Mutagenetix > Incidental Mutation

Incidental Mutation 'R2512:Or2r11'

253424

Institutional Source

Beutler Lab

Gene Symbol

Or2r11

Ensembl Gene

ENSMUSG00000068574

Gene Name

olfactory receptor family 2 subfamily R member 11

Synonyms

Olfr458, GA_x6K02T2P3E9-5100053-5100994, MOR257-4

MMRRC Submission

040418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R2512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42437010-42437951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42437207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 249 (S249P)

Ref Sequence

ENSEMBL: ENSMUSP00000149459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090156] [ENSMUST00000216650]

AlphaFold

Q8VF80

Predicted Effect

probably damaging
Transcript: ENSMUST00000090156
AA Change: S249P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087617
Gene: ENSMUSG00000068574
AA Change: S249P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	8.6e-52	PFAM
Pfam:7tm_1	41	310	3.7e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216650
AA Change: S249P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,219,945 (GRCm39)	T831A	possibly damaging	Het
Actg2	T	A	6: 83,503,829 (GRCm39)	I72F	probably damaging	Het
Add1	A	G	5: 34,774,030 (GRCm39)	T80A	probably benign	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Aplp2	C	T	9: 31,078,973 (GRCm39)	R325H	probably damaging	Het
Aptx	G	A	4: 40,694,917 (GRCm39)	P140S	probably benign	Het
Carm1	A	G	9: 21,486,708 (GRCm39)		probably null	Het
Carmil2	A	T	8: 106,424,025 (GRCm39)	I1293F	probably benign	Het
Cdh8	T	C	8: 100,127,495 (GRCm39)	T39A	probably benign	Het
Cimip3	T	C	17: 47,724,651 (GRCm39)	T60A	probably benign	Het
Col15a1	T	A	4: 47,245,868 (GRCm39)	N206K	possibly damaging	Het
Copg2	C	T	6: 30,873,591 (GRCm39)		probably null	Het
Ctr9	T	G	7: 110,646,078 (GRCm39)	I690S	probably damaging	Het
Dcaf8	T	G	1: 172,016,602 (GRCm39)	I463S	possibly damaging	Het
Dcp1b	G	T	6: 119,183,473 (GRCm39)	A187S	possibly damaging	Het
Ddo	T	A	10: 40,508,935 (GRCm39)	D58E	possibly damaging	Het
Dkkl1	G	T	7: 44,857,157 (GRCm39)	R137S	probably damaging	Het
Dxo	A	G	17: 35,056,718 (GRCm39)	N115S	probably benign	Het
Ep400	A	T	5: 110,856,781 (GRCm39)		probably benign	Het
F11	A	G	8: 45,714,098 (GRCm39)	V7A	probably benign	Het
Fermt1	G	T	2: 132,781,438 (GRCm39)		probably null	Het
Fign	A	T	2: 63,810,143 (GRCm39)	F376I	probably benign	Het
Flg2	G	T	3: 93,109,082 (GRCm39)	G370V	probably damaging	Het
Fndc3a	A	T	14: 72,793,715 (GRCm39)	D953E	probably benign	Het
Fsip2	A	T	2: 82,808,511 (GRCm39)	H1610L	probably benign	Het
Gfra3	T	C	18: 34,837,564 (GRCm39)	N145D	probably benign	Het
Inpp4b	G	T	8: 82,737,179 (GRCm39)	W525C	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lgi2	A	G	5: 52,695,307 (GRCm39)	*543R	probably null	Het
Lyn	A	G	4: 3,745,542 (GRCm39)	T114A	probably benign	Het
Lynx1	A	G	15: 74,623,169 (GRCm39)	Y88H	probably damaging	Het
Map4	C	A	9: 109,863,770 (GRCm39)	P332T	possibly damaging	Het
Mapk8ip3	A	T	17: 25,133,677 (GRCm39)	C250*	probably null	Het
Metap1d	A	G	2: 71,352,954 (GRCm39)	H261R	probably damaging	Het
Mfrp	T	C	9: 44,013,835 (GRCm39)	V115A	probably benign	Het
Mtbp	A	G	15: 55,440,932 (GRCm39)	Y373C	probably damaging	Het
Mtor	C	A	4: 148,614,948 (GRCm39)	R1628S	possibly damaging	Het
Muc5b	A	G	7: 141,412,813 (GRCm39)	N1920D	unknown	Het
Myo1d	T	A	11: 80,670,543 (GRCm39)	M26L	probably benign	Het
Neb	A	C	2: 52,100,843 (GRCm39)	D643E	probably damaging	Het
Nme1	A	G	11: 93,851,513 (GRCm39)	F108L	possibly damaging	Het
Or8c15	G	T	9: 38,120,670 (GRCm39)	C54F	probably damaging	Het
Pan2	T	A	10: 128,140,326 (GRCm39)	D82E	probably damaging	Het
Pclo	A	G	5: 14,762,612 (GRCm39)	D3695G	unknown	Het
Pcnx4	A	T	12: 72,603,573 (GRCm39)		probably null	Het
Plg	A	G	17: 12,622,116 (GRCm39)	T479A	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Pramel32	T	G	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Ptgis	T	C	2: 167,049,196 (GRCm39)	D372G	probably damaging	Het
Ranbp3l	A	G	15: 8,997,949 (GRCm39)	T14A	probably benign	Het
Rcc1l	A	T	5: 134,195,508 (GRCm39)	V230D	probably damaging	Het
Reln	T	C	5: 22,184,688 (GRCm39)	D1609G	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,802,967 (GRCm39)	L696F	possibly damaging	Het
Sacs	T	A	14: 61,440,529 (GRCm39)	D858E	probably benign	Het
Sec16a	C	T	2: 26,329,037 (GRCm39)	V993I	probably benign	Het
Skint5	T	A	4: 113,487,616 (GRCm39)	I901F	unknown	Het
Slc17a3	A	T	13: 24,030,230 (GRCm39)	I114F	probably benign	Het
Slc17a7	T	A	7: 44,818,288 (GRCm39)	L71Q	probably damaging	Het
Slc43a2	T	C	11: 75,461,403 (GRCm39)	S452P	probably damaging	Het
Smarca4	A	G	9: 21,546,994 (GRCm39)	N173S	possibly damaging	Het
Tbc1d21	T	C	9: 58,270,195 (GRCm39)	Y161C	probably damaging	Het
Tpsab1	C	A	17: 25,564,081 (GRCm39)	C94F	probably damaging	Het
Ubr5	G	A	15: 38,002,563 (GRCm39)	P1496L	probably damaging	Het
Unc80	G	T	1: 66,710,767 (GRCm39)	A2679S	possibly damaging	Het
Vdac1	T	A	11: 52,274,904 (GRCm39)	V184E	probably damaging	Het
Vmn2r24	T	A	6: 123,763,985 (GRCm39)	S287R	probably benign	Het
Vmn2r91	T	C	17: 18,356,048 (GRCm39)	F572L	probably benign	Het
Vps13b	G	A	15: 35,884,701 (GRCm39)	E3125K	probably benign	Het
Ythdf3	A	G	3: 16,259,059 (GRCm39)	N406S	possibly damaging	Het
Zfp708	T	C	13: 67,219,251 (GRCm39)	K158E	probably damaging	Het

