Incidental Mutation 'R0486:Cmtm2b'
ID 42289
Institutional Source Beutler Lab
Gene Symbol Cmtm2b
Ensembl Gene ENSMUSG00000035785
Gene Name CKLF-like MARVEL transmembrane domain containing 2B
Synonyms Cklfsf2b, 1700013O04Rik
MMRRC Submission 038685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R0486 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105048862-105057396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105057047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 136 (I136F)
Ref Sequence ENSEMBL: ENSMUSP00000043127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041973] [ENSMUST00000212912]
AlphaFold Q9DAC0
Predicted Effect probably damaging
Transcript: ENSMUST00000041973
AA Change: I136F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043127
Gene: ENSMUSG00000035785
AA Change: I136F

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 damaging
Transcript: ENSMUST00000212912
AA Change: I52F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.2924 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 98% (65/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T C 4: 40,177,783 (GRCm39) L268P probably damaging Het
Adam22 A T 5: 8,380,048 (GRCm39) H83Q probably damaging Het
Anln T C 9: 22,264,122 (GRCm39) D886G probably benign Het
Arhgef11 T A 3: 87,596,159 (GRCm39) probably null Het
Ark2c T A 18: 77,571,950 (GRCm39) Q91L probably damaging Het
Arl8b A T 6: 108,792,287 (GRCm39) D116V possibly damaging Het
BC051665 C T 13: 60,931,859 (GRCm39) G180D probably damaging Het
Bloc1s2 A G 19: 44,131,589 (GRCm39) probably benign Het
Ccdc185 T G 1: 182,575,424 (GRCm39) S422R possibly damaging Het
Cd101 T C 3: 100,915,408 (GRCm39) K720E possibly damaging Het
Cdh23 C A 10: 60,222,725 (GRCm39) A1236S probably damaging Het
Chd1 G A 17: 15,954,604 (GRCm39) A491T probably damaging Het
Chdh T C 14: 29,754,815 (GRCm39) V275A possibly damaging Het
Cps1 T C 1: 67,204,551 (GRCm39) V457A probably damaging Het
Cwf19l1 A G 19: 44,103,129 (GRCm39) V362A probably benign Het
Cyp4f17 T C 17: 32,743,797 (GRCm39) probably benign Het
Cyp4f18 C A 8: 72,749,861 (GRCm39) V263L probably benign Het
Dclre1a A G 19: 56,529,922 (GRCm39) probably benign Het
Dpp6 T C 5: 27,866,640 (GRCm39) I446T probably benign Het
F11r T C 1: 171,288,156 (GRCm39) W61R probably damaging Het
Fam120b C T 17: 15,646,550 (GRCm39) probably benign Het
Fastkd2 T C 1: 63,791,499 (GRCm39) V669A possibly damaging Het
Foxg1 T C 12: 49,431,314 (GRCm39) probably benign Het
Foxo3 A G 10: 42,073,477 (GRCm39) Y347H probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gbp7 C A 3: 142,252,078 (GRCm39) probably benign Het
Glipr1 T C 10: 111,832,754 (GRCm39) probably benign Het
Gm11555 A G 11: 99,540,986 (GRCm39) S8P unknown Het
H6pd G A 4: 150,067,393 (GRCm39) probably benign Het
Haus8 C A 8: 71,709,181 (GRCm39) G76W probably damaging Het
Haus8 C T 8: 71,709,182 (GRCm39) M75I probably benign Het
Kcnj13 C A 1: 87,314,752 (GRCm39) V157L probably damaging Het
Kcnt2 T A 1: 140,437,218 (GRCm39) C550* probably null Het
Kdm5d A G Y: 927,107 (GRCm39) N615S probably damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ncapd2 G A 6: 125,160,990 (GRCm39) R292* probably null Het
Ngef T A 1: 87,406,848 (GRCm39) N640I probably damaging Het
Nhlrc3 T C 3: 53,359,858 (GRCm39) Y335C probably damaging Het
Nipbl A T 15: 8,368,354 (GRCm39) probably benign Het
Nop2 A G 6: 125,117,636 (GRCm39) K434R probably null Het
Nr4a3 T C 4: 48,056,525 (GRCm39) probably benign Het
Or8b35 A G 9: 37,903,998 (GRCm39) N70S possibly damaging Het
Piezo2 A C 18: 63,162,132 (GRCm39) I2233R probably damaging Het
Prag1 A T 8: 36,613,787 (GRCm39) E1113V probably damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Psmd1 T A 1: 86,022,012 (GRCm39) N611K probably damaging Het
Ptpn7 C T 1: 135,065,096 (GRCm39) T168I probably damaging Het
Pus1 A T 5: 110,927,596 (GRCm39) V53E probably damaging Het
Rgs22 A G 15: 36,093,028 (GRCm39) M415T probably damaging Het
Rnf17 C T 14: 56,751,632 (GRCm39) T1490M probably benign Het
Rnf20 C A 4: 49,645,907 (GRCm39) L332I possibly damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spam1 A T 6: 24,796,394 (GRCm39) Q115L probably damaging Het
Syce1l A T 8: 114,381,395 (GRCm39) probably null Het
Synj1 T C 16: 90,735,151 (GRCm39) probably benign Het
Tas2r126 A T 6: 42,412,225 (GRCm39) I253F probably benign Het
Tecpr2 G A 12: 110,862,803 (GRCm39) V72I probably benign Het
Tfap2a G T 13: 40,882,170 (GRCm39) P45Q probably damaging Het
Trip12 C A 1: 84,738,805 (GRCm39) G714* probably null Het
Wdr31 A G 4: 62,372,130 (GRCm39) S330P probably damaging Het
Wdr64 T C 1: 175,622,769 (GRCm39) probably benign Het
Yes1 T A 5: 32,812,926 (GRCm39) Y343* probably null 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
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
R9289:Cmtm2b UTSW 8 105,048,980 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GGTGGTGTGTAGGAACTTAGCCAAG -3'
(R):5'- TGTGCCCTCTAGTCCATGAGTGTG -3'

Sequencing Primer
(F):5'- GGAACTTAGCCAAGTTACCTGTG -3'
(R):5'- TGGAGAACTCTGCTGGAAATCTG -3'
Posted On 2013-05-23