Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01787:Or2n1d'

155083

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2n1d

Ensembl Gene

ENSMUSG00000096840

Gene Name

olfactory receptor family 2 subfamily N member 1D

Synonyms

Olfr136, MOR256-7, GA_x6K02T2PSCP-2779375-2780313

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL01787

Quality Score

Status

Chromosome

Chromosomal Location

38646050-38646988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38646470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 141 (C141S)

Ref Sequence

ENSEMBL: ENSMUSP00000149856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077203] [ENSMUST00000208525] [ENSMUST00000208539] [ENSMUST00000214035] [ENSMUST00000216963]

AlphaFold

Q8VG72

Predicted Effect

probably damaging
Transcript: ENSMUST00000077203
AA Change: C141S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076443
Gene: ENSMUSG00000096840
AA Change: C141S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.6e-48	PFAM
Pfam:7tm_1	41	290	7.1e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208525
AA Change: C141S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208539
AA Change: C141S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214035
AA Change: C141S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216963
AA Change: C141S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,580,887 (GRCm39)	S1772P	probably benign	Het
Cstdc3	T	A	16: 36,131,591 (GRCm39)	Y34N	probably damaging	Het
Epsti1	T	C	14: 78,210,052 (GRCm39)		probably null	Het
Mtrr	A	T	13: 68,719,266 (GRCm39)	L325Q	probably damaging	Het
Neb	T	C	2: 52,186,367 (GRCm39)	K902E	possibly damaging	Het
Nfkbie	T	C	17: 45,867,189 (GRCm39)	L108P	probably damaging	Het
Or4c52	A	T	2: 89,845,655 (GRCm39)	Y127F	probably damaging	Het
Pcdh15	A	G	10: 74,286,115 (GRCm39)	D712G	probably benign	Het
Polr3k	T	C	2: 181,506,251 (GRCm39)		probably benign	Het
Shkbp1	A	C	7: 27,041,875 (GRCm39)	F660V	possibly damaging	Het
Smchd1	T	C	17: 71,698,413 (GRCm39)	D1121G	probably damaging	Het
Srgap3	A	T	6: 112,699,983 (GRCm39)	D998E	probably benign	Het
Stab1	T	C	14: 30,861,765 (GRCm39)	D14G	probably damaging	Het
Tap1	T	C	17: 34,415,578 (GRCm39)	S641P	probably benign	Het
Tgm3	C	T	2: 129,889,660 (GRCm39)	S618F	possibly damaging	Het
Tgm6	T	C	2: 129,993,354 (GRCm39)		probably benign	Het
Tmco5	A	T	2: 116,717,781 (GRCm39)	E194D	probably damaging	Het
Treml4	T	A	17: 48,571,732 (GRCm39)	V45E	probably damaging	Het
Uggt2	A	T	14: 119,319,146 (GRCm39)	M292K	probably damaging	Het
Usp5	A	T	6: 124,801,189 (GRCm39)	D179E	possibly damaging	Het
Ythdf1	A	G	2: 180,553,486 (GRCm39)	L216P	probably damaging	Het
Zfp948	C	T	17: 21,807,333 (GRCm39)	A175V	probably benign	Het

Other mutations in Or2n1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Or2n1d	APN	17	38,646,848 (GRCm39)	missense	probably benign	0.00
IGL02480:Or2n1d	APN	17	38,646,314 (GRCm39)	missense	probably benign	0.32
IGL02603:Or2n1d	APN	17	38,646,404 (GRCm39)	missense	probably damaging	1.00
IGL03122:Or2n1d	APN	17	38,646,192 (GRCm39)	missense	probably benign	0.01
BB009:Or2n1d	UTSW	17	38,646,146 (GRCm39)	missense	probably benign	0.01
BB019:Or2n1d	UTSW	17	38,646,146 (GRCm39)	missense	probably benign	0.01
R0295:Or2n1d	UTSW	17	38,646,182 (GRCm39)	missense	probably damaging	1.00
R0684:Or2n1d	UTSW	17	38,646,735 (GRCm39)	missense	probably benign	0.11
R1874:Or2n1d	UTSW	17	38,646,860 (GRCm39)	missense	probably damaging	1.00
R3436:Or2n1d	UTSW	17	38,646,323 (GRCm39)	missense	probably damaging	1.00
R3437:Or2n1d	UTSW	17	38,646,323 (GRCm39)	missense	probably damaging	1.00
R4714:Or2n1d	UTSW	17	38,646,731 (GRCm39)	missense	possibly damaging	0.65
R4715:Or2n1d	UTSW	17	38,646,731 (GRCm39)	missense	possibly damaging	0.65
R4716:Or2n1d	UTSW	17	38,646,731 (GRCm39)	missense	possibly damaging	0.65
R4878:Or2n1d	UTSW	17	38,646,518 (GRCm39)	missense	probably benign
R5296:Or2n1d	UTSW	17	38,646,347 (GRCm39)	nonsense	probably null
R5370:Or2n1d	UTSW	17	38,646,335 (GRCm39)	nonsense	probably null
R5413:Or2n1d	UTSW	17	38,646,515 (GRCm39)	missense	probably benign	0.03
R5988:Or2n1d	UTSW	17	38,646,911 (GRCm39)	missense	probably damaging	1.00
R6156:Or2n1d	UTSW	17	38,646,064 (GRCm39)	missense	probably damaging	0.99
R6550:Or2n1d	UTSW	17	38,646,896 (GRCm39)	missense	possibly damaging	0.65
R7395:Or2n1d	UTSW	17	38,646,755 (GRCm39)	nonsense	probably null
R7417:Or2n1d	UTSW	17	38,646,183 (GRCm39)	missense	probably damaging	1.00
R7746:Or2n1d	UTSW	17	38,646,285 (GRCm39)	missense	probably benign	0.16
R7747:Or2n1d	UTSW	17	38,646,285 (GRCm39)	missense	probably benign	0.16
R7821:Or2n1d	UTSW	17	38,646,855 (GRCm39)	missense	probably benign	0.13
R7932:Or2n1d	UTSW	17	38,646,146 (GRCm39)	missense	probably benign	0.01
R8409:Or2n1d	UTSW	17	38,646,197 (GRCm39)	missense	probably benign	0.09
R8911:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R8912:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R8913:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R8914:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R8968:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9006:Or2n1d	UTSW	17	38,646,723 (GRCm39)	missense	possibly damaging	0.84
R9044:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9110:Or2n1d	UTSW	17	38,646,434 (GRCm39)	missense	probably damaging	1.00
R9155:Or2n1d	UTSW	17	38,646,224 (GRCm39)	missense	probably damaging	0.99
R9279:Or2n1d	UTSW	17	38,646,414 (GRCm39)	missense	probably damaging	0.99
R9289:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9295:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9317:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9318:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9348:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9409:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9410:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9411:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9412:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9413:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9512:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9522:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9524:Or2n1d	UTSW	17	38,646,540 (GRCm39)	nonsense	probably null
R9547:Or2n1d	UTSW	17	38,646,341 (GRCm39)	missense	possibly damaging	0.80
R9580:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
V5088:Or2n1d	UTSW	17	38,646,050 (GRCm39)	start codon destroyed	probably null	0.99
Z1176:Or2n1d	UTSW	17	38,646,243 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04