Mutagenetix > Incidental Mutation

Incidental Mutation 'R5944:Or7a41'

460484

Institutional Source

Beutler Lab

Gene Symbol

Or7a41

Ensembl Gene

ENSMUSG00000060205

Gene Name

olfactory receptor family 7 subfamily A member 41

Synonyms

MOR139-3, Olfr57, GA_x6K02T2QGN0-2777431-2776472, IF12

MMRRC Submission

044136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78870557-78871636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78871223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 198 (M198L)

Ref Sequence

ENSEMBL: ENSMUSP00000144814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082244] [ENSMUST00000203906]

AlphaFold

Q8VGU7

Predicted Effect

probably benign
Transcript: ENSMUST00000082244
AA Change: M198L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080872
Gene: ENSMUSG00000060205
AA Change: M198L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.2e-49	PFAM
Pfam:7tm_1	42	291	6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203906
AA Change: M198L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144814
Gene: ENSMUSG00000060205
AA Change: M198L

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Pfam:7tm_4	32	308	2e-49	PFAM
Pfam:7tm_1	42	291	1.9e-23	PFAM

Meta Mutation Damage Score

0.0949

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

86% (51/59)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	T	5: 114,384,041 (GRCm39)	R2190L	probably damaging	Het
Ankrd17	C	T	5: 90,433,702 (GRCm39)	R689H	probably damaging	Het
Apol7b	A	T	15: 77,307,967 (GRCm39)	V176E	probably damaging	Het
Arsg	T	C	11: 109,426,137 (GRCm39)	F319S	probably damaging	Het
Bcar3	T	A	3: 122,316,932 (GRCm39)	D634E	probably benign	Het
Bend7	T	C	2: 4,749,167 (GRCm39)	W95R	probably damaging	Het
Cenpj	A	G	14: 56,791,115 (GRCm39)		probably null	Het
Cfap91	G	T	16: 38,148,672 (GRCm39)	T252N	probably damaging	Het
Clasrp	A	T	7: 19,328,431 (GRCm39)	Y116N	probably damaging	Het
Cldn17	T	C	16: 88,303,597 (GRCm39)	E44G	probably damaging	Het
Cyfip1	G	A	7: 55,521,878 (GRCm39)	E61K	probably damaging	Het
Dcaf13	A	C	15: 39,010,072 (GRCm39)	M419L	probably benign	Het
Eml4	A	G	17: 83,753,472 (GRCm39)	D269G	possibly damaging	Het
Fap	T	C	2: 62,372,605 (GRCm39)	Y258C	probably damaging	Het
Fdxr	T	A	11: 115,160,672 (GRCm39)	T288S	probably benign	Het
Frs3	T	C	17: 48,003,233 (GRCm39)		probably benign	Het
Gm5581	T	A	6: 131,145,363 (GRCm39)		noncoding transcript	Het
Gm7964	A	G	7: 83,405,743 (GRCm39)	D187G	probably benign	Het
Gpc5	T	C	14: 115,607,250 (GRCm39)	V284A	probably benign	Het
Hspa9	T	C	18: 35,082,076 (GRCm39)	T177A	possibly damaging	Het
Ifi202b	T	A	1: 173,791,365 (GRCm39)	M438L	probably benign	Het
Ighv1-3	T	C	12: 114,445,239 (GRCm39)		probably benign	Het
Krt36	G	T	11: 99,996,139 (GRCm39)	A95E	probably benign	Het
Krt9	C	T	11: 100,079,265 (GRCm39)	S709N	unknown	Het
Lmntd1	A	T	6: 145,373,042 (GRCm39)	S164T	probably damaging	Het
Or14c41	T	A	7: 86,234,486 (GRCm39)	M1K	probably null	Het
Or2ag1b	A	T	7: 106,288,853 (GRCm39)	C28*	probably null	Het
Or52n4b	G	A	7: 108,144,484 (GRCm39)	A249T	possibly damaging	Het
Or5b94	C	T	19: 12,652,283 (GRCm39)	T238I	probably damaging	Het
Papola	T	A	12: 105,778,644 (GRCm39)	F341I	possibly damaging	Het
