Mutagenetix > Incidental Mutation

Incidental Mutation 'R4722:Or10ak12'

354527

Institutional Source

Beutler Lab

Gene Symbol

Or10ak12

Ensembl Gene

ENSMUSG00000066061

Gene Name

olfactory receptor family 10 subfamily AK member 12

Synonyms

GA_x6K02T2QD9B-18726774-18727577, MOR259-5, Olfr1334-ps1, Olfr1335, GA_x6K02T2QD9B-18723799-18724749, MOR259-12

MMRRC Submission

041987-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R4722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118666052-118667059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118666146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 305 (N305S)

Ref Sequence

ENSEMBL: ENSMUSP00000151219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084313] [ENSMUST00000105035] [ENSMUST00000219094]

AlphaFold

B2RVY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084313
AA Change: N289S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081339
Gene: ENSMUSG00000066061
AA Change: N289S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	50	326	2.3e-56	PFAM
Pfam:7TM_GPCR_Srsx	54	323	3.7e-8	PFAM
Pfam:7tm_1	60	309	2.1e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105035
AA Change: N289S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100652
Gene: ENSMUSG00000073768
AA Change: N289S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	307	6.4e-8	PFAM
Pfam:7tm_1	44	293	2.9e-31	PFAM
Pfam:7tm_4	142	286	6.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000219094
AA Change: N305S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.3954

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	T	12: 55,107,922 (GRCm39)	D92E	probably benign	Het
Abca17	A	G	17: 24,484,403 (GRCm39)	F1620L	probably damaging	Het
Abcf1	T	C	17: 36,268,933 (GRCm39)		probably benign	Het
Adtrp	T	C	13: 41,920,823 (GRCm39)	H248R	probably benign	Het
Aldh1b1	T	G	4: 45,803,472 (GRCm39)	F337V	probably damaging	Het
Amz2	C	T	11: 109,325,457 (GRCm39)	L272F	probably damaging	Het
Asic2	A	T	11: 81,859,009 (GRCm39)	M1K	probably null	Het
Avpr1a	T	A	10: 122,284,906 (GRCm39)	V66E	possibly damaging	Het
AW554918	C	A	18: 25,307,772 (GRCm39)	Y28*	probably null	Het
Cdc25b	C	T	2: 131,035,271 (GRCm39)	P343L	probably damaging	Het
Chd7	T	A	4: 8,822,445 (GRCm39)	I846K	probably damaging	Het
Dnajc13	A	T	9: 104,091,017 (GRCm39)	M688K	probably benign	Het
Dock2	T	A	11: 34,586,298 (GRCm39)	I505F	probably damaging	Het
Dpy19l4	A	G	4: 11,290,521 (GRCm39)	V290A	possibly damaging	Het
Dtl	G	T	1: 191,288,953 (GRCm39)	Q254K	possibly damaging	Het
Enpp2	T	G	15: 54,750,985 (GRCm39)	K265T	probably damaging	Het
Epm2aip1	TGTCGCCG	TG	9: 111,101,152 (GRCm39)		probably benign	Het
Fam133b	T	A	5: 3,593,949 (GRCm39)		probably null	Het
Fuom	A	G	7: 139,679,480 (GRCm39)		probably benign	Het
Fut9	T	C	4: 25,799,734 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,252,374 (GRCm39)	I171N	possibly damaging	Het
Gipc3	T	G	10: 81,177,129 (GRCm39)	D147A	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm5591	T	C	7: 38,218,572 (GRCm39)	K767R	probably damaging	Het
Kctd8	G	A	5: 69,498,544 (GRCm39)	P34L	possibly damaging	Het
Kmt2b	G	A	7: 30,282,627 (GRCm39)	R403C	probably damaging	Het
Krt84	A	T	15: 101,436,846 (GRCm39)	I396N	probably damaging	Het
Lrrk2	C	A	15: 91,573,104 (GRCm39)	F217L	probably damaging	Het
Med27	T	A	2: 29,414,447 (GRCm39)	D290E	probably damaging	Het
Mical3	T	C	6: 121,015,486 (GRCm39)	Q184R	probably benign	Het
Mlxip	A	T	5: 123,585,265 (GRCm39)	K591M	probably benign	Het
Mutyh	T	A	4: 116,674,069 (GRCm39)	L233H	probably damaging	Het
Naip6	G	T	13: 100,443,580 (GRCm39)	H253N	possibly damaging	Het
Nynrin	A	G	14: 56,091,852 (GRCm39)	E56G	probably damaging	Het
Oip5	C	T	2: 119,443,492 (GRCm39)		probably null	Het
Or10a4	T	A	7: 106,696,777 (GRCm39)	I35N	possibly damaging	Het
Or4c104	T	G	2: 88,586,356 (GRCm39)	H221P	possibly damaging	Het
Or4c15	T	C	2: 88,760,324 (GRCm39)	I112V	possibly damaging	Het
Or5p61	T	A	7: 107,758,445 (GRCm39)	I212F	probably benign	Het
Oxr1	T	C	15: 41,677,045 (GRCm39)	S132P	probably damaging	Het
Pcdhac1	C	T	18: 37,224,933 (GRCm39)	T582I	probably damaging	Het
Prl7a2	A	G	13: 27,844,858 (GRCm39)	I176T	probably damaging	Het
Rabgap1l	T	C	1: 160,169,734 (GRCm39)	T30A	possibly damaging	Het
Rapgef2	A	G	3: 78,976,480 (GRCm39)	M1294T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rnmt	T	A	18: 68,438,952 (GRCm39)	N20K	probably damaging	Het
Scn7a	T	A	2: 66,531,228 (GRCm39)	T550S	possibly damaging	Het
Shank1	T	A	7: 43,962,638 (GRCm39)	Y117*	probably null	Het
Skint5	T	A	4: 113,751,052 (GRCm39)	K331I	unknown	Het
Slc5a1	A	G	5: 33,304,055 (GRCm39)	Y290C	possibly damaging	Het
Slfn14	T	C	11: 83,174,244 (GRCm39)	E249G	probably benign	Het
Smarcal1	T	C	1: 72,650,496 (GRCm39)	S544P	probably damaging	Het
St6galnac3	A	T	3: 153,117,166 (GRCm39)	Y186N	probably damaging	Het
Tbc1d1	T	C	5: 64,420,900 (GRCm39)	F346S	probably damaging	Het
Tdrd5	A	T	1: 156,129,945 (GRCm39)	I75K	probably benign	Het
Tnrc6a	T	C	7: 122,791,313 (GRCm39)	M1737T	possibly damaging	Het
Toe1	A	T	4: 116,662,397 (GRCm39)	Y283N	probably damaging	Het
Tubal3	G	T	13: 3,978,185 (GRCm39)	G34C	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn1r212	T	C	13: 23,068,078 (GRCm39)	Y85C	probably damaging	Het
Yju2b	A	T	8: 84,985,439 (GRCm39)	C277S	probably benign	Het
Zdhhc4	A	G	5: 143,307,536 (GRCm39)	S162P	probably damaging	Het
Zfp712	A	G	13: 67,190,177 (GRCm39)	S117P	probably benign	Het
Zic4	G	T	9: 91,261,257 (GRCm39)	G164C	probably damaging	Het

