Mutagenetix > Incidental Mutation

Incidental Mutation 'R5942:Or8h8'

460322

Institutional Source

Beutler Lab

Gene Symbol

Or8h8

Ensembl Gene

ENSMUSG00000075169

Gene Name

olfactory receptor family 8 subfamily H member 8

Synonyms

MOR206-1, Olfr1098, GA_x6K02T2Q125-48410458-48409511

MMRRC Submission

044134-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86752927-86753874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86753750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 42 (N42S)

Ref Sequence

ENSEMBL: ENSMUSP00000107200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099872] [ENSMUST00000111574]

AlphaFold

A2AVB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000099872
AA Change: N42S

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

SMART Domains

Protein: ENSMUSP00000097457
Gene: ENSMUSG00000075169
AA Change: N42S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	7e-29	PFAM
Pfam:7tm_4	140	283	3.3e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111574
AA Change: N42S

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

SMART Domains

Protein: ENSMUSP00000107200
Gene: ENSMUSG00000075169
AA Change: N42S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.8e-52	PFAM
Pfam:7tm_1	41	309	8.1e-20	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.7%
20x: 89.5%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,333 (GRCm39)	V860M	probably benign	Het
Accs	A	T	2: 93,666,392 (GRCm39)	L432M	probably damaging	Het
Actrt3	T	A	3: 30,652,813 (GRCm39)	N94Y	possibly damaging	Het
Adamts18	T	C	8: 114,504,380 (GRCm39)	Q80R	probably benign	Het
Ccr8	G	T	9: 119,923,772 (GRCm39)	V296F	probably damaging	Het
Cep170	T	A	1: 176,583,985 (GRCm39)	E798V	probably damaging	Het
Cttnbp2	T	A	6: 18,448,439 (GRCm39)	E73D	probably damaging	Het
Cyp2a4	A	T	7: 26,010,129 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,117,466 (GRCm39)	Y41*	probably null	Het
Enc1	G	A	13: 97,382,887 (GRCm39)	D466N	probably benign	Het
Enpp1	C	A	10: 24,551,966 (GRCm39)	E138*	probably null	Het
Entrep1	A	G	19: 23,963,834 (GRCm39)	V245A	probably damaging	Het
Ezh2	T	C	6: 47,554,516 (GRCm39)	R27G	possibly damaging	Het
Fut10	A	G	8: 31,691,485 (GRCm39)	N110S	possibly damaging	Het
Glt1d1	A	T	5: 127,721,534 (GRCm39)		probably null	Het
Gm14393	G	A	2: 174,903,689 (GRCm39)	Q73*	probably null	Het
Gpr156	C	T	16: 37,825,264 (GRCm39)	P494S	probably benign	Het
Has2	T	A	15: 56,531,192 (GRCm39)	K508*	probably null	Het
Hc	A	T	2: 34,918,137 (GRCm39)	C715*	probably null	Het
Hook2	C	T	8: 85,721,409 (GRCm39)		probably null	Het
Klhdc7b	A	C	15: 89,271,634 (GRCm39)	I839L	probably benign	Het
Kndc1	T	C	7: 139,516,792 (GRCm39)	L1584P	probably damaging	Het
Lamp1	T	C	8: 13,223,941 (GRCm39)	F358L	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mga	A	G	2: 119,777,440 (GRCm39)	I1871V	probably benign	Het
Mgmt	T	A	7: 136,723,219 (GRCm39)	D96E	probably benign	Het
Morc2a	C	A	11: 3,629,936 (GRCm39)	T424K	probably damaging	Het
Myo1g	A	G	11: 6,464,888 (GRCm39)	L462P	probably damaging	Het
Ncaph	C	A	2: 126,958,608 (GRCm39)		probably null	Het
Nlrc3	A	T	16: 3,767,293 (GRCm39)	D969E	probably damaging	Het
Nt5c3	A	T	6: 56,874,839 (GRCm39)		probably null	Het
Or4c12b	G	T	2: 89,646,684 (GRCm39)	E5*	probably null	Het
Or5ac15	A	T	16: 58,940,039 (GRCm39)	Y131*	probably null	Het
Or5d41	A	C	2: 88,054,916 (GRCm39)	I153M	probably benign	Het
Parp14	C	A	16: 35,659,737 (GRCm39)	M1628I	probably damaging	Het
Parp8	G	T	13: 117,005,969 (GRCm39)	P693Q	probably benign	Het
Parp9	A	G	16: 35,792,259 (GRCm39)	D485G	possibly damaging	Het
Pcdha1	T	A	18: 37,063,444 (GRCm39)	V36D	probably damaging	Het
