Mutagenetix > Incidental Mutation

Incidental Mutation 'R9039:Or4c122'

687590

Institutional Source

Beutler Lab

Gene Symbol

Or4c122

Ensembl Gene

ENSMUSG00000099486

Gene Name

olfactory receptor family 4 subfamily C member 122

Synonyms

GA_x6K02T2Q125-50696209-50695274, Olfr1228, MOR233-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9039 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89079065-89080036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89079545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 152 (F152L)

Ref Sequence

ENSEMBL: ENSMUSP00000150878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000190757] [ENSMUST00000215447] [ENSMUST00000216392]

AlphaFold

Q8VGM9

Predicted Effect

probably benign
Transcript: ENSMUST00000190757
AA Change: F164L

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139920
Gene: ENSMUSG00000099486
AA Change: F164L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	51	298	2.6e-27	PFAM
Pfam:7tm_4	150	292	2.9e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215447
AA Change: F152L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000216392
AA Change: F152L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,849 (GRCm39)	V692A	possibly damaging	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Adcy10	T	C	1: 165,345,914 (GRCm39)	I321T	probably damaging	Het
Agbl2	C	T	2: 90,645,730 (GRCm39)	T821I	probably benign	Het
Alpk1	A	G	3: 127,473,192 (GRCm39)	L937P	probably damaging	Het
Atp5f1b	A	G	10: 127,919,767 (GRCm39)	D45G	probably benign	Het
C8a	C	T	4: 104,679,200 (GRCm39)	R530H	probably benign	Het
Cacna1s	T	C	1: 136,016,057 (GRCm39)	S694P	probably benign	Het
Cdca7	T	A	2: 72,312,856 (GRCm39)	D162E	probably benign	Het
Cep78	G	T	19: 15,936,907 (GRCm39)	Q600K	probably benign	Het
Cert1	C	T	13: 96,679,717 (GRCm39)	P16S	probably benign	Het
Coq8b	A	C	7: 26,950,011 (GRCm39)	R363S	probably benign	Het
Cpne3	A	T	4: 19,540,770 (GRCm39)	C202S	probably damaging	Het
Csmd3	G	T	15: 47,483,308 (GRCm39)		probably benign	Het
Cyp4a14	A	T	4: 115,344,461 (GRCm39)	V468E	probably damaging	Het
Dchs1	A	T	7: 105,405,215 (GRCm39)	D2442E	probably benign	Het
Dip2a	T	C	10: 76,163,553 (GRCm39)	Y49C	probably benign	Het
Dop1a	A	G	9: 86,382,870 (GRCm39)	R268G	probably damaging	Het
Eid3	C	T	10: 82,703,565 (GRCm39)	S342L	possibly damaging	Het
Ezh2	A	G	6: 47,528,671 (GRCm39)	L296P	possibly damaging	Het
Fgfrl1	G	C	5: 108,853,439 (GRCm39)		probably null	Het
Flg2	A	G	3: 93,110,899 (GRCm39)	R976G	unknown	Het
Fsip2	C	A	2: 82,828,545 (GRCm39)	Q6781K	probably benign	Het
Golga3	C	T	5: 110,352,799 (GRCm39)	H857Y	probably benign	Het
Hmcn2	T	A	2: 31,244,646 (GRCm39)	V701E	probably damaging	Het
Il21	A	T	3: 37,286,602 (GRCm39)	I38N	probably benign	Het
Ip6k2	G	T	9: 108,681,807 (GRCm39)	G246V	probably damaging	Het
Ipo13	T	C	4: 117,758,185 (GRCm39)	Q726R	probably damaging	Het
Itsn1	A	T	16: 91,703,658 (GRCm39)	N1521Y	unknown	Het
Kif2b	A	G	11: 91,467,131 (GRCm39)	V384A	possibly damaging	Het
L3mbtl1	G	T	2: 162,807,988 (GRCm39)	R541L	probably damaging	Het
Lama3	T	A	18: 12,614,120 (GRCm39)	C1296*	probably null	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Mmp27	C	A	9: 7,581,250 (GRCm39)	F478L	probably benign	Het
Moxd1	T	A	10: 24,155,251 (GRCm39)		probably benign	Het
Naaa	T	A	5: 92,420,300 (GRCm39)		probably benign	Het
Nav1	T	A	1: 135,371,487 (GRCm39)	Q1746L	unknown	Het
Nedd9	T	C	13: 41,471,984 (GRCm39)	Y165C	probably damaging	Het
Neurod1	T	C	2: 79,284,720 (GRCm39)	Y221C	probably damaging	Het
Or2q1	A	T	6: 42,794,545 (GRCm39)	I47F	probably damaging	Het
Or5al6	T	C	2: 85,976,625 (GRCm39)	Y151C	probably damaging	Het
Or9m1	T	C	2: 87,733,907 (GRCm39)	T38A	probably damaging	Het
Orm3	A	G	4: 63,274,533 (GRCm39)	N33D	possibly damaging	Het
Ppp1r3a	G	A	6: 14,754,525 (GRCm39)	P241S	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,657 (GRCm39)	T949A	probably benign	Het
Prdx6	A	T	1: 161,078,619 (GRCm39)	I23N	probably damaging	Het
Prkd3	A	T	17: 79,280,003 (GRCm39)	V334E	probably benign	Het
Prr12	A	T	7: 44,684,146 (GRCm39)	D1631E	probably damaging	Het
Ptpn22	A	G	3: 103,819,551 (GRCm39)		probably benign	Het
Pum2	T	G	12: 8,794,430 (GRCm39)	D773E	probably damaging	Het
Sidt2	A	G	9: 45,856,648 (GRCm39)	C451R	probably benign	Het
Slc37a2	A	G	9: 37,148,658 (GRCm39)	S275P	probably benign	Het
Slmap	G	T	14: 26,254,519 (GRCm39)	N54K	probably benign	Het
Susd4	A	G	1: 182,681,597 (GRCm39)	D146G	probably benign	Het
Tekt3	G	A	11: 62,972,169 (GRCm39)	R275H	possibly damaging	Het
Tkfc	A	G	19: 10,573,612 (GRCm39)	L242P	probably damaging	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Triqk	A	T	4: 12,980,490 (GRCm39)	D78V	probably damaging	Het
Trmo	T	C	4: 46,382,322 (GRCm39)	D258G	probably benign	Het
Tsc2	A	G	17: 24,826,489 (GRCm39)	V920A	probably benign	Het
Tspan17	C	T	13: 54,943,991 (GRCm39)	Q257*	probably null	Het
Tube1	T	A	10: 39,011,017 (GRCm39)	F45I	probably damaging	Het
Vmn1r4	A	G	6: 56,933,822 (GRCm39)	T109A	possibly damaging	Het
Vmn2r14	A	T	5: 109,367,902 (GRCm39)	Y363*	probably null	Het
Zfp324	G	T	7: 12,705,455 (GRCm39)	G548V	probably benign	Het
Zpld2	C	A	4: 133,922,858 (GRCm39)	V492F	probably damaging	Het