Other mutations in Or2r11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Or2r11	APN	6	42,437,884 (GRCm39)	missense	probably benign
IGL00983:Or2r11	APN	6	42,437,029 (GRCm39)	missense	probably benign
IGL01655:Or2r11	APN	6	42,437,474 (GRCm39)	missense	probably benign	0.41
IGL02017:Or2r11	APN	6	42,437,758 (GRCm39)	missense	probably benign	0.40
IGL02420:Or2r11	APN	6	42,437,110 (GRCm39)	missense	probably benign	0.03
IGL03145:Or2r11	APN	6	42,437,434 (GRCm39)	missense	probably benign	0.05
IGL03171:Or2r11	APN	6	42,437,464 (GRCm39)	missense	possibly damaging	0.89
IGL03333:Or2r11	APN	6	42,437,773 (GRCm39)	missense	probably damaging	1.00
R1768:Or2r11	UTSW	6	42,437,611 (GRCm39)	missense	probably damaging	1.00
R1908:Or2r11	UTSW	6	42,437,360 (GRCm39)	missense	probably benign	0.15
R2198:Or2r11	UTSW	6	42,437,950 (GRCm39)	start codon destroyed	probably null	1.00
R2336:Or2r11	UTSW	6	42,437,663 (GRCm39)	missense	probably damaging	1.00
R3433:Or2r11	UTSW	6	42,437,888 (GRCm39)	missense	probably benign
R5338:Or2r11	UTSW	6	42,437,908 (GRCm39)	missense	probably benign	0.11
R5341:Or2r11	UTSW	6	42,437,098 (GRCm39)	missense	probably damaging	1.00
R5498:Or2r11	UTSW	6	42,437,228 (GRCm39)	missense	probably benign	0.11
R6558:Or2r11	UTSW	6	42,437,711 (GRCm39)	missense	probably benign	0.02
R6594:Or2r11	UTSW	6	42,437,309 (GRCm39)	missense	probably benign	0.01
R7107:Or2r11	UTSW	6	42,437,488 (GRCm39)	missense	possibly damaging	0.78
R7853:Or2r11	UTSW	6	42,437,573 (GRCm39)	missense	probably damaging	0.99
R8050:Or2r11	UTSW	6	42,437,764 (GRCm39)	missense	probably damaging	1.00
R8684:Or2r11	UTSW	6	42,437,827 (GRCm39)	missense	probably damaging	1.00
R9777:Or2r11	UTSW	6	42,437,029 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGATCTTCATCAGAACTCGACTG -3'
(R):5'- ATGTGGCATGTGAGACACTGG -3'

Sequencing Primer
(F):5'- TGAAAGCAGCCTTCACATCCTTG -3'
(R):5'- ATGTGAGACACTGGCACTGGTC -3'

Posted On

2014-12-04