Incidental Mutation 'R9235:Dmpk'
ID 700425
Institutional Source Beutler Lab
Gene Symbol Dmpk
Ensembl Gene ENSMUSG00000030409
Gene Name dystrophia myotonica-protein kinase
Synonyms Dm15, DM
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R9235 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 18817774-18827746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 18822141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 366 (N366K)
Ref Sequence ENSEMBL: ENSMUSP00000104113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032568] [ENSMUST00000108473] [ENSMUST00000108474] [ENSMUST00000122999] [ENSMUST00000154199]
AlphaFold P54265
Predicted Effect probably damaging
Transcript: ENSMUST00000032568
AA Change: N366K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032568
Gene: ENSMUSG00000030409
AA Change: N366K

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
S_TKc 71 339 6.5e-87 SMART
S_TK_X 340 407 3.6e-11 SMART
Pfam:DMPK_coil 472 532 2.8e-25 PFAM
low complexity region 590 613 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108473
AA Change: N366K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104113
Gene: ENSMUSG00000030409
AA Change: N366K

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
S_TKc 71 339 1.36e-84 SMART
S_TK_X 340 407 7.5e-9 SMART
Pfam:DMPK_coil 472 532 2.2e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108474
AA Change: N340K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104114
Gene: ENSMUSG00000030409
AA Change: N340K

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
S_TKc 71 336 2.57e-76 SMART
Pfam:DMPK_coil 446 506 2.4e-28 PFAM
low complexity region 564 587 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122999
SMART Domains Protein: ENSMUSP00000123516
Gene: ENSMUSG00000030409

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
PDB:2VD5|B 32 139 3e-62 PDB
SCOP:d1koba_ 44 139 3e-21 SMART
Blast:S_TKc 71 139 7e-36 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000154199
AA Change: N366K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118459
Gene: ENSMUSG00000030409
AA Change: N366K

