Incidental Mutation 'R5603:Pik3cd'
| ID |
439122 |
| 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 |
043155-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R5603 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
149733625-149787023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 149743312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 263
(C263S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000127273]
[ENSMUST00000177654]
[ENSMUST00000134534]
[ENSMUST00000146612]
[ENSMUST00000131224]
[ENSMUST00000156309]
|
| AlphaFold |
O35904 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038859
AA Change: C263S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: C263S
| 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: C263S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: C263S
| 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: C263S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: C263S
| 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: C263S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: C263S
| 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: C263S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: C263S
| 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: C263S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: C263S
| 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: C263S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: C263S
| 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: 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: 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: ENSMUST00000156309
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
A |
G |
5: 144,202,787 (GRCm39) |
S509P |
probably damaging |
Het |
| Bud31 |
T |
C |
5: 145,081,769 (GRCm39) |
I52T |
possibly damaging |
Het |
| Cacna1g |
C |
T |
11: 94,330,578 (GRCm39) |
S979N |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,221,246 (GRCm39) |
W253R |
probably damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,330 (GRCm39) |
Y118H |
probably damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,721,497 (GRCm39) |
T71A |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,689,683 (GRCm39) |
T19A |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,603 (GRCm39) |
V850D |
probably damaging |
Het |
| Cpsf2 |
C |
A |
12: 101,964,890 (GRCm39) |
Q513K |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,420,078 (GRCm39) |
V3792G |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Exoc6b |
T |
C |
6: 84,812,126 (GRCm39) |
D625G |
possibly damaging |
Het |
| Gad1 |
C |
A |
2: 70,420,173 (GRCm39) |
F352L |
probably damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,900,395 (GRCm39) |
E162G |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,747,786 (GRCm39) |
F333I |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,924,358 (GRCm39) |
F1952L |
probably benign |
Het |
| Ighv1-42 |
C |
T |
12: 114,901,132 (GRCm39) |
|
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,450,706 (GRCm39) |
T578A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mfsd14b |
T |
C |
13: 65,221,420 (GRCm39) |
K291E |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,564,331 (GRCm39) |
L379P |
probably damaging |
Het |
| Mtmr6 |
A |
T |
14: 60,522,450 (GRCm39) |
K183* |
probably null |
Het |
| Mylk |
A |
G |
16: 34,776,862 (GRCm39) |
N1345S |
probably benign |
Het |
| Nab2 |
A |
T |
10: 127,500,990 (GRCm39) |
M1K |
probably null |
Het |
| Ngly1 |
C |
A |
14: 16,260,762 (GRCm38) |
Q149K |
probably benign |
Het |
| Npy6r |
T |
A |
18: 44,409,652 (GRCm39) |
S358T |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,907,228 (GRCm39) |
T156A |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,344,066 (GRCm39) |
C455* |
probably null |
Het |
| Ptk2b |
A |
T |
14: 66,409,514 (GRCm39) |
Y507* |
probably null |
Het |
| Rbm25 |
C |
T |
12: 83,710,990 (GRCm39) |
R368* |
probably null |
Het |
| Rnf207 |
T |
C |
4: 152,396,851 (GRCm39) |
Y396C |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,506,961 (GRCm39) |
V328E |
possibly damaging |
Het |
| Slc3a2 |
A |
G |
19: 8,691,092 (GRCm39) |
V7A |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,828,575 (GRCm39) |
V265I |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,239,705 (GRCm39) |
V108D |
possibly damaging |
Het |
| Ugt1a2 |
T |
C |
1: 88,129,148 (GRCm39) |
Y264H |
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 |
|
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 |
|
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'- TGCTTTCATCCCAGCAGAC -3'
(R):5'- AAAAGGCCACAGTGTTCCG -3'
Sequencing Primer
(F):5'- TTTCATCCCAGCAGACCAAGAATAC -3'
(R):5'- ATATGCCCTGCAGGTGAAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation