Incidental Mutation 'IGL01973:Prkd1'
ID182573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkd1
Ensembl Gene ENSMUSG00000002688
Gene Nameprotein kinase D1
SynonymsPrkcm, Pkcm, PKD1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01973
Quality Score
Status
Chromosome12
Chromosomal Location50341231-50649098 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 50366379 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 670 (G670R)
Ref Sequence ENSEMBL: ENSMUSP00000002765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002765]
Predicted Effect probably damaging
Transcript: ENSMUST00000002765
AA Change: G670R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: G670R

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
2410004P03Rik A G 12: 17,011,171 W59R probably damaging Het
Adam17 C T 12: 21,349,943 R154K probably damaging Het
Atp9b A T 18: 80,758,303 F791I probably benign Het
Atr T G 9: 95,871,674 S776R probably damaging Het
AW554918 A T 18: 25,419,999 T487S probably damaging Het
Bckdhb T A 9: 83,991,736 F217Y probably benign Het
Cacna1i G A 15: 80,382,033 A1574T probably damaging Het
Ccdc150 G A 1: 54,300,488 probably null Het
Clca4c-ps A T 3: 144,879,832 noncoding transcript Het
Clec4a1 T C 6: 122,930,721 S123P probably damaging Het
Col6a4 T C 9: 106,062,894 Y1279C probably damaging Het
Cox8c T A 12: 102,899,367 M1K probably null Het
Crat G T 2: 30,405,481 S370Y probably damaging Het
Cts7 A T 13: 61,355,600 D183E probably benign Het
Cyp1a2 C A 9: 57,682,395 W45C probably damaging Het
Eml5 T A 12: 98,863,280 I492L probably benign Het
Fbxl4 T G 4: 22,422,766 L456R probably damaging Het
Flt1 G T 5: 147,683,889 H148Q probably benign Het
Galnt3 T C 2: 66,084,262 M604V probably benign Het
Gatb T C 3: 85,611,424 V279A probably damaging Het
Gm6904 A G 14: 59,251,129 V73A probably benign Het
Gm996 G T 2: 25,579,572 S109* probably null Het
Heatr1 C A 13: 12,429,799 H1543Q probably benign Het
Ighg2b C T 12: 113,307,685 V83I unknown Het
Jcad A G 18: 4,675,514 Q1092R probably benign Het
Kirrel3 A G 9: 35,016,468 E6G probably damaging Het
Klhl22 A G 16: 17,792,711 S609G probably benign Het
Kntc1 A G 5: 123,765,958 Y346C probably damaging Het
Maneal T C 4: 124,859,155 D233G probably benign Het
Mcm3ap T C 10: 76,471,117 S355P probably benign Het
Mettl11b A G 1: 163,717,120 I98T probably benign Het
Mtus2 C T 5: 148,303,476 probably benign Het
Muc4 A G 16: 32,754,265 T1380A probably benign Het
Nedd4 T A 9: 72,736,934 M661K possibly damaging Het
Nomo1 T C 7: 46,083,227 probably benign Het
Ntsr2 T A 12: 16,656,774 W268R probably benign Het
Nup188 A C 2: 30,339,850 Q1360P possibly damaging Het
Olfr15 A T 16: 3,839,777 Q268L probably damaging Het
Olfr231 A G 1: 174,117,533 F161S probably damaging Het
Pabpc1 A T 15: 36,599,275 V392E probably benign Het
Pcdhb11 C A 18: 37,423,512 R632S probably damaging Het
Pnpla6 T A 8: 3,517,619 M87K probably damaging Het
Raf1 G A 6: 115,676,569 probably benign Het
Rapgef2 T A 3: 79,091,809 probably null Het
Rnf215 A T 11: 4,136,615 H164L probably damaging Het
Slc24a3 T C 2: 145,245,027 V19A probably benign Het
Tbc1d16 A T 11: 119,156,707 V396E probably benign Het
Tecpr1 T C 5: 144,197,988 probably benign Het
Thap12 T A 7: 98,716,499 Y625N possibly damaging Het
Tshz2 A T 2: 169,884,683 M400L probably damaging Het
Ttc28 A G 5: 111,224,235 Y850C possibly damaging Het
Ugt1a7c A G 1: 88,095,134 D5G probably benign Het
