Incidental Mutation 'R3975:Ceacam16'
ID 312600
Institutional Source Beutler Lab
Gene Symbol Ceacam16
Ensembl Gene ENSMUSG00000014686
Gene Name carcinoembryonic antigen-related cell adhesion molecule 16
Synonyms LOC330483
MMRRC Submission 040939-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3975 (G1)
Quality Score 200
Status Validated
Chromosome 7
Chromosomal Location 19852097-19861299 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 19853612 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 410 (Q410H)
Ref Sequence ENSEMBL: ENSMUSP00000014830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014830] [ENSMUST00000172815] [ENSMUST00000208198]
AlphaFold E9QA28
Predicted Effect probably damaging
Transcript: ENSMUST00000014830
AA Change: Q410H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000014830
Gene: ENSMUSG00000014686
AA Change: Q410H

signal peptide 1 22 N/A INTRINSIC
IG 28 129 4.04e0 SMART
IG 140 221 2.5e-4 SMART
IGc2 244 301 4.43e-5 SMART
IG 324 423 1.12e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172815
Predicted Effect probably benign
Transcript: ENSMUST00000208198
Meta Mutation Damage Score 0.2095 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 95% (59/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired hearing at low and high frequencies. Mice homozygous for a different knock-out allele show altered tectorial membrane structure and enhanced spontaneous, stimulus-frequency, and transiently evoked otoacoustic emissions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T A 1: 63,547,729 (GRCm38) Y416* probably null Het
Akr1b10 G T 6: 34,392,496 (GRCm38) probably null Het
Arap2 G T 5: 62,748,894 (GRCm38) P261T possibly damaging Het
Bckdha C A 7: 25,631,433 (GRCm38) D53Y probably damaging Het
Bfsp2 A G 9: 103,480,072 (GRCm38) V52A probably benign Het
Bola3 T C 6: 83,351,267 (GRCm38) L45P probably benign Het
Cacna2d4 A G 6: 119,278,173 (GRCm38) probably null Het
Cenpe A G 3: 135,235,225 (GRCm38) probably null Het
Cenpe T C 3: 135,238,472 (GRCm38) probably null Het
Clca1 A T 3: 145,032,639 (GRCm38) V36D probably damaging Het
Copa T A 1: 172,121,245 (GRCm38) S1155T probably benign Het
Crb2 C A 2: 37,793,668 (GRCm38) P1061T possibly damaging Het
Crot T C 5: 8,977,541 (GRCm38) T264A probably benign Het
Cyp51 C T 5: 4,091,877 (GRCm38) G346S probably damaging Het
Dnah6 A G 6: 73,121,992 (GRCm38) S2027P possibly damaging Het
Fam129a T C 1: 151,649,335 (GRCm38) Y164H probably damaging Het
Fbxo18 T C 2: 11,767,210 (GRCm38) H220R possibly damaging Het
Gdf2 T A 14: 33,944,834 (GRCm38) V171D probably damaging Het
Gm9825 A T 6: 7,983,149 (GRCm38) noncoding transcript Het
Golgb1 T G 16: 36,918,571 (GRCm38) V2424G probably damaging Het
Gpbp1l1 T C 4: 116,570,985 (GRCm38) probably null Het
Gpx6 C A 13: 21,317,658 (GRCm38) S150Y probably damaging Het
Greb1l A G 18: 10,522,247 (GRCm38) N672S possibly damaging Het
Kcnma1 C T 14: 24,003,747 (GRCm38) probably null Het
Lrba T C 3: 86,351,255 (GRCm38) F1350L probably damaging Het
Nat8f4 A G 6: 85,901,070 (GRCm38) V157A possibly damaging Het
Nt5dc2 T C 14: 31,138,875 (GRCm38) S439P probably damaging Het
Olfr1090 T A 2: 86,754,543 (GRCm38) H65L probably damaging Het
Olfr134 A G 17: 38,175,495 (GRCm38) N137S probably benign Het
