Incidental Mutation 'R6197:Cnbd2'
ID 502963
Institutional Source Beutler Lab
Gene Symbol Cnbd2
Ensembl Gene ENSMUSG00000038085
Gene Name cyclic nucleotide binding domain containing 2
Synonyms 4921517L17Rik, 5430421B09Rik
MMRRC Submission 044337-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6197 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 156154219-156217558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156217494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 661 (E661G)
Ref Sequence ENSEMBL: ENSMUSP00000041268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037096] [ENSMUST00000109580]
AlphaFold Q9D5U8
Predicted Effect possibly damaging
Transcript: ENSMUST00000037096
AA Change: E661G

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085
AA Change: E661G

DomainStartEndE-ValueType
low complexity region 45 68 N/A INTRINSIC
cNMP 206 332 1.78e-7 SMART
Blast:cNMP 376 443 4e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000109580
AA Change: E532G

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105208
Gene: ENSMUSG00000038085
AA Change: E532G

DomainStartEndE-ValueType
cNMP 77 203 1.78e-7 SMART
Blast:cNMP 247 314 3e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133751
Meta Mutation Damage Score 0.1078 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 92% (49/53)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility associated with impaired spermiogenesis and development of flagellum bending. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T A 5: 3,630,442 (GRCm39) Y119* probably null Het
Abcb9 C A 5: 124,209,812 (GRCm39) E664* probably null Het
Adgrl2 T C 3: 148,564,578 (GRCm39) D334G probably damaging Het
Ak9 T G 10: 41,193,826 (GRCm39) C57G probably damaging Het
Als2cl A G 9: 110,724,952 (GRCm39) K809E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp11a A G 8: 12,896,099 (GRCm39) I223V probably benign Het
Cacna2d3 A T 14: 28,630,278 (GRCm39) V1022E probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Cd37 A G 7: 44,886,598 (GRCm39) C85R probably damaging Het
Ces1g T C 8: 94,063,764 (GRCm39) S7G probably benign Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Col6a3 A T 1: 90,750,063 (GRCm39) F257Y probably damaging Het
Cpt1b T C 15: 89,309,037 (GRCm39) Y55C possibly damaging Het
Csmd1 A G 8: 15,976,611 (GRCm39) V2869A probably benign Het
Dnah11 T C 12: 118,143,482 (GRCm39) E387G probably benign Het
Eny2 T A 15: 44,292,949 (GRCm39) probably null Het
Fbxo10 G T 4: 45,043,857 (GRCm39) H655Q probably benign Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Gpx2 C T 12: 76,842,068 (GRCm39) G28S probably damaging Het
H2-Q5 G T 17: 35,613,918 (GRCm39) A156S probably benign Het
Hoxd4 A G 2: 74,558,807 (GRCm39) D210G possibly damaging Het
Hoxd9 A G 2: 74,529,166 (GRCm39) Q256R probably damaging Het
Macf1 A G 4: 123,346,085 (GRCm39) V2571A probably damaging Het
Mtus1 A G 8: 41,537,074 (GRCm39) V214A possibly damaging Het
Myh1 C T 11: 67,111,793 (GRCm39) A1716V probably benign Het
Nbeal1 A G 1: 60,261,287 (GRCm39) D249G probably damaging Het
Nup54 TCTGCTGCTGCTGCTGCTGCTGCTG TCTGCTGCTGCTGCTGCTGCTG 5: 92,578,663 (GRCm39) probably benign Het
Or10v9 G T 19: 11,833,148 (GRCm39) H56Q probably damaging Het
Or4c124 A T 2: 89,155,677 (GRCm39) N282K probably damaging Het
Or5w17 C T 2: 87,583,696 (GRCm39) V214I probably benign Het
Or7a37 T G 10: 78,805,974 (GRCm39) L164V probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pramel23 T C 4: 143,423,886 (GRCm39) Y301C possibly damaging Het
Prss59 A G 6: 40,897,939 (GRCm39) I248T probably benign Het
Pwwp2a A G 11: 43,595,423 (GRCm39) D196G probably benign Het
Rarg A T 15: 102,150,327 (GRCm39) C93S possibly damaging Het
