Mutagenetix > Incidental Mutation

Incidental Mutation 'R2392:Or5k14'

247836

Institutional Source

Beutler Lab

Gene Symbol

Or5k14

Ensembl Gene

ENSMUSG00000063137

Gene Name

olfactory receptor family 5 subfamily K member 14

Synonyms

Olfr176, GA_x54KRFPKG5P-55091371-55090442, MOR184-8, GA_x54KRFPKG5P-55043245-55042289, Olfr177, MOR184-7

MMRRC Submission

040360-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R2392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58689766-58693511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58692797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 239 (S239P)

Ref Sequence

ENSEMBL: ENSMUSP00000150269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072853] [ENSMUST00000217377]

AlphaFold

E9Q7W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000072853
AA Change: S239P

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

SMART Domains

Protein: ENSMUSP00000072631
Gene: ENSMUSG00000063137
AA Change: S239P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.7e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	254	8.3e-6	PFAM
Pfam:7tm_1	41	290	1.2e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205920
AA Change: S239P

Predicted Effect

probably damaging
Transcript: ENSMUST00000217377
AA Change: S239P

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

Meta Mutation Damage Score

0.5930

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,297,264 (GRCm39)	S2409T	probably damaging	Het
Acap2	A	G	16: 30,958,458 (GRCm39)	F120S	probably damaging	Het
Akr1c6	A	G	13: 4,484,477 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,963,573 (GRCm39)	A1874S	probably damaging	Het
Ccnl1	A	G	3: 65,856,173 (GRCm39)	V244A	probably damaging	Het
Cenpe	T	G	3: 134,953,874 (GRCm39)	L1628R	probably damaging	Het
Cfap54	A	G	10: 92,860,873 (GRCm39)		probably null	Het
Chchd7	T	A	4: 3,943,381 (GRCm39)		probably null	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crybg2	G	T	4: 133,799,925 (GRCm39)	V362L	probably benign	Het
Ddx11	T	A	17: 66,456,968 (GRCm39)	V791E	probably damaging	Het
Disp1	G	A	1: 182,868,731 (GRCm39)	P1230S	probably benign	Het
Elp5	T	C	11: 69,865,928 (GRCm39)	H116R	probably benign	Het
Epb42	T	C	2: 120,860,468 (GRCm39)	E177G	possibly damaging	Het
F13a1	T	A	13: 37,127,971 (GRCm39)	I336F	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcsk	A	G	8: 111,616,356 (GRCm39)	M453T	probably benign	Het
Hacd2	A	T	16: 34,926,748 (GRCm39)	E249V	probably benign	Het
Hnrnpf	C	A	6: 117,901,829 (GRCm39)	A371D	possibly damaging	Het
Jmjd1c	A	G	10: 67,065,683 (GRCm39)	T1703A	probably damaging	Het
Kcnj13	G	A	1: 87,314,622 (GRCm39)	T200I	possibly damaging	Het
Kif1b	G	A	4: 149,305,077 (GRCm39)	T949M	possibly damaging	Het
Klhl35	G	A	7: 99,123,031 (GRCm39)	A552T	possibly damaging	Het
Krt74	A	G	15: 101,665,236 (GRCm39)		noncoding transcript	Het
Krtap14	T	A	16: 88,622,597 (GRCm39)		probably null	Het
Lrrc45	A	G	11: 120,610,365 (GRCm39)	N492S	probably benign	Het
Lrrcc1	T	A	3: 14,601,580 (GRCm39)	N114K	probably damaging	Het
Mfsd2b	T	C	12: 4,915,164 (GRCm39)	D375G	possibly damaging	Het
Mgat4a	A	G	1: 37,537,785 (GRCm39)	L44P	probably damaging	Het
Mttp	A	C	3: 137,800,782 (GRCm39)	D774E	probably damaging	Het
Myo5a	T	C	9: 75,116,521 (GRCm39)	V1554A	probably benign	Het
Nes	C	T	3: 87,883,250 (GRCm39)	A503V	probably benign	Het
Nme8	A	G	13: 19,873,113 (GRCm39)		probably null	Het
Nr4a1	A	G	15: 101,172,075 (GRCm39)	D583G	possibly damaging	Het
Or12d17	A	G	17: 37,777,310 (GRCm39)	Y71C	probably damaging	Het
Pnpla8	T	A	12: 44,358,287 (GRCm39)	L746I	probably damaging	Het
Ppp1r7	A	T	1: 93,282,063 (GRCm39)	I205F	probably benign	Het
Psd4	C	A	2: 24,284,679 (GRCm39)	P181Q	probably damaging	Het
Ripor2	G	A	13: 24,890,206 (GRCm39)	V694I	probably benign	Het
Scn10a	A	G	9: 119,456,268 (GRCm39)	S1185P	possibly damaging	Het
Sec23b	T	A	2: 144,427,507 (GRCm39)		probably null	Het
Slfn2	A	G	11: 82,956,154 (GRCm39)	N12S	possibly damaging	Het
Slfn4	A	G	11: 83,076,248 (GRCm39)	K38R	possibly damaging	Het
Smarca2	G	T	19: 26,618,050 (GRCm39)		probably null	Het
Taar4	A	G	10: 23,837,172 (GRCm39)	T261A	possibly damaging	Het
Tbl2	A	G	5: 135,185,368 (GRCm39)	D159G	probably benign	Het
Tmem120a	T	C	5: 135,770,892 (GRCm39)	E55G	probably damaging	Het
Ttc21b	A	G	2: 66,037,794 (GRCm39)		probably null	Het
Vill	A	T	9: 118,896,628 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,487,130 (GRCm39)	M511K	probably damaging	Het
Vmn2r81	A	T	10: 79,110,516 (GRCm39)	D543V	probably damaging	Het
Wdr95	A	G	5: 149,504,135 (GRCm39)	T314A	probably benign	Het
Zbtb8b	A	G	4: 129,326,982 (GRCm39)	I61T	probably damaging	Het

