Incidental Mutation 'R6721:Cmtm2b'
ID 529592
Institutional Source Beutler Lab
Gene Symbol Cmtm2b
Ensembl Gene ENSMUSG00000035785
Gene Name CKLF-like MARVEL transmembrane domain containing 2B
Synonyms Cklfsf2b, 1700013O04Rik
MMRRC Submission 044839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R6721 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 105048862-105057396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105049077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 31 (S31G)
Ref Sequence ENSEMBL: ENSMUSP00000043127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041973] [ENSMUST00000109447] [ENSMUST00000212912]
AlphaFold Q9DAC0
Predicted Effect possibly damaging
Transcript: ENSMUST00000041973
AA Change: S31G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043127
Gene: ENSMUSG00000035785
AA Change: S31G

DomainStartEndE-ValueType
transmembrane domain 45 62 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 95 117 N/A INTRINSIC
transmembrane domain 127 149 N/A INTRINSIC
low complexity region 185 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211839
Predicted Effect probably benign
Transcript: ENSMUST00000212912
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,629,634 (GRCm39) L3588S probably benign Het
Ankrd27 T C 7: 35,311,976 (GRCm39) F402S probably damaging Het
Aplp1 T C 7: 30,139,720 (GRCm39) Q359R probably null Het
Arhgef10l T C 4: 140,297,655 (GRCm39) Y546C probably damaging Het
Bltp2 T C 11: 78,170,625 (GRCm39) Y1615H probably damaging Het
Cd46 T C 1: 194,765,939 (GRCm39) Y142C probably damaging Het
Cfap418 A G 4: 10,874,744 (GRCm39) N44D probably benign Het
Chd3 T C 11: 69,260,045 (GRCm39) probably benign Het
CN725425 A G 15: 91,115,821 (GRCm39) K21R possibly damaging Het
Cngb1 T C 8: 95,997,516 (GRCm39) T560A probably benign Het
Creb3l3 T C 10: 80,926,977 (GRCm39) D151G probably damaging Het
Cts7 A T 13: 61,504,108 (GRCm39) V124E probably damaging Het
Ctsd G A 7: 141,930,590 (GRCm39) P349S possibly damaging Het
Ern1 A G 11: 106,302,478 (GRCm39) W459R probably damaging Het
Faxc A T 4: 21,982,672 (GRCm39) probably null Het
Gabbr1 T C 17: 37,365,084 (GRCm39) I239T probably damaging Het
Galnt12 T A 4: 47,122,529 (GRCm39) C269* probably null Het
Gmpr2 A T 14: 55,910,191 (GRCm39) D7V probably damaging Het
Hivep3 T A 4: 119,952,296 (GRCm39) I204N possibly damaging Het
Il16 A T 7: 83,312,270 (GRCm39) probably null Het
Jag1 T C 2: 136,936,394 (GRCm39) T367A probably benign Het
Lefty2 T C 1: 180,722,166 (GRCm39) V168A probably damaging Het
Mecom T C 3: 30,034,023 (GRCm39) E227G probably damaging Het
Muc5ac T A 7: 141,352,729 (GRCm39) C739S possibly damaging Het
Npy1r T A 8: 67,156,941 (GRCm39) C120* probably null Het
Nup153 A G 13: 46,854,502 (GRCm39) V530A probably damaging Het
Ogfr T A 2: 180,237,221 (GRCm39) L602Q possibly damaging Het
Or10g7 C T 9: 39,905,603 (GRCm39) P166S possibly damaging Het
Or10h5 C T 17: 33,434,508 (GRCm39) G270E probably benign Het
Or7e178 A C 9: 20,225,576 (GRCm39) D213E probably benign Het
Perm1 G T 4: 156,302,776 (GRCm39) R440L probably benign Het
Plcb4 T C 2: 135,752,157 (GRCm39) V121A probably benign Het
Plxna4 C T 6: 32,177,794 (GRCm39) V1036M probably benign Het
Ppl A T 16: 4,925,333 (GRCm39) M102K probably damaging Het
Prop1 T C 11: 50,844,213 (GRCm39) S7G probably benign Het
Rabggta A G 14: 55,954,660 (GRCm39) L507P probably damaging Het
Sfmbt2 A G 2: 10,547,836 (GRCm39) T473A probably damaging Het
Spc25 A C 2: 69,027,517 (GRCm39) M125R possibly damaging Het
Taok3 T C 5: 117,393,928 (GRCm39) M567T probably benign Het
Tlr3 A G 8: 45,851,917 (GRCm39) Y327H probably benign Het
Tmem209 A G 6: 30,497,174 (GRCm39) F339L probably benign Het
U2surp T C 9: 95,373,157 (GRCm39) N279S probably damaging Het
Ythdf3 G A 3: 16,258,025 (GRCm39) M61I possibly damaging Het
Zfp647 T C 15: 76,796,076 (GRCm39) I195V probably benign Het
Other mutations in Cmtm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cmtm2b APN 8 105,057,078 (GRCm39) missense possibly damaging 0.95
IGL01629:Cmtm2b APN 8 105,056,420 (GRCm39) missense possibly damaging 0.80
IGL02930:Cmtm2b APN 8 105,056,402 (GRCm39) missense probably benign 0.01
R0268:Cmtm2b UTSW 8 105,049,066 (GRCm39) missense probably damaging 1.00
R0486:Cmtm2b UTSW 8 105,057,047 (GRCm39) missense probably damaging 1.00
R7582:Cmtm2b UTSW 8 105,049,353 (GRCm39) missense probably damaging 1.00
R7952:Cmtm2b UTSW 8 105,057,203 (GRCm39) nonsense probably null
R7991:Cmtm2b UTSW 8 105,056,419 (GRCm39) nonsense probably null
R9289:Cmtm2b UTSW 8 105,048,980 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGAGAGCCACCCTTGAACAG -3'
(R):5'- TTGGAAACAGACCATTGCAGC -3'

Sequencing Primer
(F):5'- CCCTTGAACAGGTCAGGAGAC -3'
(R):5'- TTGCAGCAATGAGGAGGATCTG -3'
Posted On 2018-08-01