Mutagenetix > Incidental Mutation

Incidental Mutation 'R7996:Chrnd'

616066

Institutional Source

Beutler Lab

Gene Symbol

Chrnd

Ensembl Gene

ENSMUSG00000026251

Gene Name

cholinergic receptor, nicotinic, delta polypeptide

Synonyms

Acrd, Achr-4

MMRRC Submission

046036-MU

Accession Numbers

Essential gene?

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

Stock #

R7996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87118329-87127792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87118828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 62 (T62A)

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 damaging
Transcript: ENSMUST00000073252
AA Change: T62A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: T62A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,977,490 (GRCm39)	N394K	probably damaging	Het
Amotl1	T	C	9: 14,505,001 (GRCm39)	D69G	possibly damaging	Het
Arid5a	G	T	1: 36,356,526 (GRCm39)	C121F	unknown	Het
Ccne2	C	A	4: 11,201,347 (GRCm39)	Q292K	probably benign	Het
Cfap70	A	G	14: 20,459,194 (GRCm39)	I723T	probably benign	Het
Cobll1	T	A	2: 64,981,329 (GRCm39)	H87L	possibly damaging	Het
Derl1	T	G	15: 57,741,970 (GRCm39)	M122L	probably benign	Het
Dnah5	T	A	15: 28,409,323 (GRCm39)	N3580K	probably damaging	Het
Efcab12	T	C	6: 115,800,378 (GRCm39)	Q215R	probably benign	Het
Eif3m	T	C	2: 104,831,694 (GRCm39)	N289D	probably benign	Het
Elapor2	A	C	5: 9,512,881 (GRCm39)	K958N	probably damaging	Het
Emsy	T	A	7: 98,242,888 (GRCm39)	I1084L	probably benign	Het
Garin3	T	C	11: 46,295,889 (GRCm39)	V87A		Het
Garre1	G	T	7: 33,963,024 (GRCm39)	T216K	possibly damaging	Het
Gm3336	A	T	8: 71,173,146 (GRCm39)	T53S	unknown	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Hr	G	A	14: 70,801,043 (GRCm39)	W676*	probably null	Het
Katnb1	A	T	8: 95,824,643 (GRCm39)	I546F	possibly damaging	Het
Memo1	A	T	17: 74,565,491 (GRCm39)	L24Q	probably damaging	Het
Mmel1	C	G	4: 154,976,912 (GRCm39)	Q529E	probably benign	Het
Naip5	A	G	13: 100,358,164 (GRCm39)	F1024S	probably damaging	Het
Or4c58	T	C	2: 89,674,759 (GRCm39)	D186G	probably benign	Het
Or7c70	A	T	10: 78,683,155 (GRCm39)	V198E	probably damaging	Het
Paics	A	G	5: 77,107,276 (GRCm39)	K110R	probably benign	Het
Pate13	G	A	9: 35,820,650 (GRCm39)	R34H	probably damaging	Het
Pcdhgc4	C	T	18: 37,950,459 (GRCm39)	S625F	probably damaging	Het
Pnpla8	T	A	12: 44,329,766 (GRCm39)	L106*	probably null	Het
Rabggtb	T	C	3: 153,617,605 (GRCm39)	H31R	probably damaging	Het
Rhot1	G	A	11: 80,148,363 (GRCm39)	C601Y	probably damaging	Het
Rps27	A	G	3: 90,120,309 (GRCm39)	V53A	probably benign	Het
Sdr39u1	C	A	14: 56,135,344 (GRCm39)	G200*	probably null	Het
Sesn1	T	A	10: 41,770,929 (GRCm39)	Y153*	probably null	Het
Slc25a40	A	G	5: 8,493,653 (GRCm39)	T168A	probably damaging	Het
Smoc2	C	T	17: 14,595,730 (GRCm39)	R286*	probably null	Het
Smtnl2	T	A	11: 72,291,200 (GRCm39)	K349N	probably damaging	Het
Snx16	G	T	3: 10,500,509 (GRCm39)	D153E	probably benign	Het
Spata31e5	C	T	1: 28,817,487 (GRCm39)	E182K	probably damaging	Het
Ssu72	A	C	4: 155,816,450 (GRCm39)	N144T	probably benign	Het
Stk40	C	A	4: 126,030,667 (GRCm39)	L296I	probably damaging	Het
Sult3a2	T	C	10: 33,644,254 (GRCm39)	M225V	probably damaging	Het
Syne2	T	C	12: 76,051,441 (GRCm39)	L4057P	probably damaging	Het
Tbx2	A	G	11: 85,725,616 (GRCm39)	H189R	probably damaging	Het
Tead1	T	C	7: 112,441,311 (GRCm39)		probably null	Het
Tgs1	T	C	4: 3,605,842 (GRCm39)	S786P	probably damaging	Het
Tmco4	T	C	4: 138,748,172 (GRCm39)	Y251H	probably damaging	Het
Trim14	A	T	4: 46,533,086 (GRCm39)	C76S	probably benign	Het
Tubgcp6	T	A	15: 88,993,231 (GRCm39)	Q506L	possibly damaging	Het
Vmn2r50	A	T	7: 9,781,795 (GRCm39)	F317I	probably damaging	Het
Vwa5a	T	A	9: 38,639,124 (GRCm39)	Y335*	probably null	Het
Zgrf1	C	T	3: 127,389,573 (GRCm39)	T1257I	possibly damaging	Het
Zpr1	A	G	9: 46,184,863 (GRCm39)	N87D	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
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
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'- AGGCTCCTTCCTAGGTCCAAAC -3'
(R):5'- ATCAGCAGACTACGGAAGCG -3'

Sequencing Primer
(F):5'- TCCTTCCTAGGTCCAAACACCAG -3'
(R):5'- TAGCTTGACAGTGGCAGGC -3'

Posted On

2020-01-23