Mutagenetix > Incidental Mutation

Incidental Mutation 'R4762:Or8k35'

356926

Institutional Source

Beutler Lab

Gene Symbol

Or8k35

Ensembl Gene

ENSMUSG00000111689

Gene Name

olfactory receptor family 8 subfamily K member 35

Synonyms

MOR192-4_p, GA_x6K02T2Q125-48079993-48079157, Olfr1082

MMRRC Submission

042403-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R4762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86424229-86429153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86424381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 264 (S264P)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000215600]

AlphaFold

A0A1L1SUC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111578
AA Change: S264P

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107204
Gene: ENSMUSG00000079239
AA Change: S264P

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	5.6e-31	PFAM
Pfam:7tm_4	139	283	4.5e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215600
AA Change: S264P

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	T	C	1: 158,797,126 (GRCm39)		noncoding transcript	Het
2310030G06Rik	T	C	9: 50,651,967 (GRCm39)	E87G	probably damaging	Het
Aknad1	A	T	3: 108,682,547 (GRCm39)	H541L	possibly damaging	Het
Asb15	A	G	6: 24,567,236 (GRCm39)	E519G	possibly damaging	Het
Atad2	T	C	15: 57,971,758 (GRCm39)	D373G	probably benign	Het
Bbs12	G	A	3: 37,374,529 (GRCm39)	V326M	probably damaging	Het
Birc6	T	C	17: 74,936,484 (GRCm39)	I2617T	probably damaging	Het
Brca2	A	G	5: 150,454,581 (GRCm39)	T115A	probably benign	Het
Casz1	T	C	4: 149,023,438 (GRCm39)	L495P	probably damaging	Het
Ccdc30	T	A	4: 119,190,785 (GRCm39)	I481F	probably damaging	Het
Cept1	A	T	3: 106,446,677 (GRCm39)	Y56*	probably null	Het
Cfap54	A	C	10: 92,897,315 (GRCm39)		probably null	Het
Cyp2j8	G	T	4: 96,358,886 (GRCm39)	D344E	probably damaging	Het
Dido1	A	T	2: 180,331,368 (GRCm39)	W27R	probably damaging	Het
Disp3	A	G	4: 148,356,575 (GRCm39)	I95T	probably damaging	Het
Engase	G	T	11: 118,377,920 (GRCm39)	V237F	possibly damaging	Het
Ephb6	G	A	6: 41,595,094 (GRCm39)	E703K	probably damaging	Het
Fnip1	T	A	11: 54,356,997 (GRCm39)	F35L	probably damaging	Het
Fnip1	A	T	11: 54,390,352 (GRCm39)	T440S	probably benign	Het
Fras1	T	A	5: 96,879,477 (GRCm39)	H2431Q	probably benign	Het
Fzd4	A	T	7: 89,056,924 (GRCm39)	T324S	probably damaging	Het
Gm10192	C	G	4: 97,071,345 (GRCm39)	S20T	probably null	Het
Gpr84	A	T	15: 103,217,027 (GRCm39)	V350E	probably damaging	Het
Gsto2	T	C	19: 47,863,312 (GRCm39)	Y63H	probably damaging	Het
Gtpbp6	T	C	5: 110,252,186 (GRCm39)	T449A	probably damaging	Het
Herc2	G	A	7: 55,820,388 (GRCm39)	V2876I	probably benign	Het
Hnrnpa3	A	G	2: 75,492,351 (GRCm39)	I152V	possibly damaging	Het
Hpse2	T	C	19: 42,777,510 (GRCm39)	D552G	possibly damaging	Het
Itfg1	A	G	8: 86,459,070 (GRCm39)	V460A	possibly damaging	Het
Jhy	G	A	9: 40,822,494 (GRCm39)	A548V	probably benign	Het
Klhl21	T	A	4: 152,094,268 (GRCm39)	L290Q	possibly damaging	Het
