Incidental Mutation 'R3795:Pkdcc'
ID 272743
Institutional Source Beutler Lab
Gene Symbol Pkdcc
Ensembl Gene ENSMUSG00000024247
Gene Name protein kinase domain containing, cytoplasmic
Synonyms MAd1, ESTM17, Vlk, Adtk1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3795 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 83522721-83532499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83531382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 464 (T464A)
Ref Sequence ENSEMBL: ENSMUSP00000129238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170794]
AlphaFold Q5RJI4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168118
Predicted Effect unknown
Transcript: ENSMUST00000170758
AA Change: T199A
Predicted Effect probably damaging
Transcript: ENSMUST00000170794
AA Change: T464A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247
AA Change: T464A

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 0.2454 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (32/33)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,212 (GRCm39) T10A probably benign Het
Adh1 T A 3: 137,985,526 (GRCm39) L18H possibly damaging Het
Bltp1 A G 3: 37,084,714 (GRCm39) T426A probably benign Het
Capn13 C A 17: 73,644,387 (GRCm39) V381L probably benign Het
Cfap54 T C 10: 92,778,735 (GRCm39) probably benign Het
Cmas T A 6: 142,713,594 (GRCm39) D206E probably benign Het
Cntnap1 A G 11: 101,077,590 (GRCm39) E1084G probably damaging Het
Cpz A G 5: 35,669,093 (GRCm39) V346A probably benign Het
Dhrs3 A G 4: 144,645,962 (GRCm39) D116G probably damaging Het
Efcab3 A G 11: 104,624,501 (GRCm39) E844G possibly damaging Het
Inpp4b T C 8: 82,759,845 (GRCm39) V445A probably damaging Het
Katnip A G 7: 125,419,261 (GRCm39) N476S probably benign Het
Lhx2 T C 2: 38,243,359 (GRCm39) C12R probably damaging Het
Map3k2 T C 18: 32,359,701 (GRCm39) M518T probably benign Het
Mrc1 T A 2: 14,293,793 (GRCm39) probably benign Het
Nlrp4e T A 7: 23,020,228 (GRCm39) D238E probably benign Het
Obscn A G 11: 58,922,667 (GRCm39) Y6543H probably damaging Het
Pigv A G 4: 133,392,502 (GRCm39) S223P possibly damaging Het
Polr2k A G 15: 36,175,193 (GRCm39) I18V probably damaging Het
Psg20 A G 7: 18,418,374 (GRCm39) V131A probably benign Het
Ptpro T C 6: 137,357,307 (GRCm39) F266S probably benign Het
S100a7l2 T C 3: 90,995,730 (GRCm39) I57M possibly damaging Het
Sdk2 G A 11: 113,747,522 (GRCm39) R663* probably null Het
Szt2 G T 4: 118,248,927 (GRCm39) L586I probably damaging Het
Tln2 T C 9: 67,163,197 (GRCm39) I1113V probably damaging Het
Ube2ql1 G T 13: 69,852,231 (GRCm39) A282E possibly damaging Het
Vmn2r50 T A 7: 9,771,851 (GRCm39) M617L probably benign Het
Wdfy3 A G 5: 102,085,466 (GRCm39) V676A probably damaging Het
Wdr47 T C 3: 108,532,053 (GRCm39) probably null Het
Zbp1 T C 2: 173,053,972 (GRCm39) H183R probably benign Het
Zfp352 C T 4: 90,113,386 (GRCm39) H509Y probably damaging Het
Zfp988 G A 4: 147,416,040 (GRCm39) R158Q possibly damaging Het
Other mutations in Pkdcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Pkdcc APN 17 83,527,548 (GRCm39) missense probably damaging 1.00
IGL02517:Pkdcc APN 17 83,531,295 (GRCm39) missense probably damaging 1.00
PIT4791001:Pkdcc UTSW 17 83,527,577 (GRCm39) nonsense probably null
R0180:Pkdcc UTSW 17 83,529,299 (GRCm39) critical splice donor site probably null
R0321:Pkdcc UTSW 17 83,529,541 (GRCm39) splice site probably benign
R0559:Pkdcc UTSW 17 83,523,454 (GRCm39) missense probably benign 0.00
R0799:Pkdcc UTSW 17 83,531,347 (GRCm39) missense probably damaging 1.00
R1512:Pkdcc UTSW 17 83,527,473 (GRCm39) missense possibly damaging 0.88
R2484:Pkdcc UTSW 17 83,529,667 (GRCm39) splice site probably benign
R2916:Pkdcc UTSW 17 83,523,378 (GRCm39) missense probably benign 0.00
R2918:Pkdcc UTSW 17 83,523,378 (GRCm39) missense probably benign 0.00
R3120:Pkdcc UTSW 17 83,527,466 (GRCm39) missense probably damaging 1.00
R3794:Pkdcc UTSW 17 83,531,382 (GRCm39) missense probably damaging 0.97
R4433:Pkdcc UTSW 17 83,528,570 (GRCm39) missense probably benign 0.02
R4689:Pkdcc UTSW 17 83,523,290 (GRCm39) missense probably damaging 1.00
R5239:Pkdcc UTSW 17 83,523,413 (GRCm39) missense probably damaging 1.00
R5580:Pkdcc UTSW 17 83,527,511 (GRCm39) missense probably damaging 0.96
R5654:Pkdcc UTSW 17 83,523,337 (GRCm39) missense probably damaging 1.00
R5739:Pkdcc UTSW 17 83,523,223 (GRCm39) missense probably benign 0.44
R6456:Pkdcc UTSW 17 83,527,548 (GRCm39) missense probably damaging 1.00
R7046:Pkdcc UTSW 17 83,531,687 (GRCm39) missense probably damaging 0.97
R7050:Pkdcc UTSW 17 83,523,073 (GRCm39) missense possibly damaging 0.46
R8557:Pkdcc UTSW 17 83,528,495 (GRCm39) missense probably benign 0.02
R8833:Pkdcc UTSW 17 83,531,355 (GRCm39) missense probably damaging 0.99
R9104:Pkdcc UTSW 17 83,528,471 (GRCm39) missense probably damaging 1.00
Z1088:Pkdcc UTSW 17 83,529,579 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCTTAGAGTACCAGCGCATC -3'
(R):5'- AAGACCAGCTTCCGACCTAG -3'

Sequencing Primer
(F):5'- ATCCCGGACAGTGCCATC -3'
(R):5'- TCTTCTTGGAGGTAAGACTACTTTC -3'
Posted On 2015-03-25