Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Or10al6'

580878

Institutional Source

Beutler Lab

Gene Symbol

Or10al6

Ensembl Gene

ENSMUSG00000083947

Gene Name

olfactory receptor family 10 subfamily AL member 6

Synonyms

GA_x6K02T2PSCP-2230932-2231897, MOR263-10, Olfr122

MMRRC Submission

045566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38079533-38083511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38082571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 9 (Q9L)

Ref Sequence

ENSEMBL: ENSMUSP00000134283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119082] [ENSMUST00000172582] [ENSMUST00000217119]

AlphaFold

W4VSP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119082
AA Change: Q18L

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113170
Gene: ENSMUSG00000083947
AA Change: Q18L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	46	323	2.2e-58	PFAM
Pfam:7TM_GPCR_Srsx	50	320	2.7e-6	PFAM
Pfam:7tm_1	56	305	3.8e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172582
AA Change: Q9L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134283
Gene: ENSMUSG00000083947
AA Change: Q9L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	41	311	9.5e-8	PFAM
Pfam:7tm_1	47	296	7.8e-36	PFAM
Pfam:7tm_4	145	289	1e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217119
AA Change: Q9L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,560 (GRCm39)	D819G	possibly damaging	Het
Abca13	A	T	11: 9,243,167 (GRCm39)	I1677L	probably benign	Het
Ablim2	A	G	5: 35,998,673 (GRCm39)	S367G	probably benign	Het
Afdn	G	C	17: 14,068,638 (GRCm39)		probably null	Het
Aldh6a1	A	G	12: 84,483,640 (GRCm39)	L302P	probably damaging	Het
Ank3	A	G	10: 69,718,357 (GRCm39)	D536G	unknown	Het
Ankrd17	A	G	5: 90,381,807 (GRCm39)	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,601,656 (GRCm39)	E85K	possibly damaging	Het
Atmin	A	G	8: 117,683,657 (GRCm39)	D439G	probably damaging	Het
AU040320	G	T	4: 126,741,648 (GRCm39)	C952F	possibly damaging	Het
Btbd8	G	A	5: 107,658,373 (GRCm39)	E1648K	probably benign	Het
C6	A	G	15: 4,761,196 (GRCm39)	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009 (GRCm39)		probably null	Het
Cntn1	A	C	15: 92,212,423 (GRCm39)	T862P	probably benign	Het
Col5a1	T	C	2: 27,859,812 (GRCm39)		probably null	Het
D430041D05Rik	T	C	2: 104,031,650 (GRCm39)	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,819,846 (GRCm39)	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,240,737 (GRCm39)	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,844,660 (GRCm39)	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,419,398 (GRCm39)	I51F	probably benign	Het
Fbln1	G	A	15: 85,111,262 (GRCm39)	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,493,598 (GRCm39)		probably null	Het
Fech	C	T	18: 64,600,842 (GRCm39)	W220*	probably null	Het
Fgl1	C	T	8: 41,644,624 (GRCm39)	W293*	probably null	Het
Firrm	A	G	1: 163,786,897 (GRCm39)	I724T	probably benign	Het
Foxi2	T	C	7: 135,012,301 (GRCm39)	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237 (GRCm39)	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Galnt5	T	A	2: 57,916,048 (GRCm39)		probably null	Het
Glb1	A	T	9: 114,303,017 (GRCm39)	I618F	probably damaging	Het
Hs2st1	A	T	3: 144,141,357 (GRCm39)	M237K	probably benign	Het
Ighm	T	C	12: 113,386,293 (GRCm39)	D19G		Het
Il1f10	A	G	2: 24,182,829 (GRCm39)	D35G	probably benign	Het
Itpr2	G	A	6: 146,292,436 (GRCm39)	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,420,542 (GRCm39)	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,681,065 (GRCm39)	D991G	probably benign	Het
Klhl18	A	C	9: 110,257,843 (GRCm39)	Y532*	probably null	Het
Lama1	T	C	17: 68,124,646 (GRCm39)	F2902S		Het
Lrba	T	C	3: 86,571,835 (GRCm39)	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,367,925 (GRCm39)	I196F	probably damaging	Het
Macf1	T	C	4: 123,369,524 (GRCm39)	K1746E	possibly damaging	Het
Megf10	T	C	18: 57,424,866 (GRCm39)	Y1002H	probably benign	Het
Megf8	A	G	7: 25,053,273 (GRCm39)	T1815A	probably benign	Het
Mtg1	T	C	7: 139,724,610 (GRCm39)	L162P	probably damaging	Het
Myo6	T	A	9: 80,195,328 (GRCm39)	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,257,081 (GRCm39)	D233V	probably damaging	Het
Or2z2	T	A	11: 58,346,715 (GRCm39)	N20I	probably benign	Het
Or4k45	C	A	2: 111,395,166 (GRCm39)	V208L	probably benign	Het
Or6c201	T	A	10: 128,969,509 (GRCm39)	I43F	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,063 (GRCm39)	N284I	unknown	Het
Parvb	A	T	15: 84,174,651 (GRCm39)	Q148L	probably damaging	Het
Pcdhb11	C	T	18: 37,556,497 (GRCm39)	T609M	probably damaging	Het
Pcdhga3	A	T	18: 37,809,178 (GRCm39)	T544S	probably benign	Het
Pkd1	C	G	17: 24,788,715 (GRCm39)	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,794,849 (GRCm39)	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,093,684 (GRCm39)	E166*	probably null	Het
Pnpt1	A	G	11: 29,085,522 (GRCm39)	I138V	probably benign	Het
Pou4f3	T	C	18: 42,528,996 (GRCm39)	L313P	probably damaging	Het
Pramel21	C	A	4: 143,342,744 (GRCm39)	Q284K	not run	Het
Prep	A	G	10: 44,996,910 (GRCm39)	Y396C	probably damaging	Het
Prkd3	A	T	17: 79,269,974 (GRCm39)	C562*	probably null	Het
Prss12	T	A	3: 123,276,425 (GRCm39)	C351*	probably null	Het
Rnf41	C	A	10: 128,274,283 (GRCm39)	H312N	probably damaging	Het
Ror1	C	T	4: 100,298,256 (GRCm39)	T543I	probably benign	Het
Rreb1	G	A	13: 38,115,724 (GRCm39)	V1028I	probably benign	Het
Setd2	T	A	9: 110,423,700 (GRCm39)	S474T		Het
Slc1a2	T	A	2: 102,570,275 (GRCm39)	C184*	probably null	Het
Slc2a4	G	A	11: 69,837,202 (GRCm39)	T78I	probably benign	Het
Slc4a4	T	A	5: 89,277,509 (GRCm39)	I317N	possibly damaging	Het
Smad9	G	A	3: 54,693,747 (GRCm39)		probably null	Het
Sst	T	C	16: 23,708,576 (GRCm39)	E85G	probably damaging	Het
Sting1	T	C	18: 35,871,766 (GRCm39)	Y162C	probably damaging	Het
Svep1	T	G	4: 58,066,468 (GRCm39)	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,141,189 (GRCm39)	S647R	probably benign	Het
Trnt1	T	C	6: 106,751,493 (GRCm39)	S157P	possibly damaging	Het
Ttc6	A	T	12: 57,719,922 (GRCm39)	H831L	probably benign	Het
Vmn1r121	A	G	7: 20,832,095 (GRCm39)	F115S	probably damaging	Het
Vwa7	A	G	17: 35,238,020 (GRCm39)	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,980 (GRCm39)	K300N	probably null	Het
Zfp418	A	G	7: 7,184,396 (GRCm39)	T120A	possibly damaging	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	Het

