Incidental Mutation 'IGL01536:Pik3cd'
ID 89967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3cd
Ensembl Gene ENSMUSG00000039936
Gene Name phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
Synonyms 2610208K16Rik, 2410099E07Rik, p110delta
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL01536
Quality Score
Status
Chromosome 4
Chromosomal Location 149733625-149787023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149737123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 891 (V891A)
Ref Sequence ENSEMBL: ENSMUSP00000136045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038859] [ENSMUST00000039144] [ENSMUST00000105688] [ENSMUST00000105689] [ENSMUST00000105690] [ENSMUST00000105691] [ENSMUST00000118704] [ENSMUST00000122059] [ENSMUST00000177654]
AlphaFold O35904
Predicted Effect probably damaging
Transcript: ENSMUST00000038859
AA Change: V889A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: V889A

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 probably damaging
Transcript: ENSMUST00000105688
AA Change: V888A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: V888A

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: V887A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: V887A

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: V891A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: V891A

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: ENSMUST00000118704
AA Change: V890A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: V890A

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 probably damaging
Transcript: ENSMUST00000122059
AA Change: V884A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: V884A

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: ENSMUST00000177654
AA Change: V891A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: V891A

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 noncoding transcript
Transcript: ENSMUST00000185093
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5f1a T C 18: 77,868,012 (GRCm39) probably benign Het
Ccnc A G 4: 21,732,505 (GRCm39) I81V probably benign Het
Cep112 A G 11: 108,422,237 (GRCm39) D560G probably null Het
Dis3 A G 14: 99,316,859 (GRCm39) Y826H probably damaging Het
Dtx2 A G 5: 136,038,940 (GRCm39) probably benign Het
Enpp4 T C 17: 44,410,494 (GRCm39) K361E possibly damaging Het
Erap1 A T 13: 74,810,542 (GRCm39) K294* probably null Het
Erbb4 T A 1: 68,329,441 (GRCm39) Y636F probably benign Het
Fads1 C A 19: 10,171,394 (GRCm39) Q342K probably benign Het
Fntb A T 12: 76,966,904 (GRCm39) T447S probably benign Het
Hdac4 A G 1: 91,857,868 (GRCm39) probably benign Het
Kcnh2 A G 5: 24,531,522 (GRCm39) I463T probably damaging Het
Kif13a G T 13: 46,905,765 (GRCm39) T726K probably damaging Het
Lcmt1 T C 7: 123,021,966 (GRCm39) S275P possibly damaging Het
Lmnb1 T C 18: 56,873,868 (GRCm39) S425P probably benign Het
Lrp1b T C 2: 41,000,895 (GRCm39) I2224V probably benign Het
Lrrc45 A T 11: 120,606,410 (GRCm39) T173S probably benign Het
Muc4 T C 16: 32,584,340 (GRCm39) Y2590H possibly damaging Het
Myo18a C T 11: 77,711,677 (GRCm39) P676L probably damaging Het
Or5m10 T C 2: 85,717,944 (GRCm39) S267P probably damaging Het
Pcdhb15 T C 18: 37,608,046 (GRCm39) M426T probably benign Het
Polr1b A G 2: 128,967,475 (GRCm39) N956S probably benign Het
Ppil3 T C 1: 58,483,750 (GRCm39) M1V probably null Het
Rad1 T A 15: 10,493,286 (GRCm39) S238T possibly damaging Het
Shc3 A C 13: 51,670,595 (GRCm39) S51A probably damaging Het
Slc9c1 T C 16: 45,409,992 (GRCm39) probably null Het
Smg5 A G 3: 88,256,552 (GRCm39) K273E possibly damaging Het
Sntg1 C T 1: 8,653,424 (GRCm39) probably null Het
Sstr4 T C 2: 148,237,800 (GRCm39) L137P probably damaging Het
Taar8b C T 10: 23,967,493 (GRCm39) V234I probably benign Het
Tbc1d9 A G 8: 83,987,621 (GRCm39) Y860C probably damaging Het
Tll1 A T 8: 64,527,323 (GRCm39) S399R probably damaging Het
Tns1 T C 1: 73,958,807 (GRCm39) probably benign Het
Trim10 T A 17: 37,188,180 (GRCm39) probably null Het
Ttn C T 2: 76,562,695 (GRCm39) probably null Het
Usp43 T C 11: 67,746,764 (GRCm39) D981G probably benign Het
Vmn2r108 A T 17: 20,683,543 (GRCm39) C554S probably damaging Het
Vmn2r112 T A 17: 22,824,136 (GRCm39) Y464N probably damaging Het
Vmn2r31 T C 7: 7,387,847 (GRCm39) K575E probably damaging Het
Vmn2r50 C T 7: 9,771,610 (GRCm39) C697Y probably damaging Het
Zcchc8 A C 5: 123,858,782 (GRCm39) probably null Het
Other mutations in Pik3cd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Pik3cd APN 4 149,741,917 (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
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
Posted On 2013-12-03