Mutagenetix > Incidental Mutation

Incidental Mutation 'R7385:Or4d6'

573071

Institutional Source

Beutler Lab

Gene Symbol

Or4d6

Ensembl Gene

ENSMUSG00000067524

Gene Name

olfactory receptor family 4 subfamily D member 6

Synonyms

GA_x6K02T2RE5P-2468394-2467450, Olfr1428, MOR239-5

MMRRC Submission

045467-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R7385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12085964-12093192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12086061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 57 (N57S)

Ref Sequence

ENSEMBL: ENSMUSP00000147015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087824] [ENSMUST00000208391] [ENSMUST00000214103]

AlphaFold

Q0VDY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000087824
AA Change: N283S

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

SMART Domains

Protein: ENSMUSP00000085126
Gene: ENSMUSG00000067524
AA Change: N283S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	4.1e-43	PFAM
Pfam:7TM_GPCR_Srsx	35	305	6.2e-6	PFAM
Pfam:7tm_1	41	303	2.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208391
AA Change: N57S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214103
AA Change: N283S

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

Meta Mutation Damage Score

0.4951

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	C	1: 179,580,946 (GRCm39)	E1752G	possibly damaging	Het
Aqp3	T	C	4: 41,095,178 (GRCm39)	T68A	probably damaging	Het
Arhgap40	A	G	2: 158,385,147 (GRCm39)	K463R	probably damaging	Het
Asb10	A	T	5: 24,738,736 (GRCm39)	C440*	probably null	Het
Bach1	A	G	16: 87,526,385 (GRCm39)	T616A	probably damaging	Het
Braf	T	A	6: 39,642,042 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,020,371 (GRCm39)	N803Y	probably damaging	Het
Cald1	A	G	6: 34,663,000 (GRCm39)	E21G	probably damaging	Het
Caskin1	G	T	17: 24,722,898 (GRCm39)	G589C	probably damaging	Het
Cdc37l1	T	C	19: 28,968,071 (GRCm39)		probably null	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col5a1	T	C	2: 27,914,762 (GRCm39)	L1615P	unknown	Het
Cpt1a	C	A	19: 3,430,155 (GRCm39)	P672T	probably damaging	Het
Defb22	A	G	2: 152,328,117 (GRCm39)	Y23H	probably damaging	Het
Depdc1b	G	C	13: 108,500,166 (GRCm39)	K226N	probably damaging	Het
Derl2	A	G	11: 70,909,764 (GRCm39)		probably benign	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dsg3	C	A	18: 20,673,254 (GRCm39)	T975K	possibly damaging	Het
Eif4enif1	T	A	11: 3,170,269 (GRCm39)	D107E	probably damaging	Het
Fut11	A	G	14: 20,746,325 (GRCm39)	D389G	probably damaging	Het
Gopc	C	T	10: 52,225,328 (GRCm39)	G299E	probably damaging	Het
Gprin1	T	C	13: 54,886,423 (GRCm39)	D617G	probably benign	Het
Grin2d	A	G	7: 45,506,960 (GRCm39)	V505A	probably damaging	Het
Heatr6	T	C	11: 83,650,161 (GRCm39)	Y206H	probably damaging	Het
Hhex	C	A	19: 37,425,713 (GRCm39)	N147K	probably damaging	Het
Igkv4-80	G	A	6: 68,993,699 (GRCm39)	S64F	probably damaging	Het
Jakmip3	A	G	7: 138,625,068 (GRCm39)	K360R	possibly damaging	Het
Kat5	AG	A	19: 5,658,297 (GRCm39)		probably null	Het
Kat5	T	A	19: 5,658,302 (GRCm39)	N191I	probably benign	Het
Kifc5b	A	G	17: 27,144,597 (GRCm39)	D572G	probably damaging	Het
Lrp5	C	A	19: 3,662,197 (GRCm39)		probably null	Het
Lrtm1	A	G	14: 28,749,673 (GRCm39)	M345V	probably benign	Het
Mbd5	T	C	2: 49,162,461 (GRCm39)	V981A	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mrgprd	A	G	7: 144,875,261 (GRCm39)	N44S	probably damaging	Het
Mrps10	C	A	17: 47,689,146 (GRCm39)	P181Q	probably damaging	Het
Myot	T	A	18: 44,470,075 (GRCm39)	C17*	probably null	Het
Myt1	A	G	2: 181,409,498 (GRCm39)		probably null	Het
Ncoa6	C	A	2: 155,249,721 (GRCm39)	L1194F	probably damaging	Het
Or4d11	T	C	19: 12,013,363 (GRCm39)	T248A	probably benign	Het
Or4e5	T	C	14: 52,727,638 (GRCm39)	Y261C	probably damaging	Het
Or7a39	C	A	10: 78,715,288 (GRCm39)	T94K	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Osbpl6	G	A	2: 76,379,794 (GRCm39)	G128E	probably damaging	Het
P3h3	A	T	6: 124,832,233 (GRCm39)	Y218N	probably damaging	Het
Paxip1	A	G	5: 27,986,418 (GRCm39)		probably null	Het
Pdia5	T	C	16: 35,250,284 (GRCm39)	Y225C	probably damaging	Het
Pik3c2g	T	G	6: 139,801,079 (GRCm39)	M526R		Het
Prox1	A	G	1: 189,894,323 (GRCm39)	F41L	probably benign	Het
Psd3	A	T	8: 68,453,408 (GRCm39)	F284I	probably damaging	Het
Rev3l	T	A	10: 39,699,678 (GRCm39)	C1392S	probably benign	Het
Rfxank	A	T	8: 70,587,285 (GRCm39)	V212E	probably damaging	Het
Ros1	T	C	10: 52,031,222 (GRCm39)	D482G	probably benign	Het
Sat2	A	T	11: 69,513,763 (GRCm39)	I94F	probably damaging	Het
Scarf2	T	C	16: 17,621,702 (GRCm39)	L384P	probably damaging	Het
Sec14l2	C	A	11: 4,066,750 (GRCm39)	E21*	probably null	Het
Slitrk5	T	A	14: 111,918,131 (GRCm39)	V585E	probably benign	Het
Spata31h1	T	A	10: 82,123,571 (GRCm39)	E3146D	probably benign	Het
Spata31h1	T	C	10: 82,123,729 (GRCm39)	S3094G	probably benign	Het
Tas2r130	T	A	6: 131,607,226 (GRCm39)	M190L	probably benign	Het
Ticrr	G	A	7: 79,341,597 (GRCm39)	S1061N	possibly damaging	Het
Tlr9	C	A	9: 106,102,463 (GRCm39)	H585N	probably damaging	Het
Tmem219	A	T	7: 126,495,947 (GRCm39)	I142N	probably damaging	Het
Tnni2	A	G	7: 141,996,915 (GRCm39)	N8S	probably benign	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc8	A	G	12: 98,908,547 (GRCm39)	E72G	possibly damaging	Het
Upf1	A	G	8: 70,793,268 (GRCm39)	Y297H	probably damaging	Het
Vmn1r4	A	G	6: 56,933,721 (GRCm39)	K75R	probably damaging	Het
Vmn2r78	G	A	7: 86,571,633 (GRCm39)	G481D	probably benign	Het
Vmn2r96	A	G	17: 18,803,302 (GRCm39)	Y404C	probably damaging	Het
Vps50	T	A	6: 3,602,708 (GRCm39)	S942T	probably benign	Het
Xkr7	C	A	2: 152,895,983 (GRCm39)	S279*	probably null	Het
Zan	G	A	5: 137,432,416 (GRCm39)	Q2294*	probably null	Het
Zan	T	C	5: 137,448,753 (GRCm39)	Y1700C	unknown	Het

