Incidental Mutation 'R7215:Chrna10'
ID 561389
Institutional Source Beutler Lab
Gene Symbol Chrna10
Ensembl Gene ENSMUSG00000066279
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 10
Synonyms
MMRRC Submission 045287-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R7215 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101760473-101766035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101761415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 392 (L392P)
Ref Sequence ENSEMBL: ENSMUSP00000081891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084830] [ENSMUST00000209809] [ENSMUST00000210211] [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: L392P

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081891
Gene: ENSMUSG00000066279
AA Change: L392P

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: ENSMUST00000211408
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G A 13: 77,471,690 (GRCm39) V1032M possibly damaging Het
Abca13 T A 11: 9,238,405 (GRCm39) probably null Het
Adamts14 T A 10: 61,047,375 (GRCm39) H739L possibly damaging Het
Adgrl3 A G 5: 81,841,397 (GRCm39) E758G probably damaging Het
Ano3 T A 2: 110,496,277 (GRCm39) T826S probably damaging Het
Arhgap45 C T 10: 79,861,316 (GRCm39) T493I possibly damaging Het
Atg9b A C 5: 24,593,039 (GRCm39) W455G probably damaging Het
Atp4a A G 7: 30,416,785 (GRCm39) N496S possibly damaging Het
Bckdk T A 7: 127,504,282 (GRCm39) D60E possibly damaging Het
Blmh A T 11: 76,856,725 (GRCm39) K244* probably null Het
Btbd17 T C 11: 114,682,291 (GRCm39) I474V possibly damaging Het
C87436 A G 6: 86,439,662 (GRCm39) E451G possibly damaging Het
Camta1 T C 4: 151,229,194 (GRCm39) E546G probably damaging Het
Casp1 A G 9: 5,298,523 (GRCm39) probably null Het
Ccdc116 A G 16: 16,957,792 (GRCm39) Y456H probably damaging Het
Cep350 A C 1: 155,770,453 (GRCm39) S1812R possibly damaging Het
Col22a1 A T 15: 71,842,181 (GRCm39) C434* probably null Het
Cxcl9 G A 5: 92,471,747 (GRCm39) Q98* probably null Het
Cyp2c54 G A 19: 40,034,626 (GRCm39) T348I probably damaging Het
Dnah7a G A 1: 53,657,509 (GRCm39) R756C probably damaging Het
Dnajc18 T C 18: 35,815,034 (GRCm39) T239A probably benign Het
Dnase2a A T 8: 85,636,399 (GRCm39) probably null Het
Dpyd A G 3: 119,059,681 (GRCm39) T793A probably benign Het
Edil3 T C 13: 88,970,169 (GRCm39) probably null Het
Ehd1 T A 19: 6,347,672 (GRCm39) I342N possibly damaging Het
Erbb4 A T 1: 68,378,619 (GRCm39) S341T probably benign Het
Ezh1 T A 11: 101,106,125 (GRCm39) T87S probably benign Het
Fam20b A T 1: 156,518,123 (GRCm39) W224R probably damaging Het
Galns A T 8: 123,326,087 (GRCm39) probably null Het
Gm13283 C T 4: 88,678,967 (GRCm39) probably benign Het
Gm49342 A T 14: 51,182,040 (GRCm39) M23L probably benign Het
Gm5114 T A 7: 39,060,795 (GRCm39) H18L probably benign Het
Gpr89 A G 3: 96,787,404 (GRCm39) W299R probably damaging Het
Hadha G T 5: 30,324,840 (GRCm39) N755K probably benign Het
Inpp5d A T 1: 87,628,940 (GRCm39) H620L probably benign Het