Other mutations in Or5k14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Or5k14	APN	16	58,693,399 (GRCm39)	missense	probably damaging	1.00
IGL02223:Or5k14	APN	16	58,693,057 (GRCm39)	missense	probably damaging	1.00
R0131:Or5k14	UTSW	16	58,693,269 (GRCm39)	missense	probably benign	0.01
R0131:Or5k14	UTSW	16	58,693,269 (GRCm39)	missense	probably benign	0.01
R0132:Or5k14	UTSW	16	58,693,269 (GRCm39)	missense	probably benign	0.01
R0245:Or5k14	UTSW	16	58,693,229 (GRCm39)	missense	probably benign	0.01
R0717:Or5k14	UTSW	16	58,693,133 (GRCm39)	missense	probably damaging	1.00
R0975:Or5k14	UTSW	16	58,693,513 (GRCm39)	splice site	probably null
R1037:Or5k14	UTSW	16	58,693,333 (GRCm39)	missense	probably damaging	1.00
R1256:Or5k14	UTSW	16	58,693,206 (GRCm39)	nonsense	probably null
R1278:Or5k14	UTSW	16	58,693,340 (GRCm39)	missense	probably damaging	1.00
R1538:Or5k14	UTSW	16	58,693,261 (GRCm39)	missense	probably damaging	1.00
R1992:Or5k14	UTSW	16	58,692,874 (GRCm39)	missense	probably benign	0.43
R2173:Or5k14	UTSW	16	58,692,982 (GRCm39)	missense	probably damaging	0.99
R5651:Or5k14	UTSW	16	58,692,847 (GRCm39)	missense	probably damaging	0.99
R5652:Or5k14	UTSW	16	58,692,847 (GRCm39)	missense	probably damaging	0.99
R5653:Or5k14	UTSW	16	58,692,847 (GRCm39)	missense	probably damaging	0.99
R8031:Or5k14	UTSW	16	58,693,054 (GRCm39)	missense	probably benign	0.03
R8108:Or5k14	UTSW	16	58,692,599 (GRCm39)	missense	probably benign
R8531:Or5k14	UTSW	16	58,693,016 (GRCm39)	missense	probably damaging	1.00
R8833:Or5k14	UTSW	16	58,692,959 (GRCm39)	missense	probably damaging	0.99
R9150:Or5k14	UTSW	16	58,693,005 (GRCm39)	nonsense	probably null
R9318:Or5k14	UTSW	16	58,692,748 (GRCm39)	missense	probably damaging	1.00
R9389:Or5k14	UTSW	16	58,692,976 (GRCm39)	missense	probably damaging	1.00
V8831:Or5k14	UTSW	16	58,693,438 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GGTATGGGATCAAAAGTTGCAC -3'
(R):5'- GATGTCCTTCCCCTATACAGAC -3'

Sequencing Primer
(F):5'- ATGCATGCTAATGTGTATTTCTAGG -3'
(R):5'- ATACAGACTCTCATGTGTTGACC -3'

Posted On

2014-11-11