Mutagenetix > Incidental Mutation

Incidental Mutation 'R4607:Chrna9'

346068

Institutional Source

Beutler Lab

Gene Symbol

Chrna9

Ensembl Gene

ENSMUSG00000029205

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 9

Synonyms

Acra9, 2410015I05Rik, Gm8311

MMRRC Submission

041818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4607 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66092264-66134669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66134078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 310 (I310V)

Ref Sequence

ENSEMBL: ENSMUSP00000031108 (fasta)

Gene Model

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

AlphaFold

G3X8Z7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031108
AA Change: I310V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031108
Gene: ENSMUSG00000029205
AA Change: I310V

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: ENSMUST00000126313
AA Change: I49V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201664

Meta Mutation Damage Score

0.0759

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (65/67)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adgra3	A	C	5: 50,128,081 (GRCm39)	V800G	probably damaging	Het
Aldh1a1	A	T	19: 20,599,051 (GRCm39)	Y154F	probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Cpeb3	A	G	19: 37,152,239 (GRCm39)	S46P	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlgap5	A	G	14: 47,650,475 (GRCm39)	I151T	possibly damaging	Het
Dsg4	C	T	18: 20,604,302 (GRCm39)	T923M	probably damaging	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
Erlin1	C	T	19: 44,051,474 (GRCm39)	V76M	probably damaging	Het
Fam161a	G	A	11: 22,970,710 (GRCm39)	S296N	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gna14	A	G	19: 16,511,075 (GRCm39)		probably null	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ipo11	A	G	13: 107,037,319 (GRCm39)	S175P	probably damaging	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Map3k2	T	C	18: 32,333,030 (GRCm39)	L68P	probably damaging	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Mink1	A	G	11: 70,496,893 (GRCm39)	E417G	possibly damaging	Het
Myrf	G	T	19: 10,206,431 (GRCm39)	D29E	probably damaging	Het
Nelfcd	T	A	2: 174,264,955 (GRCm39)	D215E	probably benign	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Or8g32	T	C	9: 39,306,031 (GRCm39)	*312Q	probably null	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdh9	T	A	14: 93,253,009 (GRCm39)	N1218I	probably benign	Het
Pcdhga6	A	G	18: 37,841,671 (GRCm39)	N464D	probably damaging	Het
Pramel52-ps	G	T	5: 94,531,387 (GRCm39)	R90S	probably benign	Het
Rdx	T	A	9: 51,980,137 (GRCm39)	S243R	probably damaging	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slit1	C	A	19: 41,605,232 (GRCm39)	R873L	probably benign	Het
Spata31e3	G	A	13: 50,399,542 (GRCm39)	T928I	possibly damaging	Het
Strc	T	A	2: 121,203,426 (GRCm39)	I1130F	probably benign	Het
Tlk2	T	A	11: 105,145,844 (GRCm39)	L350Q	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Trav15-1-dv6-1	T	A	14: 53,797,511 (GRCm39)	H53Q	probably benign	Het
Trbv24	T	C	6: 41,195,335 (GRCm39)		probably benign	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp512b	C	A	2: 181,230,567 (GRCm39)	R441L	probably damaging	Het

Other mutations in Chrna9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Chrna9	APN	5	66,126,600 (GRCm39)	missense	probably benign	0.25
IGL00742:Chrna9	APN	5	66,128,458 (GRCm39)	missense	probably benign	0.12
IGL01611:Chrna9	APN	5	66,128,287 (GRCm39)	missense	probably damaging	1.00
IGL02376:Chrna9	APN	5	66,128,502 (GRCm39)	missense	probably damaging	1.00
R0403:Chrna9	UTSW	5	66,125,235 (GRCm39)	missense	possibly damaging	0.89
R1506:Chrna9	UTSW	5	66,126,479 (GRCm39)	missense	probably benign	0.19
R2943:Chrna9	UTSW	5	66,134,438 (GRCm39)	missense	probably damaging	1.00
R4243:Chrna9	UTSW	5	66,092,379 (GRCm39)	critical splice donor site	probably null
R4290:Chrna9	UTSW	5	66,134,481 (GRCm39)	missense	probably benign	0.11
R4737:Chrna9	UTSW	5	66,125,214 (GRCm39)	missense	probably damaging	1.00
R4814:Chrna9	UTSW	5	66,134,492 (GRCm39)	missense	probably damaging	1.00
R4932:Chrna9	UTSW	5	66,126,533 (GRCm39)	nonsense	probably null
R5044:Chrna9	UTSW	5	66,128,359 (GRCm39)	missense	probably damaging	0.99
R5128:Chrna9	UTSW	5	66,128,565 (GRCm39)	missense	probably benign	0.00
R5213:Chrna9	UTSW	5	66,128,427 (GRCm39)	nonsense	probably null
R5242:Chrna9	UTSW	5	66,134,423 (GRCm39)	missense	probably benign
R6760:Chrna9	UTSW	5	66,128,571 (GRCm39)	missense	probably damaging	1.00
R7131:Chrna9	UTSW	5	66,134,484 (GRCm39)	missense	possibly damaging	0.92
R9328:Chrna9	UTSW	5	66,128,569 (GRCm39)	missense	probably damaging	1.00
R9506:Chrna9	UTSW	5	66,128,213 (GRCm39)	missense	probably damaging	1.00
Z1177:Chrna9	UTSW	5	66,128,563 (GRCm39)	missense	probably damaging	1.00
Z1187:Chrna9	UTSW	5	66,134,123 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCACAAAGTTCAAGTACACACTTTG -3'
(R):5'- TTGGACCCTGGAAGTTTGCC -3'

Sequencing Primer
(F):5'- CAAGTACACACTTTGCTTTGGG -3'
(R):5'- TGCCATAAACCTTCGTGATTTG -3'

Posted On

2015-09-25