Mutagenetix > Incidental Mutation

Incidental Mutation 'R0062:Or10ak14'

18091

Institutional Source

Beutler Lab

Gene Symbol

Or10ak14

Ensembl Gene

ENSMUSG00000095218

Gene Name

olfactory receptor family 10 subfamily AK member 14

Synonyms

GA_x6K02T2QD9B-18795136-18796077, MOR259-4P, MOR259-9, Olfr1338, MOR259-4P, Olfr1524-ps1

MMRRC Submission

038354-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.727) question?

Stock #

R0062 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

118610386-118614155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118611100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 212 (I212V)

Ref Sequence

ENSEMBL: ENSMUSP00000092427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084315] [ENSMUST00000214922] [ENSMUST00000216559]

AlphaFold

A0A1L1SSB4

Predicted Effect

probably benign
Transcript: ENSMUST00000084315
AA Change: I212V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: I212V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	3.3e-55	PFAM
Pfam:7TM_GPCR_Srsx	36	306	1e-8	PFAM
Pfam:7tm_1	42	291	1.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214922
AA Change: I214V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216559
AA Change: I214V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.3%
3x: 88.1%
10x: 83.4%
20x: 77.5%

Validation Efficiency

91% (72/79)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,614,511 (GRCm39)		probably benign	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Chl1	A	T	6: 103,726,613 (GRCm39)	Y1143F	unknown	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,475,989 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,305,624 (GRCm39)	E250G	possibly damaging	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mthfd1	G	A	12: 76,344,363 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or4c118	T	C	2: 88,974,966 (GRCm39)	I134V	possibly damaging	Het
Pcdha1	T	A	18: 37,139,681 (GRCm39)	W437R	probably benign	Het
Pcdhga11	T	G	18: 37,941,528 (GRCm39)	I643S	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Pja2	C	A	17: 64,615,966 (GRCm39)	V310L	probably damaging	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,806,456 (GRCm39)	T114I	possibly damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	probably benign	Het

Other mutations in Or10ak14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Or10ak14	APN	4	118,610,959 (GRCm39)	missense	possibly damaging	0.78
IGL02726:Or10ak14	APN	4	118,610,961 (GRCm39)	missense	probably benign	0.00
IGL02928:Or10ak14	APN	4	118,611,697 (GRCm39)	missense	probably damaging	1.00
IGL03102:Or10ak14	APN	4	118,611,131 (GRCm39)	missense	probably benign	0.00
R0062:Or10ak14	UTSW	4	118,611,100 (GRCm39)	missense	probably benign	0.00
R0299:Or10ak14	UTSW	4	118,611,732 (GRCm39)	start codon destroyed	probably null	0.82
R0501:Or10ak14	UTSW	4	118,611,027 (GRCm39)	missense	probably benign	0.00
R1301:Or10ak14	UTSW	4	118,610,816 (GRCm39)	missense	probably benign
R1719:Or10ak14	UTSW	4	118,610,797 (GRCm39)	missense	possibly damaging	0.78
R2327:Or10ak14	UTSW	4	118,611,331 (GRCm39)	missense	probably benign	0.13
R3110:Or10ak14	UTSW	4	118,611,421 (GRCm39)	missense	probably damaging	0.99
R3112:Or10ak14	UTSW	4	118,611,421 (GRCm39)	missense	probably damaging	0.99
R4582:Or10ak14	UTSW	4	118,611,090 (GRCm39)	missense	probably damaging	1.00
R4615:Or10ak14	UTSW	4	118,611,334 (GRCm39)	missense	probably benign	0.34
R5640:Or10ak14	UTSW	4	118,610,986 (GRCm39)	missense	probably benign	0.07
R6513:Or10ak14	UTSW	4	118,611,224 (GRCm39)	nonsense	probably null
R6889:Or10ak14	UTSW	4	118,611,504 (GRCm39)	missense	probably damaging	0.99
R7157:Or10ak14	UTSW	4	118,611,615 (GRCm39)	missense	possibly damaging	0.93
R7168:Or10ak14	UTSW	4	118,611,048 (GRCm39)	missense	probably damaging	0.98
R7378:Or10ak14	UTSW	4	118,611,372 (GRCm39)	missense	possibly damaging	0.74
R7451:Or10ak14	UTSW	4	118,610,884 (GRCm39)	missense	probably benign	0.03
R7770:Or10ak14	UTSW	4	118,611,254 (GRCm39)	missense	probably benign	0.04
R7847:Or10ak14	UTSW	4	118,611,565 (GRCm39)	missense	possibly damaging	0.79
R8839:Or10ak14	UTSW	4	118,611,411 (GRCm39)	missense	probably damaging	0.99
R8942:Or10ak14	UTSW	4	118,611,594 (GRCm39)	missense	possibly damaging	0.94
R9274:Or10ak14	UTSW	4	118,610,883 (GRCm39)	missense	probably benign	0.03

Posted On

2013-03-25