Incidental Mutation 'R5114:Carnmt1'
ID 394134
Institutional Source Beutler Lab
Gene Symbol Carnmt1
Ensembl Gene ENSMUSG00000024726
Gene Name carnosine N-methyltransferase 1
Synonyms 2410127L17Rik
MMRRC Submission 042702-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R5114 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 18648128-18684564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18655098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 84 (S84P)
Ref Sequence ENSEMBL: ENSMUSP00000025632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025632]
AlphaFold Q80UY1
Predicted Effect probably damaging
Transcript: ENSMUST00000025632
AA Change: S84P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025632
Gene: ENSMUSG00000024726
AA Change: S84P

DomainStartEndE-ValueType
low complexity region 28 46 N/A INTRINSIC
N2227 135 400 2.56e-169 SMART
Meta Mutation Damage Score 0.2300 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (93/94)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T A 9: 120,406,693 (GRCm39) probably benign Het
Ada G A 2: 163,572,406 (GRCm39) R225C probably benign Het
Adamts9 T C 6: 92,867,254 (GRCm39) K625R probably benign Het
Ano1 T C 7: 144,210,820 (GRCm39) I182V possibly damaging Het
Aoc1l2 A T 6: 48,908,292 (GRCm39) M431L probably benign Het
Aox4 T C 1: 58,285,445 (GRCm39) V643A possibly damaging Het
Arcn1 T C 9: 44,671,441 (GRCm39) I29V probably benign Het
Arhgap15 A G 2: 43,670,630 (GRCm39) T5A probably benign Het
Asb10 A T 5: 24,745,740 (GRCm39) L62Q probably damaging Het
Atp23 T A 10: 126,723,403 (GRCm39) H233L possibly damaging Het
Bglap2 C T 3: 88,289,432 (GRCm39) probably benign Het
Ccdc152 A G 15: 3,312,319 (GRCm39) I180T probably damaging Het
Cdr2l T C 11: 115,284,186 (GRCm39) F174S probably damaging Het
Celsr2 C T 3: 108,301,312 (GRCm39) V2695I probably benign Het
Chd1 C A 17: 15,948,460 (GRCm39) S127R probably benign Het
Chmp4c T A 3: 10,450,646 (GRCm39) F75L probably benign Het
Col13a1 A C 10: 61,725,880 (GRCm39) V260G possibly damaging Het
Col5a1 A G 2: 27,915,664 (GRCm39) N183D probably damaging Het
Cpn1 C T 19: 43,974,634 (GRCm39) V32M probably damaging Het
Cxcl1 A G 5: 91,039,373 (GRCm39) M39V probably benign Het
Dpep2 T A 8: 106,712,825 (GRCm39) D455V probably damaging Het
Dpp7 G A 2: 25,242,749 (GRCm39) T441I possibly damaging Het
Dst C A 1: 34,241,640 (GRCm39) H4001N probably damaging Het
Epg5 G A 18: 78,038,828 (GRCm39) A1519T probably benign Het
Esrp2 C T 8: 106,858,820 (GRCm39) V606I probably benign Het
Fbxo40 T C 16: 36,789,236 (GRCm39) K625E probably damaging Het
Gbp2b A T 3: 142,303,946 (GRCm39) I14F probably damaging Het
Gpr37l1 G T 1: 135,094,676 (GRCm39) F189L probably damaging Het
Heatr5a G A 12: 52,003,020 (GRCm39) Q161* probably null Het
Hspa4l T C 3: 40,700,197 (GRCm39) Y30H possibly damaging Het
Hspg2 G A 4: 137,239,237 (GRCm39) C388Y probably damaging Het
Kcna1 A G 6: 126,619,330 (GRCm39) I330T probably damaging Het
Klhl3 T A 13: 58,166,781 (GRCm39) Y350F probably benign Het
Kntc1 T C 5: 123,919,118 (GRCm39) probably null Het
Krtap10-4 A T 10: 77,662,520 (GRCm39) C109* probably null Het
Lrch4 T C 5: 137,636,179 (GRCm39) S377P probably benign Het
Lrrc8c C A 5: 105,755,349 (GRCm39) H375N probably damaging Het
Lsg1 T C 16: 30,380,538 (GRCm39) E633G probably damaging Het
Mcoln1 T C 8: 3,560,697 (GRCm39) probably benign Het
Med12l C A 3: 59,167,109 (GRCm39) T1523K possibly damaging Het
Mrps27 A T 13: 99,547,973 (GRCm39) probably benign Het
Mzb1 T A 18: 35,780,717 (GRCm39) Y158F probably benign Het
Nat8l T A 5: 34,155,823 (GRCm39) C160S probably damaging Het
Ncf4 T C 15: 78,146,593 (GRCm39) probably benign Het
Or1b1 A T 2: 36,994,814 (GRCm39) Y283N probably damaging Het
Or1o3 T C 17: 37,573,730 (GRCm39) Y275C probably damaging Het
Pak2 T A 16: 31,861,936 (GRCm39) probably benign Het
Pcdhga12 T C 18: 37,901,160 (GRCm39) I664T probably benign Het
