Incidental Mutation 'R7926:Cnih3'
ID 643310
Institutional Source Beutler Lab
Gene Symbol Cnih3
Ensembl Gene ENSMUSG00000026514
Gene Name cornichon family AMPA receptor auxiliary protein 3
Synonyms 2900075G08Rik
MMRRC Submission 045973-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7926 (G1)
Quality Score 999
Status Not validated
Chromosome 1
Chromosomal Location 181180193-181288206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181277566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 96 (L96P)
Ref Sequence ENSEMBL: ENSMUSP00000124611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027795] [ENSMUST00000161880] [ENSMUST00000162685] [ENSMUST00000209607]
AlphaFold Q6ZWS4
Predicted Effect probably damaging
Transcript: ENSMUST00000027795
AA Change: L77P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027795
Gene: ENSMUSG00000026514
AA Change: L77P

DomainStartEndE-ValueType
Pfam:Cornichon 1 52 6.3e-13 PFAM
Pfam:Cornichon 53 152 1.3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161880
AA Change: L96P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124611
Gene: ENSMUSG00000026514
AA Change: L96P

DomainStartEndE-ValueType
Pfam:Cornichon 7 64 7.2e-14 PFAM
Pfam:Cornichon 80 170 4.9e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162685
AA Change: L77P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124247
Gene: ENSMUSG00000026514
AA Change: L77P

DomainStartEndE-ValueType
Pfam:Cornichon 1 111 9.5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209607
AA Change: L104P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele activated in neurons exhibti normal AMPAR- and NMDAR-evoked excitatory postsynaptic currentsAMPAR- and NMDAR-evoked excitatory postsynaptic currents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
BC016579 C A 16: 45,449,825 (GRCm39) D198Y probably damaging Het
Cep170 A G 1: 176,588,979 (GRCm39) S549P probably damaging Het
Cnn2 T A 10: 79,829,160 (GRCm39) L168Q probably damaging Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Cnot10 A G 9: 114,446,883 (GRCm39) C398R probably damaging Het
Dcaf4 C A 12: 83,580,703 (GRCm39) Y212* probably null Het
Dmxl2 T C 9: 54,335,326 (GRCm39) T665A probably benign Het
Dnmt1 C A 9: 20,818,855 (GRCm39) A1609S unknown Het
Dzip1 T C 14: 119,120,911 (GRCm39) D682G probably benign Het
Fam76a A G 4: 132,629,405 (GRCm39) L249P probably damaging Het
Fgf10 T C 13: 118,925,752 (GRCm39) M177T probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Hoxa13 CG CGAG 6: 52,237,619 (GRCm39) probably null Het
Itln1 G A 1: 171,359,261 (GRCm39) T73I probably benign Het
Jkamp T C 12: 72,141,590 (GRCm39) Y197H probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lcor T C 19: 41,571,008 (GRCm39) F67S probably benign Het
Lmf2 G A 15: 89,236,624 (GRCm39) P514L probably damaging Het
Lmntd2 G T 7: 140,790,258 (GRCm39) P610Q probably damaging Het
Map3k3 T C 11: 106,036,548 (GRCm39) S225P probably damaging Het
Mbd5 T C 2: 49,146,335 (GRCm39) Y182H probably damaging Het
Mki67 A G 7: 135,298,869 (GRCm39) V2055A possibly damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myh8 C T 11: 67,169,732 (GRCm39) P17L possibly damaging Het
Myt1l T A 12: 29,861,651 (GRCm39) D144E unknown Het
Nfatc1 T C 18: 80,740,881 (GRCm39) Y373C probably damaging Het
Pacs2 C T 12: 113,024,372 (GRCm39) L418F probably damaging Het
Paxip1 A G 5: 27,996,207 (GRCm39) I24T unknown Het
Pdcl C T 2: 37,242,249 (GRCm39) G167E probably damaging Het
Pdcl A C 2: 37,242,251 (GRCm39) S166R probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Qsox1 C T 1: 155,688,533 (GRCm39) G5S unknown Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sass6 T A 3: 116,422,419 (GRCm39) S641T possibly damaging Het
Six1 T C 12: 73,090,583 (GRCm39) N194S probably benign Het
Tagap T C 17: 8,145,770 (GRCm39) probably null Het
Tiparp T C 3: 65,460,946 (GRCm39) V645A possibly damaging Het
Tm2d2 T C 8: 25,510,480 (GRCm39) V113A probably damaging Het
Tmprss6 C A 15: 78,337,050 (GRCm39) R352L probably benign Het
Tslp A G 18: 32,950,246 (GRCm39) E105G possibly damaging Het
Ttc41 A G 10: 86,611,911 (GRCm39) E1093G probably benign Het
Ush2a G A 1: 188,460,797 (GRCm39) R2686H probably benign Het
Usp54 A T 14: 20,627,036 (GRCm39) Y541N probably damaging Het
Vmn2r125 A G 4: 156,702,988 (GRCm39) D122G probably damaging Het
Other mutations in Cnih3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02132:Cnih3 APN 1 181,282,274 (GRCm39) nonsense probably null
IGL02391:Cnih3 APN 1 181,234,078 (GRCm39) missense probably damaging 1.00
IGL02588:Cnih3 APN 1 181,237,269 (GRCm39) missense probably benign
mazola UTSW 1 181,282,186 (GRCm39) nonsense probably null
tassel UTSW 1 181,237,437 (GRCm39) intron probably benign
BB003:Cnih3 UTSW 1 181,277,566 (GRCm39) missense probably damaging 1.00
BB013:Cnih3 UTSW 1 181,277,566 (GRCm39) missense probably damaging 1.00
R0119:Cnih3 UTSW 1 181,282,309 (GRCm39) splice site probably benign
R0550:Cnih3 UTSW 1 181,234,042 (GRCm39) frame shift probably null
R1853:Cnih3 UTSW 1 181,282,186 (GRCm39) nonsense probably null
R1854:Cnih3 UTSW 1 181,282,186 (GRCm39) nonsense probably null
R1855:Cnih3 UTSW 1 181,282,186 (GRCm39) nonsense probably null
R1857:Cnih3 UTSW 1 181,277,638 (GRCm39) missense probably damaging 0.98
R8885:Cnih3 UTSW 1 181,237,437 (GRCm39) intron probably benign
R9325:Cnih3 UTSW 1 181,181,072 (GRCm39) critical splice donor site probably null
R9428:Cnih3 UTSW 1 181,180,857 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGATGCTAGGCAACCTCCTC -3'
(R):5'- GAACACGGTTTCTTTACAAGGGG -3'

Sequencing Primer
(F):5'- CTACTCTGGGTTGGGTCTAAAAC -3'
(R):5'- CGGTTTCTTTACAAGGGGATAAAAG -3'
Posted On 2020-08-07