Incidental Mutation 'V7580:Pik3cd'
| ID |
69409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3cd
|
| Ensembl Gene |
ENSMUSG00000039936 |
| Gene Name |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
| Synonyms |
2410099E07Rik, p110delta, 2610208K16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
V7580 ()
of strain
stinger
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
149649168-149702571 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 149657319 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 390
(L390R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000127273]
[ENSMUST00000131224]
[ENSMUST00000134534]
[ENSMUST00000146612]
[ENSMUST00000177654]
|
| AlphaFold |
O35904 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038859
AA Change: L390R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: L390R
| 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: L390R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: L390R
| 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: L390R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: L390R
| 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: L390R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: L390R
| 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: L390R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: L390R
| 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: L386R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: L386R
| 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: 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: 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 damaging
Transcript: ENSMUST00000177654
AA Change: L390R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: L390R
| 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
|
| Meta Mutation Damage Score |
0.9432 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,886,179 |
M950L |
probably benign |
Het |
| Atp6v1h |
A |
G |
1: 5,124,443 |
T282A |
possibly damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,639,944 |
H333Y |
probably benign |
Het |
| Cd36 |
ACTGTCTGT |
ACTGT |
5: 17,820,528 |
|
probably null |
Het |
| Cfi |
T |
A |
3: 129,854,992 |
I175K |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,201,011 |
T870A |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,773,093 |
N1369K |
possibly damaging |
Het |
| Dnajc22 |
T |
A |
15: 99,101,482 |
Y183N |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,855,926 |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 |
T249A |
probably benign |
Het |
| Gm10770 |
T |
A |
2: 150,179,484 |
K38* |
probably null |
Het |
| Gm4787 |
G |
A |
12: 81,377,567 |
Q606* |
probably null |
Het |
| Izumo4 |
A |
T |
10: 80,703,891 |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,710,091 |
I396V |
probably benign |
Het |
| Klc1 |
A |
T |
12: 111,774,572 |
I161F |
probably benign |
Het |
| Lpar5 |
C |
A |
6: 125,081,727 |
A137E |
possibly damaging |
Het |
| Lrp4 |
C |
T |
2: 91,488,518 |
S900L |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,455,512 |
N3176T |
possibly damaging |
Het |
| Med20 |
G |
A |
17: 47,618,832 |
V65M |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,995,204 |
|
probably null |
Het |
| Numbl |
T |
C |
7: 27,279,602 |
S379P |
probably benign |
Het |
| Olfr1406 |
G |
T |
1: 173,183,964 |
L157I |
probably benign |
Het |
| Olfr1440 |
G |
A |
19: 12,394,550 |
V96I |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,344,838 |
L432Q |
probably damaging |
Het |
| Papln |
C |
T |
12: 83,778,834 |
R608C |
possibly damaging |
Het |
| Pelp1 |
T |
A |
11: 70,398,150 |
T257S |
probably damaging |
Het |
| Pigx |
T |
C |
16: 32,087,422 |
D129G |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,654,618 |
T112A |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,220,237 |
Y257H |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,706,169 |
D705G |
possibly damaging |
