Incidental Mutation 'R0457:Prkd1'
ID 41240
Institutional Source Beutler Lab
Gene Symbol Prkd1
Ensembl Gene ENSMUSG00000002688
Gene Name protein kinase D1
Synonyms PKD1, Prkcm, Pkcm
MMRRC Submission 038657-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0457 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 50388014-50695881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50413155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 672 (M672K)
Ref Sequence ENSEMBL: ENSMUSP00000002765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002765]
AlphaFold Q62101
Predicted Effect probably damaging
Transcript: ENSMUST00000002765
AA Change: M672K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: M672K

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,844,054 (GRCm39) I249M possibly damaging Het
Adcy5 T C 16: 35,094,915 (GRCm39) S691P probably benign Het
Ajm1 G T 2: 25,468,358 (GRCm39) R518S possibly damaging Het
Aspscr1 A G 11: 120,568,444 (GRCm39) E12G probably benign Het
Atp2a2 T C 5: 122,607,777 (GRCm39) Q244R probably benign Het
Birc6 A G 17: 74,959,023 (GRCm39) M3818V probably benign Het
Birc6 C T 17: 74,969,620 (GRCm39) A4230V probably damaging Het
Bub1b T C 2: 118,440,340 (GRCm39) F148S probably damaging Het
C1ra T C 6: 124,499,712 (GRCm39) S633P probably benign Het
Cacna2d1 A G 5: 16,472,414 (GRCm39) T274A probably damaging Het
Cmya5 A G 13: 93,232,095 (GRCm39) W998R possibly damaging Het
Crbn T C 6: 106,758,018 (GRCm39) K404R probably benign Het
Cryga T C 1: 65,142,204 (GRCm39) Y63C probably damaging Het
Csmd1 C A 8: 16,551,407 (GRCm39) probably null Het
Defa-ps1 A T 8: 22,185,758 (GRCm39) noncoding transcript Het
Dnajc10 T A 2: 80,175,290 (GRCm39) V559D possibly damaging Het
Dock1 A T 7: 134,739,874 (GRCm39) E1423D possibly damaging Het
Dpf3 A T 12: 83,319,179 (GRCm39) S44T probably damaging Het
Dyrk3 A T 1: 131,064,094 (GRCm39) V31D possibly damaging Het
F5 T C 1: 164,021,769 (GRCm39) S1415P probably benign Het
Fam186b A C 15: 99,169,166 (GRCm39) I927S probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fer1l6 G A 15: 58,509,943 (GRCm39) probably null Het
Fndc7 G T 3: 108,783,861 (GRCm39) S249R probably benign Het
Ganab A G 19: 8,884,614 (GRCm39) E139G possibly damaging Het
Gbp5 A G 3: 142,213,518 (GRCm39) D478G probably damaging Het
Gm17324 T A 9: 78,355,580 (GRCm39) M1K probably null Het
Gtpbp6 T A 5: 110,254,608 (GRCm39) R126S probably damaging Het
Hapln4 G A 8: 70,541,122 (GRCm39) W385* probably null Het
Hmcn2 T A 2: 31,305,296 (GRCm39) probably null Het
Hsp90ab1 A G 17: 45,879,914 (GRCm39) V534A probably damaging Het
Kat6b C A 14: 21,720,598 (GRCm39) T1650K probably damaging Het
Kpna1 T A 16: 35,823,275 (GRCm39) D42E probably benign Het
Lrrc14b A G 13: 74,509,279 (GRCm39) M376T probably benign Het
Lrrc40 A G 3: 157,760,201 (GRCm39) probably null Het
Ltv1 T C 10: 13,067,887 (GRCm39) T34A probably benign Het
Mga T A 2: 119,746,969 (GRCm39) N373K probably damaging Het
Msh3 A T 13: 92,357,505 (GRCm39) M101K probably damaging Het
Mthfd2l T C 5: 91,168,065 (GRCm39) M320T possibly damaging Het
Mug1 G A 6: 121,838,514 (GRCm39) E506K probably benign Het
Ngb T C 12: 87,147,503 (GRCm39) D54G probably damaging Het
Ntrk1 A G 3: 87,699,014 (GRCm39) F84L probably benign Het
Or1j18 A T 2: 36,624,545 (GRCm39) I71F probably benign Het
Or52n2b T A 7: 104,566,180 (GRCm39) T108S probably benign Het
Phf12 T A 11: 77,908,994 (GRCm39) I358N possibly damaging Het
Plec A G 15: 76,061,801 (GRCm39) F2577S probably damaging Het
Polr1c T A 17: 46,558,689 (GRCm39) Y36F probably benign Het
Prob1 T C 18: 35,785,539 (GRCm39) Y905C probably damaging Het
Ptpn23 T A 9: 110,215,361 (GRCm39) H1433L possibly damaging Het
Rnf11 A T 4: 109,314,149 (GRCm39) L80Q probably damaging Het
Sbp G A 17: 24,164,286 (GRCm39) G183D probably benign Het
Scgb2b7 A T 7: 31,403,437 (GRCm39) C90S possibly damaging Het
Slc4a9 T C 18: 36,668,471 (GRCm39) L710P probably damaging Het
Spire1 T A 18: 67,685,670 (GRCm39) I35F probably damaging Het
Sptbn2 T C 19: 4,795,966 (GRCm39) V1715A possibly damaging Het
St7 T C 6: 17,819,281 (GRCm39) F62L probably damaging Het
Svep1 C T 4: 58,118,136 (GRCm39) G862D probably damaging Het
Syne1 A T 10: 4,972,041 (GRCm39) M8789K probably damaging Het
Synpo2 A G 3: 122,906,421 (GRCm39) L965P probably damaging Het
Trhde A T 10: 114,284,167 (GRCm39) M772K probably benign Het
Ttn T A 2: 76,608,851 (GRCm39) K15976* probably null Het
Unc13a A C 8: 72,110,645 (GRCm39) probably null Het
Vcan T C 13: 89,851,318 (GRCm39) E1214G possibly damaging Het
Vmn1r29 T C 6: 58,285,072 (GRCm39) V264A probably benign Het
Vmn1r60 T A 7: 5,548,118 (GRCm39) probably benign Het
Wdr90 C T 17: 26,079,459 (GRCm39) R225H probably benign Het
Wnk1 G A 6: 119,946,293 (GRCm39) T620I probably damaging Het
Zan C T 5: 137,405,968 (GRCm39) probably benign Het
Zfp37 A T 4: 62,109,902 (GRCm39) C387* probably null Het
Zfp521 T C 18: 13,977,897 (GRCm39) T839A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTATGCTGGACTCCGCATGAC -3'
(R):5'- GCAGATCCTGCTTGAGATGTCCC -3'

Sequencing Primer
(F):5'- AGATGATATACTTCACCCTTGCAGTC -3'
(R):5'- GCAATTCACCATGCTAGAACTTAG -3'
Posted On 2013-05-23