Incidental Mutation 'R9289:Cmtm2b'
ID 704147
Institutional Source Beutler Lab
Gene Symbol Cmtm2b
Ensembl Gene ENSMUSG00000035785
Gene Name CKLF-like MARVEL transmembrane domain containing 2B
Synonyms Cklfsf2b, 1700013O04Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R9289 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 105048862-105057396 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 105048980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041973] [ENSMUST00000109447] [ENSMUST00000212912]
AlphaFold Q9DAC0
Predicted Effect probably benign
Transcript: ENSMUST00000041973
SMART Domains Protein: ENSMUSP00000043127
Gene: ENSMUSG00000035785

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 probably benign
Transcript: ENSMUST00000212912
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 144,982,333 (GRCm39) T306I probably benign Het
Aurkb T C 11: 68,941,175 (GRCm39) I250T probably damaging Het
C1qtnf1 A G 11: 118,334,672 (GRCm39) T51A probably benign Het
C1rb G T 6: 124,552,272 (GRCm39) R330L possibly damaging Het
Cd8b1 G A 6: 71,306,777 (GRCm39) probably null Het
Cep57l1 A T 10: 41,607,082 (GRCm39) D160E probably damaging Het
Ces1f C T 8: 93,992,491 (GRCm39) S320N probably benign Het
Cfap54 A G 10: 92,656,936 (GRCm39) S3039P possibly damaging Het
Chia1 A T 3: 106,022,502 (GRCm39) probably benign Het
Chka T G 19: 3,935,953 (GRCm39) F220V possibly damaging Het
Dgcr8 C T 16: 18,098,079 (GRCm39) probably benign Het
Dhx30 T C 9: 109,920,603 (GRCm39) T304A possibly damaging Het
Dhx30 A T 9: 109,922,189 (GRCm39) D164E probably benign Het
Dip2b A T 15: 100,071,152 (GRCm39) K661I probably damaging Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dop1b T A 16: 93,568,681 (GRCm39) L1581H probably damaging Het
Fam219a C A 4: 41,521,942 (GRCm39) G46V probably damaging Het
Fer1l6 G A 15: 58,490,766 (GRCm39) V1028M probably damaging Het
Glb1 C A 9: 114,249,558 (GRCm39) A129E probably damaging Het
Heatr1 T C 13: 12,447,608 (GRCm39) V1767A probably benign Het
Ift88 T A 14: 57,718,199 (GRCm39) S591T probably benign Het
Itgb4 A G 11: 115,885,187 (GRCm39) K1023R probably benign Het
Mfng C A 15: 78,643,457 (GRCm39) S250I probably damaging Het
Mmp9 A G 2: 164,796,800 (GRCm39) T723A probably benign Het
Mzf1 T A 7: 12,785,534 (GRCm39) H299L probably benign Het
Naa40 T C 19: 7,211,485 (GRCm39) K47E possibly damaging Het
Ncdn A C 4: 126,643,903 (GRCm39) F306L possibly damaging Het
Notch3 A G 17: 32,377,254 (GRCm39) C246R probably damaging Het
Npc1l1 A T 11: 6,168,355 (GRCm39) Y945* probably null Het
Or2av9 T A 11: 58,380,745 (GRCm39) I279L probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or2y14 C T 11: 49,404,635 (GRCm39) P57S probably damaging Het
Or52n5 T C 7: 104,587,816 (GRCm39) W28R probably damaging Het
Pcnx1 C A 12: 82,028,853 (GRCm39) D1044E Het
Pgm2l1 T A 7: 99,919,629 (GRCm39) I575K probably damaging Het
Plat T C 8: 23,272,100 (GRCm39) I553T probably damaging Het
Prrc2c A G 1: 162,507,130 (GRCm39) V2513A probably benign Het
Qser1 A T 2: 104,617,593 (GRCm39) V983E possibly damaging Het
Ring1 A G 17: 34,241,547 (GRCm39) S190P possibly damaging Het
Rnf150 A G 8: 83,716,982 (GRCm39) E163G probably benign Het
Scgb2b12 T C 7: 32,026,060 (GRCm39) H44R probably benign Het
Septin4 T A 11: 87,459,792 (GRCm39) C513* probably null Het
Shtn1 T C 19: 58,998,257 (GRCm39) K379E probably damaging Het
Slc52a2 G T 15: 76,424,475 (GRCm39) V238L probably benign Het
Smg1 T C 7: 117,744,639 (GRCm39) H3171R possibly damaging Het
Tada3 A G 6: 113,347,264 (GRCm39) V342A possibly damaging Het
Tbc1d20 T C 2: 152,153,262 (GRCm39) V264A probably damaging Het
Tmco5 G A 2: 116,710,745 (GRCm39) A22T probably benign Het
Tmem63b A G 17: 45,975,697 (GRCm39) F549S probably benign Het
Trav16d-dv11 T C 14: 53,285,086 (GRCm39) F54S probably benign Het
Trim7 A T 11: 48,736,281 (GRCm39) K5* probably null Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Zfp78 T C 7: 6,381,367 (GRCm39) I139T probably benign Het
Zfp839 T A 12: 110,834,878 (GRCm39) V711D 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
R6721:Cmtm2b UTSW 8 105,049,077 (GRCm39) missense possibly damaging 0.91
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
Predicted Primers PCR Primer
(F):5'- TGCTGGTCCACTAGATGAGGTG -3'
(R):5'- CTACCCTGCTTTTGAGGAACC -3'

Sequencing Primer
(F):5'- CCACTAGATGAGGTGGGCTC -3'
(R):5'- GCTTTTGAGGAACCCCACC -3'
Posted On 2022-03-25