Incidental Mutation 'R6986:Polr2k'
ID 542997
Institutional Source Beutler Lab
Gene Symbol Polr2k
Ensembl Gene ENSMUSG00000045996
Gene Name polymerase (RNA) II (DNA directed) polypeptide K
Synonyms ABC10-alpha, MafY, RPB10alpha, RPB7.0, RPABC4, RPB12, Mt1a
MMRRC Submission 045093-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R6986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 36174156-36177156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36175181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 14 (P14T)
Ref Sequence ENSEMBL: ENSMUSP00000136975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047348] [ENSMUST00000057177] [ENSMUST00000171205] [ENSMUST00000180159] [ENSMUST00000227623]
AlphaFold Q63871
Predicted Effect probably benign
Transcript: ENSMUST00000047348
SMART Domains Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617

DomainStartEndE-ValueType
TPR 213 246 1.88e0 SMART
TPR 247 279 3.47e-4 SMART
TPR 280 313 8.23e-6 SMART
low complexity region 383 400 N/A INTRINSIC
TPR 430 463 5.92e1 SMART
TPR 472 505 2.49e-5 SMART
TPR 506 539 5.31e0 SMART
TPR 606 639 7.63e-1 SMART
TPR 640 673 1.38e-7 SMART
Pfam:RPAP3_C 777 869 1.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057177
AA Change: P55T

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000051968
Gene: ENSMUSG00000045996
AA Change: P55T

DomainStartEndE-ValueType
RPOLCX 56 99 6.19e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171205
SMART Domains Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617

DomainStartEndE-ValueType
TPR 213 246 1.88e0 SMART
TPR 247 279 3.47e-4 SMART
TPR 280 313 8.23e-6 SMART
low complexity region 383 400 N/A INTRINSIC
TPR 430 463 5.92e1 SMART
TPR 472 505 2.49e-5 SMART
TPR 506 539 5.31e0 SMART
TPR 606 639 7.63e-1 SMART
TPR 640 673 1.38e-7 SMART
Pfam:RPAP3_C 777 869 1.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180159
AA Change: P14T

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136975
Gene: ENSMUSG00000045996
AA Change: P14T

