Incidental Mutation 'R4689:Pkdcc'
ID386459
Institutional Source Beutler Lab
Gene Symbol Pkdcc
Ensembl Gene ENSMUSG00000024247
Gene Nameprotein kinase domain containing, cytoplasmic
SynonymsMAd1, Vlk, Adtk1, ESTM17
MMRRC Submission 041940-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4689 (G1)
Quality Score25
Status Validated
Chromosome17
Chromosomal Location83215292-83225070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 83215861 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tryptophan at position 132 (C132W)
Ref Sequence ENSEMBL: ENSMUSP00000129238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170794]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166528
Predicted Effect probably benign
Transcript: ENSMUST00000170758
Predicted Effect probably damaging
Transcript: ENSMUST00000170794
AA Change: C132W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247
AA Change: C132W

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 28 55 N/A INTRINSIC
low complexity region 72 86 N/A INTRINSIC
low complexity region 92 128 N/A INTRINSIC
Pfam:Pkinase 139 321 1.3e-5 PFAM
Pfam:PIP49_C 196 373 3.8e-11 PFAM
Meta Mutation Damage Score 0.3040 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (72/74)
MGI Phenotype PHENOTYPE: Homozygous null mutants die on postnatal day P0, apparently due to ineffective respiration. They exhibit shortening of all the long bones of the fore- and hindlimbs, cleft palate, sternal dysraphia and deficient mineralization or other anomalies of multiple bones throughout the body. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,324,070 V336L probably benign Het
Acbd4 T C 11: 103,105,368 L165P possibly damaging Het
Adam10 T C 9: 70,765,954 S456P possibly damaging Het
Adgre4 T C 17: 55,802,096 F368L probably damaging Het
Ahcyl1 G T 3: 107,665,518 Y528* probably null Het
Aldh3b3 G A 19: 3,964,516 V84M probably damaging Het
Cdca8 C T 4: 124,931,103 G78E probably damaging Het
Cry2 T C 2: 92,424,554 D152G probably benign Het
Cyp2c67 T C 19: 39,638,588 Y266C probably benign Het
Dkk4 T C 8: 22,625,320 F62S probably benign Het
Dnah12 G A 14: 26,706,839 V207I probably benign Het
Dthd1 T C 5: 62,842,912 C526R probably damaging Het
Dubr A T 16: 50,732,503 noncoding transcript Het
F5 T C 1: 164,151,973 probably benign Het
Flcn A C 11: 59,801,044 W260G possibly damaging Het
Fmnl1 G A 11: 103,193,736 probably null Het
Frem2 A T 3: 53,547,635 D2173E probably benign Het
Fstl4 C T 11: 53,068,650 Q173* probably null Het
Gfra3 G A 18: 34,690,587 P381S unknown Het
Gm28308 C A 6: 52,213,311 probably benign Het
Gm8394 T A 10: 85,314,201 noncoding transcript Het
Gm8730 T A 8: 102,865,747 noncoding transcript Het
Gzmd T C 14: 56,131,226 probably null Het
Hexb A G 13: 97,181,092 Y366H probably damaging Het
Hydin A T 8: 110,595,414 H4566L probably benign Het
Ifi213 G A 1: 173,590,420 T142I possibly damaging Het
Kif13b T A 14: 64,773,064 C1271S probably damaging Het
Krtap9-5 G T 11: 99,949,460 C329F unknown Het
Larp1 G T 11: 58,041,613 G207W probably damaging Het
Lfng A G 5: 140,614,439 D368G probably damaging Het
Mbd5 G A 2: 49,258,279 V834I possibly damaging Het
Mterf1b T A 5: 4,197,263 Y301* probably null Het
Myh7b T C 2: 155,630,514 I1305T possibly damaging Het
Myo16 T C 8: 10,438,890 V687A probably damaging Het