Phf3	A	G	1: 30,859,785 (GRCm39)	L914P	probably damaging	Het
Sec24d	T	C	3: 123,087,230 (GRCm39)	V132A	probably benign	Het
Serpini1	G	A	3: 75,547,606 (GRCm39)	D373N	probably damaging	Het
Sigirr	T	C	7: 140,671,300 (GRCm39)	Y394C	probably damaging	Het
Slc29a4	G	A	5: 142,704,573 (GRCm39)	E372K	probably damaging	Het
Slc7a4	C	T	16: 17,392,220 (GRCm39)	V405I	possibly damaging	Het
Spatc1	T	C	15: 76,168,138 (GRCm39)	L199P	probably damaging	Het
Srgap3	T	C	6: 112,772,775 (GRCm39)	M149V	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stat3	C	T	11: 100,785,931 (GRCm39)	A449T	probably damaging	Het
Stat4	A	G	1: 52,113,898 (GRCm39)	N203D	probably damaging	Het
Tanc1	T	C	2: 59,667,564 (GRCm39)		probably null	Het
Trav3-1	T	C	14: 52,818,449 (GRCm39)	I41T	probably benign	Het
Usp34	T	A	11: 23,313,089 (GRCm39)	D525E	probably damaging	Het
Vars1	T	C	17: 35,232,620 (GRCm39)	V848A	probably damaging	Het
Vmn2r101	A	T	17: 19,809,769 (GRCm39)	D185V	probably benign	Het
Wiz	A	G	17: 32,576,671 (GRCm39)	S628P	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Or7a41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Or7a41	APN	10	78,871,445 (GRCm39)	missense	probably benign	0.05
IGL02230:Or7a41	APN	10	78,870,876 (GRCm39)	missense	probably damaging	0.99
IGL02283:Or7a41	APN	10	78,871,379 (GRCm39)	missense	probably damaging	1.00
IGL02878:Or7a41	APN	10	78,871,392 (GRCm39)	missense	probably benign	0.23
IGL02975:Or7a41	APN	10	78,870,867 (GRCm39)	missense	possibly damaging	0.83
IGL03259:Or7a41	APN	10	78,871,234 (GRCm39)	nonsense	probably null
R1366:Or7a41	UTSW	10	78,870,876 (GRCm39)	missense	probably damaging	1.00
R1438:Or7a41	UTSW	10	78,871,122 (GRCm39)	missense	possibly damaging	0.88
R1528:Or7a41	UTSW	10	78,871,398 (GRCm39)	missense	probably damaging	0.96
R1601:Or7a41	UTSW	10	78,871,338 (GRCm39)	missense	possibly damaging	0.56
R2032:Or7a41	UTSW	10	78,871,163 (GRCm39)	missense	possibly damaging	0.86
R2112:Or7a41	UTSW	10	78,871,248 (GRCm39)	missense	probably damaging	1.00
R2382:Or7a41	UTSW	10	78,870,968 (GRCm39)	missense	possibly damaging	0.52
R2967:Or7a41	UTSW	10	78,870,887 (GRCm39)	missense	probably damaging	1.00
R3773:Or7a41	UTSW	10	78,871,014 (GRCm39)	missense	possibly damaging	0.95
R3940:Or7a41	UTSW	10	78,871,038 (GRCm39)	missense	probably damaging	1.00
R4405:Or7a41	UTSW	10	78,871,244 (GRCm39)	missense	probably benign
R6563:Or7a41	UTSW	10	78,871,051 (GRCm39)	missense	possibly damaging	0.67
R6614:Or7a41	UTSW	10	78,870,925 (GRCm39)	nonsense	probably null
R7181:Or7a41	UTSW	10	78,871,287 (GRCm39)	missense	probably damaging	0.98
R7639:Or7a41	UTSW	10	78,871,206 (GRCm39)	missense	probably damaging	0.99
R9427:Or7a41	UTSW	10	78,871,395 (GRCm39)	missense	probably damaging	0.99
R9508:Or7a41	UTSW	10	78,870,933 (GRCm39)	missense	probably damaging	1.00
R9652:Or7a41	UTSW	10	78,871,230 (GRCm39)	missense	probably benign	0.05
R9681:Or7a41	UTSW	10	78,871,577 (GRCm39)	missense	probably benign
R9767:Or7a41	UTSW	10	78,870,765 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CATGAGCACAAGACGCTGTG -3'
(R):5'- TGAGTTTTGGGTCACAGCAGAG -3'

Sequencing Primer
(F):5'- CACAAGACGCTGTGGATTGATGATTC -3'
(R):5'- AGAGCTGAGGTACACTCCCAG -3'

Posted On

2017-02-28