Mutagenetix > Incidental Mutation

Incidental Mutation 'R4670:Or8k37'

348343

Institutional Source

Beutler Lab

Gene Symbol

Or8k37

Ensembl Gene

ENSMUSG00000110804

Gene Name

olfactory receptor family 8 subfamily K member 37

Synonyms

MOR192-3, MOR192-2, GA_x6K02T2Q125-48121788-48120847, Olfr1084

MMRRC Submission

041926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R4670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86469109-86470062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86469512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 180 (D180G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000216851]

AlphaFold

A0A1L1STZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099880
AA Change: D180G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097465
Gene: ENSMUSG00000075177
AA Change: D180G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5.9e-48	PFAM
Pfam:7tm_1	41	290	7.6e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216851
AA Change: D180G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (69/71)

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
Acsm5	T	A	7: 119,130,983 (GRCm39)		probably null	Het
Alb	T	A	5: 90,610,665 (GRCm39)	S82T	probably benign	Het
Arf4	A	G	14: 26,374,248 (GRCm39)		probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Arhgap32	A	G	9: 32,081,441 (GRCm39)	E153G	probably benign	Het
Arhgef18	T	A	8: 3,484,897 (GRCm39)	M200K	probably damaging	Het
Atp1a4	T	A	1: 172,062,567 (GRCm39)	N647Y	probably benign	Het
Atp5f1c	A	T	2: 10,064,428 (GRCm39)	L226Q	probably damaging	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cadm3	T	A	1: 173,174,013 (GRCm39)	T67S	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Chst7	C	A	X: 19,927,110 (GRCm39)	R386S	probably damaging	Het
Cyp4f37	A	T	17: 32,844,126 (GRCm39)	M77L	probably benign	Het
Dnah7b	A	T	1: 46,117,684 (GRCm39)	D50V	probably damaging	Het
Galnt4	A	G	10: 98,945,160 (GRCm39)	D295G	possibly damaging	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm6471	G	A	7: 142,385,360 (GRCm39)		noncoding transcript	Het
Gm6818	T	A	7: 38,101,981 (GRCm39)		noncoding transcript	Het
Gm9271	T	A	7: 39,013,734 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Ift140	C	A	17: 25,317,935 (GRCm39)		probably benign	Het
Itih5	A	C	2: 10,195,180 (GRCm39)	I191L	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kank1	T	C	19: 25,387,944 (GRCm39)	M511T	probably benign	Het
Krt74	A	T	15: 101,667,304 (GRCm39)		noncoding transcript	Het
Lrrc37a	A	G	11: 103,395,363 (GRCm39)	S21P	probably benign	Het
Lrrc8c	G	A	5: 105,756,240 (GRCm39)	V672I	probably benign	Het
Lypd4	T	C	7: 24,566,151 (GRCm39)	R58G	probably benign	Het
Magi1	A	T	6: 93,663,624 (GRCm39)		probably null	Het
Mefv	T	A	16: 3,526,071 (GRCm39)	L745F	possibly damaging	Het
Myh13	A	T	11: 67,255,564 (GRCm39)	K1645*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,171,382 (GRCm39)		noncoding transcript	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or51aa2	A	G	7: 103,188,393 (GRCm39)	V16A	possibly damaging	Het
Or6k6	T	A	1: 173,945,427 (GRCm39)	M52L	probably benign	Het
P2ry12	T	C	3: 59,125,325 (GRCm39)		probably null	Het
Pcx	T	A	19: 4,669,916 (GRCm39)	V861E	probably damaging	Het
Pkp3	C	T	7: 140,662,612 (GRCm39)	P75S	probably benign	Het
Plscr4	T	C	9: 92,364,920 (GRCm39)		probably null	Het
Pole	A	G	5: 110,454,253 (GRCm39)	T923A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rhot2	A	C	17: 26,060,305 (GRCm39)		probably benign	Het
Rsrp1	A	G	4: 134,651,488 (GRCm39)	Y84C	unknown	Het
Sbf2	T	C	7: 109,934,606 (GRCm39)	K1348E	probably damaging	Het
Sgip1	A	T	4: 102,726,951 (GRCm39)	N53Y	probably damaging	Het
Snapc2	A	G	8: 4,304,998 (GRCm39)	T127A	possibly damaging	Het
Snx8	A	G	5: 140,341,713 (GRCm39)		probably null	Het
Spag8	A	G	4: 43,653,378 (GRCm39)		probably benign	Het
Srebf2	T	C	15: 82,076,503 (GRCm39)	F718L	probably damaging	Het
Szt2	C	G	4: 118,233,026 (GRCm39)		probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Tubgcp4	T	A	2: 121,004,146 (GRCm39)	Y62*	probably null	Het
Usp29	T	A	7: 6,965,914 (GRCm39)	S586T	possibly damaging	Het
Vasp	T	C	7: 18,998,350 (GRCm39)	N108S	probably benign	Het
Vmn1r214	A	G	13: 23,219,141 (GRCm39)	M212V	probably benign	Het
Wipi2	G	C	5: 142,645,345 (GRCm39)	A194P	probably benign	Het
Zbtb4	T	A	11: 69,667,355 (GRCm39)	I220N	probably damaging	Het
Zcchc2	A	T	1: 105,917,996 (GRCm39)		probably benign	Het
Zfp729a	T	A	13: 67,769,534 (GRCm39)	K232*	probably null	Het
Zfp995	A	T	17: 22,106,320 (GRCm39)	M1K	probably null	Het

