Incidental Mutation 'R1887:Pik3cd'
ID 209631
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 039908-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R1887 (G1)
Quality Score 191
Status Not validated
Chromosome 4
Chromosomal Location 149733625-149787023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 149737091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 902 (I902F)
Ref Sequence ENSEMBL: ENSMUSP00000136045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038859] [ENSMUST00000039144] [ENSMUST00000105688] [ENSMUST00000105689] [ENSMUST00000105690] [ENSMUST00000105691] [ENSMUST00000177654] [ENSMUST00000122059] [ENSMUST00000118704]
AlphaFold O35904
Predicted Effect probably damaging
Transcript: ENSMUST00000038859
AA Change: I900F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: I900F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000105688
AA Change: I899F

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: I899F

DomainStartEndE-ValueType
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: I898F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: I898F

DomainStartEndE-ValueType
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: I902F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: I902F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000177654
AA Change: I902F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: I902F

DomainStartEndE-ValueType
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: ENSMUST00000122059
AA Change: I895F

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: I895F

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000118704
AA Change: I901F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: I901F

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000185093
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.1%
  • 10x: 93.2%
  • 20x: 86.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
4930544D05Rik A G 11: 70,507,249 (GRCm39) E98G probably damaging Het
Abca8a A T 11: 109,980,768 (GRCm39) M90K probably damaging Het
Adamts9 A G 6: 92,849,769 (GRCm39) probably null Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Aen A T 7: 78,557,073 (GRCm39) D307V probably damaging Het
Akr1c18 T A 13: 4,193,287 (GRCm39) N126I probably benign Het
Ankmy2 T A 12: 36,220,467 (GRCm39) M51K possibly damaging Het
Antkmt C A 17: 26,010,319 (GRCm39) probably null Het
Apc A G 18: 34,405,521 (GRCm39) E159G probably damaging Het
Arhgef28 G T 13: 98,282,081 (GRCm39) S4R probably damaging Het
Atg2b G A 12: 105,620,351 (GRCm39) T784M probably benign Het
Atp11a A G 8: 12,862,324 (GRCm39) N59D probably damaging Het
Cacna1h T C 17: 25,595,861 (GRCm39) Y1875C probably benign Het
Capza1 A T 3: 104,747,096 (GRCm39) probably null Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdcp2 T C 4: 106,959,899 (GRCm39) F105L probably damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cep152 A T 2: 125,462,225 (GRCm39) M58K probably benign Het
Comtd1 A G 14: 21,897,809 (GRCm39) L108P probably damaging Het
Cyp2b13 A G 7: 25,788,075 (GRCm39) Y401C probably damaging Het
Dap3 A G 3: 88,838,281 (GRCm39) L86P probably damaging Het
Dmxl1 G A 18: 49,992,202 (GRCm39) R316H probably benign Het
Eea1 T A 10: 95,854,073 (GRCm39) probably null Het
Eeig1 T A 2: 32,450,140 (GRCm39) N129K possibly damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,221,380 (GRCm39) V157A probably damaging Het
Fat3 T A 9: 15,878,357 (GRCm39) I3375F probably damaging Het
Fmod A G 1: 133,968,551 (GRCm39) E197G possibly damaging Het
Fsd1l T C 4: 53,696,984 (GRCm39) probably null Het
Gbp2b A G 3: 142,314,063 (GRCm39) T448A probably benign Het
Gpatch1 A T 7: 35,002,813 (GRCm39) N232K probably damaging Het
H2-Q4 A G 17: 35,599,113 (GRCm39) R128G possibly damaging Het
Hc T C 2: 34,924,623 (GRCm39) I435V probably benign Het
Hmgxb3 A G 18: 61,270,473 (GRCm39) probably null Het
Il23r A T 6: 67,450,785 (GRCm39) D231E possibly damaging Het
Irag1 A G 7: 110,523,740 (GRCm39) probably null Het
Kcnt2 T A 1: 140,511,985 (GRCm39) S1023T probably damaging Het
Klc2 A G 19: 5,158,640 (GRCm39) V618A probably benign Het
Lzts1 T C 8: 69,591,485 (GRCm39) D221G probably damaging Het
Mdn1 G C 4: 32,742,540 (GRCm39) R3926P probably damaging Het
Med24 A G 11: 98,609,642 (GRCm39) probably benign Het
Mga T A 2: 119,754,098 (GRCm39) L869Q probably damaging Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nlrp5 T A 7: 23,116,909 (GRCm39) V211D probably damaging Het
Nr1h4 A T 10: 89,290,729 (GRCm39) M433K possibly damaging Het
Ofcc1 T C 13: 40,360,100 (GRCm39) S310G possibly damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or8k22 A G 2: 86,163,617 (GRCm39) F28L possibly damaging Het
Pdlim7 C T 13: 55,653,981 (GRCm39) G212D probably benign Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pip5kl1 A G 2: 32,468,517 (GRCm39) T198A probably damaging Het
Prkdc T C 16: 15,647,499 (GRCm39) V3641A probably benign Het
Rp1l1 T C 14: 64,265,839 (GRCm39) V475A probably benign Het
Rpl37 C T 15: 5,148,072 (GRCm39) T83M possibly damaging Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Serinc5 A T 13: 92,838,214 (GRCm39) D340V possibly damaging Het
Stambpl1 A G 19: 34,213,808 (GRCm39) I346V probably benign Het
Syna G A 5: 134,588,106 (GRCm39) S281L probably benign Het
Tcstv2a G T 13: 120,725,604 (GRCm39) K89N probably damaging Het
Tet2 T C 3: 133,193,094 (GRCm39) T447A possibly damaging Het
Tgfbr3 A G 5: 107,284,874 (GRCm39) F592L probably damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Trip4 T A 9: 65,782,163 (GRCm39) I190F probably null Het
Ttc6 T A 12: 57,720,044 (GRCm39) S872T probably benign Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ubr4 T C 4: 139,182,871 (GRCm39) L419P probably damaging Het
Ush2a C A 1: 188,132,177 (GRCm39) Q800K probably benign Het
Vmn2r115 T C 17: 23,565,007 (GRCm39) I298T possibly damaging Het
Vmn2r28 T C 7: 5,491,288 (GRCm39) T320A possibly damaging Het
Zfp804b T C 5: 6,820,376 (GRCm39) R860G probably damaging Het
Other mutations in Pik3cd
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTCCATGCCCCTTGAGAGAC -3'
(R):5'- GGCCTAAGCTCTGGGACTATATAC -3'

Sequencing Primer
(F):5'- CCTTGAGAGACCCAGGCGAAG -3'
(R):5'- TCTGTTGAGTAAAGCACGCC -3'
Posted On 2014-06-30