Other mutations in Or4d6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03062:Or4d6	APN	19	12,086,512 (GRCm39)	missense	probably benign	0.00
BB006:Or4d6	UTSW	19	12,086,118 (GRCm39)	missense	unknown
BB016:Or4d6	UTSW	19	12,086,118 (GRCm39)	missense	unknown
IGL02796:Or4d6	UTSW	19	12,086,248 (GRCm39)	missense	possibly damaging	0.85
PIT4495001:Or4d6	UTSW	19	12,086,076 (GRCm39)	missense	possibly damaging	0.65
R0541:Or4d6	UTSW	19	12,086,884 (GRCm39)	missense	possibly damaging	0.85
R1169:Or4d6	UTSW	19	12,086,853 (GRCm39)	missense	probably benign
R1918:Or4d6	UTSW	19	12,086,871 (GRCm39)	missense	probably benign	0.06
R2915:Or4d6	UTSW	19	12,085,989 (GRCm39)	missense	probably benign	0.09
R3835:Or4d6	UTSW	19	12,086,764 (GRCm39)	missense	possibly damaging	0.92
R4470:Or4d6	UTSW	19	12,086,547 (GRCm39)	splice site	probably null
R4682:Or4d6	UTSW	19	12,086,049 (GRCm39)	missense	probably damaging	1.00
R4751:Or4d6	UTSW	19	12,086,541 (GRCm39)	missense	probably damaging	1.00
R5467:Or4d6	UTSW	19	12,086,023 (GRCm39)	missense	probably benign	0.20
R5513:Or4d6	UTSW	19	12,086,745 (GRCm39)	missense	probably damaging	1.00
R6915:Or4d6	UTSW	19	12,086,490 (GRCm39)	missense	probably benign	0.25
R7569:Or4d6	UTSW	19	12,086,385 (GRCm39)	missense	possibly damaging	0.77
R7929:Or4d6	UTSW	19	12,086,118 (GRCm39)	missense	unknown
R8442:Or4d6	UTSW	19	12,086,091 (GRCm39)	missense	probably damaging	1.00
R9215:Or4d6	UTSW	19	12,086,016 (GRCm39)	missense	probably damaging	1.00
R9467:Or4d6	UTSW	19	12,086,313 (GRCm39)	missense	possibly damaging	0.56
R9753:Or4d6	UTSW	19	12,086,056 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTATCATAGAAGGCATATGGTGAC -3'
(R):5'- CTCAGATTCCATTCTGGGGAGG -3'

Sequencing Primer
(F):5'- GCTCACCCTAGCTTATTG -3'
(R):5'- GGACGGAACAAGGCTCTCTC -3'

Posted On

2019-09-13