Het |
| Ror1 |
A |
G |
4: 100,440,933 |
Q501R |
probably damaging |
Het |
| Slc30a4 |
T |
A |
2: 122,689,538 |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 |
E192G |
probably damaging |
Het |
| Spata31 |
C |
A |
13: 64,921,648 |
P537T |
probably benign |
Het |
| Sptbn2 |
C |
T |
19: 4,750,632 |
R2292C |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,723,326 |
R770H |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,831,577 |
K150E |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,225,060 |
V86A |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 |
C2087Y |
possibly damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,812,394 |
R724* |
probably null |
Het |
|
| Other mutations in Pik3cd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Pik3cd
|
APN |
4 |
149657460 |
missense |
probably damaging |
1.00 |
|
IGL01536:Pik3cd
|
APN |
4 |
149652666 |
missense |
probably damaging |
1.00 |
|
IGL01636:Pik3cd
|
APN |
4 |
149654315 |
missense |
possibly damaging |
0.82 |
|
IGL02794:Pik3cd
|
APN |
4 |
149654571 |
missense |
probably benign |
|
|
grand_tetons
|
UTSW |
4 |
149652699 |
missense |
probably damaging |
1.00 |
|
Helena
|
UTSW |
4 |
149651820 |
missense |
probably damaging |
1.00 |
|
stinger
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
F5770:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
R0003:Pik3cd
|
UTSW |
4 |
149656379 |
critical splice donor site |
probably null |
|
|
R0309:Pik3cd
|
UTSW |
4 |
149663220 |
missense |
probably damaging |
1.00 |
|
R1246:Pik3cd
|
UTSW |
4 |
149659800 |
missense |
probably damaging |
1.00 |
|
R1259:Pik3cd
|
UTSW |
4 |
149650648 |
nonsense |
probably null |
|
|
R1533:Pik3cd
|
UTSW |
4 |
149655196 |
missense |
probably damaging |
1.00 |
|
R1756:Pik3cd
|
UTSW |
4 |
149658750 |
missense |
probably benign |
0.02 |
|
R1796:Pik3cd
|
UTSW |
4 |
149654119 |
missense |
possibly damaging |
0.83 |
|
R1887:Pik3cd
|
UTSW |
4 |
149652634 |
missense |
probably damaging |
1.00 |
|
R1988:Pik3cd
|
UTSW |
4 |
149663203 |
missense |
probably damaging |
1.00 |
|
R2089:Pik3cd
|
UTSW |
4 |
149652699 |
missense |
probably damaging |
1.00 |
|
R2091:Pik3cd
|
UTSW |
4 |
149652699 |
missense |
probably damaging |
1.00 |
|
R4997:Pik3cd
|
UTSW |
4 |
149658984 |
missense |
probably damaging |
1.00 |
|
R5391:Pik3cd
|
UTSW |
4 |
149659131 |
missense |
probably damaging |
0.98 |
|
R5603:Pik3cd
|
UTSW |
4 |
149658855 |
missense |
probably benign |
|
|
R6282:Pik3cd
|
UTSW |
4 |
149659743 |
missense |
probably benign |
0.00 |
|
R6453:Pik3cd
|
UTSW |
4 |
149652302 |
missense |
probably damaging |
1.00 |
|
R7286:Pik3cd
|
UTSW |
4 |
149659714 |
missense |
probably benign |
0.08 |
|
R7423:Pik3cd
|
UTSW |
4 |
149651763 |
critical splice donor site |
probably null |
|
|
R7508:Pik3cd
|
UTSW |
4 |
149654583 |
missense |
possibly damaging |
0.78 |
|
R7665:Pik3cd
|
UTSW |
4 |
149654050 |
missense |
possibly damaging |
0.70 |
|
R7897:Pik3cd
|
UTSW |
4 |
149657269 |
missense |
probably benign |
0.06 |
|
R8039:Pik3cd
|
UTSW |
4 |
149659866 |
missense |
possibly damaging |
0.91 |
|
R8476:Pik3cd
|
UTSW |
4 |
149651820 |
missense |
probably damaging |
1.00 |
|
R9015:Pik3cd
|
UTSW |
4 |
149655598 |
missense |
probably benign |
0.06 |
|
R9252:Pik3cd
|
UTSW |
4 |
149655630 |
missense |
possibly damaging |
0.88 |
|
R9704:Pik3cd
|
UTSW |
4 |
149655382 |
missense |
probably benign |
0.17 |
|
V7581:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
V7582:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
V7583:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
X0023:Pik3cd
|
UTSW |
4 |
149660034 |
missense |
probably benign |
0.04 |
|
Z1176:Pik3cd
|
UTSW |
4 |
149654847 |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGAGCTGCCTACAAAAGCCTAC -3'
(R):5'- TGCCTTGGGCTATCAATGCACTG -3'
Sequencing Primer
(F):5'- TCACAGGCTATCCCTAGAGTGAG -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2013-09-04 |
Incidental Mutation