Incidental Mutation 'R7952:Cmtm2b'
Institutional Source Beutler Lab
Gene Symbol Cmtm2b
Ensembl Gene ENSMUSG00000035785
Gene NameCKLF-like MARVEL transmembrane domain containing 2B
Synonyms1700013O04Rik, Cklfsf2b
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #R7952 (G1)
Quality Score225.009
Status Validated
Chromosomal Location104322230-104330764 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 104330571 bp
Amino Acid Change Glutamic Acid to Stop codon at position 188 (E188*)
Ref Sequence ENSEMBL: ENSMUSP00000043127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041973] [ENSMUST00000212912]
Predicted Effect probably null
Transcript: ENSMUST00000041973
AA Change: E188*
SMART Domains Protein: ENSMUSP00000043127
Gene: ENSMUSG00000035785
AA Change: E188*

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 null
Transcript: ENSMUST00000212912
AA Change: E104*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (47/48)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 T C 1: 180,752,338 S516P possibly damaging Het
Adora1 A G 1: 134,203,286 S216P possibly damaging Het
Arhgap17 G T 7: 123,286,691 S739R probably benign Het
Bphl A G 13: 34,046,797 T75A probably benign Het
Ccdc73 G A 2: 104,945,456 probably null Het
Cela3b T C 4: 137,421,908 I262V probably benign Het
Chpf T C 1: 75,478,942 N55S probably benign Het
Chst8 A G 7: 34,675,494 Y307H probably damaging Het
Cxadr C T 16: 78,334,235 T213M possibly damaging Het
D3Ertd751e T A 3: 41,748,661 probably null Het
Dhx32 T C 7: 133,748,996 Y115C probably benign Het
Dopey2 C A 16: 93,749,960 T284K possibly damaging Het
Dync2h1 A G 9: 7,129,802 V1732A possibly damaging Het
Egf C T 3: 129,739,996 R65Q probably damaging Het
Fat4 T G 3: 38,891,721 S1588A probably damaging Het
Fmnl3 A G 15: 99,322,637 V588A probably damaging Het
Galnt3 C T 2: 66,097,842 E237K probably benign Het
Gm7682 T C 5: 94,447,043 V254A probably benign Het
Grik2 T C 10: 49,422,537 I363V probably benign Het
Grik3 C T 4: 125,704,547 T769I probably damaging Het
Hpd A T 5: 123,178,264 D141E possibly damaging Het
Hrc A T 7: 45,336,268 D281V probably damaging Het
Igfn1 A T 1: 135,963,955 I2274K probably damaging Het
Iqgap3 A G 3: 88,098,370 I502V probably benign Het
Kcnh8 A T 17: 52,959,465 Q835L probably benign Het
Kmt2d C T 15: 98,850,768 G2892R unknown Het
Lama4 T G 10: 39,030,490 I284S probably benign Het
Madd C A 2: 91,162,541 G1011V probably damaging Het
Mroh2b T C 15: 4,951,211 F1421L probably damaging Het
Nadk G T 4: 155,577,067 D17Y probably benign Het
Nedd9 C A 13: 41,316,955 D241Y probably damaging Het
Notch2 T C 3: 98,100,236 V434A probably benign Het
Ofcc1 C T 13: 40,280,305 R108Q probably benign Het
Olfr118 T C 17: 37,672,817 Y265H probably damaging Het
Olfr578 A G 7: 102,984,514 F217L probably benign Het
Prss55 A G 14: 64,075,683 Y251H probably damaging Het
Rec8 T C 14: 55,625,303 V573A possibly damaging Het
Ryr2 T C 13: 11,646,427 probably null Het
Sec31b A G 19: 44,520,540 S667P probably benign Het
Smim17 A G 7: 6,424,850 D45G possibly damaging Het
Sspo A G 6: 48,487,329 T3906A probably damaging Het
Tanc2 G T 11: 105,896,597 G908W probably damaging Het
Tcf7l2 A T 19: 55,898,557 M1L probably benign Het
Tcrg-C4 T A 13: 19,349,570 S121R Het
Tpx2 C T 2: 152,893,594 A714V probably damaging Het
Trmt1 G A 8: 84,689,340 R9H possibly damaging Het
Unc13a A T 8: 71,658,487 V360E possibly damaging Het
Vmn1r225 T A 17: 20,502,327 I10N probably damaging Het
Xkr4 A G 1: 3,670,619 S244P possibly damaging Het
Zkscan14 G T 5: 145,195,898 H274Q probably damaging Het
Other mutations in Cmtm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cmtm2b APN 8 104330446 missense possibly damaging 0.95
IGL01629:Cmtm2b APN 8 104329788 missense possibly damaging 0.80
IGL02930:Cmtm2b APN 8 104329770 missense probably benign 0.01
R0268:Cmtm2b UTSW 8 104322434 missense probably damaging 1.00
R0486:Cmtm2b UTSW 8 104330415 missense probably damaging 1.00
R6721:Cmtm2b UTSW 8 104322445 missense possibly damaging 0.91
R7582:Cmtm2b UTSW 8 104322721 missense probably damaging 1.00
R7991:Cmtm2b UTSW 8 104329787 nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On2020-09-15