Mutagenetix > Incidental Mutation

Incidental Mutation 'R0101:Or1n1b'

33184

Institutional Source

Beutler Lab

Gene Symbol

Or1n1b

Ensembl Gene

ENSMUSG00000075382

Gene Name

olfactory receptor family 1 subfamily N member 1B

Synonyms

GA_x6K02T2NLDC-33585366-33584431, Olfr353, MOR127-3

MMRRC Submission

038387-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R0101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36779923-36780858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36780138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 241 (S241P)

Ref Sequence

ENSEMBL: ENSMUSP00000149378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100149] [ENSMUST00000215925] [ENSMUST00000217215]

AlphaFold

Q8VGK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000100149
AA Change: S241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097726
Gene: ENSMUSG00000075382
AA Change: S241P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.3e-56	PFAM
Pfam:7tm_1	39	288	3e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215925
AA Change: S241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217215
AA Change: S241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1954

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,901,739 (GRCm39)	D829N	probably benign	Het
B3galnt1	A	G	3: 69,483,139 (GRCm39)	Y41H	probably benign	Het
Carmil3	A	C	14: 55,735,212 (GRCm39)		probably benign	Het
Cdh17	A	G	4: 11,771,341 (GRCm39)	Q41R	probably benign	Het
Cep43	A	T	17: 8,388,374 (GRCm39)	S76C	possibly damaging	Het
Chrm2	G	T	6: 36,501,430 (GRCm39)	C429F	probably damaging	Het
Cplane1	T	A	15: 8,250,444 (GRCm39)	C1844S	probably benign	Het
Cyld	T	A	8: 89,444,928 (GRCm39)		probably null	Het
Cyp2d11	C	A	15: 82,274,395 (GRCm39)		probably benign	Het
Dnah1	A	G	14: 31,005,856 (GRCm39)	Y2308H	probably damaging	Het
Dnajc27	T	C	12: 4,139,142 (GRCm39)	V60A	probably benign	Het
Dnmbp	A	G	19: 43,862,599 (GRCm39)	V850A	possibly damaging	Het
Emcn	A	T	3: 137,047,001 (GRCm39)	M1L	possibly damaging	Het
Epc1	A	T	18: 6,462,998 (GRCm39)		probably benign	Het
Fbxo21	T	C	5: 118,133,521 (GRCm39)	L310P	probably damaging	Het
Filip1	A	G	9: 79,726,810 (GRCm39)	I603T	probably benign	Het
Fndc3b	A	G	3: 27,512,957 (GRCm39)	V723A	probably damaging	Het
Gemin5	G	A	11: 58,036,322 (GRCm39)	P674S	probably damaging	Het
Gsk3a	T	C	7: 24,928,328 (GRCm39)	D471G	probably benign	Het
Igbp1b	G	A	6: 138,634,658 (GRCm39)	P262L	probably damaging	Het
Itga11	T	C	9: 62,651,768 (GRCm39)	L300S	probably damaging	Het
Itsn2	T	C	12: 4,683,058 (GRCm39)		probably benign	Het
Lhcgr	A	G	17: 89,072,598 (GRCm39)	S150P	probably damaging	Het
Man1a	T	C	10: 53,951,120 (GRCm39)	M1V	probably null	Het
Mical2	C	T	7: 111,936,074 (GRCm39)	R892C	possibly damaging	Het
Mtus2	T	C	5: 148,019,845 (GRCm39)	S747P	probably damaging	Het
Mug1	A	G	6: 121,861,206 (GRCm39)	K1276E	possibly damaging	Het
Pfkfb4	C	G	9: 108,839,711 (GRCm39)	P260R	probably benign	Het
Prkca	A	T	11: 107,948,626 (GRCm39)	L121Q	probably damaging	Het
Prpf40b	T	C	15: 99,204,681 (GRCm39)		probably benign	Het
Ripor2	T	C	13: 24,864,615 (GRCm39)	M215T	probably damaging	Het
Rpn1	A	G	6: 88,070,769 (GRCm39)	D213G	possibly damaging	Het
Rreb1	C	A	13: 38,115,518 (GRCm39)	P959Q	probably benign	Het
Sema5b	T	C	16: 35,483,472 (GRCm39)		probably benign	Het
Slc38a10	A	G	11: 120,041,903 (GRCm39)	M1T	probably null	Het
Slco1c1	G	T	6: 141,477,236 (GRCm39)	L11F	probably damaging	Het
Spef2	T	C	15: 9,713,194 (GRCm39)	T393A	probably damaging	Het
Srp54b	A	G	12: 55,302,405 (GRCm39)		probably benign	Het
St14	G	T	9: 31,008,403 (GRCm39)	N512K	probably benign	Het
Syce1l	T	A	8: 114,382,061 (GRCm39)	S237T	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tamm41	A	T	6: 115,009,207 (GRCm39)	Y129N	probably damaging	Het
Tctn2	T	C	5: 124,753,357 (GRCm39)		noncoding transcript	Het
Tpr	T	C	1: 150,285,053 (GRCm39)		probably benign	Het
Vsig10	T	A	5: 117,473,134 (GRCm39)		probably null	Het
Zfp335	T	C	2: 164,741,910 (GRCm39)	K635R	probably damaging	Het
Zfp541	A	G	7: 15,811,968 (GRCm39)	Y207C	probably damaging	Het

Other mutations in Or1n1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02706:Or1n1b	APN	2	36,780,731 (GRCm39)	missense	probably damaging	1.00
IGL02944:Or1n1b	APN	2	36,780,800 (GRCm39)	missense	possibly damaging	0.83
R0118:Or1n1b	UTSW	2	36,780,035 (GRCm39)	missense	probably benign	0.07
R0276:Or1n1b	UTSW	2	36,780,035 (GRCm39)	missense	probably benign	0.26
R0944:Or1n1b	UTSW	2	36,780,698 (GRCm39)	missense	probably damaging	1.00
R0975:Or1n1b	UTSW	2	36,780,562 (GRCm39)	missense	possibly damaging	0.52
R1895:Or1n1b	UTSW	2	36,780,458 (GRCm39)	missense	possibly damaging	0.92
R1946:Or1n1b	UTSW	2	36,780,458 (GRCm39)	missense	possibly damaging	0.92
R2847:Or1n1b	UTSW	2	36,780,536 (GRCm39)	missense	probably damaging	1.00
R4573:Or1n1b	UTSW	2	36,780,202 (GRCm39)	missense	probably damaging	1.00
R4631:Or1n1b	UTSW	2	36,780,630 (GRCm39)	missense	probably benign	0.01
R4647:Or1n1b	UTSW	2	36,780,663 (GRCm39)	missense	probably benign	0.00
R4918:Or1n1b	UTSW	2	36,780,344 (GRCm39)	missense	probably damaging	0.98
R4967:Or1n1b	UTSW	2	36,780,719 (GRCm39)	missense	probably damaging	1.00
R5102:Or1n1b	UTSW	2	36,780,056 (GRCm39)	missense	possibly damaging	0.87
R5188:Or1n1b	UTSW	2	36,780,405 (GRCm39)	missense	probably benign
R5392:Or1n1b	UTSW	2	36,780,686 (GRCm39)	missense	probably benign	0.34
R5608:Or1n1b	UTSW	2	36,780,527 (GRCm39)	missense	probably damaging	1.00
R6527:Or1n1b	UTSW	2	36,780,594 (GRCm39)	missense	probably benign	0.02
R8508:Or1n1b	UTSW	2	36,780,366 (GRCm39)	missense	probably damaging	1.00
R8820:Or1n1b	UTSW	2	36,780,622 (GRCm39)	missense	probably benign	0.01
R9052:Or1n1b	UTSW	2	36,780,105 (GRCm39)	missense	probably damaging	1.00
X0017:Or1n1b	UTSW	2	36,779,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAATGTGTTTTACTTGACCCTGCAAC -3'
(R):5'- TCAGACACTCATGTCAATGAGTTAGTGC -3'

Sequencing Primer
(F):5'- GGACAATAATCTCTTGGTTAGCAAGC -3'
(R):5'- CATGTCAATGAGTTAGTGCTTTCTG -3'

Posted On

2013-05-09