Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Or10ak12'

311237

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

040843-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R3980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118666052-118667059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118666500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 187 (Y187F)

Ref Sequence

ENSEMBL: ENSMUSP00000151219 (fasta)

Gene Model

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

AlphaFold

B2RVY8

Predicted Effect

probably benign
Transcript: ENSMUST00000084313
AA Change: Y171F

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000081339
Gene: ENSMUSG00000066061
AA Change: Y171F

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 benign
Transcript: ENSMUST00000105035
AA Change: Y171F

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100652
Gene: ENSMUSG00000073768
AA Change: Y171F

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 benign
Transcript: ENSMUST00000219094
AA Change: Y187F

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,454,792 (GRCm39)	G268R	probably damaging	Het
Amacr	T	A	15: 10,989,015 (GRCm39)	Y240*	probably null	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,023,089 (GRCm39)	C106F	probably damaging	Het
Bean1	A	T	8: 104,937,730 (GRCm39)	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,608,441 (GRCm39)	N41I	probably benign	Het
Ceacam16	A	G	7: 19,592,558 (GRCm39)	F117L	probably benign	Het
Col4a1	T	C	8: 11,289,155 (GRCm39)		probably benign	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,956,056 (GRCm39)	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,589 (GRCm39)	H399Q	probably benign	Het
Cutal	T	C	2: 34,772,325 (GRCm39)	Y30H	possibly damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Defb30	C	A	14: 63,273,421 (GRCm39)	C64F	probably damaging	Het
Eif2a	T	C	3: 58,446,960 (GRCm39)	I45T	probably benign	Het
Esyt1	T	A	10: 128,347,393 (GRCm39)	D1044V	probably damaging	Het
Gabpb2	A	T	3: 95,096,081 (GRCm39)	V382E	probably damaging	Het
Glb1	T	A	9: 114,246,132 (GRCm39)	I61K	probably damaging	Het
Insyn2b	G	A	11: 34,352,678 (GRCm39)	C240Y	probably benign	Het
Kcnt1	T	C	2: 25,783,226 (GRCm39)	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,547,408 (GRCm39)	D1019G	probably benign	Het
Klhl2	A	T	8: 65,196,109 (GRCm39)	L545M	probably damaging	Het
Klhl2	C	A	8: 65,196,115 (GRCm39)	G543C	probably damaging	Het
Krt31	G	T	11: 99,939,030 (GRCm39)	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,864,091 (GRCm39)	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,501,855 (GRCm39)	F859L	probably damaging	Het
Map7	C	A	10: 20,143,099 (GRCm39)	T416K	unknown	Het
Med18	T	A	4: 132,190,251 (GRCm39)	I45F	probably benign	Het
Mn1	A	T	5: 111,569,636 (GRCm39)	H1202L	possibly damaging	Het
Mpp7	T	C	18: 7,444,062 (GRCm39)	D120G	probably benign	Het
Nlrp1b	A	T	11: 71,072,437 (GRCm39)	F469I	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Nrap	G	A	19: 56,369,984 (GRCm39)	A206V	probably benign	Het
Nuggc	T	C	14: 65,856,542 (GRCm39)		probably null	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or51a25	T	C	7: 102,372,959 (GRCm39)	N246S	probably damaging	Het
Parp3	T	C	9: 106,351,267 (GRCm39)	D278G	probably damaging	Het
Phc3	T	A	3: 30,991,080 (GRCm39)	Q346L	probably damaging	Het
Pigo	A	G	4: 43,019,231 (GRCm39)	L1029P	probably damaging	Het
Plcb3	A	G	19: 6,943,803 (GRCm39)	I66T	probably damaging	Het
Plch2	T	C	4: 155,069,255 (GRCm39)	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,350,146 (GRCm39)	C264F	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pou4f2	G	T	8: 79,162,067 (GRCm39)	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,108,231 (GRCm39)		probably benign	Het
Rapgef1	G	A	2: 29,609,662 (GRCm39)	V700I	probably benign	Het
Rdh14	A	G	12: 10,444,703 (GRCm39)	I185V	probably benign	Het
Rnf111	A	T	9: 70,349,607 (GRCm39)	H785Q	probably damaging	Het
Rttn	C	T	18: 89,035,399 (GRCm39)	R758W	probably benign	Het
Sik3	G	A	9: 46,113,361 (GRCm39)	V601M	probably damaging	Het
Slc22a14	T	C	9: 119,007,552 (GRCm39)	T286A	probably benign	Het
Slc36a3	G	A	11: 55,026,209 (GRCm39)	T203I	probably benign	Het
Spata31	A	T	13: 65,070,468 (GRCm39)	Q872L	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Sphkap	A	T	1: 83,245,215 (GRCm39)		probably null	Het
Stat6	T	C	10: 127,491,248 (GRCm39)	V463A	probably damaging	Het
Stx7	T	C	10: 24,060,947 (GRCm39)	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,207,334 (GRCm39)		probably benign	Het
Tada2a	A	T	11: 83,993,946 (GRCm39)	F179L	probably benign	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tfap2d	A	G	1: 19,236,187 (GRCm39)	I382V	possibly damaging	Het
Tshr	C	A	12: 91,504,517 (GRCm39)	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,530,698 (GRCm39)	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,962,636 (GRCm39)	T104A	probably damaging	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	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
R4722:Or10ak12	UTSW	4	118,666,146 (GRCm39)	missense	probably damaging	0.99
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'- GTAGAGAAAGCCTTGCAGCG -3'
(R):5'- TGGGTATGACAGAGAGCATCC -3'

Sequencing Primer
(F):5'- AATCTTGAGAATTGCCTTGGC -3'
(R):5'- AGAGCATCCTCTTTGTTGTCATG -3'

Posted On

2015-04-29