Mutagenetix > Incidental Mutation

Incidental Mutation 'R8847:Or10ak11'

674743

Institutional Source

Beutler Lab

Gene Symbol

Or10ak11

Ensembl Gene

ENSMUSG00000110947

Gene Name

olfactory receptor family 10 subfamily AK member 11

Synonyms

Olfr1333, MOR259-6, MOR259-11, GA_x6K02T2QD9B-18703033-18703986

MMRRC Submission

068735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118686682-118687635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118686821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 271 (D271G)

Ref Sequence

ENSEMBL: ENSMUSP00000154759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076019] [ENSMUST00000214477]

AlphaFold

Q7TQV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076019
AA Change: D272G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075398
Gene: ENSMUSG00000110947
AA Change: D272G

Domain	Start	End	E-Value	Type
Pfam:7tm_1	42	291	4.1e-31	PFAM
Pfam:7tm_4	140	284	2.9e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214477
AA Change: D271G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214477
AA Change: D271G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 41,206,746 (GRCm39)	R4T	probably benign	Het
Alk	T	A	17: 72,256,820 (GRCm39)	I680F	probably benign	Het
Best3	A	G	10: 116,824,572 (GRCm39)	T13A	possibly damaging	Het
Ccdc7b	A	G	8: 129,872,082 (GRCm39)	D59G		Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cic	G	A	7: 24,970,631 (GRCm39)	V121M	probably damaging	Het
Clasp1	C	G	1: 118,506,705 (GRCm39)	P1280R	probably damaging	Het
Col6a5	A	T	9: 105,741,472 (GRCm39)	N2482K	possibly damaging	Het
Crebbp	A	G	16: 3,902,891 (GRCm39)	M2116T	probably benign	Het
Ddn	T	C	15: 98,704,794 (GRCm39)	E166G	possibly damaging	Het
Dennd6a	C	T	14: 26,327,086 (GRCm39)	T249I	probably benign	Het
Diaph1	A	T	18: 37,987,590 (GRCm39)	D1055E	possibly damaging	Het
Dnajc13	C	A	9: 104,057,360 (GRCm39)	G1547*	probably null	Het
Dvl1	C	T	4: 155,942,611 (GRCm39)	R626C	possibly damaging	Het
Fer1l6	A	C	15: 58,414,012 (GRCm39)	K13Q	possibly damaging	Het
Fry	G	A	5: 150,309,472 (GRCm39)	E639K		Het
Gm6408	G	T	5: 146,420,602 (GRCm39)	V161L	probably benign	Het
Gpatch8	A	T	11: 102,372,010 (GRCm39)	N509K	unknown	Het
Hycc2	G	T	1: 58,595,713 (GRCm39)	P55Q	probably damaging	Het
Ints13	T	C	6: 146,457,631 (GRCm39)	T416A	probably benign	Het
Iqcf6	A	T	9: 106,504,650 (GRCm39)	M105L	probably damaging	Het
Magi3	C	A	3: 103,922,334 (GRCm39)	R1461L	probably benign	Het
Map3k8	A	T	18: 4,333,889 (GRCm39)	L401Q		Het
Miga2	G	T	2: 30,273,990 (GRCm39)	R542L	probably damaging	Het
Mphosph9	A	T	5: 124,454,209 (GRCm39)	V96E	possibly damaging	Het
Nek5	T	C	8: 22,613,595 (GRCm39)	S28G	probably benign	Het
Niban1	A	G	1: 151,575,929 (GRCm39)	E351G	probably damaging	Het
Notch4	A	G	17: 34,803,962 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,323,987 (GRCm39)	L1275P	probably damaging	Het
Nphp4	C	T	4: 152,590,863 (GRCm39)	R287C	probably damaging	Het
Or13a20	G	C	7: 140,232,326 (GRCm39)	A145P	possibly damaging	Het
Or1j13	G	A	2: 36,369,483 (GRCm39)	R220*	probably null	Het
Or1p1c	C	T	11: 74,160,443 (GRCm39)	T76I	probably damaging	Het
Parn	A	T	16: 13,446,270 (GRCm39)	L343*	probably null	Het
Pax5	T	A	4: 44,691,865 (GRCm39)	D127V	probably benign	Het
Peak1	C	A	9: 56,114,427 (GRCm39)	D1505Y	probably damaging	Het
Perm1	C	T	4: 156,302,068 (GRCm39)	T204I	probably benign	Het
Pid1	A	T	1: 84,093,694 (GRCm39)	S65T	unknown	Het
Pkn2	A	G	3: 142,526,401 (GRCm39)	V392A	probably benign	Het
Plekhh2	A	G	17: 84,878,479 (GRCm39)	D578G	probably benign	Het
Ppp4r4	T	A	12: 103,562,747 (GRCm39)	L572Q	probably damaging	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rasa2	A	G	9: 96,458,402 (GRCm39)	V266A	possibly damaging	Het
Sirpb1c	C	T	3: 15,886,584 (GRCm39)	W264*	probably null	Het
Slc35g3	A	T	11: 69,651,399 (GRCm39)	Y195*	probably null	Het
Slk	T	A	19: 47,607,632 (GRCm39)	H289Q		Het
Spef2	T	C	15: 9,668,913 (GRCm39)	S758G	probably benign	Het
Spon2	C	T	5: 33,371,841 (GRCm39)	A322T	probably benign	Het
Spred2	T	C	11: 19,951,064 (GRCm39)	L87P	probably benign	Het
Stk10	A	G	11: 32,539,427 (GRCm39)	D269G		Het
Tex48	T	A	4: 63,530,772 (GRCm39)		probably benign	Het
Themis2	T	A	4: 132,513,509 (GRCm39)	H239L	probably damaging	Het
Tle4	T	A	19: 14,493,737 (GRCm39)	R199*	probably null	Het
Tlr11	C	T	14: 50,600,182 (GRCm39)	H723Y	possibly damaging	Het
Trdj2	T	A	14: 54,374,237 (GRCm39)	S1T		Het
Vdac1	T	G	11: 52,267,230 (GRCm39)	S44A		Het
Vill	C	T	9: 118,897,514 (GRCm39)	T647I	probably damaging	Het
Vmn1r61	A	G	7: 5,613,817 (GRCm39)	C166R	probably damaging	Het
Vmn2r114	T	A	17: 23,528,986 (GRCm39)	N372I	probably damaging	Het
Vmn2r120	T	A	17: 57,816,217 (GRCm39)	M713L	probably benign	Het
Vmn2r61	T	C	7: 41,950,010 (GRCm39)	V810A	probably damaging	Het
Vmn2r65	A	T	7: 84,590,212 (GRCm39)	L568Q	probably damaging	Het
Wdr7	T	C	18: 63,872,293 (GRCm39)	V409A	probably damaging	Het
Ylpm1	C	A	12: 85,061,672 (GRCm39)	N524K	unknown	Het
Zfp958	A	C	8: 4,678,434 (GRCm39)	H153P	probably damaging	Het

