Incidental Mutation 'R7665:Pik3cd'
| ID |
591847 |
| 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 |
045739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R7665 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
149649168-149702571 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 149654050 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 777
(V777M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038859]
[ENSMUST00000105688]
[ENSMUST00000105689]
[ENSMUST00000105690]
[ENSMUST00000118704]
[ENSMUST00000122059]
[ENSMUST00000177654]
|
| AlphaFold |
O35904 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038859
AA Change: V775M
PolyPhen 2
Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: V775M
| 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 |
possibly damaging
Transcript: ENSMUST00000105688
AA Change: V774M
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: V774M
| 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: V773M
PolyPhen 2
Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: V773M
| 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: V777M
PolyPhen 2
Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: V777M
| 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: ENSMUST00000118704
AA Change: V776M
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: V776M
| 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 |
possibly damaging
Transcript: ENSMUST00000122059
AA Change: V770M
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: V770M
| 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 |
possibly damaging
Transcript: ENSMUST00000177654
AA Change: V777M
PolyPhen 2
Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: V777M
| 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 |
|
| Meta Mutation Damage Score |
0.0645 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 114,874,323 (GRCm38) |
|
probably null |
Het |
| A830018L16Rik |
T |
C |
1: 11,972,099 (GRCm38) |
S448P |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 122,044,490 (GRCm38) |
|
probably benign |
Het |
| Ackr2 |
A |
G |
9: 121,909,308 (GRCm38) |
M250V |
probably benign |
Het |
| Actn4 |
A |
G |
7: 28,916,207 (GRCm38) |
I147T |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,499,142 (GRCm38) |
S3093N |
probably damaging |
Het |
| Arid5b |
C |
T |
10: 68,098,587 (GRCm38) |
G495E |
probably benign |
Het |
| Armh1 |
C |
A |
4: 117,213,741 (GRCm38) |
A396S |
probably benign |
Het |
| Brwd1 |
G |
A |
16: 96,041,343 (GRCm38) |
T798M |
probably benign |
Het |
| Cdk13 |
G |
A |
13: 17,772,553 (GRCm38) |
T540I |
possibly damaging |
Het |
| Cdkn1c |
A |
G |
7: 143,460,634 (GRCm38) |
V25A |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,976,700 (GRCm38) |
E1420G |
unknown |
Het |
| Dbf4 |
G |
A |
5: 8,397,867 (GRCm38) |
P448S |
probably damaging |
Het |
| Dnajb7 |
T |
C |
15: 81,407,419 (GRCm38) |
N239S |
probably benign |
Het |
| Dnttip1 |
A |
G |
2: 164,754,141 (GRCm38) |
D102G |
probably damaging |
Het |
| Dpp8 |
T |
A |
9: 65,078,718 (GRCm38) |
V830D |
probably damaging |
Het |
| Eef1g |
T |
C |
19: 8,968,289 (GRCm38) |
V29A |
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,839,394 (GRCm38) |
Y906F |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,006,016 (GRCm38) |
L23P |
possibly damaging |
Het |
| Epp13 |
G |
A |
7: 6,269,892 (GRCm38) |
|
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,543,573 (GRCm38) |
M248K |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,490,875 (GRCm38) |
Y982C |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 38,889,178 (GRCm38) |
A740V |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,981,805 (GRCm38) |
S2823T |
probably benign |
Het |
| Gckr |
T |
C |
5: 31,297,555 (GRCm38) |
|
|
Het |
| Gpr150 |
A |
T |
13: 76,055,974 (GRCm38) |
V284E |
probably damaging |
Het |
| Grtp1 |
T |
G |
8: 13,177,103 (GRCm38) |
I344L |
probably benign |
Het |
| Heatr5a |
T |
A |
12: 51,961,530 (GRCm38) |
N10I |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 56,153,155 (GRCm38) |
L2109I |
probably damaging |
Het |
| Hs1bp3 |
T |
A |
12: 8,317,935 (GRCm38) |
D61E |
probably damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,594,883 (GRCm38) |
Y58F |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 85,764,350 (GRCm38) |
F317L |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,841,603 (GRCm38) |
I764T |
unknown |
Het |
| Med8 |
A |
C |
4: 118,411,656 (GRCm38) |
|
probably null |
Het |
| Mpeg1 |
C |
A |
19: 12,463,094 (GRCm38) |
P639T |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,316,309 (GRCm38) |
L456P |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,925,795 (GRCm38) |
S556P |
probably damaging |
Het |
| Nphp3 |
T |
A |
9: 104,005,393 (GRCm38) |
|
probably null |
Het |
| Nup205 |
T |
C |
6: 35,177,620 (GRCm38) |
V53A |
possibly damaging |
Het |
| Nvl |
A |
T |
1: 181,134,944 (GRCm38) |
S154T |
probably benign |
Het |
| Olfr239 |
G |
T |
17: 33,199,629 (GRCm38) |
G194* |
probably null |
Het |
| Olfr391-ps |
A |
T |
11: 73,798,961 (GRCm38) |
N265K |
probably benign |
Het |
| Olfr615 |
A |
T |
7: 103,561,316 (GRCm38) |
I280F |
probably benign |
Het |
| Olfr706 |
A |
T |
7: 106,886,673 (GRCm38) |
V48D |
possibly damaging |
Het |
| Olfr827 |
T |
A |
10: 130,211,261 (GRCm38) |
|
probably null |
Het |
| Olfr92 |
A |
G |
17: 37,111,391 (GRCm38) |
M197T |
probably benign |
Het |
| Parvg |
T |
C |
15: 84,337,801 (GRCm38) |
I243T |
probably damaging |
Het |
| Paxip1 |
T |
A |
