Incidental Mutation 'R0012:Chrna10'
ID 8098
Institutional Source Beutler Lab
Gene Symbol Chrna10
Ensembl Gene ENSMUSG00000066279
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 10
Synonyms
MMRRC Submission 038307-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R0012 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 101760473-101766035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101764264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 40 (N40S)
Ref Sequence ENSEMBL: ENSMUSP00000081891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084830] [ENSMUST00000209809] [ENSMUST00000210211] [ENSMUST00000210682] [ENSMUST00000211408]
AlphaFold B2RX82
Predicted Effect probably benign
Transcript: ENSMUST00000033300
SMART Domains Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ART 39 269 2e-99 PFAM
low complexity region 288 313 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000084830
AA Change: N40S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081891
Gene: ENSMUSG00000066279
AA Change: N40S

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:Neur_chan_LBD 30 236 1.5e-67 PFAM
Pfam:Neur_chan_memb 243 384 9.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209809
Predicted Effect probably benign
Transcript: ENSMUST00000210211
Predicted Effect probably benign
Transcript: ENSMUST00000210682
Predicted Effect possibly damaging
Transcript: ENSMUST00000211408
AA Change: N40S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.0857 question?
Coding Region Coverage
  • 1x: 78.7%
  • 3x: 69.0%
  • 10x: 44.7%
  • 20x: 26.0%
Validation Efficiency 91% (95/104)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in impaired synaptic function and integrity of the olivocochlear system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 A G 5: 139,293,489 (GRCm39) probably benign Het
Bnip3 A G 7: 138,500,401 (GRCm39) probably benign Het
Brwd1 A C 16: 95,860,852 (GRCm39) S311R probably damaging Het
C2cd3 G A 7: 100,067,729 (GRCm39) V871M possibly damaging Het
Chd2 G T 7: 73,105,267 (GRCm39) T192K probably damaging Het
Copb1 T A 7: 113,836,643 (GRCm39) K366N probably damaging Het
Dpysl4 T G 7: 138,677,799 (GRCm39) I412S probably benign Het
Fat2 A G 11: 55,153,697 (GRCm39) V3505A probably benign Het
Fbxo24 A G 5: 137,620,256 (GRCm39) F101S probably damaging Het
Gcnt3 T C 9: 69,941,367 (GRCm39) I400M probably benign Het
Gm2962 T A 1: 170,752,908 (GRCm39) probably benign Het
Gsap T A 5: 21,431,227 (GRCm39) probably benign Het
Hipk1 A G 3: 103,670,996 (GRCm39) M467T probably damaging Het
Hmgb4 T A 4: 128,154,518 (GRCm39) I17F probably damaging Het
Ints15 A G 5: 143,299,937 (GRCm39) L137P probably damaging Het
Kif17 T G 4: 138,021,059 (GRCm39) S606A probably damaging Het
Lypd4 A G 7: 24,564,757 (GRCm39) L127P probably damaging Het
Lyst A G 13: 13,862,279 (GRCm39) H2605R probably benign Het
Map3k4 A G 17: 12,457,076 (GRCm39) S1289P probably damaging Het
Mob1b G A 5: 88,903,943 (GRCm39) probably benign Het
Mthfd2l A T 5: 91,109,242 (GRCm39) H224L probably damaging Het
Nectin2 T C 7: 19,464,669 (GRCm39) probably benign Het
Rae1 T A 2: 172,844,466 (GRCm39) F4I unknown Het
Ralgapa2 A G 2: 146,254,672 (GRCm39) Y821H probably benign Het
Sharpin G T 15: 76,232,543 (GRCm39) P156T possibly damaging Het
Slc38a4 C T 15: 96,897,510 (GRCm39) R435H probably damaging Het
Snrnp200 T C 2: 127,070,469 (GRCm39) V1061A probably benign Het
Suclg1 A G 6: 73,247,980 (GRCm39) T234A possibly damaging Het
Tet2 T C 3: 133,182,319 (GRCm39) Y1215C probably damaging Het
Tjp1 A G 7: 64,979,523 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,589,176 (GRCm39) E58G probably damaging Het
Trp53bp2 T A 1: 182,272,283 (GRCm39) M464K probably damaging Het
Trpm1 A G 7: 63,918,339 (GRCm39) S560G possibly damaging Het
Unc80 T C 1: 66,546,550 (GRCm39) S541P probably damaging Het
Ushbp1 T C 8: 71,847,684 (GRCm39) probably benign Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A probably benign Het
Other mutations in Chrna10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Chrna10 APN 7 101,761,615 (GRCm39) nonsense probably null
IGL02313:Chrna10 APN 7 101,761,236 (GRCm39) unclassified probably benign
IGL02814:Chrna10 APN 7 101,761,469 (GRCm39) missense probably benign 0.00
R0012:Chrna10 UTSW 7 101,764,264 (GRCm39) missense possibly damaging 0.71
R1464:Chrna10 UTSW 7 101,763,454 (GRCm39) missense probably damaging 1.00
R1464:Chrna10 UTSW 7 101,763,454 (GRCm39) missense probably damaging 1.00
R2567:Chrna10 UTSW 7 101,761,276 (GRCm39) missense probably benign 0.16
R3774:Chrna10 UTSW 7 101,763,535 (GRCm39) missense probably benign 0.00
R4707:Chrna10 UTSW 7 101,762,426 (GRCm39) missense possibly damaging 0.83
R4742:Chrna10 UTSW 7 101,762,344 (GRCm39) missense probably damaging 1.00
R4784:Chrna10 UTSW 7 101,762,426 (GRCm39) missense possibly damaging 0.83
R4785:Chrna10 UTSW 7 101,762,426 (GRCm39) missense possibly damaging 0.83
R5384:Chrna10 UTSW 7 101,763,560 (GRCm39) missense probably damaging 0.97
R6355:Chrna10 UTSW 7 101,762,292 (GRCm39) critical splice donor site probably null
R7215:Chrna10 UTSW 7 101,761,415 (GRCm39) missense possibly damaging 0.95
R7253:Chrna10 UTSW 7 101,761,293 (GRCm39) missense probably benign 0.00
R8368:Chrna10 UTSW 7 101,764,223 (GRCm39) missense probably benign
R9489:Chrna10 UTSW 7 101,762,801 (GRCm39) missense probably benign 0.00
R9660:Chrna10 UTSW 7 101,761,416 (GRCm39) missense probably benign 0.00
Z1177:Chrna10 UTSW 7 101,764,194 (GRCm39) missense possibly damaging 0.96
Z1177:Chrna10 UTSW 7 101,762,471 (GRCm39) missense probably benign 0.13
Posted On 2012-11-20