Naip2 A T 13: 100,148,812 I1292N probably damaging Het
Nmral1 A G 16: 4,714,558 F130L probably damaging Het
Nos1 A G 5: 117,879,385 N271S probably benign Het
Nrap A G 19: 56,386,026 S23P probably damaging Het
Olfr106-ps A T 17: 37,394,771 N77I probably damaging Het
Olfr1509 T C 14: 52,451,214 I267T probably benign Het
Olfr169 A T 16: 19,566,513 Y123* probably null Het
Olfr800 T C 10: 129,660,316 V170A probably benign Het
Plekhg6 G A 6: 125,373,181 L265F probably benign Het
Prkaa1 A G 15: 5,178,696 T473A probably benign Het
Prpf3 G A 3: 95,836,489 Q451* probably null Het
Ptprh T A 7: 4,597,997 D127V possibly damaging Het
Rab36 T C 10: 75,041,933 probably null Het
Rasa1 A T 13: 85,238,163 Y427* probably null Het
Rgs11 T C 17: 26,204,547 probably null Het
Serpinb13 C T 1: 106,982,844 S66L probably damaging Het
Shank2 G A 7: 144,420,605 V1087I probably benign Het
Slc39a10 A C 1: 46,836,013 M43R probably benign Het
Slc40a1 T A 1: 45,912,313 Q228L probably benign Het
Slc45a1 A T 4: 150,638,539 L296Q probably benign Het
Stambpl1 A G 19: 34,236,291 T307A probably benign Het
Stt3a T C 9: 36,732,929 T705A possibly damaging Het
Tec G A 5: 72,823,637 probably benign Het
Trp63 A T 16: 25,865,262 T300S possibly damaging Het
Vmn1r235 A G 17: 21,262,361 H316R probably benign Het
Vmn2r1 A G 3: 64,104,653 H645R possibly damaging Het
Wdfy4 A G 14: 33,109,548 I907T possibly damaging Het
Zcchc10 A G 11: 53,327,324 T33A probably benign Het
Zfp318 T A 17: 46,399,634 V761D probably damaging Het
Zfp358 T C 8: 3,496,146 probably null Het
Zfp661 G A 2: 127,577,548 P224L probably damaging Het
Zfp937 T C 2: 150,236,786 M33T probably damaging Het
Zfp955a T C 17: 33,242,066 H364R probably damaging Het
Other mutations in Pkdcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Pkdcc APN 17 83220119 missense probably damaging 1.00
IGL02517:Pkdcc APN 17 83223866 missense probably damaging 1.00
PIT4791001:Pkdcc UTSW 17 83220148 nonsense probably null
R0180:Pkdcc UTSW 17 83221870 critical splice donor site probably null
R0321:Pkdcc UTSW 17 83222112 splice site probably benign
R0559:Pkdcc UTSW 17 83216025 missense probably benign 0.00
R0799:Pkdcc UTSW 17 83223918 missense probably damaging 1.00
R1512:Pkdcc UTSW 17 83220044 missense possibly damaging 0.88
R2484:Pkdcc UTSW 17 83222238 splice site probably benign
R2916:Pkdcc UTSW 17 83215949 missense probably benign 0.00
R2918:Pkdcc UTSW 17 83215949 missense probably benign 0.00
R3120:Pkdcc UTSW 17 83220037 missense probably damaging 1.00
R3794:Pkdcc UTSW 17 83223953 missense probably damaging 0.97
R3795:Pkdcc UTSW 17 83223953 missense probably damaging 0.97
R4433:Pkdcc UTSW 17 83221141 missense probably benign 0.02
R5239:Pkdcc UTSW 17 83215984 missense probably damaging 1.00
R5580:Pkdcc UTSW 17 83220082 missense probably damaging 0.96
R5654:Pkdcc UTSW 17 83215908 missense probably damaging 1.00
R5739:Pkdcc UTSW 17 83215794 missense probably benign 0.44
R6456:Pkdcc UTSW 17 83220119 missense probably damaging 1.00
R7046:Pkdcc UTSW 17 83224258 missense probably damaging 0.97
R7050:Pkdcc UTSW 17 83215644 missense possibly damaging 0.46
Z1088:Pkdcc UTSW 17 83222150 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAGGAGGTGCAGCGCTATTC -3'
(R):5'- CACCATCTCTTTGAGCAGCTTG -3'

Sequencing Primer
(F):5'- CCTGATGGACCTGGCTc -3'
(R):5'- TGAGCAGCTTGTGGGCC -3'
Posted On2016-06-03