Mutagenetix > Incidental Mutation

Incidental Mutation 'R7403:Or8s5'

574370

Institutional Source

Beutler Lab

Gene Symbol

Or8s5

Ensembl Gene

ENSMUSG00000051793

Gene Name

olfactory receptor family 8 subfamily S member 5

Synonyms

Olfr284, MOR160-4, GA_x6K02T2NBG7-5395976-5396893

MMRRC Submission

045485-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98237903-98238820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98238000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

Ref Sequence

ENSEMBL: ENSMUSP00000145864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063289] [ENSMUST00000206647]

AlphaFold

A0A0U1RP76

Predicted Effect

probably damaging
Transcript: ENSMUST00000063289
AA Change: Y274C

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

SMART Domains

Protein: ENSMUSP00000065626
Gene: ENSMUSG00000051793
AA Change: Y274C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	5.3e-54	PFAM
Pfam:7TM_GPCR_Srsx	33	259	1.3e-5	PFAM
Pfam:7tm_1	39	286	5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206647
AA Change: Y290C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	G	A	10: 83,450,059 (GRCm39)	A271V	probably benign	Het
Brpf3	C	T	17: 29,040,330 (GRCm39)	T917I	probably benign	Het
Camta1	G	A	4: 151,537,752 (GRCm39)	Q143*	probably null	Het
Cd3e	C	A	9: 44,913,590 (GRCm39)	E48D	probably benign	Het
Clca3b	A	G	3: 144,529,259 (GRCm39)	L805P	probably benign	Het
Crispld1	A	G	1: 17,817,820 (GRCm39)	Y241C	probably damaging	Het
Ddx43	T	G	9: 78,321,133 (GRCm39)	N380K	probably damaging	Het
Dtl	A	T	1: 191,295,285 (GRCm39)	V155E	probably damaging	Het
Eif1ad19	G	T	12: 87,740,314 (GRCm39)	Q82K	probably benign	Het
Elp1	A	T	4: 56,778,994 (GRCm39)	C608S	probably damaging	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Fam78a	T	C	2: 31,959,627 (GRCm39)	N161S	probably damaging	Het
Far2	T	C	6: 148,060,475 (GRCm39)	I276T	possibly damaging	Het
Frem3	T	C	8: 81,342,774 (GRCm39)	L1689P	probably damaging	Het
Gak	T	C	5: 108,761,401 (GRCm39)	K210R	probably benign	Het
Gna14	G	T	19: 16,576,445 (GRCm39)	D151Y		Het
Hdhd2	A	G	18: 77,042,736 (GRCm39)	D55G	probably benign	Het
Hycc2	A	T	1: 58,587,861 (GRCm39)	D117E	possibly damaging	Het
Ifna5	A	G	4: 88,754,110 (GRCm39)	N117D	probably benign	Het
Il16	T	A	7: 83,319,343 (GRCm39)	T383S	probably damaging	Het
Il36rn	T	C	2: 24,171,214 (GRCm39)	F101L	probably damaging	Het
Ino80d	A	G	1: 63,101,378 (GRCm39)	V416A	possibly damaging	Het
Ints6	T	C	14: 62,945,104 (GRCm39)	R409G	possibly damaging	Het
Itgb5	G	T	16: 33,723,163 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,953,399 (GRCm39)	L905*	probably null	Het
Kcnq3	T	A	15: 65,874,066 (GRCm39)	R561W	probably damaging	Het
Lipo4	C	T	19: 33,480,679 (GRCm39)	E230K	possibly damaging	Het
Lrrc7	A	T	3: 157,854,311 (GRCm39)	L1299*	probably null	Het
Mcm3ap	T	C	10: 76,318,657 (GRCm39)		probably null	Het
Mok	A	T	12: 110,781,563 (GRCm39)		probably null	Het
Mylk2	T	A	2: 152,759,261 (GRCm39)	V344E	probably damaging	Het
Oacyl	T	C	18: 65,870,966 (GRCm39)	V389A	probably benign	Het
Oplah	T	C	15: 76,189,209 (GRCm39)	D278G	probably benign	Het
Or1j8	T	C	2: 36,192,342 (GRCm39)	F264L	probably benign	Het
Padi3	T	C	4: 140,527,430 (GRCm39)	N124D	probably benign	Het
Parp3	T	C	9: 106,352,052 (GRCm39)	S107G	probably benign	Het
Pcdhb18	G	A	18: 37,624,950 (GRCm39)	G760D	probably benign	Het
Plekhh1	G	A	12: 79,087,351 (GRCm39)	W13*	probably null	Het
Poglut3	T	A	9: 53,301,741 (GRCm39)	V131E	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Ppp1r10	C	T	17: 36,240,326 (GRCm39)	P539S	probably benign	Het
Prdm11	T	C	2: 92,817,036 (GRCm39)	T310A	probably benign	Het
Rbm25	A	G	12: 83,722,908 (GRCm39)	Y777C	probably damaging	Het
Relt	A	T	7: 100,500,655 (GRCm39)	C72S	probably damaging	Het
Rhag	T	A	17: 41,145,549 (GRCm39)	I334N	probably damaging	Het
Rhbdf2	A	C	11: 116,491,245 (GRCm39)	L630R	probably damaging	Het
Rnps1	T	C	17: 24,644,061 (GRCm39)	S274P	unknown	Het
Rtkn2	A	G	10: 67,841,466 (GRCm39)	I205V	probably benign	Het
Ryr1	A	T	7: 28,713,292 (GRCm39)	V4690E	probably benign	Het
Secisbp2l	T	C	2: 125,602,199 (GRCm39)	Y387C	possibly damaging	Het
Sema3d	A	T	5: 12,547,551 (GRCm39)	I158F	probably damaging	Het
Slc17a1	A	G	13: 24,058,690 (GRCm39)	N48S	probably benign	Het
Slc2a1	G	A	4: 118,989,752 (GRCm39)	G130S	probably damaging	Het
Slc6a3	T	C	13: 73,710,546 (GRCm39)		probably null	Het
Snx27	A	T	3: 94,436,233 (GRCm39)	S261T	probably damaging	Het
Spag17	A	T	3: 99,846,691 (GRCm39)	I72F	possibly damaging	Het
Spink6	T	G	18: 44,204,564 (GRCm39)	L10R	unknown	Het
Swt1	G	A	1: 151,264,444 (GRCm39)	T690I	probably benign	Het
Syne2	G	A	12: 75,962,020 (GRCm39)	E729K	not run	Het
Synj2	C	T	17: 6,088,005 (GRCm39)	T1352M	possibly damaging	Het
Taar4	G	A	10: 23,836,957 (GRCm39)	G189D	probably damaging	Het
Thsd4	T	C	9: 59,964,170 (GRCm39)	N441D	probably damaging	Het
Tm9sf2	A	G	14: 122,378,640 (GRCm39)	D248G	probably benign	Het
Tmem69	A	T	4: 116,410,664 (GRCm39)	L102Q	probably damaging	Het
Tshr	A	G	12: 91,464,548 (GRCm39)	Y98C	probably damaging	Het
Tspan1	A	G	4: 116,020,219 (GRCm39)	V230A	probably benign	Het
Upk3a	T	C	15: 84,903,709 (GRCm39)	V136A	possibly damaging	Het
Ush2a	T	A	1: 188,365,924 (GRCm39)	N2259K	probably damaging	Het
Usp24	A	G	4: 106,264,232 (GRCm39)	D1721G	possibly damaging	Het
Vldlr	T	A	19: 27,213,674 (GRCm39)	C120*	probably null	Het
Vmn2r23	A	T	6: 123,681,538 (GRCm39)	I149L	probably benign	Het
Vps8	A	T	16: 21,253,722 (GRCm39)	E21V	possibly damaging	Het
Wdr35	A	G	12: 9,062,685 (GRCm39)	I635V	probably damaging	Het
Zfp955a	T	C	17: 33,462,720 (GRCm39)	D58G	probably benign	Het
Zkscan5	A	G	5: 145,155,403 (GRCm39)	Q358R	probably benign	Het

