Mutagenetix > Incidental Mutation

Incidental Mutation 'R0944:Or1n1b'

81990

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

039083-MU

Accession Numbers

Essential gene?

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

Stock #

R0944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36779923-36780858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36780698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 54 (H54R)

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: H54R

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

SMART Domains

Protein: ENSMUSP00000097726
Gene: ENSMUSG00000075382
AA Change: H54R

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: H54R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217215
AA Change: H54R

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

Meta Mutation Damage Score

0.3705

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	G	A	12: 107,455,268 (GRCm39)	R118K	unknown	Het
Abcc6	T	A	7: 45,664,929 (GRCm39)	I301F	possibly damaging	Het
Akap9	C	A	5: 4,114,742 (GRCm39)		probably null	Het
Alg6	A	G	4: 99,650,297 (GRCm39)	I506V	probably benign	Het
B3gat1	C	T	9: 26,668,237 (GRCm39)	R276C	probably damaging	Het
Camk1	A	G	6: 113,315,352 (GRCm39)	Y105H	probably damaging	Het
Ccdc81	T	C	7: 89,515,777 (GRCm39)	N634S	probably damaging	Het
Clcn1	C	A	6: 42,290,075 (GRCm39)	Q837K	probably benign	Het
Clec16a	A	G	16: 10,506,510 (GRCm39)		probably benign	Het
Col22a1	T	C	15: 71,753,511 (GRCm39)	I130V	probably benign	Het
Coro2b	T	C	9: 62,335,263 (GRCm39)	S308G	probably benign	Het
Cpxm1	A	G	2: 130,239,423 (GRCm39)	W2R	probably damaging	Het
Csmd3	T	C	15: 47,475,227 (GRCm39)	N3364S	probably damaging	Het
Dgkq	A	G	5: 108,804,331 (GRCm39)	V131A	probably damaging	Het
Dnai1	A	G	4: 41,629,997 (GRCm39)	S469G	probably benign	Het
Efcab3	T	G	11: 104,601,556 (GRCm39)		probably null	Het
Eml4	G	A	17: 83,785,489 (GRCm39)	E885K	probably benign	Het
Etfa	A	T	9: 55,396,122 (GRCm39)	I148N	probably damaging	Het
Gpbar1	A	G	1: 74,318,681 (GRCm39)	D308G	probably benign	Het
Gprin3	T	C	6: 59,330,900 (GRCm39)	E469G	possibly damaging	Het
Igkv1-115	T	C	6: 68,138,667 (GRCm39)	V90A	probably damaging	Het
Ints2	A	G	11: 86,135,289 (GRCm39)	V375A	possibly damaging	Het
Mindy3	T	C	2: 12,400,993 (GRCm39)	M242V	possibly damaging	Het
Or11m3	A	G	15: 98,395,565 (GRCm39)	I71V	probably benign	Het
Or5t9	A	C	2: 86,659,281 (GRCm39)	I62L	probably benign	Het
P3h1	G	A	4: 119,095,956 (GRCm39)	E355K	probably benign	Het
Paxbp1	T	C	16: 90,820,315 (GRCm39)	T703A	probably benign	Het
Pcdh15	A	T	10: 74,046,302 (GRCm39)	Y193F	probably damaging	Het
Pdxdc1	A	G	16: 13,656,233 (GRCm39)	V613A	probably damaging	Het
Plekha5	T	C	6: 140,515,922 (GRCm39)		probably benign	Het
Pmel	A	T	10: 128,551,126 (GRCm39)	Q123L	possibly damaging	Het
Prl6a1	T	C	13: 27,502,149 (GRCm39)		probably benign	Het
Rcan1	T	C	16: 92,190,379 (GRCm39)	T187A	probably damaging	Het
Rp1l1	A	G	14: 64,269,681 (GRCm39)	S1756G	probably benign	Het
Runx2	A	T	17: 44,919,123 (GRCm39)	M405K	probably damaging	Het
Serinc5	T	C	13: 92,797,613 (GRCm39)	Y39H	probably damaging	Het
Sgsm1	G	A	5: 113,413,740 (GRCm39)	T676I	probably benign	Het
Slc6a15	G	C	10: 103,245,657 (GRCm39)	V547L	probably benign	Het
Slk	T	C	19: 47,597,432 (GRCm39)	I80T	probably damaging	Het
Spice1	A	G	16: 44,205,124 (GRCm39)	N810S	probably benign	Het
Spred2	A	G	11: 19,951,104 (GRCm39)		probably benign	Het
Tbc1d4	C	G	14: 101,716,656 (GRCm39)		probably benign	Het
Tdrd7	G	A	4: 46,029,762 (GRCm39)	V1032M	probably benign	Het
Tlr11	A	G	14: 50,599,793 (GRCm39)	N593S	probably benign	Het
Trpa1	T	C	1: 14,982,585 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp25	T	C	16: 76,878,335 (GRCm39)		probably benign	Het
Vmn2r97	T	A	17: 19,167,665 (GRCm39)	S640T	probably benign	Het
Zc3h6	A	G	2: 128,848,736 (GRCm39)	Y321C	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	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
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'- CAGGAAGAAGCTGTCCAGATCACC -3'
(R):5'- GTGCCTGCATCTTGCAAATCAACTC -3'

Sequencing Primer
(F):5'- GCTGTCCAGATCACCAAACATC -3'
(R):5'- TCTGACCTACAGATGCTCTAGAC -3'

Posted On

2013-11-08