Mutagenetix > Incidental Mutation

Incidental Mutation 'R5895:Chrnd'

457428

Institutional Source

Beutler Lab

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: 0.145) question?

Stock #

R5895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87118329-87127792 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 87123389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139537 (fasta)

Gene Model

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

AlphaFold

P02716

Predicted Effect

probably null
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 null
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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.7%

Validation Efficiency

98% (64/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,752,216 (GRCm39)	G426S	probably damaging	Het
Casp4	A	T	9: 5,328,573 (GRCm39)		probably benign	Het
Ccdc40	T	A	11: 119,144,229 (GRCm39)	F988Y	probably damaging	Het
Ccdc9b	T	C	2: 118,590,098 (GRCm39)	T249A	probably benign	Het
Chd5	T	A	4: 152,464,389 (GRCm39)	V1516E	probably benign	Het
Col5a3	C	A	9: 20,683,738 (GRCm39)	G1506V	unknown	Het
Csgalnact2	A	T	6: 118,106,215 (GRCm39)	C34*	probably null	Het
Ddx23	T	C	15: 98,549,832 (GRCm39)	K195E	probably benign	Het
Dhps	T	G	8: 85,800,880 (GRCm39)	S240A	probably benign	Het
Dnah5	T	A	15: 28,234,599 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,514,676 (GRCm39)	T1414A	probably benign	Het
Dock4	A	G	12: 40,805,812 (GRCm39)	D928G	probably damaging	Het
Dolpp1	T	C	2: 30,285,658 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,028,601 (GRCm39)	I830F	probably damaging	Het
Elmod1	C	T	9: 53,843,091 (GRCm39)	R29Q	probably damaging	Het
Ephx4	T	A	5: 107,577,518 (GRCm39)		probably null	Het
Evi5	A	T	5: 107,968,302 (GRCm39)	M215K	probably damaging	Het
Fbxl4	T	C	4: 22,390,678 (GRCm39)	L287P	probably damaging	Het
Gbp9	G	A	5: 105,230,724 (GRCm39)	S400L	probably damaging	Het
Gm6291	T	C	18: 6,371,365 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,688,596 (GRCm39)	D301E	probably benign	Het
Gna14	C	T	19: 16,580,692 (GRCm39)	R177C	possibly damaging	Het
Golph3	C	T	15: 12,339,756 (GRCm39)	R90C	probably damaging	Het
Gpr142	T	A	11: 114,689,785 (GRCm39)	C12*	probably null	Het
Hat1	T	A	2: 71,239,357 (GRCm39)	N43K	possibly damaging	Het
Hivep1	A	T	13: 42,310,694 (GRCm39)	E978V	possibly damaging	Het
Hormad1	G	A	3: 95,467,044 (GRCm39)		probably null	Het
Kalrn	C	T	16: 33,795,805 (GRCm39)		probably benign	Het
Mars1	T	C	10: 127,132,418 (GRCm39)	T860A	probably benign	Het
Mdn1	A	T	4: 32,695,400 (GRCm39)	L1146F	probably damaging	Het
Met	A	G	6: 17,531,581 (GRCm39)	T620A	probably benign	Het
Mppe1	T	C	18: 67,358,834 (GRCm39)	E378G	probably benign	Het
Mybpc3	T	A	2: 90,955,010 (GRCm39)	V481D	probably damaging	Het
Myh14	A	T	7: 44,256,133 (GRCm39)	L1924Q	probably damaging	Het
Mylip	G	T	13: 45,562,178 (GRCm39)	E327*	probably null	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Naip6	A	G	13: 100,452,500 (GRCm39)	V187A	possibly damaging	Het
Ncam1	T	A	9: 49,418,343 (GRCm39)	T986S	probably benign	Het
Or13p4	T	C	4: 118,547,314 (GRCm39)	I112V	probably damaging	Het
Or4x13	T	C	2: 90,231,800 (GRCm39)	I265T	probably benign	Het
Phactr2	C	T	10: 13,121,261 (GRCm39)	G480S	probably damaging	Het
Por	A	G	5: 135,744,838 (GRCm39)	I34V	probably benign	Het
Ppp2r5b	C	T	19: 6,284,764 (GRCm39)	R33H	probably damaging	Het
Prkdc	C	A	16: 15,570,693 (GRCm39)	Y2325*	probably null	Het
Prx	A	G	7: 27,214,709 (GRCm39)	E73G	probably damaging	Het
Rbms2	C	A	10: 127,981,556 (GRCm39)	A126S	possibly damaging	Het
Rhoq	C	T	17: 87,302,117 (GRCm39)	A111V	probably damaging	Het
Rpl14	T	A	9: 120,403,240 (GRCm39)		probably benign	Het
Serbp1	A	G	6: 67,249,870 (GRCm39)	*75W	probably null	Het
Sptbn1	C	A	11: 30,073,978 (GRCm39)	V1351F	probably damaging	Het
Supt16	A	G	14: 52,401,979 (GRCm39)	V897A	probably benign	Het
Tfdp1	T	A	8: 13,407,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,780,487 (GRCm39)	Y1088F	probably damaging	Het
Vmn2r105	G	T	17: 20,448,929 (GRCm39)	Q83K	probably benign	Het
Wdr76	A	T	2: 121,359,323 (GRCm39)	S221C	probably damaging	Het
Zfhx2	G	T	14: 55,303,348 (GRCm39)	F1545L	probably benign	Het
Zfp318	A	G	17: 46,709,959 (GRCm39)	I561V	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GACTCCAAGTGTGAGCTTCCAG -3'
(R):5'- TTCTGAGATCACACCCATCACG -3'

Sequencing Primer
(F):5'- TCCAGGTGGAGAGAAGACCTCC -3'
(R):5'- ATCACGCTCACGGATCCTC -3'

Posted On

2017-02-15