Other mutations in Or8s5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Or8s5	APN	15	98,238,054 (GRCm39)	missense	possibly damaging	0.47
IGL02904:Or8s5	APN	15	98,238,729 (GRCm39)	missense	probably null	0.88
PIT4378001:Or8s5	UTSW	15	98,238,153 (GRCm39)	missense	possibly damaging	0.95
R0485:Or8s5	UTSW	15	98,238,810 (GRCm39)	missense	probably benign	0.01
R1435:Or8s5	UTSW	15	98,238,209 (GRCm39)	missense	possibly damaging	0.69
R4706:Or8s5	UTSW	15	98,238,659 (GRCm39)	missense	possibly damaging	0.62
R4707:Or8s5	UTSW	15	98,238,659 (GRCm39)	missense	possibly damaging	0.62
R5272:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5314:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5315:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5316:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5317:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5456:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5458:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5548:Or8s5	UTSW	15	98,238,253 (GRCm39)	missense	probably benign	0.21
R5717:Or8s5	UTSW	15	98,238,246 (GRCm39)	missense	probably benign	0.00
R5921:Or8s5	UTSW	15	98,238,310 (GRCm39)	missense	probably benign	0.10
R6519:Or8s5	UTSW	15	98,237,929 (GRCm39)	missense	probably benign	0.00
R6636:Or8s5	UTSW	15	98,238,831 (GRCm39)	missense	probably benign	0.23
R7112:Or8s5	UTSW	15	98,238,421 (GRCm39)	missense	possibly damaging	0.81
R7289:Or8s5	UTSW	15	98,237,943 (GRCm39)	missense	probably damaging	1.00
R7392:Or8s5	UTSW	15	98,238,192 (GRCm39)	missense	probably benign	0.03
R7633:Or8s5	UTSW	15	98,237,967 (GRCm39)	missense	probably damaging	1.00
R7724:Or8s5	UTSW	15	98,238,775 (GRCm39)	missense	possibly damaging	0.89
R9451:Or8s5	UTSW	15	98,238,144 (GRCm39)	missense	possibly damaging	0.61
R9707:Or8s5	UTSW	15	98,238,154 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGCATGTAACATCTTCCATCATG -3'
(R):5'- GCTCTTATGGCCGCATTGTC -3'

Sequencing Primer
(F):5'- TCTTCCATCATGAATGAACAACC -3'
(R):5'- ATTGTCACCACTGTCCTGAGGG -3'

Posted On

2019-09-13