Mutagenetix > Incidental Mutation

Incidental Mutation 'R6723:Or4d11'

529729

Institutional Source

Beutler Lab

Gene Symbol

Or4d11

Ensembl Gene

ENSMUSG00000067529

Gene Name

olfactory receptor family 4 subfamily D member 11

Synonyms

MOR239-3, GA_x6K02T2RE5P-2393361-2392429, Olfr1423

MMRRC Submission

044841-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R6723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12013172-12014104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12013639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 156 (S156P)

Ref Sequence

ENSEMBL: ENSMUSP00000150649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087831] [ENSMUST00000214472]

AlphaFold

Q8VFV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000087831
AA Change: S156P

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

SMART Domains

Protein: ENSMUSP00000085134
Gene: ENSMUSG00000067529
AA Change: S156P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	2.7e-48	PFAM
Pfam:7tm_1	41	287	2.5e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207831

Predicted Effect

probably damaging
Transcript: ENSMUST00000214472
AA Change: S156P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	A	G	12: 112,745,228 (GRCm39)	S740P	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Bcl11a	C	A	11: 24,113,646 (GRCm39)	P330T	probably damaging	Het
Cyp2d12	A	T	15: 82,441,085 (GRCm39)	I124F	probably benign	Het
Dhdds	T	C	4: 133,721,576 (GRCm39)	T74A	probably damaging	Het
Dio3	G	A	12: 110,245,991 (GRCm39)	C109Y	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Efcab3	A	T	11: 105,007,906 (GRCm39)	T329S	possibly damaging	Het
Esp1	A	T	17: 41,039,747 (GRCm39)	I11L	probably benign	Het
Fam13b	A	T	18: 34,631,079 (GRCm39)	H33Q	possibly damaging	Het
Fam13c	G	A	10: 70,390,355 (GRCm39)	D539N	probably damaging	Het
Fgd5	A	G	6: 91,965,011 (GRCm39)	T257A	probably benign	Het
Gm5134	A	G	10: 75,844,453 (GRCm39)	D603G	probably benign	Het
Gtpbp2	T	C	17: 46,479,202 (GRCm39)	V588A	probably benign	Het
Ift140	A	G	17: 25,252,090 (GRCm39)	I312M	probably benign	Het
Inpp5j	T	C	11: 3,450,640 (GRCm39)	N571S	probably damaging	Het
Iqgap1	T	G	7: 80,373,570 (GRCm39)	D1473A	probably benign	Het
Ivl	T	G	3: 92,478,694 (GRCm39)	K457T	unknown	Het
Kdm3b	T	C	18: 34,926,058 (GRCm39)	I66T	probably damaging	Het
Kif21a	A	T	15: 90,824,649 (GRCm39)	M1430K	probably damaging	Het
Klhl25	T	A	7: 75,515,739 (GRCm39)	L215Q	possibly damaging	Het
Lim2	T	A	7: 43,085,099 (GRCm39)	M163K	probably benign	Het
Lrig1	T	C	6: 94,603,386 (GRCm39)	D254G	probably damaging	Het
Mff	A	G	1: 82,729,387 (GRCm39)	I122V	possibly damaging	Het
Mrpl15	A	C	1: 4,852,789 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,750,258 (GRCm39)	Y1199C	possibly damaging	Het
Nlrp3	G	A	11: 59,456,018 (GRCm39)	C938Y	probably damaging	Het
Notch1	T	C	2: 26,368,118 (GRCm39)	N623D	probably damaging	Het
Obscn	T	G	11: 58,945,824 (GRCm39)	E4129A	probably damaging	Het
Or10a49	A	T	7: 108,467,795 (GRCm39)	C189S	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or5k1	T	C	16: 58,617,795 (GRCm39)	K138R	probably benign	Het
Or6c65	A	T	10: 129,604,284 (GRCm39)	L306F	probably benign	Het
Parm1	C	T	5: 91,770,856 (GRCm39)	P291S	probably damaging	Het
Pcsk1	T	A	13: 75,241,188 (GRCm39)		probably null	Het
Pgap6	C	A	17: 26,339,610 (GRCm39)	T616N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Piezo1	T	G	8: 123,234,366 (GRCm39)	Q93H	probably benign	Het
Pkd2l2	A	T	18: 34,571,210 (GRCm39)	Y575F	probably damaging	Het
Plekhn1	A	C	4: 156,309,026 (GRCm39)	F258C	probably damaging	Het
Pole	C	T	5: 110,471,482 (GRCm39)	H1409Y	probably benign	Het
Rae1	T	C	2: 172,854,041 (GRCm39)	I273T	probably damaging	Het
Rag1	A	G	2: 101,473,990 (GRCm39)	V384A	probably damaging	Het
Rnaseh1	T	C	12: 28,699,761 (GRCm39)	L25P	probably damaging	Het
Serpinb12	A	G	1: 106,876,888 (GRCm39)	H68R	probably benign	Het
Sh3tc2	A	T	18: 62,111,025 (GRCm39)	I294F	probably damaging	Het
Sirpb1b	A	C	3: 15,613,858 (GRCm39)	L75V	possibly damaging	Het
Slc12a6	A	T	2: 112,168,287 (GRCm39)	T277S	probably damaging	Het
Slc7a12	A	T	3: 14,564,257 (GRCm39)	E43D	probably benign	Het
Spata31d1c	T	A	13: 65,183,758 (GRCm39)	D433E	probably benign	Het
Spata31h1	T	C	10: 82,125,657 (GRCm39)	Y2451C	possibly damaging	Het
Tbl2	A	T	5: 135,188,130 (GRCm39)	Y308F	probably damaging	Het
Tfec	T	C	6: 16,835,301 (GRCm39)	Y159C	probably damaging	Het
Top1mt	G	T	15: 75,539,282 (GRCm39)	T371K	probably benign	Het
Trim24	T	C	6: 37,928,403 (GRCm39)	V541A	probably benign	Het
Ttc16	T	C	2: 32,658,049 (GRCm39)	Y456C	possibly damaging	Het
Ttn	G	A	2: 76,600,441 (GRCm39)	R17204*	probably null	Het
Ugt1a6b	T	C	1: 88,035,439 (GRCm39)	V259A	probably benign	Het
Unc5a	T	C	13: 55,143,702 (GRCm39)	W129R	probably benign	Het
Vmn1r63	T	A	7: 5,805,948 (GRCm39)	H228L	probably damaging	Het
Whamm	G	T	7: 81,245,868 (GRCm39)	V775F	probably damaging	Het
Zfc3h1	T	A	10: 115,256,638 (GRCm39)	I1536N	probably benign	Het
Zfp1	T	C	8: 112,396,971 (GRCm39)	S317P	probably damaging	Het
Zfp58	T	C	13: 67,642,192 (GRCm39)	T52A	probably damaging	Het

