Incidental Mutation 'R4034:Cngb1'
ID 313624
Institutional Source Beutler Lab
Gene Symbol Cngb1
Ensembl Gene ENSMUSG00000031789
Gene Name cyclic nucleotide gated channel beta 1
Synonyms Cngb1b, BC016201, Cngb1
MMRRC Submission 040962-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4034 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 95965673-96033213 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 95991078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 708 (C708F)
Ref Sequence ENSEMBL: ENSMUSP00000113827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119870] [ENSMUST00000120044] [ENSMUST00000121162]
AlphaFold E1AZ71
Predicted Effect possibly damaging
Transcript: ENSMUST00000119870
AA Change: C708F

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: C708F

DomainStartEndE-ValueType
low complexity region 20 46 N/A INTRINSIC
Pfam:Ion_trans 83 315 9.8e-17 PFAM
cNMP 389 508 4.1e-25 SMART
low complexity region 555 596 N/A INTRINSIC
low complexity region 599 636 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120044
AA Change: C249F

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: C249F

DomainStartEndE-ValueType
low complexity region 20 46 N/A INTRINSIC
transmembrane domain 79 101 N/A INTRINSIC
transmembrane domain 114 136 N/A INTRINSIC
low complexity region 169 182 N/A INTRINSIC
cNMP 389 508 4e-25 SMART
low complexity region 555 596 N/A INTRINSIC
low complexity region 599 636 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121162
AA Change: C249F

