Incidental Mutation 'IGL02454:Prkd1'
ID293759
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 #IGL02454
Quality Score
Status
Chromosome12
Chromosomal Location50341231-50649098 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50364673 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 764 (K764R)
Ref Sequence ENSEMBL: ENSMUSP00000002765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002765]
Predicted Effect probably benign
Transcript: ENSMUST00000002765
AA Change: K764R

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: K764R

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik T A 16: 38,827,947 T267S probably benign Het
Amz2 T G 11: 109,434,061 probably benign Het
Atp13a5 A G 16: 29,232,808 F1104S probably benign Het
Cacna1c T C 6: 118,602,180 N1610S probably damaging Het
Ccnl1 A T 3: 65,956,897 D122E probably damaging Het
Crtc2 G A 3: 90,259,167 G65S probably benign Het
Dnah17 T C 11: 118,080,767 T2160A probably damaging Het
Fads3 T G 19: 10,055,119 L278R probably damaging Het
Foxp4 A T 17: 47,875,582 L424* probably null Het
Gm10392 A T 11: 77,518,390 E310V probably damaging Het
Gm11554 T A 11: 99,803,989 S133C unknown Het
Hacd2 T A 16: 35,106,391 F253L probably benign Het
Il3ra T C 14: 14,351,113 S212P probably benign Het
Mdn1 T C 4: 32,694,674 probably null Het
Mtfr1l A T 4: 134,530,385 L111H probably damaging Het
Mysm1 A G 4: 94,970,504 probably benign Het
Olfr418 C A 1: 173,270,940 S255Y probably damaging Het
Olfr646 T C 7: 104,106,612 V111A probably damaging Het
Plec A T 15: 76,191,031 F357I probably damaging Het
Polr3a C A 14: 24,475,823 V450L possibly damaging Het
Pxn C T 5: 115,552,266 P256S probably damaging Het
Rbm25 T A 12: 83,660,322 F247L probably benign Het
Rfx4 C T 10: 84,840,106 T62M possibly damaging Het
Rps4l-ps T C 7: 114,927,264 noncoding transcript Het
Scn11a A G 9: 119,758,544 I1378T probably benign Het
Siglecg T C 7: 43,408,895 S69P probably benign Het
Stox1 T C 10: 62,667,826 Y61C probably damaging Het
Tnks C T 8: 34,831,728 probably benign Het
Tpr A G 1: 150,431,192 S1587G probably benign Het
Trappc6b A G 12: 59,043,647 *97Q probably null Het
Usf3 T C 16: 44,217,182 V675A probably damaging Het
Wdr7 C T 18: 63,796,228 T1045M probably benign Het
Zc3h11a A T 1: 133,624,516 C618S probably benign Het
Zfp398 T C 6: 47,840,367 V47A possibly damaging Het
Zzz3 A G 3: 152,428,574 N423S 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
IGL01973:Prkd1 APN 12 50366379 missense probably damaging 1.00
IGL02086:Prkd1 APN 12 50387263 missense probably benign
IGL02293:Prkd1 APN 12 50489978 missense probably damaging 0.97
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
R7256:Prkd1 UTSW 12 50388342 missense possibly damaging 0.88
R7346:Prkd1 UTSW 12 50648834 missense possibly damaging 0.86
R7815:Prkd1 UTSW 12 50425517 missense probably damaging 1.00
R8290:Prkd1 UTSW 12 50342016 missense probably damaging 1.00
R8397:Prkd1 UTSW 12 50392892 missense probably benign
X0024:Prkd1 UTSW 12 50489974 missense probably benign 0.31
X0062:Prkd1 UTSW 12 50394922 missense probably damaging 1.00
Posted On2015-04-16