Other mutations in Or10ak11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Or10ak11	APN	4	118,686,989 (GRCm39)	missense	probably benign	0.30
IGL03023:Or10ak11	APN	4	118,687,449 (GRCm39)	missense	probably damaging	0.99
IGL03387:Or10ak11	APN	4	118,687,238 (GRCm39)	missense	probably damaging	1.00
R0326:Or10ak11	UTSW	4	118,687,022 (GRCm39)	missense	possibly damaging	0.90
R0532:Or10ak11	UTSW	4	118,686,897 (GRCm39)	missense	probably damaging	1.00
R1775:Or10ak11	UTSW	4	118,687,065 (GRCm39)	missense	probably benign	0.00
R1906:Or10ak11	UTSW	4	118,687,467 (GRCm39)	missense	probably damaging	1.00
R1946:Or10ak11	UTSW	4	118,687,223 (GRCm39)	missense	probably benign	0.00
R2260:Or10ak11	UTSW	4	118,687,359 (GRCm39)	missense	probably damaging	1.00
R5084:Or10ak11	UTSW	4	118,686,767 (GRCm39)	missense	probably damaging	1.00
R5337:Or10ak11	UTSW	4	118,686,863 (GRCm39)	missense	probably benign	0.44
R5444:Or10ak11	UTSW	4	118,687,308 (GRCm39)	missense	probably benign
R5817:Or10ak11	UTSW	4	118,687,296 (GRCm39)	missense	probably damaging	0.96
R5973:Or10ak11	UTSW	4	118,687,413 (GRCm39)	missense	probably benign	0.22
R5987:Or10ak11	UTSW	4	118,687,478 (GRCm39)	missense	probably damaging	0.96
R6031:Or10ak11	UTSW	4	118,687,588 (GRCm39)	splice site	probably null
R6031:Or10ak11	UTSW	4	118,687,588 (GRCm39)	splice site	probably null
R7255:Or10ak11	UTSW	4	118,687,149 (GRCm39)	missense	probably benign	0.17
R7483:Or10ak11	UTSW	4	118,687,517 (GRCm39)	missense	probably damaging	0.98
R8214:Or10ak11	UTSW	4	118,687,288 (GRCm39)	missense	probably benign
R8479:Or10ak11	UTSW	4	118,687,212 (GRCm39)	missense	probably damaging	1.00
R9661:Or10ak11	UTSW	4	118,687,526 (GRCm39)	missense	probably benign	0.45
Z1176:Or10ak11	UTSW	4	118,687,247 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCATGCTGTCTTTCAGGAATG -3'
(R):5'- GTGGCCTCCTACATTCGTATTG -3'

Sequencing Primer
(F):5'- GCACTGTTTCAGTATTAGGCAAAG -3'
(R):5'- GCCATGGCAATTCTCAAGATC -3'

Posted On

2021-07-15