Incidental Mutation 'R4457:Cmtr2'
ID329954
Institutional Source Beutler Lab
Gene Symbol Cmtr2
Ensembl Gene ENSMUSG00000046441
Gene Namecap methyltransferase 2
SynonymsFtsjd1, C730036L12Rik
MMRRC Submission 041717-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4457 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location110215665-110224486 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110222252 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 398 (D398G)
Ref Sequence ENSEMBL: ENSMUSP00000060558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056972] [ENSMUST00000189685]
Predicted Effect probably benign
Transcript: ENSMUST00000056972
AA Change: D398G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000060558
Gene: ENSMUSG00000046441
AA Change: D398G

DomainStartEndE-ValueType
Pfam:FtsJ 110 320 1.7e-28 PFAM
low complexity region 550 559 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189685
Meta Mutation Damage Score 0.178 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik A G 16: 90,554,372 noncoding transcript Het
1700025G04Rik T C 1: 151,921,054 R87G probably damaging Het
9030619P08Rik T A 15: 75,431,400 noncoding transcript Het
Akap13 A G 7: 75,739,465 D2377G probably damaging Het
Arhgef5 T C 6: 43,274,093 S593P probably damaging Het
Atp4a G A 7: 30,720,225 R671Q probably benign Het
Cdkn2d C G 9: 21,290,889 V21L probably benign Het
Cfap73 T C 5: 120,630,150 K181R possibly damaging Het
Chn1 A G 2: 73,613,083 I383T probably damaging Het
Dnah12 T C 14: 26,815,507 Y2238H probably damaging Het
Dnah7c A G 1: 46,740,621 N3161S probably damaging Het
Dnah8 C A 17: 30,813,151 H4148Q probably benign Het
Ehbp1l1 T C 19: 5,716,293 S397G possibly damaging Het
Eya4 A T 10: 23,116,668 S462R probably damaging Het
Fam227b T A 2: 126,146,268 probably benign Het
Frrs1 G A 3: 116,896,728 V7I probably benign Het
Fsip2 G T 2: 82,990,776 A5618S possibly damaging Het
Gja10 A T 4: 32,601,073 M437K probably benign Het
Gm2840 T G 5: 96,174,328 noncoding transcript Het
Gm4956 A G 1: 21,298,095 noncoding transcript Het
Gria4 A G 9: 4,427,074 W789R probably damaging Het
Hoxb5 A G 11: 96,303,720 D36G probably damaging Het
Hps5 A T 7: 46,783,613 C228S probably benign Het
Hspa4 A T 11: 53,280,568 C270S probably damaging Het
Htra4 C A 8: 25,038,658 A73S possibly damaging Het
Ikzf2 T C 1: 69,684,188 probably benign Het
Ivl G A 3: 92,572,366 H131Y probably benign Het
Kat6a A G 8: 22,932,113 probably null Het
Lamp3 T A 16: 19,673,529 M322L probably benign Het
Letmd1 T C 15: 100,475,130 V37A possibly damaging Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Myh1 G A 11: 67,220,615 G1627R probably benign Het
Myo9b A G 8: 71,290,999 I235V probably damaging Het
Ndor1 A G 2: 25,248,116 probably null Het
Ndufa12 A T 10: 94,220,818 K136M probably damaging Het
Olfr1174-ps A G 2: 88,310,829 probably benign Het
Olfr1251 A T 2: 89,667,083 S268T probably benign Het
Olfr331 A G 11: 58,502,118 L146P probably damaging Het
Olfr577 C T 7: 102,973,527 S155N probably damaging Het
Pcdha2 A G 18: 36,940,546 D410G probably damaging Het
Pcyox1l T A 18: 61,697,868 N311I probably benign Het
Pif1 A G 9: 65,587,776 probably benign Het
Pkp1 CTCTTCTT CTCTT 1: 135,875,624 probably null Het
Pogz G A 3: 94,856,063 V49I probably benign Het
Rab36 G A 10: 75,044,496 V63I probably damaging Het
Rnf4 A G 5: 34,351,361 Y189C probably benign Het
Rpl31-ps17 C T 12: 54,701,612 noncoding transcript Het
Sgms2 A C 3: 131,325,016 Y273D probably damaging Het
Slc25a10 G A 11: 120,497,089 V203I probably benign Het
Slc4a2 T A 5: 24,434,330 probably benign Het
Tbc1d13 A G 2: 30,135,438 probably benign Het
Tdrd7 A G 4: 46,007,526 N526S probably benign Het
Tet2 C T 3: 133,485,563 D1037N possibly damaging Het
Thrb T A 14: 18,011,187 W188R probably damaging Het
Ttn T C 2: 76,946,913 M1382V probably benign Het
Usp9y T A Y: 1,394,078 I551L possibly damaging Het
Vwde T C 6: 13,196,101 I308M probably damaging Het
Zan T C 5: 137,411,516 I3488V unknown Het
Zgrf1 A T 3: 127,595,929 I375F probably damaging Het
Zic4 A G 9: 91,379,262 K183R probably damaging Het
Other mutations in Cmtr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Cmtr2 APN 8 110223100 missense probably benign 0.02
IGL01068:Cmtr2 APN 8 110222869 missense possibly damaging 0.65
IGL01286:Cmtr2 APN 8 110222852 missense possibly damaging 0.95
IGL01916:Cmtr2 APN 8 110221948 missense probably benign 0.01
IGL02302:Cmtr2 APN 8 110221504 missense probably damaging 1.00
IGL02426:Cmtr2 APN 8 110221690 missense possibly damaging 0.65
IGL02903:Cmtr2 APN 8 110222878 missense probably benign 0.02
PIT4362001:Cmtr2 UTSW 8 110222336 missense probably damaging 0.99
R1435:Cmtr2 UTSW 8 110221079 missense probably benign
R1501:Cmtr2 UTSW 8 110221603 missense probably benign 0.29
R1512:Cmtr2 UTSW 8 110222635 missense probably damaging 0.99
R1709:Cmtr2 UTSW 8 110221949 missense probably benign 0.31
R1715:Cmtr2 UTSW 8 110222798 missense probably damaging 1.00
R1953:Cmtr2 UTSW 8 110221919 missense probably damaging 1.00
R1960:Cmtr2 UTSW 8 110221750 missense probably damaging 1.00
R2422:Cmtr2 UTSW 8 110222781 missense probably benign 0.02
R3717:Cmtr2 UTSW 8 110221754 missense probably damaging 0.96
R4043:Cmtr2 UTSW 8 110221830 nonsense probably null
R4074:Cmtr2 UTSW 8 110221217 missense possibly damaging 0.83
R4179:Cmtr2 UTSW 8 110221037 splice site probably null
R4945:Cmtr2 UTSW 8 110221433 missense probably damaging 0.99
R5371:Cmtr2 UTSW 8 110221412 missense probably damaging 1.00
R6753:Cmtr2 UTSW 8 110222979 missense probably damaging 1.00
R7231:Cmtr2 UTSW 8 110222546 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GATGGTGTTGAACTTCGGCAC -3'
(R):5'- TCCTCTGCCCAACTATTGAAG -3'

Sequencing Primer
(F):5'- TTGAACTTCGGCACTGAGATGAC -3'
(R):5'- GGCTACTTTATCCTTCCATGAAAGGG -3'
Posted On2015-07-21