Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01480:Or1p1c'

88578

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or1p1c

Ensembl Gene

ENSMUSG00000070375

Gene Name

olfactory receptor family 1 subfamily P member 1C

Synonyms

Olfr406, MOR133-1, Olfr406-ps, GA_x6K02T2P1NL-4415162-4416133

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL01480

Quality Score

Status

Chromosome

Chromosomal Location

74160217-74161188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74160427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 71 (I71L)

Ref Sequence

ENSEMBL: ENSMUSP00000148929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133561] [ENSMUST00000214303] [ENSMUST00000217016]

AlphaFold

Q7TRX0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127098

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133561
AA Change: I71L

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125963
Gene: ENSMUSG00000070375
AA Change: I71L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	3.5e-56	PFAM
Pfam:7tm_1	41	292	3e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214303
AA Change: I71L

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217016
AA Change: I71L

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	A	12: 88,423,635 (GRCm39)	C379*	probably null	Het
Ankrd10	A	G	8: 11,685,592 (GRCm39)	V9A	probably benign	Het
Ankrd13a	A	T	5: 114,938,879 (GRCm39)		probably benign	Het
Bbs1	T	C	19: 4,944,421 (GRCm39)	K403E	probably damaging	Het
Ccn3	A	G	15: 54,615,687 (GRCm39)	Y284C	probably damaging	Het
Cd200r2	A	G	16: 44,729,629 (GRCm39)	I95V	probably null	Het
Cyba	T	C	8: 123,151,684 (GRCm39)	E171G	probably benign	Het
Dnah2	T	A	11: 69,349,197 (GRCm39)	M2480L	possibly damaging	Het
Fxyd7	A	T	7: 30,746,799 (GRCm39)	Y20*	probably null	Het
Il22ra1	T	C	4: 135,472,112 (GRCm39)	V216A	probably benign	Het
Mapk10	G	A	5: 103,074,018 (GRCm39)		probably benign	Het
Mgat5b	C	A	11: 116,869,278 (GRCm39)	T607K	probably benign	Het
Optn	G	A	2: 5,050,829 (GRCm39)	S184L	probably benign	Het
Or10d5	G	A	9: 39,861,284 (GRCm39)	A261V	probably benign	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or7a42	T	C	10: 78,791,978 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,321,078 (GRCm39)	L462P	possibly damaging	Het
Prkca	C	T	11: 108,083,027 (GRCm39)	V73M	probably damaging	Het
Prkca	A	G	11: 107,877,115 (GRCm39)	F339L	possibly damaging	Het
Ptch2	T	C	4: 116,971,279 (GRCm39)	V1062A	probably damaging	Het
Serpina11	T	A	12: 103,949,110 (GRCm39)	K354*	probably null	Het
Sf1	T	C	19: 6,422,052 (GRCm39)		probably benign	Het
Stam2	A	G	2: 52,606,451 (GRCm39)	S112P	probably benign	Het
Tlr5	G	A	1: 182,801,064 (GRCm39)	E123K	probably benign	Het
Tpp1	T	C	7: 105,398,260 (GRCm39)	E301G	probably damaging	Het
Vmn2r58	T	A	7: 41,514,116 (GRCm39)	I176F	probably benign	Het

Other mutations in Or1p1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Or1p1c	APN	11	74,160,325 (GRCm39)	missense	probably benign	0.01
IGL02138:Or1p1c	APN	11	74,160,544 (GRCm39)	missense	probably benign	0.01
IGL02986:Or1p1c	APN	11	74,160,928 (GRCm39)	missense	possibly damaging	0.82
R0018:Or1p1c	UTSW	11	74,160,934 (GRCm39)	missense	probably benign	0.39
R1822:Or1p1c	UTSW	11	74,161,066 (GRCm39)	missense	probably benign	0.11
R1823:Or1p1c	UTSW	11	74,161,043 (GRCm39)	missense	probably damaging	1.00
R1956:Or1p1c	UTSW	11	74,160,670 (GRCm39)	missense	probably damaging	1.00
R2017:Or1p1c	UTSW	11	74,161,159 (GRCm39)	missense	probably benign
R2879:Or1p1c	UTSW	11	74,161,049 (GRCm39)	missense	probably damaging	1.00
R3854:Or1p1c	UTSW	11	74,161,105 (GRCm39)	nonsense	probably null
R4750:Or1p1c	UTSW	11	74,160,246 (GRCm39)	missense	probably benign	0.00
R6076:Or1p1c	UTSW	11	74,161,088 (GRCm39)	missense	probably damaging	1.00
R6257:Or1p1c	UTSW	11	74,160,833 (GRCm39)	missense	probably damaging	1.00
R6431:Or1p1c	UTSW	11	74,160,235 (GRCm39)	missense	possibly damaging	0.95
R7032:Or1p1c	UTSW	11	74,160,428 (GRCm39)	missense	possibly damaging	0.95
R7216:Or1p1c	UTSW	11	74,160,550 (GRCm39)	missense	probably damaging	1.00
R7429:Or1p1c	UTSW	11	74,160,579 (GRCm39)	missense	probably damaging	1.00
R8144:Or1p1c	UTSW	11	74,160,384 (GRCm39)	missense	probably damaging	0.98
R8161:Or1p1c	UTSW	11	74,160,544 (GRCm39)	missense	probably benign	0.01
R8847:Or1p1c	UTSW	11	74,160,443 (GRCm39)	missense	probably damaging	1.00
R8872:Or1p1c	UTSW	11	74,160,120 (GRCm39)	splice site	probably benign
R8977:Or1p1c	UTSW	11	74,160,304 (GRCm39)	missense	probably benign	0.02
R9049:Or1p1c	UTSW	11	74,161,115 (GRCm39)	missense	possibly damaging	0.80
R9336:Or1p1c	UTSW	11	74,160,743 (GRCm39)	missense	probably damaging	0.98
R9596:Or1p1c	UTSW	11	74,160,289 (GRCm39)	missense	probably benign
R9771:Or1p1c	UTSW	11	74,160,635 (GRCm39)	missense	probably benign	0.05

Posted On

2013-11-18