Incidental Mutation 'IGL02086:Prkd1'
ID 285478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkd1
Ensembl Gene ENSMUSG00000002688
Gene Name protein kinase D1
Synonyms PKD1, Prkcm, Pkcm
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02086
Quality Score
Status
Chromosome 12
Chromosomal Location 50388014-50695881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50434046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 566 (I566V)
Ref Sequence ENSEMBL: ENSMUSP00000002765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002765]
AlphaFold Q62101
Predicted Effect probably benign
Transcript: ENSMUST00000002765
AA Change: I566V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: I566V

DomainStartEndE-ValueType
low complexity region 2 46 N/A INTRINSIC
C1 138 194 1.36e-12 SMART
C1 277 326 5.95e-18 SMART
PH 429 549 5.33e-9 SMART
S_TKc 589 845 1.24e-92 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial embryonic lethality. Mice homozygous for a knock-in allele display partial embryonic and perinatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Prkd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Prkd1 APN 12 50,430,264 (GRCm39) missense probably damaging 1.00
IGL00727:Prkd1 APN 12 50,411,444 (GRCm39) missense probably damaging 1.00
IGL00772:Prkd1 APN 12 50,430,199 (GRCm39) missense probably damaging 0.99
IGL01092:Prkd1 APN 12 50,430,298 (GRCm39) splice site probably benign
IGL01457:Prkd1 APN 12 50,439,693 (GRCm39) nonsense probably null
IGL01538:Prkd1 APN 12 50,388,925 (GRCm39) missense probably benign
IGL01762:Prkd1 APN 12 50,434,013 (GRCm39) missense probably benign 0.00
IGL01876:Prkd1 APN 12 50,413,131 (GRCm39) missense probably damaging 1.00
IGL01973:Prkd1 APN 12 50,413,162 (GRCm39) missense probably damaging 1.00
IGL02293:Prkd1 APN 12 50,536,761 (GRCm39) missense probably damaging 0.97
IGL02454:Prkd1 APN 12 50,411,456 (GRCm39) missense probably benign 0.09
IGL03309:Prkd1 APN 12 50,435,207 (GRCm39) missense probably damaging 1.00
R0349:Prkd1 UTSW 12 50,413,139 (GRCm39) missense probably damaging 1.00
R0457:Prkd1 UTSW 12 50,413,155 (GRCm39) missense probably damaging 0.99
R0627:Prkd1 UTSW 12 50,536,824 (GRCm39) missense probably benign 0.00
R0899:Prkd1 UTSW 12 50,431,976 (GRCm39) missense probably damaging 0.98
R1219:Prkd1 UTSW 12 50,435,125 (GRCm39) missense probably damaging 1.00
R1495:Prkd1 UTSW 12 50,413,135 (GRCm39) missense probably damaging 1.00
R1584:Prkd1 UTSW 12 50,472,298 (GRCm39) missense probably damaging 1.00
R1665:Prkd1 UTSW 12 50,441,709 (GRCm39) missense probably damaging 1.00
R1666:Prkd1 UTSW 12 50,441,709 (GRCm39) missense probably damaging 1.00
R1668:Prkd1 UTSW 12 50,441,709 (GRCm39) missense probably damaging 1.00
R1669:Prkd1 UTSW 12 50,441,709 (GRCm39) missense probably damaging 1.00
R1735:Prkd1 UTSW 12 50,388,822 (GRCm39) missense possibly damaging 0.79
R1939:Prkd1 UTSW 12 50,441,777 (GRCm39) missense probably benign 0.00
R2143:Prkd1 UTSW 12 50,536,694 (GRCm39) missense possibly damaging 0.77
R2145:Prkd1 UTSW 12 50,536,694 (GRCm39) missense possibly damaging 0.77
R3404:Prkd1 UTSW 12 50,695,687 (GRCm39) missense unknown
R3801:Prkd1 UTSW 12 50,430,205 (GRCm39) missense possibly damaging 0.89
R3818:Prkd1 UTSW 12 50,466,667 (GRCm39) splice site probably benign
R3906:Prkd1 UTSW 12 50,435,209 (GRCm39) missense possibly damaging 0.91
R3966:Prkd1 UTSW 12 50,439,724 (GRCm39) missense probably benign 0.44
R4179:Prkd1 UTSW 12 50,413,231 (GRCm39) missense probably damaging 1.00
R4510:Prkd1 UTSW 12 50,439,762 (GRCm39) missense possibly damaging 0.81
R4511:Prkd1 UTSW 12 50,439,762 (GRCm39) missense possibly damaging 0.81
R4663:Prkd1 UTSW 12 50,466,631 (GRCm39) splice site probably null
R4896:Prkd1 UTSW 12 50,436,745 (GRCm39) missense probably damaging 1.00
R5070:Prkd1 UTSW 12 50,441,405 (GRCm39) nonsense probably null
R5263:Prkd1 UTSW 12 50,435,089 (GRCm39) missense probably damaging 1.00
R5389:Prkd1 UTSW 12 50,389,920 (GRCm39) missense probably damaging 1.00
R5395:Prkd1 UTSW 12 50,438,215 (GRCm39) missense probably damaging 1.00
R5855:Prkd1 UTSW 12 50,439,699 (GRCm39) missense probably benign 0.03
R5967:Prkd1 UTSW 12 50,411,333 (GRCm39) missense probably damaging 0.99
R5973:Prkd1 UTSW 12 50,435,038 (GRCm39) missense probably damaging 0.99
R6052:Prkd1 UTSW 12 50,413,083 (GRCm39) critical splice donor site probably null
R6063:Prkd1 UTSW 12 50,388,826 (GRCm39) missense probably benign 0.02
R6309:Prkd1 UTSW 12 50,441,443 (GRCm39) nonsense probably null
R6518:Prkd1 UTSW 12 50,472,278 (GRCm39) missense probably benign 0.08
R6868:Prkd1 UTSW 12 50,472,320 (GRCm39) missense probably damaging 1.00
R7256:Prkd1 UTSW 12 50,435,125 (GRCm39) missense possibly damaging 0.88
R7346:Prkd1 UTSW 12 50,695,617 (GRCm39) missense possibly damaging 0.86
R7815:Prkd1 UTSW 12 50,472,300 (GRCm39) missense probably damaging 1.00
R8290:Prkd1 UTSW 12 50,388,799 (GRCm39) missense probably damaging 1.00
R8397:Prkd1 UTSW 12 50,439,675 (GRCm39) missense probably benign
R8671:Prkd1 UTSW 12 50,435,191 (GRCm39) missense probably benign 0.00
R8805:Prkd1 UTSW 12 50,435,156 (GRCm39) missense probably damaging 0.99
R8805:Prkd1 UTSW 12 50,435,155 (GRCm39) missense probably benign 0.45
R8839:Prkd1 UTSW 12 50,389,616 (GRCm39) intron probably benign
R9005:Prkd1 UTSW 12 50,430,185 (GRCm39) nonsense probably null
R9273:Prkd1 UTSW 12 50,472,232 (GRCm39) missense possibly damaging 0.94
R9281:Prkd1 UTSW 12 50,536,758 (GRCm39) missense probably benign 0.31
R9480:Prkd1 UTSW 12 50,435,283 (GRCm39) missense probably benign 0.19
R9497:Prkd1 UTSW 12 50,438,107 (GRCm39) critical splice donor site probably null
X0024:Prkd1 UTSW 12 50,536,757 (GRCm39) missense probably benign 0.31
X0062:Prkd1 UTSW 12 50,441,705 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16