Pcdhb5	C	T	18: 37,453,838 (GRCm39)	Q73*	probably null	Het
Pecam1	G	T	11: 106,552,809 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,660,277 (GRCm39)	I527V	probably benign	Het
Phf11	G	A	14: 59,497,593 (GRCm39)	P13S	probably benign	Het
Ppp4r4	T	A	12: 103,553,706 (GRCm39)	V388D	possibly damaging	Het
Psmc4	C	T	7: 27,746,480 (GRCm39)	V202I	probably damaging	Het
Ptx3	T	G	3: 66,127,484 (GRCm39)	M1R	probably null	Het
Rimbp3	A	G	16: 17,029,752 (GRCm39)	T1059A	probably benign	Het
Rmdn3	G	A	2: 118,978,058 (GRCm39)	A181V	probably damaging	Het
Rnase10	A	T	14: 51,246,735 (GRCm39)	M38L	probably benign	Het
Sec16b	T	A	1: 157,358,920 (GRCm39)	Y118N	probably damaging	Het
Sigmar1	T	C	4: 41,741,159 (GRCm39)	T32A	probably benign	Het
Srcap	A	G	7: 127,137,180 (GRCm39)	D954G	probably damaging	Het
Tfrc	A	G	16: 32,445,533 (GRCm39)	N618S	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,888 (GRCm39)	D1028G	probably damaging	Het
Tns3	A	T	11: 8,385,860 (GRCm39)	D1379E	probably damaging	Het
Ttn	A	T	2: 76,580,505 (GRCm39)	C23463S	possibly damaging	Het
Ufl1	T	C	4: 25,250,619 (GRCm39)	T745A	probably benign	Het
Vmn1r231	T	A	17: 21,110,417 (GRCm39)	Y166F	possibly damaging	Het
Wbp1l	C	A	19: 46,642,869 (GRCm39)	T290K	probably damaging	Het
Wdr25	A	G	12: 108,864,392 (GRCm39)	N179S	probably benign	Het
Wdr62	G	A	7: 29,942,504 (GRCm39)	Q1035*	probably null	Het
Yif1a	C	T	19: 5,141,669 (GRCm39)	R196C	probably damaging	Het
Zfp352	A	T	4: 90,113,307 (GRCm39)	K482N	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Or8h8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Or8h8	APN	2	86,753,293 (GRCm39)	missense	probably benign
IGL02547:Or8h8	APN	2	86,753,372 (GRCm39)	missense	probably damaging	1.00
IGL02881:Or8h8	APN	2	86,753,057 (GRCm39)	missense	possibly damaging	0.94
IGL03073:Or8h8	APN	2	86,753,697 (GRCm39)	missense	probably damaging	1.00
R0117:Or8h8	UTSW	2	86,753,214 (GRCm39)	missense	probably damaging	1.00
R0808:Or8h8	UTSW	2	86,753,795 (GRCm39)	missense	probably damaging	1.00
R1061:Or8h8	UTSW	2	86,753,126 (GRCm39)	missense	possibly damaging	0.93
R1471:Or8h8	UTSW	2	86,752,922 (GRCm39)	splice site	probably null
R1571:Or8h8	UTSW	2	86,753,789 (GRCm39)	missense	probably benign	0.01
R1680:Or8h8	UTSW	2	86,753,505 (GRCm39)	missense	probably benign	0.10
R2341:Or8h8	UTSW	2	86,752,982 (GRCm39)	missense	possibly damaging	0.63
R2368:Or8h8	UTSW	2	86,753,451 (GRCm39)	missense	probably benign
R3158:Or8h8	UTSW	2	86,752,950 (GRCm39)	missense	probably benign
R3425:Or8h8	UTSW	2	86,752,950 (GRCm39)	missense	probably benign
R3499:Or8h8	UTSW	2	86,753,373 (GRCm39)	missense	possibly damaging	0.94
R4156:Or8h8	UTSW	2	86,753,222 (GRCm39)	missense	probably damaging	1.00
R4526:Or8h8	UTSW	2	86,753,339 (GRCm39)	missense	possibly damaging	0.90
R5743:Or8h8	UTSW	2	86,753,549 (GRCm39)	missense	probably benign	0.01
R6372:Or8h8	UTSW	2	86,753,499 (GRCm39)	missense	probably damaging	1.00
R6409:Or8h8	UTSW	2	86,753,515 (GRCm39)	nonsense	probably null
R6517:Or8h8	UTSW	2	86,753,441 (GRCm39)	missense	probably benign	0.05
R6661:Or8h8	UTSW	2	86,753,492 (GRCm39)	missense	probably benign	0.02
R7075:Or8h8	UTSW	2	86,752,990 (GRCm39)	missense	possibly damaging	0.88
R7166:Or8h8	UTSW	2	86,753,092 (GRCm39)	missense	probably damaging	0.97
R8058:Or8h8	UTSW	2	86,753,151 (GRCm39)	missense	probably benign	0.32
R8234:Or8h8	UTSW	2	86,753,313 (GRCm39)	missense	probably damaging	1.00
R9115:Or8h8	UTSW	2	86,752,998 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTGGGTGAAGCATCCCATG -3'
(R):5'- GGGCCAAAATCTTATCATGTACTC -3'

Sequencing Primer
(F):5'- TGGAGGTCAGCGTATTCT -3'
(R):5'- CTCATGAACTCAACTGTAATACTTCC -3'

Posted On

2017-02-28