Knl1	T	C	2: 118,902,417 (GRCm39)	S1373P	probably benign	Het
Kpna2	A	C	11: 106,881,085 (GRCm39)	M426R	probably benign	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Lpar1	T	G	4: 58,437,346 (GRCm39)	H361P	possibly damaging	Het
Macf1	T	C	4: 123,349,237 (GRCm39)	T2100A	probably benign	Het
Mfsd13b	T	C	7: 120,590,549 (GRCm39)	F97L	probably damaging	Het
Mmp15	A	G	8: 96,098,958 (GRCm39)	K595R	probably benign	Het
Mrps25	C	T	6: 92,152,085 (GRCm39)	G145D	probably damaging	Het
Muc4	T	A	16: 32,574,916 (GRCm39)		probably benign	Het
Napa	A	T	7: 15,849,196 (GRCm39)	K245N	probably benign	Het
Or10p1	C	A	10: 129,444,043 (GRCm39)	M102I	probably damaging	Het
Or14c39	A	G	7: 86,344,329 (GRCm39)	T222A	probably benign	Het
Or2y1c	A	T	11: 49,361,112 (GRCm39)	I45F	probably damaging	Het
Or4g17	G	A	2: 111,210,082 (GRCm39)	V246M	probably damaging	Het
Or4k39	T	A	2: 111,239,225 (GRCm39)		noncoding transcript	Het
Or5au1	T	A	14: 52,272,921 (GRCm39)	I216F	possibly damaging	Het
Or8c20	A	G	9: 38,260,577 (GRCm39)	Y60C	probably damaging	Het
Papss2	A	T	19: 32,616,378 (GRCm39)	T195S	probably benign	Het
Parp4	T	A	14: 56,848,267 (GRCm39)	H694Q	probably damaging	Het
Patj	C	T	4: 98,293,807 (GRCm39)	R20*	probably null	Het
Pcdhgb8	T	A	18: 37,895,419 (GRCm39)	V163E	probably damaging	Het
Pkd2l1	T	A	19: 44,144,060 (GRCm39)	T338S	probably benign	Het
Ppargc1b	A	T	18: 61,444,328 (GRCm39)	S278R	possibly damaging	Het
Ppl	T	C	16: 4,906,846 (GRCm39)	T1150A	probably benign	Het
Ralgds	A	G	2: 28,442,164 (GRCm39)	D858G	probably damaging	Het
Rassf2	G	A	2: 131,844,783 (GRCm39)		probably benign	Het
Ring1	T	C	17: 34,240,971 (GRCm39)		probably benign	Het
Rusc1	A	C	3: 88,998,949 (GRCm39)	S278A	probably benign	Het
Samd9l	T	C	6: 3,375,623 (GRCm39)	N546S	probably benign	Het
Sct	A	C	7: 140,858,954 (GRCm39)		probably benign	Het
Slc22a12	T	G	19: 6,588,474 (GRCm39)	H348P	probably benign	Het
Slc25a15	A	G	8: 22,873,248 (GRCm39)	S143P	probably damaging	Het
Slc26a11	C	A	11: 119,247,657 (GRCm39)		probably benign	Het
Slc6a20b	A	G	9: 123,427,625 (GRCm39)	M428T	probably damaging	Het
Smim17	G	A	7: 6,432,321 (GRCm39)	V88M	probably damaging	Het
Smoc1	G	T	12: 81,214,425 (GRCm39)	W269L	probably damaging	Het
Sox5	C	T	6: 143,807,109 (GRCm39)		probably null	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Sptbn5	T	A	2: 119,907,703 (GRCm39)		noncoding transcript	Het
Sun5	G	A	2: 153,707,283 (GRCm39)	R132*	probably null	Het
Tedc2	A	G	17: 24,435,354 (GRCm39)	V345A	probably benign	Het
Tlr6	T	A	5: 65,111,739 (GRCm39)	R389S	probably benign	Het
Ttc17	G	T	2: 94,202,113 (GRCm39)	H396Q	probably damaging	Het
Ttn	A	G	2: 76,773,383 (GRCm39)	S2340P	probably damaging	Het
Vmn1r219	C	T	13: 23,346,999 (GRCm39)	Q63*	probably null	Het
Vmn1r224	A	G	17: 20,639,902 (GRCm39)	T160A	possibly damaging	Het
Vmn2r11	T	C	5: 109,195,436 (GRCm39)	N630S	probably damaging	Het
Zfp1005	T	A	2: 150,109,549 (GRCm39)	C80S	possibly damaging	Het
Zfp747	A	G	7: 126,973,498 (GRCm39)	V224A	possibly damaging	Het
Zfp804b	T	C	5: 6,822,250 (GRCm39)	N271S	probably benign	Het

