Mutagenetix > Incidental Mutation

Incidental Mutation 'R8985:Or51k1'

683964

Institutional Source

Beutler Lab

Gene Symbol

Or51k1

Ensembl Gene

ENSMUSG00000066263

Gene Name

olfactory receptor family 51 subfamily K member 1

Synonyms

GA_x6K02T2PBJ9-6747143-6746193, MOR12-1, Olfr639

MMRRC Submission

068818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103660957-103661907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103661367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 181 (C181S)

Ref Sequence

ENSEMBL: ENSMUSP00000149743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106862] [ENSMUST00000138055] [ENSMUST00000215653]

AlphaFold

Q8VGY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000106862
AA Change: C181S

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

SMART Domains

Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: C181S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.4e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	173	3.6e-9	PFAM
Pfam:7tm_1	43	294	4.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000215653
AA Change: C181S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,141,860 (GRCm39)		probably benign	Het
Agbl1	C	A	7: 75,969,904 (GRCm39)	S53R		Het
Ahr	T	C	12: 35,576,736 (GRCm39)	K65R	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankrd52	T	C	10: 128,222,978 (GRCm39)	S643P	probably damaging	Het
Asz1	T	C	6: 18,051,336 (GRCm39)	T448A	probably benign	Het
Atp10a	A	G	7: 58,438,092 (GRCm39)	I425V	probably benign	Het
Casd1	T	A	6: 4,624,399 (GRCm39)	Y397*	probably null	Het
Ccdc162	A	G	10: 41,432,102 (GRCm39)	I1797T	probably damaging	Het
Cdc20b	A	T	13: 113,196,330 (GRCm39)	R152*	probably null	Het
Cdc25b	T	C	2: 131,035,180 (GRCm39)	C313R	probably damaging	Het
Cfap73	T	A	5: 120,768,123 (GRCm39)	T212S	probably benign	Het
Chd9	G	T	8: 91,721,101 (GRCm39)	R963L	unknown	Het
Clip4	G	T	17: 72,113,527 (GRCm39)	V226F	probably damaging	Het
Cmya5	A	G	13: 93,233,664 (GRCm39)	S475P	possibly damaging	Het
Cntn5	A	G	9: 10,171,960 (GRCm39)	Y75H	possibly damaging	Het
Crtc1	T	G	8: 70,855,092 (GRCm39)	H176P	probably damaging	Het
Cspg5	T	C	9: 110,085,502 (GRCm39)	W558R	unknown	Het
Cyp2c39	A	G	19: 39,552,419 (GRCm39)	T371A	probably benign	Het
Dcaf8	G	A	1: 172,000,199 (GRCm39)	R119H	probably benign	Het
Drosha	G	T	15: 12,924,187 (GRCm39)	A1190S	possibly damaging	Het
Dst	T	C	1: 34,288,886 (GRCm39)	V5655A	probably benign	Het
Etnk1	C	G	6: 143,140,953 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,440,499 (GRCm39)	V269D	probably benign	Het
Foxs1	T	A	2: 152,775,058 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,141,595 (GRCm39)	Y551C	possibly damaging	Het
Fzd6	A	T	15: 38,895,019 (GRCm39)	H395L	probably damaging	Het
Grm6	C	T	11: 50,746,537 (GRCm39)	A289V	possibly damaging	Het
Hook1	A	G	4: 95,910,468 (GRCm39)	D694G	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igha	T	C	12: 113,222,611 (GRCm39)	E270G		Het
Itga2b	C	A	11: 102,356,288 (GRCm39)		probably benign	Het
Jade1	A	C	3: 41,568,148 (GRCm39)	S739R	probably benign	Het
Lpin3	T	C	2: 160,738,674 (GRCm39)	S209P	probably benign	Het
Ly6i	A	C	15: 74,851,806 (GRCm39)	L121R	probably damaging	Het
Ms4a1	C	T	19: 11,232,055 (GRCm39)	V107I	probably benign	Het
Mycbpap	T	A	11: 94,404,722 (GRCm39)	T74S	probably benign	Het
Nlrp14	A	G	7: 106,796,436 (GRCm39)	N921D	probably benign	Het
Nmur1	C	T	1: 86,314,103 (GRCm39)	E388K	probably benign	Het
Nol4	T	C	18: 23,085,294 (GRCm39)	Y40C	probably damaging	Het
Or1e1c	T	C	11: 73,266,252 (GRCm39)	S229P	possibly damaging	Het
Or8b51	A	T	9: 38,569,621 (GRCm39)	Y22*	probably null	Het
Pawr	G	A	10: 108,247,861 (GRCm39)	V283M	possibly damaging	Het
Pde6b	T	C	5: 108,578,503 (GRCm39)	Y814H	probably benign	Het
Pds5b	T	A	5: 150,724,239 (GRCm39)	L1272H	probably benign	Het
Pkd1l2	T	C	8: 117,764,849 (GRCm39)	T1350A	probably benign	Het
Plcz1	T	A	6: 139,961,903 (GRCm39)	Q216L	possibly damaging	Het
Prodh	A	T	16: 17,890,362 (GRCm39)	C522S	probably null	Het
Rasef	G	T	4: 73,708,960 (GRCm39)	P91Q	possibly damaging	Het
Rgs14	G	A	13: 55,531,234 (GRCm39)		probably benign	Het
Rnase6	A	T	14: 51,367,632 (GRCm39)	Y8F	unknown	Het
Rnf216	T	A	5: 143,076,180 (GRCm39)	T235S	probably benign	Het
Slco2a1	G	A	9: 102,949,834 (GRCm39)		probably null	Het
Smoc1	A	G	12: 81,226,261 (GRCm39)	E362G	probably damaging	Het
Sncaip	T	C	18: 53,002,169 (GRCm39)	L230P	probably benign	Het
Tdrd3	A	G	14: 87,743,597 (GRCm39)	E515G	possibly damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tmem9	T	A	1: 135,955,145 (GRCm39)	V93D	possibly damaging	Het
Tpm3-rs7	A	C	14: 113,552,756 (GRCm39)	I217L	probably benign	Het
Ttc41	A	T	10: 86,566,956 (GRCm39)	I541F	possibly damaging	Het
Uck2	T	C	1: 167,070,681 (GRCm39)	D16G	probably benign	Het
Vmn1r50	A	G	6: 90,085,017 (GRCm39)	D254G	probably benign	Het
Vmn2r50	A	C	7: 9,779,974 (GRCm39)	F469C	probably damaging	Het
Vmn2r57	A	G	7: 41,049,259 (GRCm39)	V830A	probably benign	Het
Wwc2	T	A	8: 48,331,919 (GRCm39)	R299S	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Xkr9	A	T	1: 13,770,990 (GRCm39)	M169L	probably benign	Het
Zbtb10	A	G	3: 9,345,807 (GRCm39)	D767G	probably damaging	Het
Zfp106	T	C	2: 120,366,077 (GRCm39)	Y65C		Het
Zfp536	A	G	7: 37,268,228 (GRCm39)	L396P	probably damaging	Het
Znhit1	C	A	5: 137,011,408 (GRCm39)	C135F	probably damaging	Het
Zscan5b	A	G	7: 6,241,834 (GRCm39)	E351G	probably damaging	Het

