Mutagenetix > Incidental Mutation

Incidental Mutation 'R5518:Or4d11'

431440

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

043077-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

R5518 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12013172-12014104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12013429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 226 (R226G)

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: R226G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085134
Gene: ENSMUSG00000067529
AA Change: R226G

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: R226G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.7770

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 94.2%
20x: 86.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	T	7: 45,769,873 (GRCm39)	E881K	probably benign	Het
Abcf1	C	T	17: 36,269,233 (GRCm39)	R675K	possibly damaging	Het
Abl1	T	A	2: 31,680,754 (GRCm39)	C349S	probably damaging	Het
Acot11	C	A	4: 106,607,207 (GRCm39)	V459L	probably benign	Het
Ank2	A	T	3: 126,753,348 (GRCm39)	V311D	probably damaging	Het
Ankrd11	C	G	8: 123,617,733 (GRCm39)	E2040Q	possibly damaging	Het
Ankrd26	T	C	6: 118,525,869 (GRCm39)	I359V	probably benign	Het
Armc3	T	G	2: 19,302,739 (GRCm39)	L684V	probably benign	Het
Asb10	G	A	5: 24,744,643 (GRCm39)	P184S	probably damaging	Het
Atp10b	T	C	11: 43,042,463 (GRCm39)	S8P	possibly damaging	Het
Blk	G	T	14: 63,615,956 (GRCm39)	S324R	possibly damaging	Het
C4b	G	C	17: 34,953,416 (GRCm39)	N1022K	probably benign	Het
Card6	G	T	15: 5,134,696 (GRCm39)	T169K	probably damaging	Het
Catsper2	T	C	2: 121,236,844 (GRCm39)	T268A	possibly damaging	Het
Cbx3	C	T	6: 51,458,726 (GRCm39)	P64S	probably benign	Het
Chchd6	A	G	6: 89,544,567 (GRCm39)		probably null	Het
Cntn1	G	A	15: 92,212,534 (GRCm39)	E899K	probably benign	Het
Col6a4	A	T	9: 105,949,387 (GRCm39)	S749R	possibly damaging	Het
Cpne3	T	G	4: 19,553,779 (GRCm39)	N84T	probably benign	Het
Dcxr	A	C	11: 120,617,025 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Emsy	T	C	7: 98,242,818 (GRCm39)	Q1107R	possibly damaging	Het
Erbb2	G	T	11: 98,313,596 (GRCm39)	C221F	probably damaging	Het
Exoc3l	T	C	8: 106,019,795 (GRCm39)	N353D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
G3bp2	T	A	5: 92,216,347 (GRCm39)	H63L	probably benign	Het
Galnt17	A	G	5: 130,929,428 (GRCm39)	Y460H	probably damaging	Het
Gm6003	T	A	7: 32,865,004 (GRCm39)		noncoding transcript	Het
Ighv5-12-4	A	G	12: 113,726,154 (GRCm39)	L23P	probably damaging	Het
Ins1	T	C	19: 52,253,177 (GRCm39)	L39P	probably damaging	Het
Itpr3	T	G	17: 27,306,566 (GRCm39)	V210G	probably damaging	Het
Klrb1	T	A	6: 128,683,488 (GRCm39)	T210S	probably benign	Het
Krtap24-1	A	T	16: 88,408,596 (GRCm39)	F177I	probably damaging	Het
Lrrc37	A	T	11: 103,506,079 (GRCm39)	I1963K	probably benign	Het
Mcat	A	G	15: 83,431,875 (GRCm39)		probably null	Het
Mknk2	A	T	10: 80,504,475 (GRCm39)	C229S	possibly damaging	Het
Mta2	C	A	19: 8,925,456 (GRCm39)	Q362K	probably benign	Het
Ndst4	T	C	3: 125,232,105 (GRCm39)	Y225H	probably benign	Het
Pcdha1	A	G	18: 37,065,415 (GRCm39)	D693G	probably benign	Het
Pik3r5	G	A	11: 68,368,294 (GRCm39)	D100N	possibly damaging	Het
Pld3	T	C	7: 27,231,796 (GRCm39)	D465G	probably damaging	Het
Prkdc	T	C	16: 15,496,172 (GRCm39)	Y788H	probably damaging	Het
Ptprt	T	A	2: 162,120,143 (GRCm39)	D108V	probably damaging	Het
Rasgrp3	T	A	17: 75,823,354 (GRCm39)	M475K	probably benign	Het
Rbak	A	G	5: 143,159,064 (GRCm39)	L663P	probably damaging	Het
Rnf17	A	G	14: 56,719,590 (GRCm39)	N947D	probably damaging	Het
Ryr2	T	C	13: 11,702,795 (GRCm39)	S2898G	probably benign	Het
Serpina1e	A	C	12: 103,917,087 (GRCm39)	L194R	probably damaging	Het
Smg6	T	C	11: 74,944,724 (GRCm39)	S158P	probably damaging	Het
Smtnl2	A	T	11: 72,292,342 (GRCm39)	V269E	possibly damaging	Het
Snx14	G	T	9: 88,265,855 (GRCm39)	P760Q	probably damaging	Het
Sorl1	T	C	9: 41,948,508 (GRCm39)	E759G	possibly damaging	Het
Sspo	C	T	6: 48,473,588 (GRCm39)	T4906M	possibly damaging	Het
Syne2	T	A	12: 75,991,944 (GRCm39)	F1970I	possibly damaging	Het
Tekt3	C	A	11: 62,974,768 (GRCm39)	H362Q	probably benign	Het
Tmem121	T	C	12: 113,152,547 (GRCm39)	V255A	possibly damaging	Het
Tmem201	T	C	4: 149,802,534 (GRCm39)	T614A	probably benign	Het
Tnc	T	C	4: 63,935,916 (GRCm39)	D340G	probably damaging	Het
Ttc28	A	T	5: 111,373,794 (GRCm39)	T1046S	probably benign	Het
Ubxn2a	T	C	12: 4,952,238 (GRCm39)	D8G	probably benign	Het
Vwde	T	C	6: 13,186,937 (GRCm39)	N850S	probably benign	Het
Zfp280d	A	G	9: 72,231,417 (GRCm39)	H451R	probably damaging	Het
Zfp462	T	C	4: 55,009,818 (GRCm39)	C595R	probably damaging	Het
Zfp768	A	G	7: 126,943,583 (GRCm39)	S182P	probably benign	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
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
R6723:Or4d11	UTSW	19	12,013,639 (GRCm39)	missense	probably damaging	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'- TGGCTGACTTCATTTCCTGG -3'
(R):5'- CTCGATTGTGCAGATCTCCC -3'

Sequencing Primer
(F):5'- CCTTAGAGTATAGATCAAGGGGTTC -3'
(R):5'- GATTGTGCAGATCTCCCTCTTG -3'

Posted On

2016-10-05