Pcnx2 A C 8: 126,564,749 (GRCm39) L1048R possibly damaging Het
Pcsk5 T C 19: 17,652,949 (GRCm39) M246V probably damaging Het
Pkd2l2 T A 18: 34,566,355 (GRCm39) V522D probably benign Het
Plekhh1 A T 12: 79,115,880 (GRCm39) M808L probably benign Het
Plpp2 C A 10: 79,362,973 (GRCm39) R157L probably benign Het
Plrg1 T A 3: 82,978,558 (GRCm39) H441Q probably benign Het
Pnpla6 T C 8: 3,572,613 (GRCm39) V300A probably damaging Het
Ptprb A T 10: 116,184,088 (GRCm39) K1633N possibly damaging Het
Ralgapa1 A G 12: 55,659,508 (GRCm39) V2004A possibly damaging Het
Rasd1 G T 11: 59,854,933 (GRCm39) S182R possibly damaging Het
Rc3h2 A T 2: 37,288,373 (GRCm39) probably null Het
Rrp1b T A 17: 32,255,445 (GRCm39) probably benign Het
Ruvbl1 T C 6: 88,474,272 (GRCm39) I425T probably benign Het
Shisal1 T C 15: 84,301,427 (GRCm39) D72G probably damaging Het
Sipa1l1 C T 12: 82,487,682 (GRCm39) A1652V probably benign Het
Slc12a2 A G 18: 58,032,344 (GRCm39) Y348C probably damaging Het
Slc14a2 C A 18: 78,238,963 (GRCm39) V219L possibly damaging Het
Smc1b G T 15: 84,949,185 (GRCm39) P1242Q probably damaging Het
Smim33 A G 18: 35,861,894 (GRCm39) Y126C probably damaging Het
Snx27 T A 3: 94,431,551 (GRCm39) D281V probably damaging Het
Spem2 C T 11: 69,707,973 (GRCm39) V331I probably benign Het
Sptb C A 12: 76,656,052 (GRCm39) K1343N probably damaging Het
Sult2a8 T C 7: 14,147,584 (GRCm39) I236V probably benign Het
Syk A G 13: 52,765,071 (GRCm39) E66G probably damaging Het
Synm T A 7: 67,385,406 (GRCm39) E310V probably damaging Het
Tas2r118 G A 6: 23,969,209 (GRCm39) A284V probably benign Het
Thoc2l T A 5: 104,667,742 (GRCm39) F755I probably damaging Het
Tlr11 A G 14: 50,600,578 (GRCm39) N855D possibly damaging Het
Tmem230 G T 2: 132,087,871 (GRCm39) probably benign Het
Trappc8 G A 18: 20,977,237 (GRCm39) T844I probably benign Het
Trmt44 T C 5: 35,722,812 (GRCm39) S419G possibly damaging Het
Trpv1 T A 11: 73,132,574 (GRCm39) V396E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp2 A G 7: 139,587,354 (GRCm39) I337T possibly damaging Het
Ubr4 T C 4: 139,137,934 (GRCm39) I1097T probably damaging Het
Vmn2r61 T C 7: 41,949,953 (GRCm39) F791S possibly damaging Het
Zdhhc2 T A 8: 40,898,825 (GRCm39) M45K probably benign Het
Zfp383 T A 7: 29,614,166 (GRCm39) D140E probably damaging Het
Zfp712 C A 13: 67,189,425 (GRCm39) K367N probably damaging Het
Zfp763 C T 17: 33,237,949 (GRCm39) A399T probably damaging Het
Other mutations in Carnmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Carnmt1 APN 19 18,680,746 (GRCm39) missense possibly damaging 0.92
IGL01347:Carnmt1 APN 19 18,668,818 (GRCm39) missense probably benign 0.21
R0088:Carnmt1 UTSW 19 18,655,217 (GRCm39) missense probably benign 0.02
R1929:Carnmt1 UTSW 19 18,680,734 (GRCm39) missense probably damaging 1.00
R2270:Carnmt1 UTSW 19 18,680,734 (GRCm39) missense probably damaging 1.00
R2271:Carnmt1 UTSW 19 18,680,734 (GRCm39) missense probably damaging 1.00
R2272:Carnmt1 UTSW 19 18,680,734 (GRCm39) missense probably damaging 1.00
R2519:Carnmt1 UTSW 19 18,671,075 (GRCm39) missense probably benign 0.41
R4597:Carnmt1 UTSW 19 18,648,451 (GRCm39) missense probably damaging 1.00
R5030:Carnmt1 UTSW 19 18,668,950 (GRCm39) missense possibly damaging 0.82
R5933:Carnmt1 UTSW 19 18,681,469 (GRCm39) missense probably benign 0.00
R7262:Carnmt1 UTSW 19 18,655,228 (GRCm39) missense probably benign 0.33
R7394:Carnmt1 UTSW 19 18,648,201 (GRCm39) start gained probably benign
X0024:Carnmt1 UTSW 19 18,655,068 (GRCm39) nonsense probably null
X0065:Carnmt1 UTSW 19 18,667,673 (GRCm39) missense probably benign 0.00
Z1176:Carnmt1 UTSW 19 18,681,454 (GRCm39) missense probably benign 0.27
Z1176:Carnmt1 UTSW 19 18,656,577 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- CCTTCAAACGTCAAAGGGTG -3'
(R):5'- TGCACAAGAGCTGGACAGAC -3'

Sequencing Primer
(F):5'- CGTCAAAGGGTGGGGCCTAAG -3'
(R):5'- GAGCTGGACAGACAGACCATAAC -3'
Posted On 2016-06-15