Klk1b3 T A 7: 43,849,828 (GRCm39) probably null Het
Macf1 T C 4: 123,401,097 (GRCm39) T663A probably damaging Het
Man1b1 A G 2: 25,240,402 (GRCm39) N601S probably benign Het
Mbtps1 A G 8: 120,251,307 (GRCm39) V605A possibly damaging Het
Med23 C G 10: 24,764,327 (GRCm39) D311E probably benign Het
Myo3a G T 2: 22,250,378 (GRCm39) D82Y possibly damaging Het
Nsd1 T A 13: 55,395,454 (GRCm39) D1121E probably benign Het
Odad1 C T 7: 45,586,046 (GRCm39) R148C probably damaging Het
Or4c116 G A 2: 88,942,845 (GRCm39) Q4* probably null Het
Or5al1 C T 2: 85,989,800 (GRCm39) V305I probably benign Het
Or8b3b A G 9: 38,584,743 (GRCm39) I12T probably benign Het
Otoa T C 7: 120,717,795 (GRCm39) V19A unknown Het
Pcdhb20 A T 18: 37,638,439 (GRCm39) T322S probably benign Het
Pecam1 T C 11: 106,586,745 (GRCm39) T257A probably benign Het
Pi16 G T 17: 29,538,072 (GRCm39) probably benign Het
Pik3c2g C T 6: 139,700,589 (GRCm39) T293M Het
Pira13 C T 7: 3,825,310 (GRCm39) C444Y unknown Het
Pkhd1l1 T A 15: 44,391,559 (GRCm39) C1542S possibly damaging Het
Prrc2b G A 2: 32,119,309 (GRCm39) G2172R probably damaging Het
Prrt1 A T 17: 34,848,677 (GRCm39) probably null Het
Ptprb T A 10: 116,174,681 (GRCm39) N784K possibly damaging Het
Rem1 C A 2: 152,470,069 (GRCm39) S18R probably damaging Het
Ripk4 G A 16: 97,548,523 (GRCm39) probably null Het
Scn8a G A 15: 100,927,711 (GRCm39) V1397I possibly damaging Het
Setbp1 T A 18: 78,900,052 (GRCm39) H1205L probably damaging Het
Shmt1 T C 11: 60,692,361 (GRCm39) I132V probably damaging Het
Slc24a1 T A 9: 64,835,785 (GRCm39) T781S unknown Het
Sncaip C T 18: 53,040,415 (GRCm39) Q870* probably null Het
Stab1 A T 14: 30,882,754 (GRCm39) N416K possibly damaging Het
Tcea1 A G 1: 4,937,706 (GRCm39) D26G probably damaging Het
Tcf20 A T 15: 82,737,690 (GRCm39) S1254T probably benign Het
Tead4 T A 6: 128,205,641 (GRCm39) I354F probably damaging Het
Tex36 G A 7: 133,189,147 (GRCm39) R142* probably null Het
Trav6d-3 T A 14: 52,962,799 (GRCm39) L12Q probably damaging Het
Trpc4 A G 3: 54,102,317 (GRCm39) T72A possibly damaging Het
Trrap G A 5: 144,733,945 (GRCm39) A933T probably benign Het
Tspoap1 T A 11: 87,661,315 (GRCm39) I589N probably benign Het
Ttll5 T A 12: 85,980,170 (GRCm39) V918E probably benign Het
Tut4 T C 4: 108,384,205 (GRCm39) Y1091H probably damaging Het
Txn2 A G 15: 77,811,886 (GRCm39) probably null Het
Ucn3 T G 13: 3,991,365 (GRCm39) T96P probably benign Het
Usp36 T C 11: 118,155,980 (GRCm39) E764G possibly damaging Het
Vmn2r23 A T 6: 123,681,323 (GRCm39) H77L probably benign Het
Vmn2r57 T C 7: 41,049,710 (GRCm39) T680A probably benign Het
Vwa3a T C 7: 120,394,853 (GRCm39) I891T possibly damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zhx2 A G 15: 57,687,039 (GRCm39) I803V 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGCTCCCTGAAATCCAGTTCC -3'
(R):5'- TGTGGCCCTAATGCACATCC -3'

Sequencing Primer
(F):5'- CAGTTCCTGGCCCTTACAG -3'
(R):5'- TAATGCACATCCAGTACCTGCCTG -3'
Posted On 2019-06-26