Vmn2r10 C T 5: 108,995,677 M802I probably damaging Het
Washc4 T C 10: 83,556,109 Y220H probably damaging Het
Zfhx3 T A 8: 108,947,193 M1625K probably damaging Het
Zfp677 T A 17: 21,396,907 N75K probably damaging Het
Zzz3 T C 3: 152,428,370 V355A probably benign Het
Other mutations in Prkd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Prkd1 APN 12 50383481 missense probably damaging 1.00
IGL00727:Prkd1 APN 12 50364661 missense probably damaging 1.00
IGL00772:Prkd1 APN 12 50383416 missense probably damaging 0.99
IGL01092:Prkd1 APN 12 50383515 splice site probably benign
IGL01457:Prkd1 APN 12 50392910 nonsense probably null
IGL01538:Prkd1 APN 12 50342142 missense probably benign
IGL01762:Prkd1 APN 12 50387230 missense probably benign 0.00
IGL01876:Prkd1 APN 12 50366348 missense probably damaging 1.00
IGL02086:Prkd1 APN 12 50387263 missense probably benign
IGL02293:Prkd1 APN 12 50489978 missense probably damaging 0.97
IGL02454:Prkd1 APN 12 50364673 missense probably benign 0.09
IGL03309:Prkd1 APN 12 50388424 missense probably damaging 1.00
R0349:Prkd1 UTSW 12 50366356 missense probably damaging 1.00
R0457:Prkd1 UTSW 12 50366372 missense probably damaging 0.99
R0627:Prkd1 UTSW 12 50490041 missense probably benign 0.00
R0899:Prkd1 UTSW 12 50385193 missense probably damaging 0.98
R1219:Prkd1 UTSW 12 50388342 missense probably damaging 1.00
R1495:Prkd1 UTSW 12 50366352 missense probably damaging 1.00
R1584:Prkd1 UTSW 12 50425515 missense probably damaging 1.00
R1665:Prkd1 UTSW 12 50394926 missense probably damaging 1.00
R1666:Prkd1 UTSW 12 50394926 missense probably damaging 1.00
R1668:Prkd1 UTSW 12 50394926 missense probably damaging 1.00
R1669:Prkd1 UTSW 12 50394926 missense probably damaging 1.00
R1735:Prkd1 UTSW 12 50342039 missense possibly damaging 0.79
R1939:Prkd1 UTSW 12 50394994 missense probably benign 0.00
R2143:Prkd1 UTSW 12 50489911 missense possibly damaging 0.77
R2145:Prkd1 UTSW 12 50489911 missense possibly damaging 0.77
R3404:Prkd1 UTSW 12 50648904 missense unknown
R3801:Prkd1 UTSW 12 50383422 missense possibly damaging 0.89
R3818:Prkd1 UTSW 12 50419884 splice site probably benign
R3906:Prkd1 UTSW 12 50388426 missense possibly damaging 0.91
R3966:Prkd1 UTSW 12 50392941 missense probably benign 0.44
R4179:Prkd1 UTSW 12 50366448 missense probably damaging 1.00
R4510:Prkd1 UTSW 12 50392979 missense possibly damaging 0.81
R4511:Prkd1 UTSW 12 50392979 missense possibly damaging 0.81
R4663:Prkd1 UTSW 12 50419848 splice site probably null
R4896:Prkd1 UTSW 12 50389962 missense probably damaging 1.00
R5070:Prkd1 UTSW 12 50394622 nonsense probably null
R5263:Prkd1 UTSW 12 50388306 missense probably damaging 1.00
R5389:Prkd1 UTSW 12 50343137 missense probably damaging 1.00
R5395:Prkd1 UTSW 12 50391432 missense probably damaging 1.00
R5855:Prkd1 UTSW 12 50392916 missense probably benign 0.03
R5967:Prkd1 UTSW 12 50364550 missense probably damaging 0.99
R5973:Prkd1 UTSW 12 50388255 missense probably damaging 0.99
R6052:Prkd1 UTSW 12 50366300 critical splice donor site probably null
R6063:Prkd1 UTSW 12 50342043 missense probably benign 0.02
R6309:Prkd1 UTSW 12 50394660 nonsense probably null
R6518:Prkd1 UTSW 12 50425495 missense probably benign 0.08
R6868:Prkd1 UTSW 12 50425537 missense probably damaging 1.00
X0024:Prkd1 UTSW 12 50489974 missense probably benign 0.31
X0062:Prkd1 UTSW 12 50394922 missense probably damaging 1.00
Posted On2014-05-07