Mutagenetix > Incidental Mutation

Incidental Mutation 'R5301:Or9i14'

404273

Institutional Source

Beutler Lab

Gene Symbol

Or9i14

Ensembl Gene

ENSMUSG00000045395

Gene Name

olfactory receptor family 9 subfamily I member 14

Synonyms

GA_x6K02T2RE5P-4147744-4146800, Olfr1499, MOR211-2

MMRRC Submission

042884-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R5301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13792008-13792952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13792933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 7 (T7I)

Ref Sequence

ENSEMBL: ENSMUSP00000150330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055672] [ENSMUST00000216659]

AlphaFold

Q8VG65

Predicted Effect

probably damaging
Transcript: ENSMUST00000055672
AA Change: T7I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059747
Gene: ENSMUSG00000045395
AA Change: T7I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.6e-44	PFAM
Pfam:7tm_1	41	290	1.5e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216659
AA Change: T7I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.3162

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (52/56)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,896,502 (GRCm39)	V578A	probably damaging	Het
Abcb11	T	C	2: 69,117,191 (GRCm39)	I486V	probably damaging	Het
Abcc9	G	A	6: 142,536,207 (GRCm39)	T1509I	probably benign	Het
Akr1c20	T	A	13: 4,573,279 (GRCm39)	D12V	probably damaging	Het
Asb1	A	G	1: 91,482,475 (GRCm39)	Y66C	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Bcl10	A	G	3: 145,636,342 (GRCm39)	D80G	probably damaging	Het
Bdnf	T	C	2: 109,553,884 (GRCm39)	V46A	probably benign	Het
Cyp11a1	A	G	9: 57,926,544 (GRCm39)		probably benign	Het
Cyp3a44	A	G	5: 145,725,326 (GRCm39)	S292P	probably damaging	Het
Desi2	A	G	1: 178,071,952 (GRCm39)	I85M	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock10	T	C	1: 80,625,973 (GRCm39)	D49G	probably benign	Het
Epcam	T	A	17: 87,944,305 (GRCm39)	L20Q	possibly damaging	Het
Ercc4	T	C	16: 12,948,550 (GRCm39)	V589A	probably damaging	Het
Fcgbp	A	T	7: 27,793,099 (GRCm39)	K1034N	possibly damaging	Het
Fras1	C	T	5: 96,805,125 (GRCm39)	L1256F	possibly damaging	Het
Gata5	T	C	2: 179,975,786 (GRCm39)	Y126C	probably damaging	Het
Gja1	T	C	10: 56,264,475 (GRCm39)	L278P	probably damaging	Het
Gm11596	C	A	11: 99,683,847 (GRCm39)	R91L	unknown	Het
Gm29125	A	T	1: 80,362,154 (GRCm39)		noncoding transcript	Het
Hcrtr1	G	T	4: 130,031,463 (GRCm39)		probably null	Het
Ifi207	G	A	1: 173,556,977 (GRCm39)	S587L	possibly damaging	Het
Ino80d	T	C	1: 63,113,578 (GRCm39)	T291A	probably benign	Het
Itgb3	A	G	11: 104,524,480 (GRCm39)		probably null	Het
Kif26b	A	G	1: 178,358,233 (GRCm39)	S115G	unknown	Het
Klc3	T	C	7: 19,130,274 (GRCm39)	Y301C	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Meioc	A	T	11: 102,570,871 (GRCm39)	R867S	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mthfd2	C	A	6: 83,287,465 (GRCm39)	G200V	probably damaging	Het
Nrap	A	G	19: 56,367,541 (GRCm39)	I312T	probably damaging	Het
Nrp1	T	G	8: 129,160,678 (GRCm39)		probably null	Het
Obscn	A	G	11: 59,026,234 (GRCm39)	L323P	probably damaging	Het
Or11g1	T	C	14: 50,651,030 (GRCm39)	S10P	probably benign	Het
Or1b1	C	T	2: 36,995,210 (GRCm39)	V151M	probably benign	Het
Pkn2	A	C	3: 142,544,967 (GRCm39)		probably null	Het
Ppp1r18	A	G	17: 36,179,237 (GRCm39)	R371G	probably benign	Het
Prkar2b	A	C	12: 32,025,927 (GRCm39)	V31G	probably damaging	Het
Reg3b	T	A	6: 78,348,243 (GRCm39)	M19K	probably damaging	Het
Sec14l2	G	A	11: 4,068,727 (GRCm39)		probably benign	Het
Sgca	C	T	11: 94,854,157 (GRCm39)	R104Q	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Sorcs2	A	G	5: 36,196,734 (GRCm39)	V637A	probably damaging	Het
Tdrd9	T	A	12: 112,002,963 (GRCm39)		probably null	Het
Tmem181a	T	C	17: 6,346,070 (GRCm39)	I229T	possibly damaging	Het
Tmpo	A	T	10: 90,985,650 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,555,384 (GRCm39)	V280A	probably benign	Het
Vmn1r234	G	T	17: 21,449,589 (GRCm39)	V168F	probably benign	Het
Vmn2r96	T	A	17: 18,817,950 (GRCm39)	I701N	probably damaging	Het
Wnt16	T	A	6: 22,297,848 (GRCm39)	M238K	probably damaging	Het
Zfp607b	A	G	7: 27,403,172 (GRCm39)	T543A	probably benign	Het