Other mutations in Or4c122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01804:Or4c122	APN	2	89,079,566 (GRCm39)	missense	probably benign	0.00
IGL02588:Or4c122	APN	2	89,080,042 (GRCm39)	splice site	probably benign
R0384:Or4c122	UTSW	2	89,079,414 (GRCm39)	missense	possibly damaging	0.82
R0600:Or4c122	UTSW	2	89,079,742 (GRCm39)	nonsense	probably null
R0613:Or4c122	UTSW	2	89,079,469 (GRCm39)	missense	probably damaging	1.00
R1564:Or4c122	UTSW	2	89,080,016 (GRCm39)	missense	probably benign	0.00
R2115:Or4c122	UTSW	2	89,079,874 (GRCm39)	missense	probably damaging	1.00
R2313:Or4c122	UTSW	2	89,079,285 (GRCm39)	missense	probably damaging	1.00
R3083:Or4c122	UTSW	2	89,079,345 (GRCm39)	missense	probably damaging	0.96
R3790:Or4c122	UTSW	2	89,079,337 (GRCm39)	missense	probably benign	0.02
R3948:Or4c122	UTSW	2	89,079,336 (GRCm39)	missense	possibly damaging	0.95
R4373:Or4c122	UTSW	2	89,079,589 (GRCm39)	missense	possibly damaging	0.90
R4376:Or4c122	UTSW	2	89,079,589 (GRCm39)	missense	possibly damaging	0.90
R4825:Or4c122	UTSW	2	89,079,034 (GRCm39)	splice site	probably null
R5022:Or4c122	UTSW	2	89,079,761 (GRCm39)	missense	probably benign	0.00
R5141:Or4c122	UTSW	2	89,079,473 (GRCm39)	nonsense	probably null
R5313:Or4c122	UTSW	2	89,079,721 (GRCm39)	missense	probably benign	0.05
R6010:Or4c122	UTSW	2	89,079,087 (GRCm39)	missense	probably benign	0.00
R7354:Or4c122	UTSW	2	89,079,031 (GRCm39)	splice site	probably null
R7548:Or4c122	UTSW	2	89,079,430 (GRCm39)	missense	probably benign	0.09
R8014:Or4c122	UTSW	2	89,079,343 (GRCm39)	missense	probably damaging	0.98
R8098:Or4c122	UTSW	2	89,079,652 (GRCm39)	missense	possibly damaging	0.95
R8280:Or4c122	UTSW	2	89,079,234 (GRCm39)	missense	probably damaging	0.98
R8554:Or4c122	UTSW	2	89,079,595 (GRCm39)	missense	possibly damaging	0.48
R8678:Or4c122	UTSW	2	89,079,351 (GRCm39)	missense	probably damaging	1.00
R8725:Or4c122	UTSW	2	89,079,658 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATGATGCTGATAGACCCACTG -3'
(R):5'- CTGTCACCCCTAAGATGATGG -3'

Sequencing Primer
(F):5'- TGCTGATAGACCCACTGTTAGAAAAC -3'
(R):5'- TGTCACCCCTAAGATGATGGTAGAC -3'

Posted On

2021-11-19