Incidental Mutation 'IGL00743:Chrnd'
ID9704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrnd
Ensembl Gene ENSMUSG00000026251
Gene Namecholinergic receptor, nicotinic, delta polypeptide
SynonymsAcrd, Achr-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL00743
Quality Score
Status
Chromosome1
Chromosomal Location87190607-87200070 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 87192927 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 91 (W91*)
Ref Sequence ENSEMBL: ENSMUSP00000139537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044533] [ENSMUST00000073252] [ENSMUST00000186373]
Predicted Effect probably benign
Transcript: ENSMUST00000044533
SMART Domains Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:Tryp_SPc 58 103 1e-5 BLAST
Tryp_SPc 108 336 1.17e-84 SMART
Blast:Tryp_SPc 340 385 4e-9 BLAST
low complexity region 386 407 N/A INTRINSIC
low complexity region 410 422 N/A INTRINSIC
Blast:Tryp_SPc 432 499 1e-5 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000073252
AA Change: W200*
SMART Domains Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: W200*

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:Neur_chan_LBD 28 249 4.4e-70 PFAM
Pfam:Neur_chan_memb 256 492 1.1e-74 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000186373
AA Change: W91*
SMART Domains Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251
AA Change: W91*

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 1 140 4.2e-40 PFAM
Pfam:Neur_chan_memb 147 383 6.6e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189970
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the delta subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The delta subunit together with the alpha subunit forms the ligand-binding site. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,619,686 E659G probably benign Het
Adgrg6 A C 10: 14,535,959 probably benign Het
Als2cl A G 9: 110,889,159 K323E possibly damaging Het
Atm A C 9: 53,513,116 S628R probably benign Het
Baz2a T C 10: 128,114,526 V443A probably benign Het
Bclaf3 T A X: 159,558,361 F545Y probably benign Het
Calcr T C 6: 3,717,196 Y88C probably damaging Het
Ccdc178 C T 18: 22,145,444 probably benign Het
Cdh20 A G 1: 104,947,428 T312A probably benign Het
Cntln T C 4: 84,979,415 F413S probably benign Het
Ctsq A T 13: 61,036,184 I308N probably damaging Het
Cyp2d34 A T 15: 82,617,535 V258D probably damaging Het
Dnajc13 G A 9: 104,162,780 P2044S probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hps6 A T 19: 46,003,660 D12V probably damaging Het
Hpse T C 5: 100,698,999 D188G probably benign Het
Id2 C A 12: 25,095,356 E123* probably null Het
Ints10 C T 8: 68,819,333 P562L probably damaging Het
Kctd10 G A 5: 114,367,349 R195C probably damaging Het
Kel A C 6: 41,688,575 L537R probably damaging Het
Kif19a T C 11: 114,784,773 V357A probably damaging Het
Lrrtm3 A T 10: 64,089,209 S60T probably damaging Het
Myof C A 19: 37,960,934 R608L probably benign Het
Naa35 A T 13: 59,630,671 I669F probably benign Het
Olfr968 A G 9: 39,772,111 S230P possibly damaging Het
Olfr971 A T 9: 39,839,706 I91F probably benign Het
Pclo G T 5: 14,678,021 probably benign Het
Pik3c3 C T 18: 30,274,364 S55F probably damaging Het
Prdm6 T G 18: 53,540,228 D153E possibly damaging Het
Rnf183 T C 4: 62,428,373 T63A probably benign Het
Samd4b A C 7: 28,401,877 I108S probably damaging Het
Slc9a7 T C X: 20,106,021 D708G possibly damaging Het
Stim2 A G 5: 54,053,493 D90G probably benign Het
Tmem52b A G 6: 129,516,715 D97G probably damaging Het
Tnfsf15 T C 4: 63,734,281 R98G probably benign Het
Uxs1 C T 1: 43,757,013 V310I probably benign Het
Vcan A C 13: 89,725,306 M143R probably damaging Het
Vmn2r93 T C 17: 18,326,242 F792S probably damaging Het
Zfp455 T C 13: 67,207,898 I345T probably benign Het
Zfp938 A T 10: 82,226,483 M101K probably benign Het
Zkscan2 A G 7: 123,479,972 S921P probably damaging Het
Other mutations in Chrnd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Chrnd APN 1 87195784 missense probably benign 0.00
IGL00765:Chrnd APN 1 87195709 missense probably damaging 1.00
IGL01666:Chrnd APN 1 87198736 missense possibly damaging 0.55
IGL03179:Chrnd APN 1 87195780 missense probably damaging 1.00
R0071:Chrnd UTSW 1 87192837 splice site probably benign
R0071:Chrnd UTSW 1 87192837 splice site probably benign
R0531:Chrnd UTSW 1 87194819 missense probably damaging 1.00
R1164:Chrnd UTSW 1 87192545 missense probably benign
R1386:Chrnd UTSW 1 87192590 missense probably damaging 0.97
R1768:Chrnd UTSW 1 87194928 missense probably benign
R1780:Chrnd UTSW 1 87192548 missense possibly damaging 0.52
R2336:Chrnd UTSW 1 87194893 missense probably damaging 1.00
R4093:Chrnd UTSW 1 87191007 nonsense probably null
R4424:Chrnd UTSW 1 87195790 missense probably benign 0.38
R4467:Chrnd UTSW 1 87197377 missense probably damaging 0.99
R4828:Chrnd UTSW 1 87191571 splice site probably benign
R5701:Chrnd UTSW 1 87197658 missense possibly damaging 0.77
R5895:Chrnd UTSW 1 87195667 splice site probably null
R6159:Chrnd UTSW 1 87191090 missense probably benign
R6321:Chrnd UTSW 1 87192229 missense probably damaging 1.00
R6927:Chrnd UTSW 1 87198712 missense probably damaging 1.00
R7189:Chrnd UTSW 1 87191058 missense probably damaging 1.00
R7242:Chrnd UTSW 1 87197479 missense probably damaging 0.99
R7420:Chrnd UTSW 1 87194821 missense possibly damaging 0.89
R7996:Chrnd UTSW 1 87191106 missense probably damaging 1.00
R8501:Chrnd UTSW 1 87192616 missense probably damaging 1.00
Posted On2012-12-06