Other mutations in Or9i14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Or9i14	APN	19	13,792,666 (GRCm39)	missense	probably benign	0.09
IGL01844:Or9i14	APN	19	13,792,180 (GRCm39)	missense	possibly damaging	0.95
IGL03102:Or9i14	APN	19	13,792,735 (GRCm39)	missense	probably damaging	1.00
IGL03352:Or9i14	APN	19	13,792,292 (GRCm39)	missense	probably damaging	1.00
R0218:Or9i14	UTSW	19	13,792,342 (GRCm39)	missense	probably benign	0.19
R0490:Or9i14	UTSW	19	13,792,219 (GRCm39)	missense	probably damaging	1.00
R0682:Or9i14	UTSW	19	13,792,501 (GRCm39)	missense	possibly damaging	0.94
R1301:Or9i14	UTSW	19	13,792,726 (GRCm39)	missense	probably damaging	1.00
R1328:Or9i14	UTSW	19	13,792,900 (GRCm39)	missense	probably benign	0.01
R2100:Or9i14	UTSW	19	13,792,600 (GRCm39)	missense	possibly damaging	0.95
R3701:Or9i14	UTSW	19	13,792,712 (GRCm39)	missense	probably benign	0.03
R4563:Or9i14	UTSW	19	13,792,646 (GRCm39)	missense	probably benign	0.01
R4709:Or9i14	UTSW	19	13,792,814 (GRCm39)	missense	possibly damaging	0.94
R5231:Or9i14	UTSW	19	13,792,711 (GRCm39)	missense	probably damaging	0.99
R5343:Or9i14	UTSW	19	13,792,324 (GRCm39)	missense	probably damaging	1.00
R6268:Or9i14	UTSW	19	13,792,671 (GRCm39)	nonsense	probably null
R6442:Or9i14	UTSW	19	13,792,992 (GRCm39)	start gained	probably benign
R7132:Or9i14	UTSW	19	13,792,786 (GRCm39)	missense	probably benign	0.09
R7764:Or9i14	UTSW	19	13,792,111 (GRCm39)	missense	probably benign	0.01
R7943:Or9i14	UTSW	19	13,792,600 (GRCm39)	missense	probably damaging	0.99
R8703:Or9i14	UTSW	19	13,792,105 (GRCm39)	missense	probably damaging	1.00
R8736:Or9i14	UTSW	19	13,792,358 (GRCm39)	missense	probably benign	0.05
R9069:Or9i14	UTSW	19	13,792,735 (GRCm39)	missense	probably damaging	1.00
R9177:Or9i14	UTSW	19	13,792,388 (GRCm39)	missense	probably damaging	1.00
R9258:Or9i14	UTSW	19	13,792,099 (GRCm39)	nonsense	probably null
R9268:Or9i14	UTSW	19	13,792,388 (GRCm39)	missense	probably damaging	1.00
Z1088:Or9i14	UTSW	19	13,792,912 (GRCm39)	missense	probably damaging	1.00
Z1177:Or9i14	UTSW	19	13,792,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACACTGGTGTAGCAGGC -3'
(R):5'- GCAAGCACAAAAGTGGCATC -3'

Sequencing Primer
(F):5'- ACTGGTGTAGCAGGCATCCAAC -3'
(R):5'- GCACAAAAGTGGCATCTTCATTTTCC -3'

Posted On

2016-07-22