Incidental Mutation 'IGL01457:Prkd1'
ID 84807
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 # IGL01457
Quality Score
Status
Chromosome 12
Chromosomal Location 50388014-50695881 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 50439693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 378 (L378*)
Ref Sequence ENSEMBL: ENSMUSP00000002765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002765]
AlphaFold Q62101
Predicted Effect probably null
Transcript: ENSMUST00000002765
AA Change: L378*
SMART Domains Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: L378*

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,382,908 (GRCm39) Y1019F probably benign Het
4930455H04Rik T G 3: 116,762,200 (GRCm39) probably benign Het
9830107B12Rik A T 17: 48,439,193 (GRCm39) probably benign Het
Abcc8 A G 7: 45,784,917 (GRCm39) V737A possibly damaging Het
Adamts20 T A 15: 94,229,329 (GRCm39) Y930F probably damaging Het
Alkbh8 T A 9: 3,369,825 (GRCm39) F365I probably damaging Het
App G A 16: 84,900,127 (GRCm39) H108Y probably damaging Het
Bfsp1 T C 2: 143,669,564 (GRCm39) probably benign Het
Bltp3b T C 10: 89,641,624 (GRCm39) S932P probably benign Het
Cabin1 T C 10: 75,578,263 (GRCm39) N478S probably damaging Het
Camsap3 G A 8: 3,654,795 (GRCm39) V796I probably damaging Het
Carns1 A T 19: 4,216,498 (GRCm39) probably null Het
Ccdc121 A T 5: 31,644,771 (GRCm39) I175L probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cltc C T 11: 86,593,074 (GRCm39) M1600I probably benign Het
Cnot1 T A 8: 96,467,637 (GRCm39) N1499Y probably damaging Het
Crebbp T A 16: 3,942,632 (GRCm39) I196L probably damaging Het
Drc3 C A 11: 60,249,475 (GRCm39) probably benign Het
Fam161a T A 11: 22,970,702 (GRCm39) Y234* probably null Het
Il1r1 C A 1: 40,352,330 (GRCm39) P500Q probably damaging Het
Katnal1 G T 5: 148,830,607 (GRCm39) probably benign Het
Klhdc2 A G 12: 69,343,827 (GRCm39) N20S probably benign Het
Kmt2e A T 5: 23,707,017 (GRCm39) T1527S possibly damaging Het
Magi1 C T 6: 93,724,205 (GRCm39) G270D probably damaging Het
Mdn1 T A 4: 32,715,922 (GRCm39) S2035T possibly damaging Het
Mki67 A T 7: 135,301,275 (GRCm39) M1253K probably benign Het
Myh7 T C 14: 55,226,336 (GRCm39) M435V possibly damaging Het
Myh8 A G 11: 67,183,505 (GRCm39) I739V probably benign Het
Npnt T C 3: 132,591,743 (GRCm39) K430R probably damaging Het
Nrdc A G 4: 108,904,857 (GRCm39) N696S probably benign Het
Oit3 T C 10: 59,261,306 (GRCm39) probably benign Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or51s1 A G 7: 102,558,926 (GRCm39) I40T possibly damaging Het
Or5bw2 A G 7: 6,573,211 (GRCm39) T74A probably benign Het
Or5p6 A T 7: 107,631,328 (GRCm39) I74K possibly damaging Het
Pkd1 G A 17: 24,813,795 (GRCm39) probably null Het
Plat A G 8: 23,266,844 (GRCm39) M279V probably benign Het
Rasgef1a C T 6: 118,061,506 (GRCm39) T157I probably benign Het
Rbm22 A G 18: 60,693,929 (GRCm39) N11S probably damaging Het
Ros1 T C 10: 51,922,426 (GRCm39) probably benign Het
Sema6d T A 2: 124,495,562 (GRCm39) F3Y unknown Het
Sis T C 3: 72,868,354 (GRCm39) D112G probably benign Het
Slit1 C A 19: 41,599,483 (GRCm39) G1023C probably damaging Het
Spata31h1 C A 10: 82,120,568 (GRCm39) K4147N probably damaging Het
Sptb T C 12: 76,659,329 (GRCm39) probably benign Het
Sspo T C 6: 48,475,277 (GRCm39) I4881T probably benign Het
Supt6 C A 11: 78,111,969 (GRCm39) D1038Y probably damaging Het
Tbc1d2b A T 9: 90,087,144 (GRCm39) L945Q probably damaging Het
Tgfbr3 G T 5: 107,297,764 (GRCm39) A212E probably damaging Het
Tipin A G 9: 64,211,690 (GRCm39) T259A probably benign Het
Traip T C 9: 107,847,671 (GRCm39) S365P probably benign Het
Tst T C 15: 78,283,967 (GRCm39) T287A probably benign Het
Tube1 C T 10: 39,021,718 (GRCm39) probably benign Het
Vmn1r37 T A 6: 66,708,393 (GRCm39) N6K probably damaging Het
Vmn2r111 C A 17: 22,790,966 (GRCm39) E111* probably null Het
Vmn2r17 C T 5: 109,600,898 (GRCm39) T732I probably benign Het
Vmn2r69 A T 7: 85,055,836 (GRCm39) D767E 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
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
IGL02086:Prkd1 APN 12 50,434,046 (GRCm39) missense probably benign
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 2013-11-11