Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01666:Chrnd'

103315

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrnd

Ensembl Gene

ENSMUSG00000026251

Gene Name

cholinergic receptor, nicotinic, delta polypeptide

Synonyms

Acrd, Achr-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL01666

Quality Score

Status

Chromosome

Chromosomal Location

87190607-87200070 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87198736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 513 (S513C)

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: S513C

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: S513C

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000186373
AA Change: S404C

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251
AA Change: S404C

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	1	140	4.2e-40	PFAM
Pfam:Neur_chan_memb	147	383	6.6e-63	PFAM

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,153,292	V1335M	probably damaging	Het
9530077C05Rik	A	G	9: 22,431,698	D163G	probably benign	Het
Adgrb3	C	A	1: 25,460,751	A664S	probably damaging	Het
Ankrd61	T	A	5: 143,891,136	L297F	probably damaging	Het
Col24a1	G	A	3: 145,344,686	V645M	possibly damaging	Het
Csn3	T	C	5: 87,930,157	V174A	unknown	Het
D630039A03Rik	C	T	4: 57,910,570	V81I	possibly damaging	Het
Deptor	G	A	15: 55,149,379	R54Q	probably damaging	Het
Ell	A	G	8: 70,585,813	H400R	probably benign	Het
Itga2	A	G	13: 114,837,091		probably null	Het
Itpr3	A	G	17: 27,117,178	I2293V	probably benign	Het
Mrps27	A	G	13: 99,409,816	E241G	probably damaging	Het
Mut	T	C	17: 40,958,811	L687P	probably damaging	Het
Myh9	C	T	15: 77,761,931	A1951T	probably benign	Het
Oca2	G	A	7: 56,314,811		probably null	Het
Olfr135	C	T	17: 38,208,889	L215F	probably benign	Het
Olfr215	T	A	6: 116,582,335	I204F	possibly damaging	Het
Ptgdr2	T	C	19: 10,940,910	F264L	probably benign	Het
Ptpn23	T	C	9: 110,386,545	T1384A	possibly damaging	Het
Rasgrf2	A	T	13: 92,038,210	D170E	probably damaging	Het
Rnf20	C	T	4: 49,654,486	Q848*	probably null	Het

Other mutations in Chrnd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Chrnd	APN	1	87192927	nonsense	probably null
IGL00754:Chrnd	APN	1	87195784	missense	probably benign	0.00
IGL00765:Chrnd	APN	1	87195709	missense	probably damaging	1.00
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
R8944:Chrnd	UTSW	1	87192275	missense	probably damaging	1.00
R8963:Chrnd	UTSW	1	87194881	missense	probably damaging	1.00
R9646:Chrnd	UTSW	1	87192589	missense	probably damaging	1.00
R9758:Chrnd	UTSW	1	87191070	nonsense	probably null

Posted On

2014-01-21