Other mutations in Or51k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Or51k1	APN	7	103,661,321 (GRCm39)	missense	probably damaging	1.00
IGL01547:Or51k1	APN	7	103,661,867 (GRCm39)	missense	probably benign	0.43
IGL02173:Or51k1	APN	7	103,661,037 (GRCm39)	missense	probably damaging	1.00
IGL02707:Or51k1	APN	7	103,661,609 (GRCm39)	missense	probably damaging	1.00
IGL03124:Or51k1	APN	7	103,661,001 (GRCm39)	missense	probably benign
R0004:Or51k1	UTSW	7	103,661,638 (GRCm39)	missense	probably benign	0.02
R0086:Or51k1	UTSW	7	103,661,261 (GRCm39)	missense	probably benign	0.23
R0370:Or51k1	UTSW	7	103,661,266 (GRCm39)	missense	probably damaging	0.99
R0599:Or51k1	UTSW	7	103,661,395 (GRCm39)	nonsense	probably null
R1351:Or51k1	UTSW	7	103,661,523 (GRCm39)	missense	possibly damaging	0.81
R1604:Or51k1	UTSW	7	103,661,162 (GRCm39)	missense	probably damaging	1.00
R2314:Or51k1	UTSW	7	103,661,436 (GRCm39)	missense	probably benign	0.09
R2656:Or51k1	UTSW	7	103,661,072 (GRCm39)	missense	probably damaging	0.96
R4594:Or51k1	UTSW	7	103,661,624 (GRCm39)	missense	probably benign	0.01
R4774:Or51k1	UTSW	7	103,661,795 (GRCm39)	missense	probably benign	0.00
R4945:Or51k1	UTSW	7	103,661,585 (GRCm39)	missense	possibly damaging	0.85
R4968:Or51k1	UTSW	7	103,661,777 (GRCm39)	missense	probably damaging	1.00
R4981:Or51k1	UTSW	7	103,661,312 (GRCm39)	missense	probably damaging	0.97
R5072:Or51k1	UTSW	7	103,661,325 (GRCm39)	missense	probably damaging	0.97
R5982:Or51k1	UTSW	7	103,661,117 (GRCm39)	missense	probably damaging	1.00
R6303:Or51k1	UTSW	7	103,661,238 (GRCm39)	missense	probably damaging	1.00
R6304:Or51k1	UTSW	7	103,661,238 (GRCm39)	missense	probably damaging	1.00
R6332:Or51k1	UTSW	7	103,660,980 (GRCm39)	missense	probably benign	0.00
R7107:Or51k1	UTSW	7	103,661,489 (GRCm39)	missense	probably benign	0.16
R7152:Or51k1	UTSW	7	103,661,226 (GRCm39)	missense	probably benign
R7456:Or51k1	UTSW	7	103,661,045 (GRCm39)	missense	possibly damaging	0.83
R7849:Or51k1	UTSW	7	103,661,510 (GRCm39)	missense	possibly damaging	0.56
R8023:Or51k1	UTSW	7	103,661,006 (GRCm39)	missense	probably damaging	0.97
R8082:Or51k1	UTSW	7	103,661,897 (GRCm39)	missense	probably benign	0.04
R8215:Or51k1	UTSW	7	103,661,330 (GRCm39)	missense	possibly damaging	0.85
R8428:Or51k1	UTSW	7	103,661,632 (GRCm39)	nonsense	probably null
R9261:Or51k1	UTSW	7	103,661,336 (GRCm39)	missense	probably damaging	1.00
Z1177:Or51k1	UTSW	7	103,661,357 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACACATGTGTTGAGGGTCTTC -3'
(R):5'- CACTTTCTCTGGCATGGAGTC -3'

Sequencing Primer
(F):5'- TTCTTCCGACCCTCACCAGAAG -3'
(R):5'- AGTCCTATTGGCCATGAGTTATGACC -3'

Posted On

2021-10-11