Incidental Mutation 'R7346:Prkd1'
ID 570215
Institutional Source Beutler Lab
Gene Symbol Prkd1
Ensembl Gene ENSMUSG00000002688
Gene Name protein kinase D1
Synonyms PKD1, Prkcm, Pkcm
MMRRC Submission 045373-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7346 (G1)
Quality Score 170.009
Status Validated
Chromosome 12
Chromosomal Location 50388014-50695881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50695617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 47 (I47N)
Ref Sequence ENSEMBL: ENSMUSP00000002765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002765]
AlphaFold Q62101
Predicted Effect possibly damaging
Transcript: ENSMUST00000002765
AA Change: I47N

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: I47N

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.1%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,914,587 (GRCm39) P52S unknown Het
Adarb2 A G 13: 8,620,420 (GRCm39) E302G probably damaging Het
Adgrf5 T A 17: 43,762,070 (GRCm39) L1255H probably damaging Het
Adra1a T A 14: 66,875,733 (GRCm39) I236N probably benign Het
As3mt T C 19: 46,708,891 (GRCm39) F295S probably damaging Het
Bmp5 G A 9: 75,780,642 (GRCm39) R313Q probably damaging Het
Ccnj T A 19: 40,833,394 (GRCm39) S191T probably benign Het
Clk2 T A 3: 89,080,852 (GRCm39) probably null Het
Cpz T C 5: 35,675,000 (GRCm39) E83G probably damaging Het
Cts3 A G 13: 61,715,434 (GRCm39) I133T probably benign Het
Dars2 C T 1: 160,874,342 (GRCm39) probably null Het
Dsel A T 1: 111,788,798 (GRCm39) V579D probably damaging Het
Dync1h1 C A 12: 110,602,076 (GRCm39) A2038E probably damaging Het
Eaf1 A G 14: 31,216,777 (GRCm39) probably benign Het
Fsip2 A C 2: 82,828,524 (GRCm39) I6774L probably benign Het
Glis2 T C 16: 4,431,432 (GRCm39) F320L possibly damaging Het
Hcar1 A G 5: 124,017,693 (GRCm39) probably benign Het
Hectd1 A T 12: 51,797,104 (GRCm39) H2211Q probably benign Het
Hmcn1 A G 1: 150,559,496 (GRCm39) I2385T probably damaging Het
Ifi44 T A 3: 151,438,094 (GRCm39) M398L probably benign Het
Il16 C T 7: 83,293,249 (GRCm39) E1273K probably damaging Het
Inpp5j G A 11: 3,451,065 (GRCm39) T528I probably damaging Het
Kbtbd6 C T 14: 79,690,627 (GRCm39) P441S probably damaging Het
Kcnt1 C T 2: 25,753,855 (GRCm39) probably benign Het
Kif26b T C 1: 178,358,306 (GRCm39) L139P probably damaging Het
Klb C T 5: 65,505,974 (GRCm39) Q74* probably null Het
L3mbtl1 G A 2: 162,808,926 (GRCm39) V600I probably benign Het
Lcp1 C T 14: 75,447,946 (GRCm39) A317V possibly damaging Het
Lipc C T 9: 70,720,029 (GRCm39) G326D probably damaging Het
Mbnl2 T A 14: 120,616,694 (GRCm39) F103I probably benign Het
Mdm1 G T 10: 118,000,193 (GRCm39) E609* probably null Het
Med16 A G 10: 79,744,650 (GRCm39) probably null Het
Mga T C 2: 119,766,008 (GRCm39) V1424A possibly damaging Het
Mocs2 G T 13: 114,964,710 (GRCm39) probably null Het
Morc1 C T 16: 48,451,263 (GRCm39) probably null Het
Mpc2 T A 1: 165,307,080 (GRCm39) W94R probably damaging Het
Mrm3 G A 11: 76,141,002 (GRCm39) V337I possibly damaging Het
N4bp3 T C 11: 51,536,433 (GRCm39) H133R probably benign Het
Ncam2 G T 16: 81,420,256 (GRCm39) G810V probably damaging Het
Nipbl T C 15: 8,373,090 (GRCm39) E1052G possibly damaging Het
Nlrp12 C T 7: 3,297,887 (GRCm39) V95M probably damaging Het
Nrip1 T C 16: 76,090,244 (GRCm39) N438D possibly damaging Het
Nsun4 C A 4: 115,909,035 (GRCm39) M508I probably benign Het
Pla2g2c T C 4: 138,461,650 (GRCm39) S40P probably damaging Het
Plec A G 15: 76,082,178 (GRCm39) probably null Het
Ppfia2 G T 10: 106,693,356 (GRCm39) M620I possibly damaging Het
Ppp6c A G 2: 39,116,229 (GRCm39) Y9H probably damaging Het
Prr14l T C 5: 32,988,028 (GRCm39) D489G probably benign Het
Ptch2 T A 4: 116,971,849 (GRCm39) Y1124N probably benign Het
Ptpra T G 2: 130,395,320 (GRCm39) Y808D probably damaging Het
Rint1 T A 5: 24,020,651 (GRCm39) F558Y possibly damaging Het
Rnf215 T A 11: 4,089,792 (GRCm39) C268* probably null Het
Slc25a13 T C 6: 6,181,100 (GRCm39) E28G possibly damaging Het
Slc38a8 G T 8: 120,226,554 (GRCm39) Y78* probably null Het
Slc4a7 T C 14: 14,775,000 (GRCm38) M810T probably damaging Het
Slitrk1 A G 14: 109,150,591 (GRCm39) V40A possibly damaging Het
Sobp A T 10: 42,898,831 (GRCm39) S251R probably damaging Het
Spata31d1a G A 13: 59,851,015 (GRCm39) S371L probably benign Het
Tada2b T C 5: 36,634,180 (GRCm39) T133A possibly damaging Het
Tbc1d20 A G 2: 152,146,881 (GRCm39) D90G probably benign Het
Tek T A 4: 94,715,533 (GRCm39) I408K probably benign Het
Tgfb2 A G 1: 186,382,077 (GRCm39) F150S probably benign Het
Tmem63b T C 17: 45,977,517 (GRCm39) T370A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tspan17 C G 13: 54,940,434 (GRCm39) L34V probably benign Het
Vmn1r238 A T 18: 3,123,151 (GRCm39) Y88N probably damaging Het
Vmn1r85 A G 7: 12,818,964 (GRCm39) I60T probably damaging Het
Vmn2r96 T C 17: 18,803,029 (GRCm39) M313T probably benign Het
Zp3r G A 1: 130,511,217 (GRCm39) S387F 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
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
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'- TCCTTGAACTGTCATCGCAAG -3'
(R):5'- CCCGGAAAGTTTGGTGGTTC -3'

Sequencing Primer
(F):5'- GGCTAGGGCATGCAGTC -3'
(R):5'- AAAGTTTGGTGGTTCTTCTCCGC -3'
Posted On 2019-09-13