Mutagenetix > Incidental Mutation

Incidental Mutation 'R9624:Or6c33'

725041

Institutional Source

Beutler Lab

Gene Symbol

Or6c33

Ensembl Gene

ENSMUSG00000048745

Gene Name

olfactory receptor family 6 subfamily C member 33

Synonyms

GA_x6K02T2PULF-11688441-11689379, Olfr820, MOR116-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9624 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129853232-129854170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129853866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 212 (V212A)

Ref Sequence

ENSEMBL: ENSMUSP00000150464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059244] [ENSMUST00000214917] [ENSMUST00000215791]

AlphaFold

Q8VFU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059244
AA Change: V212A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052995
Gene: ENSMUSG00000048745
AA Change: V212A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1e-47	PFAM
Pfam:7tm_1	39	288	1.8e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214917
AA Change: V212A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215791
AA Change: V212A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,509,070 (GRCm39)	N481I	probably damaging	Het
Ahnak	T	A	19: 8,989,846 (GRCm39)	L3710Q	unknown	Het
Anapc15-ps	T	C	10: 95,508,965 (GRCm39)	D105G	probably benign	Het
Ankfn1	T	C	11: 89,414,033 (GRCm39)	N114S	probably benign	Het
Ankrd27	A	T	7: 35,301,891 (GRCm39)	T137S	possibly damaging	Het
Atp1b3	A	G	9: 96,222,293 (GRCm39)	S165P	probably benign	Het
Atxn7l3	T	C	11: 102,182,852 (GRCm39)	D256G	probably benign	Het
B430305J03Rik	C	A	3: 61,271,408 (GRCm39)	L112F	unknown	Het
Bub1	A	T	2: 127,646,766 (GRCm39)	I838K	probably damaging	Het
C3	T	A	17: 57,527,189 (GRCm39)	E753D	probably benign	Het
Cacnb4	T	C	2: 52,364,942 (GRCm39)	D107G	probably benign	Het
Cenpj	A	T	14: 56,802,387 (GRCm39)	H59Q	probably benign	Het
Cxxc1	A	T	18: 74,352,512 (GRCm39)	H364L	possibly damaging	Het
Dapk1	T	C	13: 60,895,937 (GRCm39)	I675T	probably benign	Het
Eln	A	G	5: 134,738,991 (GRCm39)	S663P	unknown	Het
Epha8	G	T	4: 136,659,065 (GRCm39)	P863Q	probably damaging	Het
Erich6	G	T	3: 58,536,766 (GRCm39)	T278N	possibly damaging	Het
Fam47e	G	C	5: 92,726,395 (GRCm39)	R111P	probably benign	Het
Fam83g	C	T	11: 61,575,328 (GRCm39)		probably benign	Het
Fanci	A	T	7: 79,085,117 (GRCm39)	I848L	probably benign	Het
Foxj3	T	A	4: 119,483,589 (GRCm39)	D620E	unknown	Het
Gm14443	T	A	2: 175,012,129 (GRCm39)	N106Y	possibly damaging	Het
Gm17654	T	C	14: 43,815,492 (GRCm39)	D105G		Het
Gps1	C	A	11: 120,677,434 (GRCm39)	A216D	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,110 (GRCm39)	K339R	probably benign	Het
Ikzf1	A	G	11: 11,719,219 (GRCm39)	T396A	probably damaging	Het
Lratd2	A	T	15: 60,694,993 (GRCm39)	I251N	probably damaging	Het
Lrrc9	A	G	12: 72,497,586 (GRCm39)	I135V	probably benign	Het
Mylk	C	A	16: 34,699,677 (GRCm39)	Q347K	probably benign	Het
Myo1e	A	G	9: 70,303,156 (GRCm39)	Y1059C	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or10d1b	A	G	9: 39,613,822 (GRCm39)	F81S	probably benign	Het
Or10j3	A	T	1: 173,031,672 (GRCm39)	I250F	probably benign	Het
Or2y1	T	A	11: 49,385,834 (GRCm39)	I158N	possibly damaging	Het
Or8g23	T	A	9: 38,971,453 (GRCm39)	N170Y	probably benign	Het
Or8g30	G	T	9: 39,230,848 (GRCm39)	Q21K	probably benign	Het
Piezo2	G	A	18: 63,197,767 (GRCm39)	P1590S	possibly damaging	Het
Prl7a2	T	A	13: 27,849,869 (GRCm39)	K68*	probably null	Het
Prss33	A	G	17: 24,054,656 (GRCm39)	V14A	probably benign	Het
Rad17	T	C	13: 100,773,503 (GRCm39)	N162S	probably damaging	Het
Sbf2	A	T	7: 109,963,857 (GRCm39)	V1042E	probably damaging	Het
Scn1a	A	T	2: 66,153,766 (GRCm39)	M689K	probably benign	Het
Senp7	A	T	16: 55,990,075 (GRCm39)	I608F	probably damaging	Het
Sh2b1	AGCTCAGCCACGGGGAC	AGCTCAGCCACGGGGACACGCTCAGCCACGGGGAC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc38a3	A	G	9: 107,532,510 (GRCm39)	V370A	probably damaging	Het
Sorbs2	A	G	8: 46,228,690 (GRCm39)	I307V	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Spindoc	G	A	19: 7,352,197 (GRCm39)	T50M	probably benign	Het
Sppl2b	T	A	10: 80,699,373 (GRCm39)	F269Y	probably benign	Het
Stab1	C	T	14: 30,863,345 (GRCm39)	V2114M		Het
Tcerg1l	A	G	7: 137,995,923 (GRCm39)	V195A	possibly damaging	Het
Tent4a	A	T	13: 69,651,787 (GRCm39)	W545R	probably damaging	Het
Tmem128	G	T	5: 38,422,236 (GRCm39)	R105L	possibly damaging	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Vmn1r194	T	A	13: 22,428,671 (GRCm39)	I96N	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r78	G	A	7: 11,886,410 (GRCm39)	S7N	probably benign	Het
Wapl	T	A	14: 34,414,063 (GRCm39)	N308K	possibly damaging	Het