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
S_TKc 71 339 1.36e-84 SMART
S_TK_X 340 402 5.3e-9 SMART
Pfam:DMPK_coil 467 527 2.3e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: The protein encoded by this gene is a serine/threonine protein kinase that contains coiled-coil and C-terminal membrane association domains. In the embryonic mouse, it is found in cardiac and skeletal myocytes where it appears to play a role in myogenesis. In adults, the transcript is localized to several tissues including brain, heart, and skeletal and smooth muscle, and a function in cytoskeletal remodeling has been described. Transcripts with expanded CUG repeats in the 3' untranslated region mediate alternative splicing of several genes and sequester RNA binding proteins and RNA transcripts that contain CAG repeats, resulting in myotonic dystrophy, an autosomal dominant neuromuscular disorder. Alternative splicing results in multiple protein coding and non-coding transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a null mutation exhibit abnormal sodium channel gating in cardiac myocytes, cardiac conduction defects, and late-onset progressive skeletal myopathy. Homozygotes for a second null mutation do not develop skeletal myopathy but do have abnormal muscle intracellular calcium levels. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,623,518 (GRCm39) I76N possibly damaging Het
4930558K02Rik T C 1: 161,780,172 (GRCm39) H114R possibly damaging Het
C2 T C 17: 35,083,845 (GRCm39) D414G probably damaging Het
Catsper4 C T 4: 133,954,606 (GRCm39) D15N probably benign Het
Ccnb2 A G 9: 70,318,163 (GRCm39) V203A probably damaging Het
Cd2 A G 3: 101,195,159 (GRCm39) F13L probably benign Het
Cwf19l1 G A 19: 44,113,275 (GRCm39) A227V probably damaging Het
Dis3l2 G A 1: 86,749,061 (GRCm39) D176N possibly damaging Het
Dnajb12 C T 10: 59,728,799 (GRCm39) T229I probably benign Het
Efcab3 A G 11: 104,907,987 (GRCm39) D4479G probably benign Het
Fat3 T A 9: 15,833,674 (GRCm39) E126V probably null Het
Fbxo27 T A 7: 28,397,756 (GRCm39) Y264* probably null Het
Fign A G 2: 63,810,907 (GRCm39) M121T probably damaging Het
Flt3 T C 5: 147,320,202 (GRCm39) Y54C possibly damaging Het
Frmd4a G A 2: 4,599,366 (GRCm39) R460H probably damaging Het
Igkv4-53 A T 6: 69,626,301 (GRCm39) I13N possibly damaging Het
Islr T A 9: 58,064,944 (GRCm39) I188F possibly damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Klra3 A T 6: 130,311,218 (GRCm39) C54* probably null Het
Klrb1b A G 6: 128,795,547 (GRCm39) F140S probably damaging Het
Kmt2c T C 5: 25,504,997 (GRCm39) E3437G probably damaging Het
Mdn1 C A 4: 32,739,122 (GRCm39) L3648I probably benign Het
Mlxipl C A 5: 135,157,541 (GRCm39) T359K possibly damaging Het
Morc3 T C 16: 93,659,321 (GRCm39) W410R probably damaging Het
Mrpl49 G A 19: 6,105,147 (GRCm39) R105* probably null Het
Myom3 T A 4: 135,541,653 (GRCm39) Y1415N probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nrap A T 19: 56,330,760 (GRCm39) Y1100* probably null Het
Or14a257 A T 7: 86,138,306 (GRCm39) V151E probably benign Het
Or5d43 A T 2: 88,104,724 (GRCm39) I223N probably damaging Het
Or5t5 T C 2: 86,616,548 (GRCm39) I158T probably benign Het
Or6c8b G T 10: 128,882,051 (GRCm39) Q294K probably benign Het
Pank1 C A 19: 34,856,197 (GRCm39) A94S probably benign Het
Pikfyve C A 1: 65,299,188 (GRCm39) T1613K probably benign Het
Plbd2 T A 5: 120,626,554 (GRCm39) I352L probably benign Het
Plec T C 15: 76,059,701 (GRCm39) D3412G probably damaging Het
Plekhd1 T A 12: 80,768,791 (GRCm39) Y425N possibly damaging Het
Plscr5 A G 9: 92,086,417 (GRCm39) N129S possibly damaging Het
Prkdc T A 16: 15,651,751 (GRCm39) M3796K probably damaging Het
Psme3 A T 11: 101,211,594 (GRCm39) E213D possibly damaging Het
Ptprn2 G A 12: 117,233,271 (GRCm39) probably null Het
Sema5a A G 15: 32,619,034 (GRCm39) S521G probably benign Het
Slc34a2 A T 5: 53,226,667 (GRCm39) M597L probably benign Het
Slc6a13 A G 6: 121,301,984 (GRCm39) R189G probably damaging Het
Smyd4 G A 11: 75,295,689 (GRCm39) E782K probably benign Het
Sspo T A 6: 48,466,718 (GRCm39) C4078S probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Ttc21a G T 9: 119,774,559 (GRCm39) R271L probably benign Het
Ubr5 A G 15: 38,045,982 (GRCm39) L114P Het
Ugt1a2 A G 1: 88,128,488 (GRCm39) R44G possibly damaging Het
Ulk4 G A 9: 120,981,217 (GRCm39) T907I probably benign Het
Unc13a G T 8: 72,115,912 (GRCm39) L97I probably benign Het
Uqcc6 A T 10: 82,458,586 (GRCm39) C22S possibly damaging Het
Vmn1r25 A G 6: 57,955,488 (GRCm39) L267P probably damaging Het
Vmn2r101 T A 17: 19,810,238 (GRCm39) N341K probably damaging Het
Wdr3 T A 3: 100,054,023 (GRCm39) Q534L probably benign Het
Zfp28 A T 7: 6,397,605 (GRCm39) H680L probably damaging Het
Zfp986 T A 4: 145,625,759 (GRCm39) F140I probably benign Het
Other mutations in Dmpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02198:Dmpk APN 7 18,822,117 (GRCm39) missense probably damaging 0.98
IGL02874:Dmpk APN 7 18,820,926 (GRCm39) missense possibly damaging 0.75
IGL02942:Dmpk APN 7 18,826,166 (GRCm39) missense probably damaging 0.99
IGL03081:Dmpk APN 7 18,821,458 (GRCm39) missense probably damaging 1.00
IGL03258:Dmpk APN 7 18,826,131 (GRCm39) critical splice acceptor site probably null
IGL03302:Dmpk APN 7 18,820,411 (GRCm39) splice site probably benign
P0008:Dmpk UTSW 7 18,821,987 (GRCm39) missense possibly damaging 0.89
R0388:Dmpk UTSW 7 18,818,002 (GRCm39) unclassified probably benign
R0961:Dmpk UTSW 7 18,821,195 (GRCm39) missense probably damaging 0.99
R3103:Dmpk UTSW 7 18,821,579 (GRCm39) missense probably damaging 1.00
R3157:Dmpk UTSW 7 18,826,944 (GRCm39) missense probably benign 0.00
R3158:Dmpk UTSW 7 18,826,944 (GRCm39) missense probably benign 0.00
R3159:Dmpk UTSW 7 18,826,944 (GRCm39) missense probably benign 0.00
R3498:Dmpk UTSW 7 18,820,306 (GRCm39) missense probably damaging 1.00
R4696:Dmpk UTSW 7 18,822,139 (GRCm39) missense probably damaging 1.00
R4830:Dmpk UTSW 7 18,821,453 (GRCm39) missense probably damaging 1.00
R4991:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5156:Dmpk UTSW 7 18,818,050 (GRCm39) missense probably damaging 1.00
R5169:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5170:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5171:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5172:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5198:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5200:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5202:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5205:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5383:Dmpk UTSW 7 18,821,944 (GRCm39) missense probably benign 0.05
R5449:Dmpk UTSW 7 18,824,916 (GRCm39) missense probably benign 0.18
R5639:Dmpk UTSW 7 18,826,525 (GRCm39) missense probably benign 0.22
R5874:Dmpk UTSW 7 18,826,007 (GRCm39) intron probably benign
R6939:Dmpk UTSW 7 18,822,149 (GRCm39) missense probably damaging 0.97
R7133:Dmpk UTSW 7 18,821,232 (GRCm39) missense probably damaging 1.00
R7352:Dmpk UTSW 7 18,819,997 (GRCm39) missense probably damaging 0.98
R8032:Dmpk UTSW 7 18,821,978 (GRCm39) missense possibly damaging 0.63
R8234:Dmpk UTSW 7 18,822,048 (GRCm39) missense probably benign 0.00
R8886:Dmpk UTSW 7 18,825,886 (GRCm39) unclassified probably benign
R9052:Dmpk UTSW 7 18,821,614 (GRCm39) missense probably damaging 0.99
R9420:Dmpk UTSW 7 18,824,946 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCTCAGGACCTCATTCGTG -3'
(R):5'- TCTAGGATAATAATTTGGGACCCAG -3'

Sequencing Primer
(F):5'- AGGACCTCATTCGTGGGCTG -3'
(R):5'- CTGACTGGCCTAGAAGTCACTATG -3'
Posted On 2022-02-07