Incidental Mutation 'R7420:Chrnd'
ID 575586
Institutional Source Beutler Lab
Gene Symbol Chrnd
Ensembl Gene ENSMUSG00000026251
Gene Name cholinergic receptor, nicotinic, delta polypeptide
Synonyms Acrd, Achr-4
MMRRC Submission 045498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R7420 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87118329-87127792 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87122543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 217 (V217E)
Ref Sequence ENSEMBL: ENSMUSP00000072983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073252] [ENSMUST00000186373]
AlphaFold P02716
Predicted Effect possibly damaging
Transcript: ENSMUST00000073252
AA Change: V217E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: V217E

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 possibly damaging
Transcript: ENSMUST00000186373
AA Change: V108E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251
AA Change: V108E

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 1 140 4.2e-40 PFAM
Pfam:Neur_chan_memb 147 383 6.6e-63 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 95% (54/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,141,303 (GRCm39) V6A probably benign Het
Adam29 T A 8: 56,325,933 (GRCm39) M174L probably benign Het
Ano1 G A 7: 144,209,378 (GRCm39) T274I probably benign Het
Atad5 A T 11: 79,986,688 (GRCm39) T592S probably benign Het
Bud13 C T 9: 46,199,113 (GRCm39) P158L probably benign Het
Card19 T C 13: 49,361,613 (GRCm39) Y6C probably damaging Het
Cd36 C G 5: 17,993,272 (GRCm39) V393L probably benign Het
Cd79a A T 7: 24,596,971 (GRCm39) R9* probably null Het
Cep164 T C 9: 45,679,840 (GRCm39) H1131R probably benign Het
Chia1 T A 3: 106,037,980 (GRCm39) S321T probably benign Het
Cmtm7 T C 9: 114,592,462 (GRCm39) probably null Het
Csn1s2a T C 5: 87,927,865 (GRCm39) S60P possibly damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Dnah2 C T 11: 69,369,623 (GRCm39) A1618T possibly damaging Het
Dnah9 A G 11: 66,008,233 (GRCm39) probably null Het
Epn1 A T 7: 5,100,687 (GRCm39) T546S possibly damaging Het
Fam135a A G 1: 24,051,567 (GRCm39) S1443P possibly damaging Het
Fam13b G T 18: 34,627,664 (GRCm39) P179Q probably damaging Het
Git2 T C 5: 114,868,431 (GRCm39) T647A probably benign Het
Gli2 T C 1: 118,763,669 (GRCm39) N1494S probably benign Het
Gm4952 G A 19: 12,604,265 (GRCm39) G226R probably damaging Het
Gm5460 T A 14: 33,758,714 (GRCm39) F156I probably damaging Het
Heatr5b A T 17: 79,115,909 (GRCm39) V849D probably damaging Het
Hepacam A G 9: 37,292,005 (GRCm39) D111G probably benign Het
Hk1 T C 10: 62,105,761 (GRCm39) D895G probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kdm5b T C 1: 134,532,235 (GRCm39) V471A probably benign Het
Klhdc8b A G 9: 108,326,317 (GRCm39) Y239H possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt82 T C 15: 101,454,022 (GRCm39) T229A probably damaging Het
Lrrc37 A T 11: 103,504,451 (GRCm39) S2506T probably benign Het
Lztr1 T C 16: 17,341,993 (GRCm39) L656P probably damaging Het
Mfrp T C 9: 44,013,773 (GRCm39) probably benign Het
Nfe2l1 A G 11: 96,710,739 (GRCm39) S497P probably benign Het
Or2ag1b G A 7: 106,288,227 (GRCm39) A237V possibly damaging Het
Or8b44 G T 9: 38,410,359 (GRCm39) L131F probably benign Het
Otud4 C A 8: 80,390,737 (GRCm39) T418K probably benign Het
Pcdhb21 A G 18: 37,648,256 (GRCm39) N462D probably damaging Het
