Incidental Mutation 'IGL02588:Cnih3'
ID 299614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnih3
Ensembl Gene ENSMUSG00000026514
Gene Name cornichon family AMPA receptor auxiliary protein 3
Synonyms 2900075G08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02588
Quality Score
Status
Chromosome 1
Chromosomal Location 181180193-181288206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181237269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 76 (R76G)
Ref Sequence ENSEMBL: ENSMUSP00000148015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027795] [ENSMUST00000161880] [ENSMUST00000162685] [ENSMUST00000209607]
AlphaFold Q6ZWS4
Predicted Effect probably benign
Transcript: ENSMUST00000027795
SMART Domains Protein: ENSMUSP00000027795
Gene: ENSMUSG00000026514

DomainStartEndE-ValueType
Pfam:Cornichon 1 52 6.3e-13 PFAM
Pfam:Cornichon 53 152 1.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161880
AA Change: R76G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124611
Gene: ENSMUSG00000026514
AA Change: R76G

DomainStartEndE-ValueType
Pfam:Cornichon 7 64 7.2e-14 PFAM
Pfam:Cornichon 80 170 4.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162685
SMART Domains Protein: ENSMUSP00000124247
Gene: ENSMUSG00000026514

DomainStartEndE-ValueType
Pfam:Cornichon 1 111 9.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209607
AA Change: R76G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
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
Akap6 G A 12: 52,933,282 (GRCm39) W258* probably null Het
Ankmy2 T C 12: 36,226,685 (GRCm39) probably benign Het
Arhgap26 G T 18: 38,734,670 (GRCm39) probably benign Het
Aspscr1 A G 11: 120,568,357 (GRCm39) D60G possibly damaging Het
Cdh15 C A 8: 123,583,291 (GRCm39) Y31* probably null Het
Cplx1 C A 5: 108,673,289 (GRCm39) R44L possibly damaging Het
Dhx57 T A 17: 80,576,300 (GRCm39) I597F probably damaging Het
Dnah17 G T 11: 117,916,479 (GRCm39) F4231L possibly damaging Het
Dst T G 1: 34,156,565 (GRCm39) L173R probably damaging Het
Fezf2 A T 14: 12,343,687 (GRCm38) Y353N probably damaging Het
Ghrhr T A 6: 55,360,395 (GRCm39) L247Q probably damaging Het
Gm10912 C T 2: 103,897,197 (GRCm39) probably benign Het
Gpcpd1 A T 2: 132,376,673 (GRCm39) L541H probably damaging Het
Gpld1 C T 13: 25,127,682 (GRCm39) T28I probably damaging Het
Lmf2 A T 15: 89,239,609 (GRCm39) probably null Het
Lratd2 T C 15: 60,694,999 (GRCm39) D249G probably damaging Het
Mex3c A G 18: 73,723,116 (GRCm39) N403S probably damaging Het
Nlrp1b A T 11: 71,073,105 (GRCm39) L246* probably null Het
Nlrp2 A T 7: 5,330,551 (GRCm39) L615* probably null Het
Nlrp4c A T 7: 6,087,647 (GRCm39) D760V probably benign Het
Nlrp4g T C 9: 124,348,843 (GRCm38) noncoding transcript Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Nuggc T A 14: 65,855,226 (GRCm39) probably benign Het
Or4c122 T C 2: 89,080,042 (GRCm39) probably benign Het
Or52d1 C T 7: 103,756,260 (GRCm39) T258I possibly damaging Het
Papolg T A 11: 23,840,252 (GRCm39) I75F probably damaging Het
Pcdhgc5 A G 18: 37,955,003 (GRCm39) Y759C probably damaging Het
Pdp2 A G 8: 105,321,536 (GRCm39) K462E possibly damaging Het
Plod1 A T 4: 147,997,747 (GRCm39) L654* probably null Het
Ppp4r3b G T 11: 29,148,853 (GRCm39) G25* probably null Het
Ptch1 T C 13: 63,659,732 (GRCm39) D1307G probably benign Het
Ranbp17 A G 11: 33,167,361 (GRCm39) V1034A probably benign Het
Rbl2 T A 8: 91,813,712 (GRCm39) L319Q probably damaging Het
Retnlg A G 16: 48,693,255 (GRCm39) T11A probably benign Het
Rfc3 A T 5: 151,566,381 (GRCm39) F356Y possibly damaging Het
Rnf213 G T 11: 119,307,362 (GRCm39) C674F probably benign Het
Shcbp1l A G 1: 153,304,411 (GRCm39) K157E probably benign Het
Slc22a17 A G 14: 55,145,451 (GRCm39) C233R probably damaging Het
Slc38a9 A G 13: 112,834,511 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
St14 C A 9: 31,001,329 (GRCm39) probably benign Het
Sympk G A 7: 18,776,550 (GRCm39) V481M probably benign Het
Timeless T A 10: 128,079,203 (GRCm39) L350Q probably damaging Het
Tnfrsf1a A G 6: 125,337,729 (GRCm39) I229V probably benign Het
Ugt3a1 A T 15: 9,361,542 (GRCm39) H106L probably benign Het
Zbtb45 A T 7: 12,740,204 (GRCm39) C470* probably null 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
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
R7926:Cnih3 UTSW 1 181,277,566 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16