Incidental Mutation 'R5391:Pik3cd'
| ID | 425840 |
|---|
| 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 |
|---|
| MMRRC Submission |
042963-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.956)
|
|---|
| Stock # | R5391 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 4 |
|---|
| Chromosomal Location | 149649168-149702571 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to T
at 149659131 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Valine to Glutamic Acid
at position 207
(V207E)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112863
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000127273]
[ENSMUST00000131224]
[ENSMUST00000134534]
[ENSMUST00000146612]
[ENSMUST00000156309]
[ENSMUST00000177654]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038859
AA Change: V207E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: V207E
| 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: V207E
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: V207E
| 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 |
possibly damaging
Transcript: ENSMUST00000105689
AA Change: V207E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: V207E
| 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 |
possibly damaging
Transcript: ENSMUST00000105690
AA Change: V207E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: V207E
| 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: V207E
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: V207E
| 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: V207E
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: V207E
| 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 benign
Transcript: ENSMUST00000156309
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177654
AA Change: V207E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: V207E
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
|---|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
G |
A |
5: 8,805,481 |
M38I |
probably null |
Het |
| Actl7a |
A |
G |
4: 56,743,661 |
T63A |
probably benign |
Het |
| Amfr |
G |
A |
8: 93,976,048 |
P497S |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,325,206 |
I122V |
probably damaging |
Het |
| Asap1 |
G |
T |
15: 64,094,052 |
T1011K |
possibly damaging |
Het |
| Cbfa2t3 |
G |
A |
8: 122,633,395 |
R506* |
probably null |
Het |
| Ccdc105 |
G |
A |
10: 78,752,854 |
Q41* |
probably null |
Het |
| Ccs |
C |
G |
19: 4,833,482 |
C96S |
probably benign |
Het |
| Cpt1a |
A |
G |
19: 3,349,260 |
D20G |
probably damaging |
Het |
| Ctdspl2 |
G |
A |
2: 122,004,148 |
|
probably null |
Het |
| Dhx57 |
T |
C |
17: 80,275,081 |
Y365C |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 120,090,076 |
M38I |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,628,158 |
|
probably null |
Het |
| Elac2 |
A |
G |
11: 64,994,294 |
S450G |
probably benign |
Het |
| Gdf9 |
T |
C |
11: 53,433,797 |
V131A |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,292,420 |
N803S |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,985,068 |
M477K |
probably benign |
Het |
| Itgb8 |
A |
C |
12: 119,170,741 |
C530W |
probably damaging |
Het |
| Krt78 |
C |
A |
15: 101,951,828 |
E218* |
probably null |
Het |
| Lpar1 |
A |
G |
4: 58,486,902 |
L105P |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,340,289 |
G936D |
possibly damaging |
Het |
| Mov10 |
G |
A |
3: 104,802,533 |
H346Y |
probably benign |
Het |
| Nfia |
A |
G |
4: 97,783,301 |
I83V |
probably damaging |
Het |
| Olfr1453 |
G |
T |
19: 13,027,786 |
A181E |
probably damaging |
Het |
| Olfr215 |
T |
C |
6: 116,582,847 |
Y33C |
probably damaging |
Het |
| Pcdhgb6 |
T |
G |
18: 37,742,587 |
I116S |
probably damaging |
Het |
| Pdcd6ip |
G |
T |
9: 113,691,518 |
Q133K |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,017,468 |
D582G |
probably damaging |
Het |
| Ptov1 |
T |
C |
7: 44,863,584 |
Q397R |
probably damaging |
Het |
| Rangap1 |
A |
G |
15: 81,706,446 |
F482L |
probably benign |
Het |
| Rapgef1 |
T |
A |
2: 29,737,965 |
N1052K |
probably damaging |
Het |
| Rasl12 |
G |
T |
9: 65,398,667 |
A35S |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,935,160 |
|
probably null |
Het |
| Sec16a |
A |
G |
2: 26,440,032 |
V657A |
possibly damaging |
Het |
| Sin3a |
G |
A |
9: 57,105,673 |
R612H |
probably damaging |
Het |
| Six6 |
T |
A |
12: 72,941,701 |
L216* |
probably null |
Het |
| Tbce |
T |
C |
13: 14,005,965 |
I293M |
probably damaging |
Het |
| Tmem176a |
T |
C |
6: 48,844,696 |
L204P |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,362,877 |
|
probably null |
Het |
| Tns1 |
A |
T |
1: 73,990,409 |
|
probably null |
Het |
| Usf3 |
T |
A |
16: 44,217,463 |
S769T |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,356,657 |
T23A |
probably null |
Het |
| Vps26a |
A |
G |
10: 62,456,747 |
*328Q |
probably null |
Het |
| Vps51 |
T |
G |
19: 6,071,033 |
E283D |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 47,863,871 |
I729K |
unknown |
Het |
| Zbtb44 |
A |
G |
9: 31,053,305 |
|
probably null |
Het |
| Zfp800 |
A |
T |
6: 28,242,993 |
S658T |
probably damaging |
Het |
| Zfp825 |
T |
C |
13: 74,480,546 |
T284A |
possibly damaging |
Het |
| Zfp935 |
G |
T |
13: 62,454,818 |
Y189* |
probably null |
Het |
| Zkscan1 |
T |
A |
5: 138,097,101 |
H203Q |
probably benign |
Het |
| Zkscan14 |
T |
C |
5: 145,195,794 |
D309G |
probably benign |
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 |
|
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 |
|
V7580:Pik3cd
|
UTSW |
4 |
149657319 |
missense |
probably damaging |
1.00 |
|
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'- GGCTTACCTGAAAGTGGCAG -3'
(R):5'- TGTCTCATCGGGCAAATCTGG -3'
Sequencing Primer
(F):5'- CAGAGCGGGTAGTTGCCGTAG -3'
(R):5'- TGTCAGATCCCGTAGAACTGG -3'
|
|---|
| Posted On | 2016-08-04 |
|---|