Other mutations in Or10ak12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Or10ak12	APN	4	118,666,653 (GRCm39)	missense	probably damaging	0.98
IGL02481:Or10ak12	APN	4	118,666,696 (GRCm39)	missense	probably benign	0.01
IGL02483:Or10ak12	APN	4	118,666,696 (GRCm39)	missense	probably benign	0.01
R0058:Or10ak12	UTSW	4	118,666,677 (GRCm39)	missense	probably benign
R0069:Or10ak12	UTSW	4	118,666,887 (GRCm39)	missense	probably damaging	1.00
R0357:Or10ak12	UTSW	4	118,666,614 (GRCm39)	missense	probably damaging	1.00
R1274:Or10ak12	UTSW	4	118,666,593 (GRCm39)	missense	probably benign	0.01
R1432:Or10ak12	UTSW	4	118,666,435 (GRCm39)	missense	probably benign	0.00
R2305:Or10ak12	UTSW	4	118,666,058 (GRCm39)	missense	probably benign	0.35
R2368:Or10ak12	UTSW	4	118,667,019 (GRCm39)	missense	probably benign
R3842:Or10ak12	UTSW	4	118,666,452 (GRCm39)	missense	probably damaging	1.00
R3980:Or10ak12	UTSW	4	118,666,500 (GRCm39)	missense	probably benign	0.22
R5074:Or10ak12	UTSW	4	118,666,057 (GRCm39)	missense	possibly damaging	0.82
R5439:Or10ak12	UTSW	4	118,666,560 (GRCm39)	missense	possibly damaging	0.95
R5930:Or10ak12	UTSW	4	118,666,575 (GRCm39)	missense	probably benign	0.01
R6917:Or10ak12	UTSW	4	118,666,326 (GRCm39)	missense	probably damaging	1.00
R7287:Or10ak12	UTSW	4	118,666,939 (GRCm39)	missense	probably benign	0.01
R7525:Or10ak12	UTSW	4	118,666,691 (GRCm39)	missense	probably damaging	0.99
R7717:Or10ak12	UTSW	4	118,666,130 (GRCm39)	missense	probably damaging	0.99
R8293:Or10ak12	UTSW	4	118,666,939 (GRCm39)	missense	probably benign	0.01
R8765:Or10ak12	UTSW	4	118,666,159 (GRCm39)	missense	probably benign	0.05
R8877:Or10ak12	UTSW	4	118,666,482 (GRCm39)	missense	probably damaging	0.98
R9165:Or10ak12	UTSW	4	118,666,195 (GRCm39)	nonsense	probably null
R9689:Or10ak12	UTSW	4	118,666,999 (GRCm39)	missense	probably benign
X0023:Or10ak12	UTSW	4	118,666,818 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATAGGGGACTTTCGGGATAGAATG -3'
(R):5'- GGCAATTCTCAAGATTAAGTCCAC -3'

Sequencing Primer
(F):5'- GACTTTCGGGATAGAATGAAACG -3'
(R):5'- TTCTCAAGATTAAGTCCACCCAGGG -3'

Posted On

2015-10-21