Other mutations in Or8k37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Or8k37	APN	2	86,469,510 (GRCm39)	missense	probably benign	0.01
IGL01376:Or8k37	APN	2	86,469,953 (GRCm39)	missense	probably benign	0.00
IGL01387:Or8k37	APN	2	86,469,594 (GRCm39)	missense	probably benign	0.03
IGL01549:Or8k37	APN	2	86,469,876 (GRCm39)	missense	possibly damaging	0.95
IGL01549:Or8k37	APN	2	86,469,705 (GRCm39)	missense	probably benign	0.29
IGL01572:Or8k37	APN	2	86,469,283 (GRCm39)	missense	possibly damaging	0.92
IGL02084:Or8k37	APN	2	86,469,980 (GRCm39)	missense	possibly damaging	0.89
IGL02289:Or8k37	APN	2	86,469,863 (GRCm39)	missense	probably damaging	1.00
IGL02422:Or8k37	APN	2	86,469,560 (GRCm39)	missense	probably damaging	0.99
IGL02691:Or8k37	APN	2	86,469,182 (GRCm39)	missense	probably damaging	1.00
IGL02829:Or8k37	APN	2	86,469,599 (GRCm39)	missense	possibly damaging	0.60
IGL02859:Or8k37	APN	2	86,469,992 (GRCm39)	missense	probably benign	0.01
R0441:Or8k37	UTSW	2	86,469,674 (GRCm39)	missense	probably damaging	1.00
R0546:Or8k37	UTSW	2	86,469,573 (GRCm39)	missense	possibly damaging	0.86
R1186:Or8k37	UTSW	2	86,469,807 (GRCm39)	missense	probably damaging	1.00
R4465:Or8k37	UTSW	2	86,469,478 (GRCm39)	missense	probably benign	0.28
R4554:Or8k37	UTSW	2	86,469,123 (GRCm39)	missense	possibly damaging	0.74
R4945:Or8k37	UTSW	2	86,469,833 (GRCm39)	missense	probably damaging	0.99
R5348:Or8k37	UTSW	2	86,469,150 (GRCm39)	missense	probably benign	0.39
R5888:Or8k37	UTSW	2	86,469,488 (GRCm39)	missense	probably damaging	0.98
R7001:Or8k37	UTSW	2	86,469,495 (GRCm39)	missense	probably benign	0.20
R7258:Or8k37	UTSW	2	86,469,345 (GRCm39)	nonsense	probably null
R7526:Or8k37	UTSW	2	86,470,013 (GRCm39)	missense	possibly damaging	0.93
R7646:Or8k37	UTSW	2	86,469,513 (GRCm39)	missense	probably damaging	1.00
R7915:Or8k37	UTSW	2	86,469,110 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGCTTTGCGTCTGCCCTC -3'
(R):5'- CTTCTGTTCATTGGCAGTGACC -3'

Sequencing Primer
(F):5'- CTCAGCAGAGTTCATCCTGAG -3'
(R):5'- CTATGACCGCTATGTGGCCATATG -3'

Posted On

2015-10-08