Other mutations in Or8k35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0483:Or8k35	UTSW	2	86,424,752 (GRCm39)	missense	probably benign	0.07
R0675:Or8k35	UTSW	2	86,424,423 (GRCm39)	missense	probably benign	0.00
R0718:Or8k35	UTSW	2	86,424,425 (GRCm39)	missense	probably benign	0.01
R0727:Or8k35	UTSW	2	86,424,724 (GRCm39)	nonsense	probably null
R1517:Or8k35	UTSW	2	86,424,948 (GRCm39)	missense	probably damaging	0.99
R1850:Or8k35	UTSW	2	86,424,448 (GRCm39)	nonsense	probably null
R2430:Or8k35	UTSW	2	86,425,052 (GRCm39)	missense	probably benign	0.00
R2474:Or8k35	UTSW	2	86,424,957 (GRCm39)	missense	probably benign	0.00
R3009:Or8k35	UTSW	2	86,424,714 (GRCm39)	missense	probably benign	0.07
R3122:Or8k35	UTSW	2	86,424,954 (GRCm39)	missense	possibly damaging	0.91
R4006:Or8k35	UTSW	2	86,424,908 (GRCm39)	missense	probably benign	0.14
R4007:Or8k35	UTSW	2	86,424,908 (GRCm39)	missense	probably benign	0.14
R4581:Or8k35	UTSW	2	86,424,572 (GRCm39)	missense	probably benign	0.08
R5617:Or8k35	UTSW	2	86,424,345 (GRCm39)	missense	probably benign	0.07
R6118:Or8k35	UTSW	2	86,424,758 (GRCm39)	missense	probably benign
R6140:Or8k35	UTSW	2	86,424,448 (GRCm39)	nonsense	probably null
R6313:Or8k35	UTSW	2	86,424,411 (GRCm39)	missense	possibly damaging	0.76
R6528:Or8k35	UTSW	2	86,424,809 (GRCm39)	missense	probably damaging	1.00
R6785:Or8k35	UTSW	2	86,424,765 (GRCm39)	missense	probably damaging	0.98
R6792:Or8k35	UTSW	2	86,424,283 (GRCm39)	missense	probably benign	0.09
R6857:Or8k35	UTSW	2	86,424,608 (GRCm39)	missense	probably damaging	1.00
R6998:Or8k35	UTSW	2	86,424,488 (GRCm39)	missense	probably damaging	1.00
R7241:Or8k35	UTSW	2	86,424,498 (GRCm39)	missense	possibly damaging	0.89
R8790:Or8k35	UTSW	2	86,424,278 (GRCm39)	missense	possibly damaging	0.76
R8865:Or8k35	UTSW	2	86,424,744 (GRCm39)	missense	possibly damaging	0.89
R9521:Or8k35	UTSW	2	86,424,771 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AAACCTGGTTTGAAGGATTTGTACG -3'
(R):5'- TCGTTGCTTTGCTCAAATACAC -3'

Sequencing Primer
(F):5'- GACTGTAGATCAGGGGATTC -3'
(R):5'- GTTGCTTTGCTCAAATACACAAAAAG -3'

Posted On

2015-11-11