Other mutations in Or10al6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Or10al6	APN	17	38,083,505 (GRCm39)	missense	probably benign	0.00
IGL01338:Or10al6	APN	17	38,082,730 (GRCm39)	missense	possibly damaging	0.90
IGL01447:Or10al6	APN	17	38,083,122 (GRCm39)	missense	probably damaging	1.00
PIT4514001:Or10al6	UTSW	17	38,082,758 (GRCm39)	missense	probably damaging	1.00
R0402:Or10al6	UTSW	17	38,083,284 (GRCm39)	missense	probably damaging	1.00
R0830:Or10al6	UTSW	17	38,082,804 (GRCm39)	missense	probably damaging	0.99
R2018:Or10al6	UTSW	17	38,083,467 (GRCm39)	missense	probably benign	0.00
R4258:Or10al6	UTSW	17	38,082,949 (GRCm39)	missense	probably damaging	1.00
R6371:Or10al6	UTSW	17	38,083,326 (GRCm39)	missense	probably benign
R6481:Or10al6	UTSW	17	38,083,194 (GRCm39)	missense	probably damaging	1.00
R7468:Or10al6	UTSW	17	38,082,910 (GRCm39)	missense	probably damaging	1.00
R8114:Or10al6	UTSW	17	38,082,880 (GRCm39)	missense	possibly damaging	0.67
R8172:Or10al6	UTSW	17	38,083,326 (GRCm39)	missense	probably benign
R8728:Or10al6	UTSW	17	38,082,642 (GRCm39)	missense	probably damaging	1.00
R8894:Or10al6	UTSW	17	38,082,940 (GRCm39)	missense	probably damaging	1.00
R9659:Or10al6	UTSW	17	38,082,880 (GRCm39)	missense	probably damaging	0.99
Z1177:Or10al6	UTSW	17	38,083,082 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CATTTAGCGGTTTGACAACTAAGTG -3'
(R):5'- TCCAGGAGAGACAAATTGGCC -3'

Sequencing Primer
(F):5'- AGAAGGTGGATCTCTGACTCATCC -3'
(R):5'- TTGGCCAGAAAGAAGTACATTGG -3'

Posted On

2019-10-17