Incidental Mutation 'R1006:Cnbd2'
ID 95722
Institutional Source Beutler Lab
Gene Symbol Cnbd2
Ensembl Gene ENSMUSG00000038085
Gene Name cyclic nucleotide binding domain containing 2
Synonyms 4921517L17Rik, 5430421B09Rik
MMRRC Submission 039116-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1006 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 156154219-156217558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156170328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 138 (I138V)
Ref Sequence ENSEMBL: ENSMUSP00000041268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037096] [ENSMUST00000073942] [ENSMUST00000109580]
AlphaFold Q9D5U8
Predicted Effect possibly damaging
Transcript: ENSMUST00000037096
AA Change: I138V

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085
AA Change: I138V

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: ENSMUST00000073942
AA Change: I21V

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073598
Gene: ENSMUSG00000038085
AA Change: I21V

DomainStartEndE-ValueType
cNMP 89 215 1.78e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109580
AA Change: I21V

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105208
Gene: ENSMUSG00000038085
AA Change: I21V

DomainStartEndE-ValueType
cNMP 77 203 1.78e-7 SMART
Blast:cNMP 247 314 3e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131801
Meta Mutation Damage Score 0.3486 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.8%
  • 10x: 93.4%
  • 20x: 82.9%
Validation Efficiency 100% (43/43)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,911,085 (GRCm39) I282N probably benign Het
Akr1c18 T C 13: 4,186,654 (GRCm39) I265V probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Arfgef1 T C 1: 10,210,706 (GRCm39) I1788V probably benign Het
Cacng7 T A 7: 3,415,445 (GRCm39) I270N possibly damaging Het
Ccdc81 C T 7: 89,515,769 (GRCm39) E637K probably benign Het
Cntnap5b A G 1: 100,311,342 (GRCm39) K983E probably benign Het
Col14a1 T C 15: 55,383,331 (GRCm39) S1770P probably benign Het
Cpsf6 A T 10: 117,201,973 (GRCm39) probably benign Het
Ctsc G A 7: 87,959,037 (GRCm39) R439H probably damaging Het
Dcun1d1 A G 3: 35,951,930 (GRCm39) probably benign Het
Flg2 A G 3: 93,108,514 (GRCm39) I181V probably benign Het
Gbp2 A T 3: 142,343,183 (GRCm39) S567C probably damaging Het
Gm5114 A G 7: 39,058,510 (GRCm39) S370P probably damaging Het
Kcnh7 A G 2: 62,546,527 (GRCm39) V1018A probably benign Het
Kmt2a G A 9: 44,758,993 (GRCm39) A952V probably damaging Het
Krt1 C T 15: 101,756,326 (GRCm39) E340K possibly damaging Het
Lim2 T A 7: 43,084,826 (GRCm39) I141N probably damaging Het
Nlrp4a T C 7: 26,152,892 (GRCm39) V654A probably benign Het
Or5b24 T A 19: 12,912,638 (GRCm39) C179S probably damaging Het
Prr14l T C 5: 32,986,826 (GRCm39) S890G probably benign Het
Psmd14 T A 2: 61,627,726 (GRCm39) probably null Het
Ptpn13 A G 5: 103,734,655 (GRCm39) D2129G probably benign Het
Pum1 C T 4: 130,499,199 (GRCm39) T760M probably damaging Het
Rif1 A G 2: 51,975,041 (GRCm39) I317V probably damaging Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slfn8 A T 11: 82,894,337 (GRCm39) H767Q possibly damaging Het
Sned1 G A 1: 93,184,114 (GRCm39) G114D probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Tenm3 A T 8: 48,681,577 (GRCm39) D2684E probably damaging Het
Tet2 T C 3: 133,182,362 (GRCm39) T1201A possibly damaging Het
Vax2 T C 6: 83,714,759 (GRCm39) S225P probably damaging Het
Vcan A G 13: 89,833,196 (GRCm39) probably null Het
Washc5 T A 15: 59,241,035 (GRCm39) Q100L probably benign Het
Washc5 G T 15: 59,241,036 (GRCm39) Q100K probably benign Het
Zc3h13 A G 14: 75,567,989 (GRCm39) D1094G probably damaging Het
Zmiz1 A G 14: 25,663,404 (GRCm39) Y1051C unknown Het
Zswim2 G A 2: 83,745,737 (GRCm39) S567L probably damaging 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
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
R6197:Cnbd2 UTSW 2 156,217,494 (GRCm39) missense possibly damaging 0.86
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'- ACTCCTGACTGTGTAAGCACTGTCC -3'
(R):5'- ATGTAAGCAGAACACTTCTGGCCTC -3'

Sequencing Primer
(F):5'- TGTAAGCACTGTCCTAACACAC -3'
(R):5'- CGTGAAAGGCCGTCTAATTC -3'
Posted On 2014-01-05