Other mutations in Or6c33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Or6c33	APN	10	129,853,710 (GRCm39)	missense	probably damaging	0.98
IGL01938:Or6c33	APN	10	129,853,981 (GRCm39)	nonsense	probably null
IGL02369:Or6c33	APN	10	129,853,425 (GRCm39)	missense	possibly damaging	0.81
R0378:Or6c33	UTSW	10	129,853,872 (GRCm39)	missense	probably damaging	1.00
R0437:Or6c33	UTSW	10	129,853,965 (GRCm39)	missense	probably damaging	1.00
R0648:Or6c33	UTSW	10	129,853,350 (GRCm39)	missense	probably damaging	1.00
R1891:Or6c33	UTSW	10	129,853,439 (GRCm39)	missense	probably damaging	1.00
R2187:Or6c33	UTSW	10	129,853,557 (GRCm39)	missense	probably damaging	1.00
R4190:Or6c33	UTSW	10	129,853,847 (GRCm39)	missense	probably damaging	0.96
R4730:Or6c33	UTSW	10	129,853,416 (GRCm39)	missense	probably damaging	1.00
R6380:Or6c33	UTSW	10	129,853,782 (GRCm39)	missense	probably benign	0.18
R6496:Or6c33	UTSW	10	129,853,448 (GRCm39)	missense	probably benign	0.13
R7198:Or6c33	UTSW	10	129,853,760 (GRCm39)	missense	probably damaging	1.00
R7667:Or6c33	UTSW	10	129,853,403 (GRCm39)	missense	probably damaging	1.00
R7762:Or6c33	UTSW	10	129,853,050 (GRCm39)	intron	probably benign
R7823:Or6c33	UTSW	10	129,854,136 (GRCm39)	missense	probably benign	0.00
R8472:Or6c33	UTSW	10	129,853,445 (GRCm39)	missense	probably damaging	1.00
R8931:Or6c33	UTSW	10	129,853,769 (GRCm39)	missense	possibly damaging	0.81
R9536:Or6c33	UTSW	10	129,853,345 (GRCm39)	missense	probably benign	0.01
R9563:Or6c33	UTSW	10	129,853,287 (GRCm39)	missense	probably benign
R9564:Or6c33	UTSW	10	129,853,287 (GRCm39)	missense	probably benign
R9565:Or6c33	UTSW	10	129,853,287 (GRCm39)	missense	probably benign
R9630:Or6c33	UTSW	10	129,853,410 (GRCm39)	missense	probably damaging	1.00
R9652:Or6c33	UTSW	10	129,853,809 (GRCm39)	missense	possibly damaging	0.95
Z1177:Or6c33	UTSW	10	129,853,854 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTTGCTGTGCCACATGC -3'
(R):5'- TGAATGGGTTTAACAGAGGTGC -3'

Sequencing Primer
(F):5'- ACATGCAATGACTCTTCAGTTGC -3'
(R):5'- GCAACAGAGGTATTTAAAACAGCTAC -3'

Posted On

2022-09-12