Incidental Mutation 'IGL02132:Cnih3'
ID 281051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnih3
Ensembl Gene ENSMUSG00000026514
Gene Name cornichon family AMPA receptor auxiliary protein 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02132
Quality Score
Status
Chromosome 1
Chromosomal Location 181352628-181460641 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 181454709 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 169 (Y169*)
Ref Sequence ENSEMBL: ENSMUSP00000148015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027795] [ENSMUST00000161880] [ENSMUST00000162685] [ENSMUST00000209607]
AlphaFold Q6ZWS4
Predicted Effect probably null
Transcript: ENSMUST00000027795
AA Change: Y142*
SMART Domains Protein: ENSMUSP00000027795
Gene: ENSMUSG00000026514
AA Change: Y142*

DomainStartEndE-ValueType
Pfam:Cornichon 1 52 6.3e-13 PFAM
Pfam:Cornichon 53 152 1.3e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161880
AA Change: Y161*
SMART Domains Protein: ENSMUSP00000124611
Gene: ENSMUSG00000026514
AA Change: Y161*

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 null
Transcript: ENSMUST00000209607
AA Change: Y169*
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G A 10: 120,778,730 probably benign Het
4930432E11Rik C T 7: 29,563,279 noncoding transcript Het
Adcy10 T C 1: 165,572,543 V1507A probably damaging Het
Ap3b2 T A 7: 81,460,998 M1010L unknown Het
Bmp10 T C 6: 87,434,148 S308P probably benign Het
Cpsf4l A G 11: 113,699,859 S222P possibly damaging Het
Cyp2d10 G A 15: 82,404,607 probably benign Het
Dcstamp A T 15: 39,754,532 E112D probably damaging Het
Fras1 C T 5: 96,781,637 Q3967* probably null Het
Gcm1 C A 9: 78,064,839 P354H possibly damaging Het
Gen1 A G 12: 11,241,866 S706P probably benign Het
Glb1l3 G T 9: 26,825,170 T532N probably benign Het
Gm5069 T A 1: 180,327,307 probably benign Het
Gzmc A C 14: 56,233,965 F40V probably benign Het
Itgb2 G T 10: 77,550,061 C286F probably damaging Het
Jak3 A G 8: 71,678,480 Y48C probably damaging Het
Lrp2 G A 2: 69,537,616 S184L probably benign Het
Myo1f T A 17: 33,579,971 N203K probably benign Het
Nrxn2 G A 19: 6,472,276 G182R probably damaging Het
Olfr1000 A C 2: 85,608,320 L197V probably benign Het
Olfr1208 A G 2: 88,897,159 V146A probably benign Het
Olfr726 T C 14: 50,084,486 N65S probably damaging Het
Otog C T 7: 46,305,479 S2692L probably damaging Het
Pde9a C T 17: 31,453,470 T34I probably benign Het
Phip T C 9: 82,881,341 T1295A possibly damaging Het
Pik3cb A G 9: 99,071,377 V451A probably benign Het
Psd2 T G 18: 36,004,756 probably benign Het
Pycr2 T C 1: 180,906,197 I118T probably damaging Het
Rnf17 T G 14: 56,421,166 M104R probably benign Het
Rp1l1 T C 14: 64,028,810 V615A probably benign Het
Sel1l3 T A 5: 53,170,405 R511W possibly damaging Het
Sis T C 3: 72,947,471 N478D probably benign Het
Trps1 T A 15: 50,822,278 S584C probably damaging Het
Vmn2r124 T C 17: 18,064,229 probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Zc3h13 T C 14: 75,330,347 S1027P probably benign Het
Zfp644 A T 5: 106,635,894 I929K probably benign Het
Other mutations in Cnih3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02391:Cnih3 APN 1 181406513 missense probably damaging 1.00
IGL02588:Cnih3 APN 1 181409704 missense probably benign
mazola UTSW 1 181454621 nonsense probably null
tassel UTSW 1 181409872 intron probably benign
BB003:Cnih3 UTSW 1 181450001 missense probably damaging 1.00
BB013:Cnih3 UTSW 1 181450001 missense probably damaging 1.00
R0119:Cnih3 UTSW 1 181454744 splice site probably benign
R0550:Cnih3 UTSW 1 181406477 frame shift probably null
R1853:Cnih3 UTSW 1 181454621 nonsense probably null
R1854:Cnih3 UTSW 1 181454621 nonsense probably null
R1855:Cnih3 UTSW 1 181454621 nonsense probably null
R1857:Cnih3 UTSW 1 181450073 missense probably damaging 0.98
R7926:Cnih3 UTSW 1 181450001 missense probably damaging 1.00
R8885:Cnih3 UTSW 1 181409872 intron probably benign
R9325:Cnih3 UTSW 1 181353507 critical splice donor site probably null
R9428:Cnih3 UTSW 1 181353292 unclassified probably benign
Posted On 2015-04-16