Incidental Mutation 'R7631:Polr2m'
ID 589648
Institutional Source Beutler Lab
Gene Symbol Polr2m
Ensembl Gene ENSMUSG00000032199
Gene Name polymerase (RNA) II (DNA directed) polypeptide M
Synonyms D9Wsu138e, Grinl1a
MMRRC Submission 045692-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R7631 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 71385719-71393217 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to C at 71390757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 148 (Y148*)
Ref Sequence ENSEMBL: ENSMUSP00000034720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034720] [ENSMUST00000163972] [ENSMUST00000163998] [ENSMUST00000164962] [ENSMUST00000165936] [ENSMUST00000166843] [ENSMUST00000169804]
AlphaFold Q6P6I6
Predicted Effect probably null
Transcript: ENSMUST00000034720
AA Change: Y148*
SMART Domains Protein: ENSMUSP00000034720
Gene: ENSMUSG00000032199
AA Change: Y148*

DomainStartEndE-ValueType
Pfam:GCOM2 28 239 2.1e-79 PFAM
coiled coil region 299 328 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163972
AA Change: Y44*
SMART Domains Protein: ENSMUSP00000132335
Gene: ENSMUSG00000032199
AA Change: Y44*

DomainStartEndE-ValueType
Pfam:GCOM2 1 142 1.6e-27 PFAM
coiled coil region 195 224 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163998
SMART Domains Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137

DomainStartEndE-ValueType
coiled coil region 105 138 N/A INTRINSIC
coiled coil region 187 415 N/A INTRINSIC
coiled coil region 483 512 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164962
SMART Domains Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137

DomainStartEndE-ValueType
Pfam:GCOM2 96 390 7.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165936
SMART Domains Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137

DomainStartEndE-ValueType
Pfam:GCOM2 96 379 4.2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166843
SMART Domains Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137

