
G |
A |
10: 80,527,068 (GRCm39) |
Q86* |
probably null |
Het |
Ncoa7 |
T |
C |
10: 30,524,448 (GRCm39) |
N823S |
possibly damaging |
Het |
Nlrp5 |
T |
A |
7: 23,116,909 (GRCm39) |
V211D |
probably damaging |
Het |
Nr1h4 |
A |
T |
10: 89,290,729 (GRCm39) |
M433K |
possibly damaging |
Het |
Ofcc1 |
T |
C |
13: 40,360,100 (GRCm39) |
S310G |
possibly damaging |
Het |
Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,985 (GRCm39) |
N7D |
probably benign |
Het |
Or8k22 |
A |
G |
2: 86,163,617 (GRCm39) |
F28L |
possibly damaging |
Het |
Pdlim7 |
C |
T |
13: 55,653,981 (GRCm39) |
G212D |
probably benign |
Het |
Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
Pip5kl1 |
A |
G |
2: 32,468,517 (GRCm39) |
T198A |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,647,499 (GRCm39) |
V3641A |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,265,839 (GRCm39) |
V475A |
probably benign |
Het |
Rpl37 |
C |
T |
15: 5,148,072 (GRCm39) |
T83M |
possibly damaging |
Het |
Scml4 |
A |
G |
10: 42,788,223 (GRCm39) |
Y51C |
probably damaging |
Het |
Serinc5 |
A |
T |
13: 92,838,214 (GRCm39) |
D340V |
possibly damaging |
Het |
Stambpl1 |
A |
G |
19: 34,213,808 (GRCm39) |
I346V |
probably benign |
Het |
Syna |
G |
A |
5: 134,588,106 (GRCm39) |
S281L |
probably benign |
Het |
Tcstv2a |
G |
T |
13: 120,725,604 (GRCm39) |
K89N |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,193,094 (GRCm39) |
T447A |
possibly damaging |
Het |
Tgfbr3 |
A |
G |
5: 107,284,874 (GRCm39) |
F592L |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,160,310 (GRCm39) |
F176I |
possibly damaging |
Het |
Trip4 |
T |
A |
9: 65,782,163 (GRCm39) |
I190F |
probably null |
Het |
Ttc6 |
T |
A |
12: 57,720,044 (GRCm39) |
S872T |
probably benign |
Het |
Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,182,871 (GRCm39) |
L419P |
probably damaging |
Het |
Ush2a |
C |
A |
1: 188,132,177 (GRCm39) |
Q800K |
probably benign |
Het |
Vmn2r115 |
T |
C |
17: 23,565,007 (GRCm39) |
I298T |
possibly damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,491,288 (GRCm39) |
T320A |
possibly damaging |
Het |
Zfp804b |
T |
C |
5: 6,820,376 (GRCm39) |
R860G |
probably damaging |
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 |
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'- TTCCATGCCCCTTGAGAGAC -3'
(R):5'- GGCCTAAGCTCTGGGACTATATAC -3'
Sequencing Primer
(F):5'- CCTTGAGAGACCCAGGCGAAG -3'
(R):5'- TCTGTTGAGTAAAGCACGCC -3'
|
Posted On |
2014-06-30 |