Rcc1 T C 4: 132,065,073 (GRCm39) D150G possibly damaging Het
Ripk2 A G 4: 16,163,330 (GRCm39) Y23H probably damaging Het
Rragc A G 4: 123,811,340 (GRCm39) Y5C possibly damaging Het
Rubcnl G A 14: 75,269,369 (GRCm39) G9D probably damaging Het
Sephs2 A T 7: 126,872,073 (GRCm39) V340E probably damaging Het
Slc22a3 C T 17: 12,677,438 (GRCm39) M243I probably benign Het
Slco6c1 A G 1: 97,000,518 (GRCm39) probably null Het
Sncaip T G 18: 53,039,966 (GRCm39) I308R probably damaging Het
Supt16 G A 14: 52,408,338 (GRCm39) T869M probably damaging Het
Tanc1 G A 2: 59,674,366 (GRCm39) E1817K possibly damaging Het
Usp4 C A 9: 108,248,154 (GRCm39) Q395K probably damaging Het
Usp49 T A 17: 47,984,272 (GRCm39) S210T possibly damaging Het
Virma A G 4: 11,505,498 (GRCm39) I124M probably damaging Het
Vmn1r234 G A 17: 21,449,589 (GRCm39) V168I probably benign Het
Vnn3 T A 10: 23,732,187 (GRCm39) C146S probably damaging Het
Ylpm1 A G 12: 85,088,953 (GRCm39) D1234G probably damaging Het
Zfp617 T A 8: 72,687,098 (GRCm39) V476E probably benign Het
Other mutations in Cnbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Cnbd2 APN 2 156,154,534 (GRCm39) unclassified probably benign
IGL01472:Cnbd2 APN 2 156,217,268 (GRCm39) missense probably damaging 1.00
IGL01738:Cnbd2 APN 2 156,217,537 (GRCm39) utr 3 prime probably benign
IGL01825:Cnbd2 APN 2 156,180,629 (GRCm39) missense probably damaging 1.00
IGL03001:Cnbd2 APN 2 156,175,554 (GRCm39) critical splice donor site probably null
IGL03057:Cnbd2 APN 2 156,209,592 (GRCm39) missense possibly damaging 0.80
R1006:Cnbd2 UTSW 2 156,170,328 (GRCm39) missense possibly damaging 0.86
R1080:Cnbd2 UTSW 2 156,181,193 (GRCm39) missense probably benign 0.28
R1428:Cnbd2 UTSW 2 156,181,204 (GRCm39) critical splice donor site probably null
R1592:Cnbd2 UTSW 2 156,177,322 (GRCm39) missense probably benign 0.30
R1601:Cnbd2 UTSW 2 156,175,551 (GRCm39) missense probably damaging 0.98
R1637:Cnbd2 UTSW 2 156,215,644 (GRCm39) missense probably damaging 1.00
R2259:Cnbd2 UTSW 2 156,177,192 (GRCm39) missense probably damaging 1.00
R2352:Cnbd2 UTSW 2 156,177,275 (GRCm39) missense probably damaging 1.00
R4106:Cnbd2 UTSW 2 156,177,318 (GRCm39) missense probably damaging 1.00
R4109:Cnbd2 UTSW 2 156,177,318 (GRCm39) missense probably damaging 1.00
R4479:Cnbd2 UTSW 2 156,175,573 (GRCm39) intron probably benign
R4857:Cnbd2 UTSW 2 156,209,485 (GRCm39) missense probably benign 0.01
R4893:Cnbd2 UTSW 2 156,207,104 (GRCm39) missense probably damaging 0.97
R4899:Cnbd2 UTSW 2 156,181,141 (GRCm39) missense probably benign 0.00
R5070:Cnbd2 UTSW 2 156,177,318 (GRCm39) missense probably damaging 1.00
R5446:Cnbd2 UTSW 2 156,209,581 (GRCm39) missense possibly damaging 0.95
R5784:Cnbd2 UTSW 2 156,180,577 (GRCm39) missense probably damaging 1.00
R7009:Cnbd2 UTSW 2 156,161,954 (GRCm39) missense probably benign 0.00
R7221:Cnbd2 UTSW 2 156,215,581 (GRCm39) missense probably benign 0.01
R7577:Cnbd2 UTSW 2 156,170,296 (GRCm39) missense possibly damaging 0.93
R7699:Cnbd2 UTSW 2 156,217,326 (GRCm39) missense probably benign 0.00
R8146:Cnbd2 UTSW 2 156,170,281 (GRCm39) missense probably damaging 1.00
R8893:Cnbd2 UTSW 2 156,154,460 (GRCm39) missense unknown
R9135:Cnbd2 UTSW 2 156,217,488 (GRCm39) missense probably damaging 0.97
R9715:Cnbd2 UTSW 2 156,183,547 (GRCm39) missense probably benign 0.13
R9734:Cnbd2 UTSW 2 156,180,540 (GRCm39) missense possibly damaging 0.91
X0002:Cnbd2 UTSW 2 156,180,617 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- TGGAGCCCCTCAATAAGTCAC -3'
(R):5'- GGGAATGGTCATACTAGTTCCCC -3'

Sequencing Primer
(F):5'- GTCACCATTCATCCCAGTCCAG -3'
(R):5'- GGTCATACTAGTTCCCCAGTAATAG -3'
Posted On 2018-02-27