Mutagenetix > Incidental Mutation

Incidental Mutation 'R4290:Chrna9'

322995

Institutional Source

Beutler Lab

Gene Symbol

Chrna9

Ensembl Gene

ENSMUSG00000029205

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 9

Synonyms

2410015I05Rik, Gm8311, Acra9

MMRRC Submission

041655-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R4290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65934921-65977326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65977138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 444 (K444R)

Ref Sequence

ENSEMBL: ENSMUSP00000031108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031108]

AlphaFold

G3X8Z7

Predicted Effect

probably benign
Transcript: ENSMUST00000031108
AA Change: K444R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031108
Gene: ENSMUSG00000029205
AA Change: K444R

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	31	237	2.7e-69	PFAM
Pfam:Neur_chan_memb	244	475	8.6e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201664

Meta Mutation Damage Score

0.0941

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in abnormal innervation of the outer hair cells and depressed olivocochlear response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,594,012	N1545S	probably benign	Het
Arid1b	C	A	17: 5,040,663	S546R	probably damaging	Het
Arid3b	A	T	9: 57,790,430		probably benign	Het
Atf6b	T	A	17: 34,652,674	M428K	probably benign	Het
Atpaf1	A	T	4: 115,788,359	M142L	probably benign	Het
Auts2	A	G	5: 131,474,971	S225P	probably damaging	Het
Bclaf1	A	G	10: 20,323,778	Q20R	probably damaging	Het
Bivm	A	T	1: 44,138,633	R364S	probably damaging	Het
Brwd1	G	A	16: 96,017,604	P1343S	probably damaging	Het
Cckar	A	G	5: 53,706,497	S41P	probably benign	Het
Cfap221	A	G	1: 119,930,920	S728P	probably benign	Het
Cox10	A	T	11: 63,964,255	V400E	probably benign	Het
Dact2	C	T	17: 14,196,571	E456K	probably benign	Het
Ddr2	A	G	1: 169,990,609	V443A	probably benign	Het
Dlg3	A	T	X: 100,796,682		probably benign	Het
En1	C	A	1: 120,603,757	A242E	unknown	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Gm6124	A	T	7: 39,222,771		noncoding transcript	Het
Gucy1a1	A	T	3: 82,094,759	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,314,587	M48L	possibly damaging	Het
Hepacam2	T	A	6: 3,487,237	Y40F	probably benign	Het
Ift80	A	G	3: 68,963,690	I191T	probably damaging	Het
Il19	T	A	1: 130,935,013	T58S	possibly damaging	Het
Itga2	G	A	13: 114,866,173	R594C	probably damaging	Het
Itga5	C	T	15: 103,352,257		probably null	Het
Kcna1	T	C	6: 126,641,875	D494G	probably damaging	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Kmt2b	A	T	7: 30,581,836		probably null	Het
Kmt5b	T	C	19: 3,802,193	Y125H	possibly damaging	Het
Lbr	C	T	1: 181,820,702	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,654,481	L320P	probably damaging	Het
Man1c1	T	A	4: 134,563,785	D600V	probably damaging	Het
Mapkapk3	T	C	9: 107,258,932		probably benign	Het
Mccc1	A	G	3: 35,990,068	V203A	probably damaging	Het
Mettl5	T	C	2: 69,880,832	N114S	probably benign	Het
Mindy2	T	A	9: 70,631,094	R320W	probably damaging	Het
Nrip1	A	G	16: 76,291,988	S894P	probably benign	Het
Nup210l	A	T	3: 90,207,326	H1736L	probably benign	Het
Olfr1396	T	A	11: 49,113,427	I100L	probably benign	Het
Olfr1508	T	C	14: 52,463,985	N8S	probably damaging	Het
Olfr169	A	T	16: 19,566,244	M213K	possibly damaging	Het
Olfr310	A	T	7: 86,269,760	F10I	probably damaging	Het
Olfr373	A	G	8: 72,099,768	T3A	probably benign	Het
Olfr711	A	C	7: 106,971,711	L211R	probably damaging	Het
Olfr926	A	G	9: 38,877,313	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,322,681	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,097	P559S	probably damaging	Het
Plpp4	A	G	7: 129,307,632	E22G	probably damaging	Het
Ppp4c	A	G	7: 126,792,059		probably null	Het
Rps15a-ps1	A	G	10: 106,192,635		noncoding transcript	Het
Rps27a	A	G	11: 29,545,933	Y140H	probably benign	Het
Sash1	A	G	10: 8,730,242	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,969,503	D34G	probably damaging	Het
Srsf6	T	C	2: 162,934,716		probably benign	Het
Stk32c	T	C	7: 139,120,788		probably null	Het
Tmem237	A	G	1: 59,119,836		probably benign	Het
Ttc19	A	G	11: 62,285,927		probably null	Het
Ttf2	T	C	3: 100,962,761	D332G	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vcan	A	G	13: 89,725,486	V83A	probably damaging	Het
Vmn1r192	T	A	13: 22,187,295	I252F	probably damaging	Het
Vmn2r101	A	T	17: 19,612,041	R766S	probably damaging	Het
Xndc1	T	A	7: 102,081,487	L288M	possibly damaging	Het
Zfa-ps	A	T	10: 52,543,711		noncoding transcript	Het

Other mutations in Chrna9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Chrna9	APN	5	65969257	missense	probably benign	0.25
IGL00742:Chrna9	APN	5	65971115	missense	probably benign	0.12
IGL01611:Chrna9	APN	5	65970944	missense	probably damaging	1.00
IGL02376:Chrna9	APN	5	65971159	missense	probably damaging	1.00
R0403:Chrna9	UTSW	5	65967892	missense	possibly damaging	0.89
R1506:Chrna9	UTSW	5	65969136	missense	probably benign	0.19
R2943:Chrna9	UTSW	5	65977095	missense	probably damaging	1.00
R4243:Chrna9	UTSW	5	65935036	critical splice donor site	probably null
R4607:Chrna9	UTSW	5	65976735	missense	possibly damaging	0.77
R4737:Chrna9	UTSW	5	65967871	missense	probably damaging	1.00
R4814:Chrna9	UTSW	5	65977149	missense	probably damaging	1.00
R4932:Chrna9	UTSW	5	65969190	nonsense	probably null
R5044:Chrna9	UTSW	5	65971016	missense	probably damaging	0.99
R5128:Chrna9	UTSW	5	65971222	missense	probably benign	0.00
R5213:Chrna9	UTSW	5	65971084	nonsense	probably null
R5242:Chrna9	UTSW	5	65977080	missense	probably benign
R6760:Chrna9	UTSW	5	65971228	missense	probably damaging	1.00
R7131:Chrna9	UTSW	5	65977141	missense	possibly damaging	0.92
R9328:Chrna9	UTSW	5	65971226	missense	probably damaging	1.00
R9506:Chrna9	UTSW	5	65970870	missense	probably damaging	1.00
Z1177:Chrna9	UTSW	5	65971220	missense	probably damaging	1.00
Z1187:Chrna9	UTSW	5	65976780	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGTCCAACCTGAAAGCATCC -3'
(R):5'- TGAACTCAAACACTGGTGGAG -3'

Sequencing Primer
(F):5'- GCATCCAGAAACAAAGACCTTTCCAG -3'
(R):5'- TCAAACACTGGTGGAGATCAC -3'

Posted On

2015-06-20