Incidental Mutation 'R8195:Cmtm2a'
ID 635400
Institutional Source Beutler Lab
Gene Symbol Cmtm2a
Ensembl Gene ENSMUSG00000074127
Gene Name CKLF-like MARVEL transmembrane domain containing 2A
Synonyms Cklf, 1700063K20Rik, 1700001K04Rik, ARR19, 1700041N15Rik, Cklfsf2a
MMRRC Submission 067618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8195 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 105007674-105019813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105019670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 7 (F7L)
Ref Sequence ENSEMBL: ENSMUSP00000034344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034344] [ENSMUST00000159039] [ENSMUST00000160596] [ENSMUST00000162616] [ENSMUST00000164175] [ENSMUST00000212487] [ENSMUST00000212492]
AlphaFold Q9DAR1
Predicted Effect probably benign
Transcript: ENSMUST00000034344
AA Change: F7L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034344
Gene: ENSMUSG00000074127
AA Change: F7L

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
transmembrane domain 72 94 N/A INTRINSIC
transmembrane domain 107 126 N/A INTRINSIC
transmembrane domain 136 158 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159039
SMART Domains Protein: ENSMUSP00000124855
Gene: ENSMUSG00000110430

DomainStartEndE-ValueType
low complexity region 7 27 N/A INTRINSIC
internal_repeat_1 33 70 7.45e-12 PROSPERO
internal_repeat_2 34 74 9.92e-7 PROSPERO
internal_repeat_1 66 103 7.45e-12 PROSPERO
internal_repeat_2 122 162 9.92e-7 PROSPERO
transmembrane domain 190 212 N/A INTRINSIC
transmembrane domain 227 246 N/A INTRINSIC
transmembrane domain 253 275 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160596
SMART Domains Protein: ENSMUSP00000124656
Gene: ENSMUSG00000110430

DomainStartEndE-ValueType
low complexity region 7 27 N/A INTRINSIC
internal_repeat_1 33 70 1.42e-11 PROSPERO
internal_repeat_2 34 74 1.79e-6 PROSPERO
internal_repeat_1 66 103 1.42e-11 PROSPERO
internal_repeat_2 122 162 1.79e-6 PROSPERO
transmembrane domain 262 284 N/A INTRINSIC
transmembrane domain 289 311 N/A INTRINSIC
transmembrane domain 315 334 N/A INTRINSIC
transmembrane domain 341 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162616
SMART Domains Protein: ENSMUSP00000124800
Gene: ENSMUSG00000031876

DomainStartEndE-ValueType
low complexity region 7 27 N/A INTRINSIC
internal_repeat_1 33 70 1.42e-11 PROSPERO
internal_repeat_2 34 74 1.79e-6 PROSPERO
internal_repeat_1 66 103 1.42e-11 PROSPERO
internal_repeat_2 122 162 1.79e-6 PROSPERO
transmembrane domain 262 284 N/A INTRINSIC
transmembrane domain 289 311 N/A INTRINSIC
transmembrane domain 315 334 N/A INTRINSIC
transmembrane domain 341 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164175
SMART Domains Protein: ENSMUSP00000132828
Gene: ENSMUSG00000110430

