Mutagenetix > Incidental Mutation

Incidental Mutation 'R0071:Chrnd'

17341

Institutional Source

Beutler Lab

Gene Symbol

Chrnd

Ensembl Gene

ENSMUSG00000026251

Gene Name

cholinergic receptor, nicotinic, delta polypeptide

Synonyms

Acrd, Achr-4

MMRRC Submission

038362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R0071 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87118329-87127792 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 87120559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044533] [ENSMUST00000073252] [ENSMUST00000186373]

AlphaFold

P02716

Predicted Effect

probably benign
Transcript: ENSMUST00000044533

SMART Domains

Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000073252

SMART Domains

Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251

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

SMART Domains

Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189970

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 88.2%
3x: 84.4%
10x: 70.8%
20x: 43.5%

Validation Efficiency

93% (94/101)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,027,915 (GRCm39)		probably benign	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Aox3	T	A	1: 58,211,050 (GRCm39)	C931*	probably null	Het
Apob	T	A	12: 8,052,111 (GRCm39)	V1184E	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Bccip	A	G	7: 133,315,960 (GRCm39)	D72G	probably damaging	Het
Bckdha	A	T	7: 25,329,868 (GRCm39)		probably null	Het
Bmerb1	A	G	16: 13,906,818 (GRCm39)	D11G	probably damaging	Het
Cald1	C	T	6: 34,735,069 (GRCm39)		probably benign	Het
Cdk11b	T	C	4: 155,733,880 (GRCm39)		probably benign	Het
Cebpe	G	T	14: 54,948,061 (GRCm39)	R261S	probably damaging	Het
Cep95	C	T	11: 106,681,554 (GRCm39)		probably benign	Het
Chi3l1	T	C	1: 134,113,017 (GRCm39)	Y150H	probably benign	Het
Cog2	T	C	8: 125,275,407 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,391 (GRCm39)	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,460,217 (GRCm39)	T3525A	probably benign	Het
Fam227b	T	A	2: 125,965,994 (GRCm39)	N144Y	probably benign	Het
Fhod1	A	T	8: 106,063,857 (GRCm39)		probably null	Het
Folr1	A	G	7: 101,513,130 (GRCm39)		probably null	Het
Glis3	C	T	19: 28,241,255 (GRCm39)		probably benign	Het
Golgb1	G	A	16: 36,735,865 (GRCm39)	R1704Q	probably benign	Het
Helz2	T	C	2: 180,878,200 (GRCm39)	Y866C	probably damaging	Het
Kcnma1	C	T	14: 23,576,835 (GRCm39)	R236H	probably damaging	Het
Lct	C	T	1: 128,219,755 (GRCm39)	W1631*	probably null	Het
Limk1	G	T	5: 134,690,245 (GRCm39)	Q104K	probably benign	Het
Ly75	T	C	2: 60,152,163 (GRCm39)	K1130R	probably benign	Het
Mdm1	A	G	10: 117,982,701 (GRCm39)	E112G	probably damaging	Het
Myo7a	A	T	7: 97,706,037 (GRCm39)	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,421,388 (GRCm39)	Y118C	probably benign	Het
Or13a20	A	T	7: 140,232,170 (GRCm39)	I93F	probably benign	Het
Or2d36	A	G	7: 106,746,919 (GRCm39)	Y132C	probably damaging	Het
Osbpl11	T	C	16: 33,034,708 (GRCm39)		probably benign	Het
Pik3cb	A	T	9: 98,926,918 (GRCm39)	D886E	probably benign	Het
Pkhd1	T	A	1: 20,271,568 (GRCm39)	Y2995F	probably benign	Het
Raver2	C	T	4: 100,977,642 (GRCm39)		probably benign	Het
Sec22c	A	G	9: 121,521,979 (GRCm39)	F44L	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Shoc1	A	G	4: 59,059,643 (GRCm39)	Y1006H	possibly damaging	Het
Sobp	A	G	10: 43,033,993 (GRCm39)	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,233,707 (GRCm39)	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,863,163 (GRCm39)	A104T	probably benign	Het
Spsb3	A	G	17: 25,106,878 (GRCm39)	D184G	probably damaging	Het
Sptan1	A	T	2: 29,893,354 (GRCm39)	K1148*	probably null	Het
Tdrd12	A	G	7: 35,228,671 (GRCm39)	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,100,777 (GRCm39)	T23A	probably benign	Het
Tra2b	A	T	16: 22,073,151 (GRCm39)		probably benign	Het
Tspan15	A	G	10: 62,038,849 (GRCm39)		probably benign	Het
Ttc41	A	G	10: 86,572,710 (GRCm39)	N694S	probably benign	Het
Ube3b	G	A	5: 114,557,558 (GRCm39)	G1014D	probably damaging	Het
Unc5d	A	G	8: 29,209,854 (GRCm39)	V422A	possibly damaging	Het
Vmn2r80	C	T	10: 79,007,566 (GRCm39)	T514I	possibly damaging	Het

Other mutations in Chrnd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7420:Chrnd	UTSW	1	87,122,543 (GRCm39)	missense	possibly damaging	0.89
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

Posted On

2013-01-20