Incidental Mutation 'R1259:Pik3cd'
| ID |
151535 |
| 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 |
039326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R1259 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
149733625-149787023 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 149735105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1046
(R1046*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000039144]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000105691]
[ENSMUST00000118704]
[ENSMUST00000177654]
[ENSMUST00000122059]
|
| AlphaFold |
O35904 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038859
AA Change: R1044*
|
| SMART Domains |
Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: R1044*
| 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 |
probably null
Transcript: ENSMUST00000105688
AA Change: R1043*
|
| SMART Domains |
Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: R1043*
| 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 null
Transcript: ENSMUST00000105689
AA Change: R1042*
|
| SMART Domains |
Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: R1042*
| 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 null
Transcript: ENSMUST00000105690
AA Change: R1046*
|
| SMART Domains |
Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: R1046*
| 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 null
Transcript: ENSMUST00000118704
AA Change: R1045*
|
| SMART Domains |
Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: R1045*
| 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 null
Transcript: ENSMUST00000177654
AA Change: R1046*
|
| SMART Domains |
Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: R1046*
| 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 null
Transcript: ENSMUST00000122059
AA Change: R1039*
|
| SMART Domains |
Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: R1039*
| 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 |
noncoding transcript
Transcript: ENSMUST00000185093
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
A |
8: 44,021,684 (GRCm39) |
D602V |
probably benign |
Het |
| Adam26a |
T |
C |
8: 44,021,750 (GRCm39) |
D580G |
possibly damaging |
Het |
| B4galt6 |
T |
G |
18: 20,839,559 (GRCm39) |
E125A |
possibly damaging |
Het |
| Dnm1l |
A |
G |
16: 16,141,870 (GRCm39) |
I292T |
possibly damaging |
Het |
| Elp3 |
A |
T |
14: 65,785,388 (GRCm39) |
I471K |
probably damaging |
Het |
| Fbxw13 |
A |
T |
9: 109,014,439 (GRCm39) |
V83E |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,125,111 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap6-5 |
C |
T |
16: 88,844,607 (GRCm39) |
R42H |
unknown |
Het |
| Lpcat2b |
C |
T |
5: 107,581,763 (GRCm39) |
A364V |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Lypd9 |
A |
G |
11: 58,338,296 (GRCm39) |
I32T |
probably benign |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,464 (GRCm39) |
|
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,169 (GRCm39) |
L197Q |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,519,875 (GRCm39) |
I34N |
probably damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,796,771 (GRCm39) |
F871L |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,097,324 (GRCm39) |
D493V |
probably damaging |
Het |
| Pom121l2 |
G |
A |
13: 22,166,297 (GRCm39) |
W189* |
probably null |
Het |
| Prex2 |
C |
A |
1: 11,359,494 (GRCm39) |
N1567K |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,245,472 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
C |
6: 137,369,739 (GRCm39) |
V517A |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,239,763 (GRCm39) |
I267F |
probably damaging |
Het |
| Wasf3 |
T |
C |
5: 146,388,786 (GRCm39) |
V80A |
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 |
|
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 |
|
|
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'- AAGCAGTGGTGTGGTTCTTCCC -3'
(R):5'- TCCCCTGAAGGTCACATGACACTC -3'
Sequencing Primer
(F):5'- TTCTTCCCCATGAGGGACAG -3'
(R):5'- CTCTGACATTTGAGTCAACGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation