Incidental Mutation 'IGL01457:Prkd1'
ID84807
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 #IGL01457
Quality Score
Status
Chromosome12
Chromosomal Location50341231-50649098 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 50392910 bp
ZygosityHeterozygous
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]
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: 32,660,951 Y1019F probably benign Het
4930455H04Rik T G 3: 116,968,551 probably benign Het
4930548H24Rik A T 5: 31,487,427 I175L probably benign Het
4932415D10Rik C A 10: 82,284,734 K4147N probably damaging Het
9830107B12Rik A T 17: 48,128,583 probably benign Het
Abcc8 A G 7: 46,135,493 V737A possibly damaging Het
Adamts20 T A 15: 94,331,448 Y930F probably damaging Het
Alkbh8 T A 9: 3,369,825 F365I probably damaging Het
App G A 16: 85,103,239 H108Y probably damaging Het
Bfsp1 T C 2: 143,827,644 probably benign Het
Cabin1 T C 10: 75,742,429 N478S probably damaging Het
Camsap3 G A 8: 3,604,795 V796I probably damaging Het
Carns1 A T 19: 4,166,499 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cltc C T 11: 86,702,248 M1600I probably benign Het
Cnot1 T A 8: 95,741,009 N1499Y probably damaging Het
Crebbp T A 16: 4,124,768 I196L probably damaging Het
Drc3 C A 11: 60,358,649 probably benign Het
Fam161a T A 11: 23,020,702 Y234* probably null Het
Il1r1 C A 1: 40,313,170 P500Q probably damaging Het
Katnal1 G T 5: 148,893,797 probably benign Het
Klhdc2 A G 12: 69,297,053 N20S probably benign Het
Kmt2e A T 5: 23,502,019 T1527S possibly damaging Het
Magi1 C T 6: 93,747,224 G270D probably damaging Het
Mdn1 T A 4: 32,715,922 S2035T possibly damaging Het
Mki67 A T 7: 135,699,546 M1253K probably benign Het
Myh7 T C 14: 54,988,879 M435V possibly damaging Het
Myh8 A G 11: 67,292,679 I739V probably benign Het
Npnt T C 3: 132,885,982 K430R probably damaging Het
Nrd1 A G 4: 109,047,660 N696S probably benign Het
Oit3 T C 10: 59,425,484 probably benign Het
Olfr1350 A G 7: 6,570,212 T74A probably benign Het
Olfr478 A T 7: 108,032,121 I74K possibly damaging Het
Olfr571 A G 7: 102,909,719 I40T possibly damaging Het
Olfr642 A G 7: 104,050,169 Y62H probably damaging Het
Pkd1 G A 17: 24,594,821 probably null Het
Plat A G 8: 22,776,828 M279V probably benign Het
Rasgef1a C T 6: 118,084,545 T157I probably benign Het
Rbm22 A G 18: 60,560,857 N11S probably damaging Het
Ros1 T C 10: 52,046,330 probably benign Het
Sema6d T A 2: 124,653,642 F3Y unknown Het
Sis T C 3: 72,961,021 D112G probably benign Het
Slit1 C A 19: 41,611,044 G1023C probably damaging Het
Sptb T C 12: 76,612,555 probably benign Het
Sspo T C 6: 48,498,343 I4881T probably benign Het
Supt6 C A 11: 78,221,143 D1038Y probably damaging Het
Tbc1d2b A T 9: 90,205,091 L945Q probably damaging Het
Tgfbr3 G T 5: 107,149,898 A212E probably damaging Het
Tipin A G 9: 64,304,408 T259A probably benign Het
Traip T C 9: 107,970,472 S365P probably benign Het
Tst T C 15: 78,399,767 T287A probably benign Het
Tube1 C T 10: 39,145,722 probably benign Het
Uhrf1bp1l T C 10: 89,805,762 S932P probably benign Het
Vmn1r37 T A 6: 66,731,409 N6K probably damaging Het
Vmn2r111 C A 17: 22,571,985 E111* probably null Het
Vmn2r17 C T 5: 109,453,032 T732I probably benign Het
Vmn2r69 A T 7: 85,406,628 D767E possibly damaging 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
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
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
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 On2013-11-11