Plch1 A G 3: 63,630,278 (GRCm39) S497P probably damaging Het
Plekha8 T C 6: 54,590,179 (GRCm39) V48A probably damaging Het
Ppp2r5d A T 17: 46,998,507 (GRCm39) F121L probably null Het
Prxl2c C T 13: 64,445,131 (GRCm39) G164D possibly damaging Het
Sdad1 G A 5: 92,453,596 (GRCm39) A64V possibly damaging Het
Selenop G T 15: 3,309,052 (GRCm39) A335S probably damaging Het
Shc3 T C 13: 51,585,271 (GRCm39) N448S probably benign Het
Shcbp1 G A 8: 4,798,737 (GRCm39) T394I probably benign Het
Slc39a11 G T 11: 113,138,648 (GRCm39) A276E probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Speg T A 1: 75,407,549 (GRCm39) S3185R probably damaging Het
Tmem100 A T 11: 89,926,579 (GRCm39) *135Y probably null Het
Ube2o A T 11: 116,430,898 (GRCm39) F1001I probably damaging Het
Usp7 T C 16: 8,527,985 (GRCm39) D148G probably benign Het
Vmn2r16 A G 5: 109,511,736 (GRCm39) T648A probably damaging Het
Vmn2r67 A G 7: 84,785,944 (GRCm39) L687P possibly damaging Het
Zcchc14 ACCGCCGCCGCCGCCGCC ACCGCCGCCGCCGCC 8: 122,378,530 (GRCm39) probably benign Het
Zfp800 A G 6: 28,243,718 (GRCm39) S416P probably benign Het
Other mutations in Chrnd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Chrnd APN 1 87,120,649 (GRCm39) nonsense probably null
IGL00754:Chrnd APN 1 87,123,506 (GRCm39) missense probably benign 0.00
IGL00765:Chrnd APN 1 87,123,431 (GRCm39) missense probably damaging 1.00
IGL01666:Chrnd APN 1 87,126,458 (GRCm39) missense possibly damaging 0.55
IGL03179:Chrnd APN 1 87,123,502 (GRCm39) missense probably damaging 1.00
R0071:Chrnd UTSW 1 87,120,559 (GRCm39) splice site probably benign
R0071:Chrnd UTSW 1 87,120,559 (GRCm39) splice site probably benign
R0531:Chrnd UTSW 1 87,122,541 (GRCm39) missense probably damaging 1.00
R1164:Chrnd UTSW 1 87,120,267 (GRCm39) missense probably benign
R1386:Chrnd UTSW 1 87,120,312 (GRCm39) missense probably damaging 0.97
R1768:Chrnd UTSW 1 87,122,650 (GRCm39) missense probably benign
R1780:Chrnd UTSW 1 87,120,270 (GRCm39) missense possibly damaging 0.52
R2336:Chrnd UTSW 1 87,122,615 (GRCm39) missense probably damaging 1.00
R4093:Chrnd UTSW 1 87,118,729 (GRCm39) nonsense probably null
R4424:Chrnd UTSW 1 87,123,512 (GRCm39) missense probably benign 0.38
R4467:Chrnd UTSW 1 87,125,099 (GRCm39) missense probably damaging 0.99
R4828:Chrnd UTSW 1 87,119,293 (GRCm39) splice site probably benign
R5701:Chrnd UTSW 1 87,125,380 (GRCm39) missense possibly damaging 0.77
R5895:Chrnd UTSW 1 87,123,389 (GRCm39) splice site probably null
R6159:Chrnd UTSW 1 87,118,812 (GRCm39) missense probably benign
R6321:Chrnd UTSW 1 87,119,951 (GRCm39) missense probably damaging 1.00
R6927:Chrnd UTSW 1 87,126,434 (GRCm39) missense probably damaging 1.00
R7189:Chrnd UTSW 1 87,118,780 (GRCm39) missense probably damaging 1.00
R7242:Chrnd UTSW 1 87,125,201 (GRCm39) missense probably damaging 0.99
R7996:Chrnd UTSW 1 87,118,828 (GRCm39) missense probably damaging 1.00
R8501:Chrnd UTSW 1 87,120,338 (GRCm39) missense probably damaging 1.00
R8944:Chrnd UTSW 1 87,119,997 (GRCm39) missense probably damaging 1.00
R8963:Chrnd UTSW 1 87,122,603 (GRCm39) missense probably damaging 1.00
R9646:Chrnd UTSW 1 87,120,311 (GRCm39) missense probably damaging 1.00
R9758:Chrnd UTSW 1 87,118,792 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AACTTCTTCCTCACAGACTGAC -3'
(R):5'- TGCGATTCCTGCCTGAGTTC -3'

Sequencing Primer
(F):5'- AGACTGACCCCACAGATGG -3'
(R):5'- GCCTGAGTTCTTATTCACAATGG -3'
Posted On 2019-10-07