Incidental Mutation 'IGL02391:Cnih3'
ID 293841
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
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02391
Quality Score
Status
Chromosome 1
Chromosomal Location 181352628-181460641 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181406513 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 43 (D43G)
Ref Sequence ENSEMBL: ENSMUSP00000124247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027795] [ENSMUST00000161880] [ENSMUST00000162685] [ENSMUST00000209607]
AlphaFold Q6ZWS4
Predicted Effect probably damaging
Transcript: ENSMUST00000027795
AA Change: D43G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027795
Gene: ENSMUSG00000026514
AA Change: D43G

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: D43G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124611
Gene: ENSMUSG00000026514
AA Change: D43G

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: D43G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124247
Gene: ENSMUSG00000026514
AA Change: D43G

DomainStartEndE-ValueType
Pfam:Cornichon 1 111 9.5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209607
AA Change: D43G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,553,352 N748Y probably damaging Het
Actbl2 A G 13: 111,255,167 D12G possibly damaging Het
Adamts10 T C 17: 33,528,811 S74P probably benign Het
Adprhl2 C T 4: 126,317,908 probably benign Het
Amn1 A G 6: 149,169,446 probably null Het
Antxr1 A T 6: 87,287,056 I144N probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cabp5 A T 7: 13,398,344 R13* probably null Het
Cacna1e A G 1: 154,421,113 Y1669H probably damaging Het
Ccdc174 A G 6: 91,898,282 E364G possibly damaging Het
Ccdc18 C T 5: 108,136,052 P74S probably damaging Het
Clec3a C T 8: 114,425,500 S82L probably benign Het
Dpp10 G A 1: 123,650,358 T128M probably damaging Het
Edar A T 10: 58,628,581 F79I probably damaging Het
Eif2ak4 T A 2: 118,420,791 H199Q probably benign Het
Fermt1 A G 2: 132,941,951 L46P probably damaging Het
Glipr1 A G 10: 111,988,894 probably benign Het
Gsdmc T C 15: 63,803,579 N129S probably damaging Het
Ift88 T C 14: 57,481,414 S619P possibly damaging Het
Itga9 T A 9: 118,850,805 V262E probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mta1 T A 12: 113,136,583 I688N possibly damaging Het
Muc4 A T 16: 32,752,076 R651S probably benign Het
Olfr109 C T 17: 37,466,586 P127S probably damaging Het
Olfr1342 A G 4: 118,690,341 L37P probably damaging Het
Olfr824 A G 10: 130,126,904 V51A possibly damaging Het
Opcml A G 9: 28,675,264 I93V probably damaging Het
Parg T G 14: 32,262,681 probably null Het
Rps3a3 A G 13: 108,670,883 probably benign Het
Safb T A 17: 56,600,813 probably benign Het
Sat2 G T 11: 69,622,749 C54F probably damaging Het
Scin T A 12: 40,077,531 Y420F probably benign Het
Slc22a29 A T 19: 8,169,353 S362T probably benign Het
Smchd1 T C 17: 71,431,259 D537G probably null Het
Spred3 A G 7: 29,166,405 S126P probably benign Het
Ssh1 C T 5: 113,942,517 E951K probably damaging Het
Ssmem1 A G 6: 30,512,442 E28G possibly damaging Het
Stox1 A T 10: 62,659,676 probably benign Het
Syn3 T C 10: 86,064,906 I373V probably benign Het
Tecrl A T 5: 83,354,827 F58L probably benign Het
Trp53bp1 T C 2: 121,202,710 N1655S possibly damaging Het
Usp2 G T 9: 44,091,227 Q147H probably damaging Het
Usp24 T A 4: 106,407,129 N1751K possibly damaging Het
Wipf1 T A 2: 73,434,143 D438V probably damaging Het
Other mutations in Cnih3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02132:Cnih3 APN 1 181454709 nonsense probably null
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