DomainStartEndE-ValueType
RPOLCX 15 58 6.19e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000227623
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 T C 16: 4,129,441 (GRCm39) N482D probably damaging Het
Agbl3 A G 6: 34,816,387 (GRCm39) K766E probably benign Het
Aldh3a1 T A 11: 61,105,077 (GRCm39) I154N probably damaging Het
Cdca2 C T 14: 67,932,446 (GRCm39) V486I probably benign Het
Celf3 G C 3: 94,395,024 (GRCm39) A313P possibly damaging Het
Cgrrf1 T C 14: 47,069,586 (GRCm39) probably benign Het
Chd7 T A 4: 8,859,285 (GRCm39) N2458K possibly damaging Het
Chrna5 T A 9: 54,913,741 (GRCm39) M429K possibly damaging Het
Cux2 A T 5: 122,006,642 (GRCm39) L876Q possibly damaging Het
Cyb5rl T A 4: 106,928,073 (GRCm39) S3T probably benign Het
Ehd4 A T 2: 119,927,571 (GRCm39) M321K probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Endod1 T C 9: 14,268,606 (GRCm39) E293G probably damaging Het
Fat3 G A 9: 15,932,631 (GRCm39) T1434I probably damaging Het
Flrt2 T A 12: 95,747,459 (GRCm39) I599N probably damaging Het
Gm6370 T A 5: 146,430,398 (GRCm39) probably null Het
Gm7247 T C 14: 51,602,832 (GRCm39) M56T possibly damaging Het
H3c8 A G 13: 23,719,603 (GRCm39) probably benign Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Ints8 T C 4: 11,204,474 (GRCm39) Y994C probably damaging Het
Irf1 A G 11: 53,664,966 (GRCm39) T165A probably damaging Het
Lgr6 G T 1: 134,921,694 (GRCm39) Q217K possibly damaging Het
Lrrc36 T C 8: 106,185,079 (GRCm39) S619P probably damaging Het
Morn4 T C 19: 42,066,453 (GRCm39) N45D possibly damaging Het
Mtarc2 T C 1: 184,573,460 (GRCm39) H53R probably benign Het
Mtmr3 T C 11: 4,439,692 (GRCm39) T583A probably damaging Het
Ncdn A G 4: 126,641,022 (GRCm39) Y493H probably damaging Het
Nckap1 T A 2: 80,350,911 (GRCm39) Y726F probably benign Het
Optc T A 1: 133,825,702 (GRCm39) M275L probably benign Het
Or2w25 A G 11: 59,504,924 (GRCm39) K378R possibly damaging Het
Or6c69c G A 10: 129,911,199 (GRCm39) V307M possibly damaging Het
Perm1 A T 4: 156,302,976 (GRCm39) K507* probably null Het
Pgbd5 C T 8: 125,111,212 (GRCm39) E160K possibly damaging Het
Ppp2r3d A T 9: 124,439,080 (GRCm38) Y112* probably null Het
Pramel14 T A 4: 143,719,888 (GRCm39) D159V probably damaging Het
Rnase9 T C 14: 51,276,537 (GRCm39) N147S probably benign Het
Rnls C T 19: 33,359,781 (GRCm39) G11D probably damaging Het
Sbf2 T C 7: 109,929,822 (GRCm39) T333A probably damaging Het
Scn3a A T 2: 65,338,962 (GRCm39) N572K probably damaging Het
Serinc3 A G 2: 163,469,891 (GRCm39) L319P probably benign Het
Setbp1 T C 18: 78,901,054 (GRCm39) D871G probably damaging Het
Sf3b2 T C 19: 5,329,923 (GRCm39) T661A probably benign Het
Sgsm2 T A 11: 74,782,867 (GRCm39) R30W probably damaging Het
Sh3tc1 A G 5: 35,881,288 (GRCm39) S52P probably benign Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Snrpa A T 7: 26,892,389 (GRCm39) M57K probably damaging Het
Spata31f3 A G 4: 42,868,696 (GRCm39) V309A possibly damaging Het
Srbd1 A T 17: 86,292,650 (GRCm39) I973N probably damaging Het
Srp72 T A 5: 77,142,723 (GRCm39) S428T probably benign Het
Ss18l2 A G 9: 121,541,671 (GRCm39) Y50C probably damaging Het
St14 A G 9: 31,007,845 (GRCm39) L578P probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Tmc1 T C 19: 20,801,647 (GRCm39) N460D probably benign Het
Tnni3k C T 3: 154,667,501 (GRCm39) G280R probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trpc3 A G 3: 36,709,165 (GRCm39) probably null Het
Tshr C T 12: 91,500,731 (GRCm39) A152V probably damaging Het
Tuft1 G A 3: 94,521,461 (GRCm39) P358S probably damaging Het
Vmn2r120 A T 17: 57,816,340 (GRCm39) S672T probably damaging Het
Vmn2r83 G T 10: 79,316,093 (GRCm39) E496D probably benign Het
Vmn2r91 A G 17: 18,356,271 (GRCm39) N646S probably benign Het
Zfp9 A G 6: 118,441,426 (GRCm39) V412A possibly damaging Het
Zmynd8 G T 2: 165,675,335 (GRCm39) H273N probably damaging Het
Other mutations in Polr2k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03128:Polr2k APN 15 36,174,337 (GRCm39) missense probably damaging 0.98
R0415:Polr2k UTSW 15 36,175,602 (GRCm39) missense probably damaging 1.00
R3794:Polr2k UTSW 15 36,175,193 (GRCm39) missense probably damaging 0.97
R3795:Polr2k UTSW 15 36,175,193 (GRCm39) missense probably damaging 0.97
R5213:Polr2k UTSW 15 36,175,143 (GRCm39) start codon destroyed probably null 0.82
R8733:Polr2k UTSW 15 36,176,913 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TTATTCTTAAGACCCAGCCCAC -3'
(R):5'- AGGCAGTACACCTTTTCCAG -3'

Sequencing Primer
(F):5'- TCTGCATGCTAGGCAAACATTC -3'
(R):5'- GGCAGTACACCTTTTCCAGATAAAAG -3'
Posted On 2018-11-28