Incidental Mutation 'R0012:Chrna10'
ID8098
Institutional Source Beutler Lab
Gene Symbol Chrna10
Ensembl Gene ENSMUSG00000066279
Gene Namecholinergic receptor, nicotinic, alpha polypeptide 10
Synonyms
MMRRC Submission 038307-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #R0012 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location102111266-102116828 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102115057 bp
ZygosityHeterozygous
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]
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: 139,307,734 probably benign Het
Bnip3 A G 7: 138,898,672 probably benign Het
Brwd1 A C 16: 96,059,652 S311R probably damaging Het
C2cd3 G A 7: 100,418,522 V871M possibly damaging Het
Chd2 G T 7: 73,455,519 T192K probably damaging Het
Copb1 T A 7: 114,237,408 K366N probably damaging Het
Dpysl4 T G 7: 139,097,883 I412S probably benign Het
E130309D02Rik A G 5: 143,314,182 L137P probably damaging Het
Fat2 A G 11: 55,262,871 V3505A probably benign Het
Fbxo24 A G 5: 137,621,994 F101S probably damaging Het
Gcnt3 T C 9: 70,034,085 I400M probably benign Het
Gm2962 T A 1: 170,925,339 probably benign Het
Gsap T A 5: 21,226,229 probably benign Het
Hipk1 A G 3: 103,763,680 M467T probably damaging Het
Hmgb4 T A 4: 128,260,725 I17F probably damaging Het
Kif17 T G 4: 138,293,748 S606A probably damaging Het
Lypd4 A G 7: 24,865,332 L127P probably damaging Het
Lyst A G 13: 13,687,694 H2605R probably benign Het
Map3k4 A G 17: 12,238,189 S1289P probably damaging Het
Mob1b G A 5: 88,756,084 probably benign Het
Mthfd2l A T 5: 90,961,383 H224L probably damaging Het
Nectin2 T C 7: 19,730,744 probably benign Het
Rae1 T A 2: 173,002,673 F4I unknown Het
Ralgapa2 A G 2: 146,412,752 Y821H probably benign Het
Sharpin G T 15: 76,348,343 P156T possibly damaging Het
Slc38a4 C T 15: 96,999,629 R435H probably damaging Het
Snrnp200 T C 2: 127,228,549 V1061A probably benign Het
Suclg1 A G 6: 73,270,997 T234A possibly damaging Het
Tet2 T C 3: 133,476,558 Y1215C probably damaging Het
Tjp1 A G 7: 65,329,775 probably benign Het
Tnpo3 T C 6: 29,589,177 E58G probably damaging Het
Trp53bp2 T A 1: 182,444,718 M464K probably damaging Het
Trpm1 A G 7: 64,268,591 S560G possibly damaging Het
Unc80 T C 1: 66,507,391 S541P probably damaging Het
Ushbp1 T C 8: 71,395,040 probably benign Het
Zfp644 T G 5: 106,635,043 E1155A probably benign Het
Other mutations in Chrna10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Chrna10 APN 7 102112408 nonsense probably null
IGL02313:Chrna10 APN 7 102112029 unclassified probably benign
IGL02814:Chrna10 APN 7 102112262 missense probably benign 0.00
R0012:Chrna10 UTSW 7 102115057 missense possibly damaging 0.71
R1464:Chrna10 UTSW 7 102114247 missense probably damaging 1.00
R1464:Chrna10 UTSW 7 102114247 missense probably damaging 1.00
R2567:Chrna10 UTSW 7 102112069 missense probably benign 0.16
R3774:Chrna10 UTSW 7 102114328 missense probably benign 0.00
R4707:Chrna10 UTSW 7 102113219 missense possibly damaging 0.83
R4742:Chrna10 UTSW 7 102113137 missense probably damaging 1.00
R4784:Chrna10 UTSW 7 102113219 missense possibly damaging 0.83
R4785:Chrna10 UTSW 7 102113219 missense possibly damaging 0.83
R5384:Chrna10 UTSW 7 102114353 missense probably damaging 0.97
R6355:Chrna10 UTSW 7 102113085 critical splice donor site probably null
R7215:Chrna10 UTSW 7 102112208 missense possibly damaging 0.95
R7253:Chrna10 UTSW 7 102112086 missense probably benign 0.00
Posted On2012-11-20