DomainStartEndE-ValueType
Pfam:GCOM2 96 416 4.6e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169804
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 87% (46/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 T A 6: 34,834,606 (GRCm39) L930H possibly damaging Het
Albfm1 T C 5: 90,727,531 (GRCm39) L383S probably damaging Het
Alcam C T 16: 52,109,276 (GRCm39) probably null Het
Ankrd31 A G 13: 97,015,462 (GRCm39) H1577R probably benign Het
Arfgef1 T C 1: 10,302,694 (GRCm39) N9S probably benign Het
Cpne9 T C 6: 113,279,079 (GRCm39) V491A possibly damaging Het
Cyb5d1 A T 11: 69,285,865 (GRCm39) L57Q possibly damaging Het
Cyp7a1 T A 4: 6,272,763 (GRCm39) Q150L possibly damaging Het
D430041D05Rik A C 2: 103,979,363 (GRCm39) Y1336* probably null Het
Dcaf7 T C 11: 105,944,579 (GRCm39) V254A probably benign Het
Dchs1 T C 7: 105,408,445 (GRCm39) T1796A probably benign Het
Defa27 T A 8: 21,805,657 (GRCm39) D32E probably benign Het
Eno2 T C 6: 124,744,019 (GRCm39) E96G probably benign Het
Fbxw19 T A 9: 109,311,069 (GRCm39) Y380F probably damaging Het
Fer1l4 A T 2: 155,890,195 (GRCm39) N243K probably damaging Het
Fndc7 G A 3: 108,776,568 (GRCm39) A491V probably damaging Het
Gm14305 A G 2: 176,410,790 (GRCm39) Q15R probably benign Het
Gpr155 T C 2: 73,213,291 (GRCm39) probably benign Het
Grm5 A G 7: 87,624,513 (GRCm39) H360R probably damaging Het
Ifi203 G A 1: 173,754,688 (GRCm39) T681I unknown Het
Klc2 A G 19: 5,158,647 (GRCm39) S616P probably benign Het
Lifr A G 15: 7,214,258 (GRCm39) Y704C probably damaging Het
Lingo4 A C 3: 94,306,767 (GRCm39) D15A possibly damaging Het
Lrrc74a A T 12: 86,795,884 (GRCm39) N286Y probably damaging Het
Mcm8 A G 2: 132,669,963 (GRCm39) T374A not run Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naa25 A G 5: 121,576,791 (GRCm39) T847A possibly damaging Het
Nrxn2 T A 19: 6,531,825 (GRCm39) M763K possibly damaging Het
Onecut2 T A 18: 64,474,046 (GRCm39) M180K possibly damaging Het
Or1p4-ps1 A C 11: 74,208,357 (GRCm39) T169P unknown Het
Or2r3 T A 6: 42,448,870 (GRCm39) M81L probably benign Het
Or5m11 A T 2: 85,782,218 (GRCm39) E270D probably benign Het
Or8c13 A T 9: 38,092,002 (GRCm39) V39E probably damaging Het
Otx1 G A 11: 21,949,458 (GRCm39) Q7* probably null Het
Pabpc4 T G 4: 123,182,763 (GRCm39) D133E probably damaging Het
Pcsk5 A T 19: 17,542,144 (GRCm39) C816S probably damaging Het
Pgm2 A G 5: 64,265,522 (GRCm39) T408A possibly damaging Het
Reln T C 5: 22,176,933 (GRCm39) N1911S probably damaging Het
Scaf4 T C 16: 90,026,445 (GRCm39) D1124G unknown Het
Scgb1b19 C T 7: 32,986,784 (GRCm39) T18I probably damaging Het
Septin12 T A 16: 4,814,320 (GRCm39) I50F probably damaging Het
Slc25a20 T A 9: 108,539,491 (GRCm39) M22K probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smchd1 A G 17: 71,705,684 (GRCm39) F972L probably benign Het
Spem1 T C 11: 69,712,409 (GRCm39) Y85C probably benign Het
Strip1 C T 3: 107,524,247 (GRCm39) V557I possibly damaging Het
Tcirg1 G T 19: 3,947,160 (GRCm39) Q634K probably damaging Het
Tma7 T A 9: 108,911,507 (GRCm39) probably benign Het
Tmem204 A G 17: 25,299,414 (GRCm39) L35P probably damaging Het
Trpc6 A G 9: 8,626,702 (GRCm39) T351A probably benign Het
Tubb2a A G 13: 34,259,227 (GRCm39) S188P probably damaging Het
Ubr5 C A 15: 38,029,751 (GRCm39) L485F Het
Vmn1r71 A T 7: 10,482,378 (GRCm39) S103R probably damaging Het
Vmn2r40 C T 7: 8,911,119 (GRCm39) D725N Het
Zfp473 T C 7: 44,383,128 (GRCm39) R402G possibly damaging Het
Zfp82 A T 7: 29,755,851 (GRCm39) S410R probably damaging Het
Other mutations in Polr2m
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02810:Polr2m APN 9 71,390,848 (GRCm39) missense probably benign 0.42
IGL02956:Polr2m APN 9 71,390,911 (GRCm39) missense possibly damaging 0.88
R1604:Polr2m UTSW 9 71,390,959 (GRCm39) missense probably damaging 1.00
R4828:Polr2m UTSW 9 71,391,050 (GRCm39) missense possibly damaging 0.65
R5748:Polr2m UTSW 9 71,390,918 (GRCm39) missense probably benign 0.02
R5990:Polr2m UTSW 9 71,386,602 (GRCm39) splice site probably null
R6042:Polr2m UTSW 9 71,391,080 (GRCm39) missense probably damaging 0.98
R6476:Polr2m UTSW 9 71,390,752 (GRCm39) missense probably benign 0.02
R6579:Polr2m UTSW 9 71,393,002 (GRCm39) missense probably damaging 1.00
R7150:Polr2m UTSW 9 71,390,815 (GRCm39) missense probably benign 0.00
R7150:Polr2m UTSW 9 71,390,626 (GRCm39) missense probably damaging 1.00
R8203:Polr2m UTSW 9 71,386,768 (GRCm39) missense probably benign 0.07
R8233:Polr2m UTSW 9 71,390,866 (GRCm39) missense probably benign
R9571:Polr2m UTSW 9 71,386,710 (GRCm39) missense possibly damaging 0.93
X0067:Polr2m UTSW 9 71,386,742 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTCTCACTCTGCAGTTCTGG -3'
(R):5'- AAGAGCTGACACCGATGTAG -3'

Sequencing Primer
(F):5'- ACTCTGCAGTTCTGGAAAGTTCTCAG -3'
(R):5'- TAGACAAGGCCCAGAGTTCTGAC -3'
Posted On 2019-10-24