5: 27,765,738 (GRCm38) |
M538L |
unknown |
Het |
| Pgghg |
G |
T |
7: 140,945,469 (GRCm38) |
D428Y |
probably damaging |
Het |
| Plcl2 |
A |
C |
17: 50,607,157 (GRCm38) |
K398T |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,324,538 (GRCm38) |
|
probably null |
Het |
| Rbbp6 |
T |
C |
7: 122,994,686 (GRCm38) |
Y514H |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,990,032 (GRCm38) |
|
probably null |
Het |
| Scin |
T |
A |
12: 40,069,415 (GRCm38) |
N538I |
probably damaging |
Het |
| Sdcbp |
A |
G |
4: 6,385,144 (GRCm38) |
D121G |
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,996,662 (GRCm38) |
I311T |
probably damaging |
Het |
| Shq1 |
A |
C |
6: 100,573,756 (GRCm38) |
L407W |
probably damaging |
Het |
| Sipa1 |
A |
T |
19: 5,651,671 (GRCm38) |
S979T |
probably benign |
Het |
| Slc25a37 |
G |
T |
14: 69,249,579 (GRCm38) |
T85K |
probably benign |
Het |
| Soga3 |
T |
A |
10: 29,196,397 (GRCm38) |
Y562N |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 94,013,654 (GRCm38) |
Q112L |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 122,066,267 (GRCm38) |
V1686E |
probably damaging |
Het |
| Stap2 |
A |
G |
17: 55,997,909 (GRCm38) |
V291A |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,680,526 (GRCm38) |
R886C |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,720,951 (GRCm38) |
D138E |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,680,474 (GRCm38) |
S1426P |
probably benign |
Het |
| Vav1 |
G |
A |
17: 57,297,086 (GRCm38) |
V163M |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 85,151,988 (GRCm38) |
K247* |
probably null |
Het |
| Zc2hc1c |
T |
C |
12: 85,296,562 (GRCm38) |
V491A |
possibly damaging |
Het |
| Zfp51 |
A |
G |
17: 21,463,581 (GRCm38) |
T153A |
probably benign |
Het |
| Zyx |
A |
G |
6: 42,356,162 (GRCm38) |
E374G |
probably damaging |
Het |
|
| Other mutations in Pik3cd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Pik3cd
|
APN |
4 |
149,657,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01536:Pik3cd
|
APN |
4 |
149,652,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01636:Pik3cd
|
APN |
4 |
149,654,315 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02794:Pik3cd
|
APN |
4 |
149,654,571 (GRCm38) |
missense |
probably benign |
|
|
grand_tetons
|
UTSW |
4 |
149,652,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Helena
|
UTSW |
4 |
149,651,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
stinger
|
UTSW |
4 |
149,657,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
F5770:Pik3cd
|
UTSW |
4 |
149,657,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0003:Pik3cd
|
UTSW |
4 |
149,656,379 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0309:Pik3cd
|
UTSW |
4 |
149,663,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1246:Pik3cd
|
UTSW |
4 |
149,659,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1259:Pik3cd
|
UTSW |
4 |
149,650,648 (GRCm38) |
nonsense |
probably null |
|
|
R1533:Pik3cd
|
UTSW |
4 |
149,655,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1756:Pik3cd
|
UTSW |
4 |
149,658,750 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1796:Pik3cd
|
UTSW |
4 |
149,654,119 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1887:Pik3cd
|
UTSW |
4 |
149,652,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1988:Pik3cd
|
UTSW |
4 |
149,663,203 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2089:Pik3cd
|
UTSW |
4 |
149,652,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2091:Pik3cd
|
UTSW |
4 |
149,652,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4997:Pik3cd
|
UTSW |
4 |
149,658,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5391:Pik3cd
|
UTSW |
4 |
149,659,131 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5603:Pik3cd
|
UTSW |
4 |
149,658,855 (GRCm38) |
missense |
probably benign |
|
|
R6282:Pik3cd
|
UTSW |
4 |
149,659,743 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6453:Pik3cd
|
UTSW |
4 |
149,652,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7286:Pik3cd
|
UTSW |
4 |
149,659,714 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7423:Pik3cd
|
UTSW |
4 |
149,651,763 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7508:Pik3cd
|
UTSW |
4 |
149,654,583 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7897:Pik3cd
|
UTSW |
4 |
149,657,269 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8039:Pik3cd
|
UTSW |
4 |
149,659,866 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8476:Pik3cd
|
UTSW |
4 |
149,651,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9015:Pik3cd
|
UTSW |
4 |
149,655,598 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9252:Pik3cd
|
UTSW |
4 |
149,655,630 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9704:Pik3cd
|
UTSW |
4 |
149,655,382 (GRCm38) |
missense |
probably benign |
0.17 |
|
V7580:Pik3cd
|
UTSW |
4 |
149,657,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
V7581:Pik3cd
|
UTSW |
4 |
149,657,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
V7582:Pik3cd
|
UTSW |
4 |
149,657,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
V7583:Pik3cd
|
UTSW |
4 |
149,657,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0023:Pik3cd
|
UTSW |
4 |
149,660,034 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1176:Pik3cd
|
UTSW |
4 |
149,654,847 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTGCAGAGTCAGCATGTCC -3'
(R):5'- ATATGTGCATGCGCCAGGAG -3'
Sequencing Primer
(F):5'- AGAGTCAGCATGTCCTGGCG -3'
(R):5'- ATGCGCCAGGAGACCTACATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation