Mutagenetix > Incidental Mutation

Incidental Mutation 'R9052:Or1n1b'

688426

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

068878-MU

Accession Numbers

Essential gene?

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

Stock #

R9052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36779923-36780858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36780105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 252 (T252A)

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: T252A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097726
Gene: ENSMUSG00000075382
AA Change: T252A

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: T252A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217215
AA Change: T252A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,778,031 (GRCm39)	E71G	probably damaging	Het
2610021A01Rik	G	T	7: 41,275,449 (GRCm39)	G384V	probably benign	Het
4931406B18Rik	T	A	7: 43,147,631 (GRCm39)	R247*	probably null	Het
Abca4	G	T	3: 121,940,908 (GRCm39)	V1576F	possibly damaging	Het
Acsl6	A	T	11: 54,232,615 (GRCm39)	T489S	possibly damaging	Het
Adcy8	C	T	15: 64,792,764 (GRCm39)	R64H	probably benign	Het
Atad2b	C	A	12: 5,015,982 (GRCm39)	F569L	probably damaging	Het
Atp2c1	A	T	9: 105,330,032 (GRCm39)	I266N	probably damaging	Het
Atp8a1	A	G	5: 67,936,301 (GRCm39)		probably null	Het
Coch	T	C	12: 51,640,408 (GRCm39)	M1T	probably null	Het
Col5a3	C	A	9: 20,710,733 (GRCm39)	R537L	unknown	Het
Crb1	C	T	1: 139,171,161 (GRCm39)	R743Q	possibly damaging	Het
Crybg2	T	C	4: 133,803,035 (GRCm39)	F889L	probably damaging	Het
Cyp4f15	C	T	17: 32,911,589 (GRCm39)	T157I	probably damaging	Het
D630045J12Rik	G	T	6: 38,154,544 (GRCm39)	Q1212K	probably damaging	Het
Dennd1a	A	G	2: 37,911,463 (GRCm39)	Y175H	probably damaging	Het
Dhcr7	C	A	7: 143,395,060 (GRCm39)	T192K	possibly damaging	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dmpk	G	A	7: 18,821,614 (GRCm39)	V291M	probably damaging	Het
Dnajc6	T	C	4: 101,496,617 (GRCm39)	V928A	probably damaging	Het
Dst	A	G	1: 34,206,045 (GRCm39)	Y859C	probably damaging	Het
Dst	C	T	1: 34,236,411 (GRCm39)	Q1592*	probably null	Het
Gm10226	T	A	17: 21,910,959 (GRCm39)	C65S	possibly damaging	Het
Helz2	T	C	2: 180,881,968 (GRCm39)	K275R	possibly damaging	Het
Hltf	A	G	3: 20,152,246 (GRCm39)	T581A	probably damaging	Het
Ighv1-24	C	T	12: 114,736,555 (GRCm39)	C115Y	probably damaging	Het
Il18	C	T	9: 50,489,090 (GRCm39)	L40F	possibly damaging	Het
Isg20	A	G	7: 78,566,390 (GRCm39)	D113G	probably damaging	Het
Itgb3	A	T	11: 104,524,413 (GRCm39)	D183V	probably damaging	Het
Kif12	C	T	4: 63,090,068 (GRCm39)	V28M	probably damaging	Het
Manbal	T	C	2: 157,221,107 (GRCm39)	L28P	probably damaging	Het
Masp1	T	A	16: 23,339,350 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,501,463 (GRCm39)	T72A	probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mrps5	G	A	2: 127,433,876 (GRCm39)		probably benign	Het
Ms4a1	T	A	19: 11,233,954 (GRCm39)	T101S	probably benign	Het
Myo3b	A	G	2: 70,062,747 (GRCm39)	M344V	probably benign	Het
Naaladl1	T	G	19: 6,158,716 (GRCm39)	F283V	probably benign	Het
Nacc1	A	C	8: 85,403,377 (GRCm39)	V166G	probably damaging	Het
Nwd2	A	T	5: 63,961,773 (GRCm39)	R452S	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or5k16	T	C	16: 58,736,561 (GRCm39)	T148A	probably benign	Het
Or6c214	C	G	10: 129,591,094 (GRCm39)	C75S	possibly damaging	Het
Pik3cg	T	C	12: 32,245,708 (GRCm39)	I847V	possibly damaging	Het
Plcz1	G	A	6: 139,968,905 (GRCm39)	H178Y	probably damaging	Het
Prkdc	T	A	16: 15,508,160 (GRCm39)	M937K	probably benign	Het
Prr14l	A	T	5: 32,987,478 (GRCm39)	C672*	probably null	Het
Rasl11a	C	A	5: 146,782,107 (GRCm39)	D27E	probably benign	Het
Rbm27	T	C	18: 42,465,893 (GRCm39)	S860P	probably damaging	Het
Rfxap	G	A	3: 54,715,155 (GRCm39)		probably benign	Het
Rhbdf2	A	C	11: 116,494,758 (GRCm39)	L306R	probably benign	Het
Rigi	C	A	4: 40,208,459 (GRCm39)	V826L	probably benign	Het
Rnf123	A	T	9: 107,936,930 (GRCm39)	V875E	probably damaging	Het
Sh3bp2	A	G	5: 34,709,164 (GRCm39)		probably benign	Het
Slc7a9	A	G	7: 35,153,017 (GRCm39)	K145R	probably benign	Het
Slco5a1	A	T	1: 13,060,397 (GRCm39)	V108E	possibly damaging	Het
Stat2	A	G	10: 128,117,538 (GRCm39)	E352G	probably damaging	Het
Synj1	A	T	16: 90,735,728 (GRCm39)	S1408R	probably benign	Het
Tent5c	A	T	3: 100,380,618 (GRCm39)	I46K	probably benign	Het
Tgs1	T	A	4: 3,585,166 (GRCm39)	M102K	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Ttc23	C	A	7: 67,342,687 (GRCm39)	C268*	probably null	Het
Uhrf2	T	C	19: 30,070,236 (GRCm39)	F795S	probably damaging	Het
Urgcp	A	G	11: 5,673,153 (GRCm39)	W41R	probably damaging	Het
Uso1	G	T	5: 92,328,422 (GRCm39)	V340F	probably damaging	Het
Vta1	A	C	10: 14,551,692 (GRCm39)	I169R	probably benign	Het
Zfp317	A	G	9: 19,556,568 (GRCm39)	I59V	probably benign	Het
Zfp799	G	A	17: 33,039,786 (GRCm39)	T160I	probably benign	Het
Zfp955a	G	T	17: 33,461,279 (GRCm39)	H284Q	possibly 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
R0101:Or1n1b	UTSW	2	36,780,138 (GRCm39)	missense	probably damaging	1.00
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
X0017:Or1n1b	UTSW	2	36,779,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGGTTAGCAAGCAATCATTTCC -3'
(R):5'- GCTTTCATGCTCAGACACTCATG -3'

Sequencing Primer
(F):5'- TTAAACATTGCTCTTGCTAAGGAG -3'
(R):5'- TCATGTCAATGAGTTAGTGCTTTC -3'

Posted On

2021-11-19