DomainStartEndE-ValueType
low complexity region 7 27 N/A INTRINSIC
internal_repeat_1 34 71 1.23e-5 PROSPERO
internal_repeat_1 100 137 1.23e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000212487
AA Change: F7L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000212492
AA Change: F7L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,224,735 (GRCm39) G483R probably benign Het
Abca9 T C 11: 110,029,155 (GRCm39) D801G probably benign Het
Aldob T C 4: 49,538,822 (GRCm39) N232S probably damaging Het
Ankhd1 T C 18: 36,787,230 (GRCm39) V322A Het
Arfgef1 T C 1: 10,243,478 (GRCm39) K1024E probably damaging Het
Arhgef40 T A 14: 52,226,226 (GRCm39) V90E probably damaging Het
Cblc A T 7: 19,519,262 (GRCm39) S399R possibly damaging Het
Ccdc17 T A 4: 116,456,211 (GRCm39) I368K possibly damaging Het
Ccdc17 T A 4: 116,456,213 (GRCm39) W369R probably damaging Het
Cd276 G A 9: 58,444,755 (GRCm39) T72I probably damaging Het
Cdk14 C T 5: 5,277,159 (GRCm39) probably null Het
Cfap61 C T 2: 145,789,095 (GRCm39) S33L probably benign Het
Eif2ak4 T C 2: 118,280,819 (GRCm39) I1062T possibly damaging Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Fxr1 A T 3: 34,101,878 (GRCm39) E204V probably damaging Het
Fzd6 T A 15: 38,894,959 (GRCm39) L375Q probably damaging Het
Ggta1 T A 2: 35,312,279 (GRCm39) E33V probably damaging Het
Gnb1l T A 16: 18,362,965 (GRCm39) I119N probably benign Het
Gpsm1 A G 2: 26,214,929 (GRCm39) probably null Het
Hecw1 A G 13: 14,480,692 (GRCm39) I885T probably damaging Het
Itgb8 T C 12: 119,131,905 (GRCm39) D580G probably damaging Het
Kbtbd12 T A 6: 88,594,913 (GRCm39) T306S possibly damaging Het
Kctd1 C T 18: 15,196,300 (GRCm39) E108K unknown Het
Lrrc36 A G 8: 106,178,717 (GRCm39) D304G possibly damaging Het
Lrrn2 A G 1: 132,865,082 (GRCm39) E49G probably damaging Het
Lysmd2 C A 9: 75,533,310 (GRCm39) Y88* probably null Het
Lzts3 A G 2: 130,477,105 (GRCm39) S448P probably benign Het
Meioc T A 11: 102,565,893 (GRCm39) L447* probably null Het
Mybpc1 A G 10: 88,394,553 (GRCm39) I244T possibly damaging Het
Necab3 G A 2: 154,389,363 (GRCm39) A160V probably benign Het
Nek8 G T 11: 78,061,587 (GRCm39) P314Q possibly damaging Het
Nlrp5 A G 7: 23,112,762 (GRCm39) T140A probably benign Het
Or10p21 T C 10: 128,847,444 (GRCm39) C97R probably damaging Het
Or52ac1 A T 7: 104,246,133 (GRCm39) F85Y probably damaging Het
Or7e169 A T 9: 19,757,780 (GRCm39) I45N probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pgm3 G A 9: 86,452,374 (GRCm39) R29W probably damaging Het
Ppp2r3d A G 9: 101,090,231 (GRCm39) C31R probably damaging Het
Prom1 C T 5: 44,194,770 (GRCm39) S334N possibly damaging Het
Rai14 C T 15: 10,575,302 (GRCm39) S581N probably benign Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rgs16 T C 1: 153,616,689 (GRCm39) F42S probably benign Het
Slc2a6 T G 2: 26,917,838 (GRCm39) E27A probably benign Het
Slc38a1 G A 15: 96,490,447 (GRCm39) S110L probably benign Het
Sox30 C T 11: 45,882,592 (GRCm39) R541C probably benign Het
Sptbn4 C A 7: 27,108,314 (GRCm39) E703* probably null Het
Tjp1 A T 7: 64,993,470 (GRCm39) F34L probably damaging Het
Trim65 T C 11: 116,017,037 (GRCm39) Q475R probably benign Het
Ttc38 A T 15: 85,728,716 (GRCm39) R223* probably null Het
Tulp1 T C 17: 28,583,300 (GRCm39) Q80R probably benign Het
Utp23 T C 15: 51,745,598 (GRCm39) F139L possibly damaging Het
Vmn1r121 A T 7: 20,832,228 (GRCm39) F71I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zdbf2 T C 1: 63,343,225 (GRCm39) S535P possibly damaging Het
Zfp788 T G 7: 41,298,801 (GRCm39) M479R probably benign Het
Other mutations in Cmtm2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Cmtm2a APN 8 105,019,562 (GRCm39) missense probably damaging 0.99
IGL00774:Cmtm2a APN 8 105,019,562 (GRCm39) missense probably damaging 0.99
IGL01551:Cmtm2a APN 8 105,019,286 (GRCm39) missense probably damaging 0.98
IGL03410:Cmtm2a APN 8 105,010,501 (GRCm39) missense probably damaging 1.00
R2122:Cmtm2a UTSW 8 105,019,655 (GRCm39) missense possibly damaging 0.55
R4092:Cmtm2a UTSW 8 105,019,403 (GRCm39) missense probably benign 0.08
R5683:Cmtm2a UTSW 8 105,019,676 (GRCm39) splice site probably null
R5735:Cmtm2a UTSW 8 105,019,418 (GRCm39) missense probably damaging 1.00
R6133:Cmtm2a UTSW 8 105,019,362 (GRCm39) missense probably benign 0.29
R8125:Cmtm2a UTSW 8 105,019,343 (GRCm39) missense probably damaging 1.00
R8838:Cmtm2a UTSW 8 105,008,036 (GRCm39) missense probably damaging 0.99
R9001:Cmtm2a UTSW 8 105,019,376 (GRCm39) missense probably benign 0.15
R9219:Cmtm2a UTSW 8 105,008,101 (GRCm39) missense probably damaging 0.99
R9615:Cmtm2a UTSW 8 105,019,286 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TAGATACACCTGAGCTGCTGC -3'
(R):5'- AAGAGCAAGCGTTAGAATTCTGC -3'

Sequencing Primer
(F):5'- TGAGGACCTCTCCAATCCC -3'
(R):5'- CAAGCGTTAGAATTCTGCAGTTCCAG -3'
Posted On 2020-07-13