Incidental Mutation 'R5414:Cnih1'
ID 427657
Institutional Source Beutler Lab
Gene Symbol Cnih1
Ensembl Gene ENSMUSG00000015759
Gene Name cornichon family AMPA receptor auxiliary protein 1
Synonyms Cnih
MMRRC Submission 042983-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R5414 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 47013024-47025814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47016440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 105 (T105A)
Ref Sequence ENSEMBL: ENSMUSP00000015903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015903] [ENSMUST00000146629]
AlphaFold O35372
Predicted Effect probably benign
Transcript: ENSMUST00000015903
AA Change: T105A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015903
Gene: ENSMUSG00000015759
AA Change: T105A

DomainStartEndE-ValueType
Pfam:Cornichon 1 136 3e-50 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000146629
AA Change: T121A
SMART Domains Protein: ENSMUSP00000116885
Gene: ENSMUSG00000015759
AA Change: T121A

DomainStartEndE-ValueType
Pfam:Cornichon 1 60 7.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227583
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (55/55)
MGI Phenotype PHENOTYPE: The male homozygous mutant mice exhibited a decreased anxiety-like response during open field testing when compared with controls. The male mutants also exhibited decreased body weight, total tissue mass, and lean body mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,205,448 (GRCm39) S278P probably damaging Het
Acan A G 7: 78,750,736 (GRCm39) T1836A probably benign Het
Akr1c18 T A 13: 4,186,734 (GRCm39) D238V probably damaging Het
Akt3 A G 1: 176,877,817 (GRCm39) V317A probably damaging Het
Atp2b2 G A 6: 113,819,102 (GRCm39) P64S probably damaging Het
Atr A G 9: 95,752,757 (GRCm39) N609S probably benign Het
Bcat1 A G 6: 144,961,173 (GRCm39) probably null Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Cd34 A G 1: 194,630,219 (GRCm39) E51G probably benign Het
Celsr3 A G 9: 108,717,241 (GRCm39) E2161G possibly damaging Het
Clec2h G T 6: 128,651,749 (GRCm39) A153S probably benign Het
Coro1c A G 5: 113,986,607 (GRCm39) I279T possibly damaging Het
Ddx11 A G 17: 66,455,763 (GRCm39) T721A probably benign Het
Fbn2 C A 18: 58,226,477 (GRCm39) A766S probably damaging Het
Focad C T 4: 88,328,939 (GRCm39) probably benign Het
Galnt16 A T 12: 80,630,822 (GRCm39) D300V probably damaging Het
Gbp2b T C 3: 142,304,852 (GRCm39) L96P probably damaging Het
Gm10192 T C 4: 97,071,346 (GRCm39) S20G probably null Het
Gm10288 T C 3: 146,544,717 (GRCm39) noncoding transcript Het
Gm4181 C T 14: 51,873,047 (GRCm39) probably null Het
Gm6327 T A 16: 12,578,222 (GRCm39) noncoding transcript Het
Hfm1 A G 5: 107,049,942 (GRCm39) I409T probably damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Ifit1bl1 T A 19: 34,571,324 (GRCm39) I378F probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Krt33b T C 11: 99,920,612 (GRCm39) T14A probably benign Het
Lrch3 T A 16: 32,806,335 (GRCm39) probably null Het
Mycbp2 A T 14: 103,543,697 (GRCm39) L226H probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nploc4 A T 11: 120,304,469 (GRCm39) Y251N probably damaging Het
Or4b12 T C 2: 90,096,046 (GRCm39) T243A probably benign Het
Pdk4 T C 6: 5,485,499 (GRCm39) I397V probably benign Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pgm5 A G 19: 24,686,689 (GRCm39) I506T probably damaging Het
Pgs1 T G 11: 117,905,502 (GRCm39) I499S probably damaging Het
Ppp6r3 A G 19: 3,557,330 (GRCm39) S253P probably damaging Het
Prag1 C G 8: 36,606,776 (GRCm39) P839R probably benign Het
Rin3 C T 12: 102,356,116 (GRCm39) Q806* probably null Het
Ros1 T C 10: 52,031,189 (GRCm39) D484G probably damaging Het
Scamp5 A G 9: 57,354,507 (GRCm39) V49A probably benign Het
Sis C A 3: 72,859,826 (GRCm39) V310L probably benign Het
Svep1 T C 4: 58,206,322 (GRCm39) T19A possibly damaging Het
Tcstv2b A C 13: 120,373,872 (GRCm39) D139E probably damaging Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Thra A G 11: 98,651,783 (GRCm39) I102V probably benign Het
Trim30a A C 7: 104,060,348 (GRCm39) V476G probably damaging Het
Vmn2r3 T A 3: 64,166,978 (GRCm39) R718* probably null Het
Washc4 A G 10: 83,391,967 (GRCm39) T218A possibly damaging Het
Xrcc1 A G 7: 24,269,643 (GRCm39) Y401C probably damaging Het
Zfp629 T C 7: 127,210,454 (GRCm39) T452A probably damaging Het
Other mutations in Cnih1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4812:Cnih1 UTSW 14 47,014,001 (GRCm39) missense probably damaging 0.97
R5728:Cnih1 UTSW 14 47,017,648 (GRCm39) missense probably damaging 0.97
R6280:Cnih1 UTSW 14 47,025,634 (GRCm39) splice site probably null
R7058:Cnih1 UTSW 14 47,017,652 (GRCm39) missense probably damaging 0.97
R7429:Cnih1 UTSW 14 47,017,679 (GRCm39) missense possibly damaging 0.96
R7430:Cnih1 UTSW 14 47,017,679 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCTGACATTGGCTTCATGCTAC -3'
(R):5'- TGATCTGCATGGCTGTTCTC -3'

Sequencing Primer
(F):5'- CATGCTACTTGCTGGCCAGATG -3'
(R):5'- GTTGTATCTGTAAGTAAAAATGTGCC -3'
Posted On 2016-09-01