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: C249F

DomainStartEndE-ValueType
low complexity region 20 46 N/A INTRINSIC
transmembrane domain 79 101 N/A INTRINSIC
transmembrane domain 114 136 N/A INTRINSIC
low complexity region 169 182 N/A INTRINSIC
cNMP 389 508 4e-25 SMART
low complexity region 555 596 N/A INTRINSIC
low complexity region 599 636 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display postnatal lethality, reduced body size and weight, and retinal rod degeneration followed by cone degeneration. Mice homozygous for an allele lacking the calmodulin-binding domain exhibit defective olfactory neural signaling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Aarsd1 C T 11: 101,302,158 (GRCm39) V301I probably damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Aspa T C 11: 73,199,597 (GRCm39) K227E possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Csn1s2a A G 5: 87,929,746 (GRCm39) Q115R probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mroh9 A G 1: 162,908,122 (GRCm39) probably null Het
Muc5ac G A 7: 141,353,581 (GRCm39) probably null Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pgm5 T A 19: 24,839,021 (GRCm39) I45F probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Sgpp1 A G 12: 75,762,964 (GRCm39) Y406H probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,598 (GRCm39) N75K unknown Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r14 G A 6: 57,211,310 (GRCm39) R252H possibly damaging Het
Wapl T C 14: 34,459,871 (GRCm39) V1013A possibly damaging Het
Zfp37 G A 4: 62,109,933 (GRCm39) T414I probably damaging Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Cngb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Cngb1 APN 8 95,968,812 (GRCm39) splice site probably benign
IGL01575:Cngb1 APN 8 95,991,148 (GRCm39) missense possibly damaging 0.51
IGL02329:Cngb1 APN 8 95,968,987 (GRCm39) missense probably benign 0.14
IGL03332:Cngb1 APN 8 96,025,474 (GRCm39) splice site probably benign
IGL03391:Cngb1 APN 8 96,030,333 (GRCm39) unclassified probably benign
stevie UTSW 8 95,986,758 (GRCm39) missense probably damaging 1.00
swannie UTSW 8 96,023,756 (GRCm39) critical splice acceptor site probably null
R0078:Cngb1 UTSW 8 95,991,173 (GRCm39) critical splice acceptor site probably null
R0116:Cngb1 UTSW 8 95,987,266 (GRCm39) missense probably damaging 1.00
R1073:Cngb1 UTSW 8 96,030,195 (GRCm39) critical splice donor site probably null
R1166:Cngb1 UTSW 8 95,986,809 (GRCm39) missense probably damaging 0.99
R1714:Cngb1 UTSW 8 95,984,559 (GRCm39) missense probably damaging 1.00
R1753:Cngb1 UTSW 8 96,024,401 (GRCm39) critical splice donor site probably benign
R1760:Cngb1 UTSW 8 96,026,328 (GRCm39) missense probably benign 0.03
R1833:Cngb1 UTSW 8 95,968,983 (GRCm39) missense probably damaging 1.00
R1935:Cngb1 UTSW 8 96,026,320 (GRCm39) missense probably damaging 1.00
R1939:Cngb1 UTSW 8 96,026,320 (GRCm39) missense probably damaging 1.00
R1940:Cngb1 UTSW 8 96,026,320 (GRCm39) missense probably damaging 1.00
R2045:Cngb1 UTSW 8 96,023,713 (GRCm39) splice site probably null
R2379:Cngb1 UTSW 8 95,986,758 (GRCm39) missense probably damaging 1.00
R2940:Cngb1 UTSW 8 95,978,735 (GRCm39) missense probably benign 0.44
R4058:Cngb1 UTSW 8 95,994,282 (GRCm39) missense probably benign 0.00
R4425:Cngb1 UTSW 8 96,026,344 (GRCm39) missense probably damaging 1.00
R4585:Cngb1 UTSW 8 96,023,756 (GRCm39) critical splice acceptor site probably null
R4591:Cngb1 UTSW 8 95,980,012 (GRCm39) missense probably damaging 1.00
R4638:Cngb1 UTSW 8 95,992,647 (GRCm39) missense probably damaging 1.00
R4906:Cngb1 UTSW 8 95,978,601 (GRCm39) missense probably damaging 0.96
R4950:Cngb1 UTSW 8 95,975,135 (GRCm39) missense probably damaging 1.00
R4979:Cngb1 UTSW 8 95,985,785 (GRCm39) missense probably damaging 0.99
R5148:Cngb1 UTSW 8 95,992,611 (GRCm39) missense probably benign 0.28
R5474:Cngb1 UTSW 8 95,978,597 (GRCm39) missense probably damaging 1.00
R5475:Cngb1 UTSW 8 95,978,597 (GRCm39) missense probably damaging 1.00
R5545:Cngb1 UTSW 8 95,978,801 (GRCm39) missense
R5585:Cngb1 UTSW 8 95,989,767 (GRCm39) missense probably damaging 1.00
R5637:Cngb1 UTSW 8 95,984,549 (GRCm39) missense probably damaging 1.00
R5785:Cngb1 UTSW 8 95,980,823 (GRCm39) missense possibly damaging 0.90
R5967:Cngb1 UTSW 8 95,978,534 (GRCm39) missense probably damaging 1.00
R6013:Cngb1 UTSW 8 96,010,949 (GRCm39) unclassified probably benign
R6049:Cngb1 UTSW 8 95,997,470 (GRCm39) missense probably damaging 0.99
R6370:Cngb1 UTSW 8 95,991,050 (GRCm39) missense probably benign 0.33
R6377:Cngb1 UTSW 8 95,975,608 (GRCm39) missense probably damaging 1.00
R6401:Cngb1 UTSW 8 96,030,367 (GRCm39) unclassified probably benign
R6427:Cngb1 UTSW 8 96,024,387 (GRCm39) intron probably benign
R6492:Cngb1 UTSW 8 95,991,052 (GRCm39) missense probably benign 0.01
R6613:Cngb1 UTSW 8 95,992,638 (GRCm39) missense possibly damaging 0.95
R6721:Cngb1 UTSW 8 95,997,516 (GRCm39) missense probably benign 0.05
R6919:Cngb1 UTSW 8 95,975,003 (GRCm39) missense probably null 1.00
R7012:Cngb1 UTSW 8 95,984,583 (GRCm39) missense possibly damaging 0.83
R7418:Cngb1 UTSW 8 96,004,887 (GRCm39) nonsense probably null
R7464:Cngb1 UTSW 8 95,980,811 (GRCm39) missense possibly damaging 0.92
R7806:Cngb1 UTSW 8 96,025,432 (GRCm39) critical splice donor site probably null
R8048:Cngb1 UTSW 8 95,989,838 (GRCm39) missense possibly damaging 0.90
R8074:Cngb1 UTSW 8 95,978,801 (GRCm39) missense
R8189:Cngb1 UTSW 8 96,030,248 (GRCm39) unclassified probably benign
R8245:Cngb1 UTSW 8 96,024,408 (GRCm39) missense unknown
R8286:Cngb1 UTSW 8 96,002,252 (GRCm39) missense
R8819:Cngb1 UTSW 8 95,980,037 (GRCm39) critical splice acceptor site probably null
R8906:Cngb1 UTSW 8 95,989,736 (GRCm39) missense probably damaging 1.00
R8979:Cngb1 UTSW 8 96,004,913 (GRCm39) start gained probably benign
R9075:Cngb1 UTSW 8 95,979,993 (GRCm39) missense probably damaging 1.00
R9131:Cngb1 UTSW 8 95,979,893 (GRCm39) missense probably benign 0.02
R9311:Cngb1 UTSW 8 96,010,794 (GRCm39) critical splice donor site probably null
R9375:Cngb1 UTSW 8 96,026,350 (GRCm39) missense unknown
R9745:Cngb1 UTSW 8 95,967,919 (GRCm39) missense unknown
R9773:Cngb1 UTSW 8 95,975,042 (GRCm39) missense probably damaging 1.00
RF010:Cngb1 UTSW 8 96,030,278 (GRCm39) frame shift probably null
RF053:Cngb1 UTSW 8 96,030,276 (GRCm39) frame shift probably null
T0722:Cngb1 UTSW 8 96,024,447 (GRCm39) missense probably damaging 0.99
T0722:Cngb1 UTSW 8 96,023,278 (GRCm39) missense probably benign 0.02
T0722:Cngb1 UTSW 8 96,030,342 (GRCm39) unclassified probably benign
T0722:Cngb1 UTSW 8 96,030,324 (GRCm39) unclassified probably benign
Z1177:Cngb1 UTSW 8 95,978,764 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGGCAAGGATGTGTGGAATC -3'
(R):5'- AGCATACTGGCCTTCTGCAC -3'

Sequencing Primer
(F):5'- AGGATGTGTGGAATCATTTTGGAAAG -3'
(R):5'- CCCAGAGTGTATAAGCAAGTTATATG -3'
Posted On 2015-04-30