Mutagenetix > Incidental Mutation

Incidental Mutation 'R6159:Chrnd'

489733

Institutional Source

Beutler Lab

Gene Symbol

Chrnd

Ensembl Gene

ENSMUSG00000026251

Gene Name

cholinergic receptor, nicotinic, delta polypeptide

Synonyms

Acrd, Achr-4

MMRRC Submission

044306-MU

Accession Numbers

Essential gene?

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

Stock #

R6159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87118329-87127792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87118812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 56 (D56E)

Ref Sequence

ENSEMBL: ENSMUSP00000072983 (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
AA Change: D56E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: D56E

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: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.2%

Validation Efficiency

96% (54/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	C	6: 29,908,457 (GRCm39)	N609T	possibly damaging	Het
Ankzf1	G	A	1: 75,170,888 (GRCm39)	C98Y	probably damaging	Het
Atg101	T	A	15: 101,188,519 (GRCm39)	M208K	possibly damaging	Het
Baiap2l2	A	G	15: 79,143,930 (GRCm39)	I388T	probably benign	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Col28a1	A	T	6: 8,162,247 (GRCm39)		probably null	Het
Col4a1	G	T	8: 11,270,007 (GRCm39)	P899Q	probably damaging	Het
Cts3	C	A	13: 61,714,655 (GRCm39)	A217S	probably damaging	Het
Dab2	A	G	15: 6,465,941 (GRCm39)	N495S	possibly damaging	Het
Dnah2	T	A	11: 69,349,368 (GRCm39)	I2423F	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock6	T	C	9: 21,733,041 (GRCm39)	H1053R	probably benign	Het
Eif1ad14	G	A	12: 87,886,521 (GRCm39)	A36V	probably damaging	Het
Fam184a	G	A	10: 53,574,869 (GRCm39)	L191F	probably damaging	Het
Fbxl9	T	C	8: 106,049,925 (GRCm39)	Y33C	probably damaging	Het
Fip1l1	C	T	5: 74,752,608 (GRCm39)	R472W	probably damaging	Het
Gbp2	T	C	3: 142,338,018 (GRCm39)	F378S	probably damaging	Het
Ggt1	A	T	10: 75,420,799 (GRCm39)	E388V	probably damaging	Het
Gm14496	A	G	2: 181,638,050 (GRCm39)	T375A	probably benign	Het
Gm43302	A	G	5: 105,436,894 (GRCm39)	S71P	probably benign	Het
Gnrhr	G	T	5: 86,330,216 (GRCm39)	T268K	probably damaging	Het
Htt	T	C	5: 34,962,020 (GRCm39)	V335A	probably benign	Het
Klhl20	A	T	1: 160,933,037 (GRCm39)	L257H	probably damaging	Het
Med27	C	A	2: 29,414,376 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,369,323 (GRCm39)	C2433S	possibly damaging	Het
Nasp	A	G	4: 116,461,086 (GRCm39)		probably null	Het
Nipal2	A	C	15: 34,600,172 (GRCm39)	V215G	probably damaging	Het
Or10al5	A	T	17: 38,063,038 (GRCm39)	I98F	probably damaging	Het
Or9i1b	C	T	19: 13,897,104 (GRCm39)	T240I	probably damaging	Het
Oxct2b	G	A	4: 123,011,244 (GRCm39)	R388H	probably damaging	Het
Pbrm1	A	G	14: 30,774,240 (GRCm39)	I469V	possibly damaging	Het
Phyhip	A	G	14: 70,704,294 (GRCm39)	H171R	possibly damaging	Het
Pigs	C	T	11: 78,219,326 (GRCm39)	T9M	probably benign	Het
Plek	T	C	11: 16,935,539 (GRCm39)	D256G	probably damaging	Het
Prss50	T	C	9: 110,693,371 (GRCm39)	V369A	probably benign	Het
Psmc5	A	G	11: 106,152,088 (GRCm39)	K82E	possibly damaging	Het
Qrsl1	A	T	10: 43,758,189 (GRCm39)	F301L	probably benign	Het
Rasal1	T	C	5: 120,797,673 (GRCm39)	L135P	probably damaging	Het
Rbm47	A	G	5: 66,184,159 (GRCm39)	V148A	probably damaging	Het
Scyl1	T	A	19: 5,814,785 (GRCm39)	D381V	probably benign	Het
Selplg	G	T	5: 113,957,162 (GRCm39)	D381E	probably benign	Het
Sh3rf2	C	A	18: 42,289,200 (GRCm39)	Q674K	probably damaging	Het
Sned1	A	G	1: 93,210,659 (GRCm39)	T987A	probably benign	Het
Sntb1	A	G	15: 55,539,698 (GRCm39)		probably null	Het
Synj2	A	T	17: 6,036,327 (GRCm39)	I14F	probably damaging	Het
Taf2	A	T	15: 54,926,440 (GRCm39)	M170K	possibly damaging	Het
Tg	A	G	15: 66,607,096 (GRCm39)	E211G	possibly damaging	Het
Thnsl1	G	T	2: 21,217,016 (GRCm39)	E257*	probably null	Het
Tlr4	A	G	4: 66,758,070 (GRCm39)	R288G	possibly damaging	Het
Trbc1	T	C	6: 41,515,385 (GRCm39)		probably benign	Het
Trim37	G	A	11: 87,107,374 (GRCm39)		probably null	Het
Txnrd3	T	C	6: 89,640,176 (GRCm39)		probably null	Het
Tyk2	C	A	9: 21,021,800 (GRCm39)	Q875H	probably damaging	Het
Vmn2r55	A	G	7: 12,385,698 (GRCm39)	Y761H	probably damaging	Het
Zswim5	T	C	4: 116,836,876 (GRCm39)	L720P	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
R5895:Chrnd	UTSW	1	87,123,389 (GRCm39)	splice site	probably null
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'- GTGGTAAGGATGACATAACCCC -3'
(R):5'- ATAGCTTGACAGTGGCAGGC -3'

Sequencing Primer
(F):5'- GGATGACATAACCCCCTTCCTGG -3'
(R):5'- CAGGCAGAGCTGATGGC -3'

Posted On

2017-10-10