Other mutations in Or4d11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Or4d11	APN	19	12,013,305 (GRCm39)	missense	probably benign	0.36
IGL01843:Or4d11	APN	19	12,014,041 (GRCm39)	missense	probably benign
IGL01915:Or4d11	APN	19	12,013,461 (GRCm39)	missense	probably damaging	1.00
IGL02283:Or4d11	APN	19	12,013,219 (GRCm39)	missense	possibly damaging	0.87
IGL02807:Or4d11	APN	19	12,013,648 (GRCm39)	missense	probably benign	0.12
IGL02976:Or4d11	APN	19	12,013,337 (GRCm39)	nonsense	probably null
IGL03142:Or4d11	APN	19	12,013,752 (GRCm39)	missense	probably damaging	1.00
R0326:Or4d11	UTSW	19	12,013,525 (GRCm39)	missense	probably benign	0.00
R0369:Or4d11	UTSW	19	12,013,765 (GRCm39)	missense	probably benign	0.01
R0614:Or4d11	UTSW	19	12,013,929 (GRCm39)	missense	possibly damaging	0.93
R1940:Or4d11	UTSW	19	12,013,275 (GRCm39)	missense	probably benign	0.06
R1978:Or4d11	UTSW	19	12,013,705 (GRCm39)	missense	probably benign	0.06
R2013:Or4d11	UTSW	19	12,013,518 (GRCm39)	missense	probably damaging	1.00
R2179:Or4d11	UTSW	19	12,013,452 (GRCm39)	missense	probably damaging	1.00
R3972:Or4d11	UTSW	19	12,013,383 (GRCm39)	missense	probably damaging	0.98
R5051:Or4d11	UTSW	19	12,013,288 (GRCm39)	missense	possibly damaging	0.88
R5484:Or4d11	UTSW	19	12,013,192 (GRCm39)	missense	probably benign	0.01
R5518:Or4d11	UTSW	19	12,013,429 (GRCm39)	missense	probably damaging	0.97
R5729:Or4d11	UTSW	19	12,013,272 (GRCm39)	missense	probably damaging	0.99
R6151:Or4d11	UTSW	19	12,014,100 (GRCm39)	missense	probably benign	0.00
R6708:Or4d11	UTSW	19	12,014,103 (GRCm39)	start codon destroyed	probably null	1.00
R7103:Or4d11	UTSW	19	12,013,752 (GRCm39)	missense	probably damaging	0.99
R7385:Or4d11	UTSW	19	12,013,363 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- CTGCCTGAGACCTCAACATC -3'
(R):5'- CGCAAAATGCATGACACAGATG -3'

Sequencing Primer
(F):5'- TCATCAAGATGACCATGTAGGAC -3'
(R):5'- ATGCATGACACAGATGTTTTTCTTCC -3'

Posted On

2018-08-01