Olfr141 G A 2: 86,806,460 (GRCm38) P180S possibly damaging Het
Olfr693 T C 7: 106,677,785 (GRCm38) R234G probably damaging Het
Orm3 A T 4: 63,356,158 (GRCm38) probably null Het
Otof A G 5: 30,370,712 (GRCm38) L1929P probably damaging Het
Pex5l C A 3: 33,015,015 (GRCm38) C111F probably damaging Het
Plcl1 T A 1: 55,698,215 (GRCm38) M905K probably benign Het
Prdm6 T C 18: 53,540,206 (GRCm38) I186T possibly damaging Het
Rara T G 11: 98,970,569 (GRCm38) I236S probably damaging Het
Reln A T 5: 21,995,366 (GRCm38) S1379T possibly damaging Het
Rp1l1 T A 14: 64,030,309 (GRCm38) Y1115N probably damaging Het
Rpe65 A T 3: 159,604,585 (GRCm38) N135I probably damaging Het
Rps6 A G 4: 86,856,813 (GRCm38) V18A probably benign Het
Scrn3 T C 2: 73,335,777 (GRCm38) S385P possibly damaging Het
Sis T C 3: 72,943,635 (GRCm38) T577A probably damaging Het
Slx1b G A 7: 126,691,807 (GRCm38) L239F probably damaging Het
Smad4 G T 18: 73,677,736 (GRCm38) T59K possibly damaging Het
Smad6 A G 9: 64,020,930 (GRCm38) V32A probably benign Het
Smc6 T A 12: 11,274,074 (GRCm38) F73L probably damaging Het
Sorbs2 T C 8: 45,772,710 (GRCm38) probably null Het
Svbp T A 4: 119,195,893 (GRCm38) F32I probably benign Het
Tap1 C A 17: 34,189,567 (GRCm38) probably benign Het
Tesk1 C T 4: 43,445,786 (GRCm38) P280S possibly damaging Het
Thrb A G 14: 18,033,456 (GRCm38) I406M probably damaging Het
Tsc22d1 T C 14: 76,418,609 (GRCm38) S761P probably damaging Het
Ttn T C 2: 76,876,653 (GRCm38) probably benign Het
Umodl1 C A 17: 30,984,789 (GRCm38) Y525* probably null Het
Vmn2r70 C T 7: 85,559,332 (GRCm38) V646I probably benign Het
Wipf1 C T 2: 73,437,169 (GRCm38) G295D probably benign Het
Wisp3 C G 10: 39,155,098 (GRCm38) C143S probably damaging Het
Zim1 A T 7: 6,677,130 (GRCm38) H511Q probably damaging Het
Other mutations in Ceacam16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Ceacam16 APN 7 19,861,129 (GRCm38) missense probably benign
IGL02643:Ceacam16 APN 7 19,861,161 (GRCm38) unclassified probably benign
BB006:Ceacam16 UTSW 7 19,853,631 (GRCm38) missense probably damaging 1.00
BB016:Ceacam16 UTSW 7 19,853,631 (GRCm38) missense probably damaging 1.00
R1793:Ceacam16 UTSW 7 19,856,116 (GRCm38) missense probably damaging 1.00
R1830:Ceacam16 UTSW 7 19,858,878 (GRCm38) missense possibly damaging 0.90
R2153:Ceacam16 UTSW 7 19,861,141 (GRCm38) missense probably benign
R3980:Ceacam16 UTSW 7 19,858,633 (GRCm38) missense probably benign
R4433:Ceacam16 UTSW 7 19,853,589 (GRCm38) missense possibly damaging 0.65
R4634:Ceacam16 UTSW 7 19,858,606 (GRCm38) missense probably benign
R5839:Ceacam16 UTSW 7 19,856,083 (GRCm38) nonsense probably null
R5973:Ceacam16 UTSW 7 19,856,337 (GRCm38) missense probably damaging 1.00
R6167:Ceacam16 UTSW 7 19,861,257 (GRCm38) unclassified probably benign
R6969:Ceacam16 UTSW 7 19,852,305 (GRCm38) makesense probably null
R7648:Ceacam16 UTSW 7 19,852,278 (GRCm38) missense unknown
R7929:Ceacam16 UTSW 7 19,853,631 (GRCm38) missense probably damaging 1.00
R8506:Ceacam16 UTSW 7 19,852,270 (GRCm38) missense unknown
R8878:Ceacam16 UTSW 7 19,858,731 (GRCm38) missense possibly damaging 0.96
R9583:Ceacam16 UTSW 7 19,853,878 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-30