Mutagenetix > Incidental Mutation

Incidental Mutation 'R2032:Or7a41'

221380

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

040039-MU

Accession Numbers

Essential gene?

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

Stock #

R2032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78870557-78871636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78871163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 178 (F178I)

Ref Sequence

ENSEMBL: ENSMUSP00000144814 (fasta)

Gene Model

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

AlphaFold

Q8VGU7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082244
AA Change: F178I

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080872
Gene: ENSMUSG00000060205
AA Change: F178I

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

possibly damaging
Transcript: ENSMUST00000203906
AA Change: F178I

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144814
Gene: ENSMUSG00000060205
AA Change: F178I

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

0.3538

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,585,056 (GRCm39)		probably benign	Het
Abca7	C	T	10: 79,844,071 (GRCm39)	T1359M	probably damaging	Het
Acox2	A	G	14: 8,246,400 (GRCm38)	S464P	probably benign	Het
Adgrf1	C	T	17: 43,622,166 (GRCm39)	T801I	probably damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Akap12	C	A	10: 4,306,673 (GRCm39)	A1161D	possibly damaging	Het
Ankrd36	T	A	11: 5,578,616 (GRCm39)	V635D	possibly damaging	Het
Ankrd44	C	T	1: 54,762,168 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,203,373 (GRCm39)	V28A	probably benign	Het
Atxn3	A	T	12: 101,908,453 (GRCm39)	L133*	probably null	Het
Bmp2	T	C	2: 133,403,216 (GRCm39)	S256P	probably benign	Het
Ccdc121rt3	G	A	5: 112,502,978 (GRCm39)	T242I	possibly damaging	Het
Ccdc138	T	A	10: 58,348,984 (GRCm39)	Y177N	possibly damaging	Het
Ccdc168	C	A	1: 44,100,900 (GRCm39)	C66F	possibly damaging	Het
Cdcp3	G	A	7: 130,844,781 (GRCm39)	G674E	probably damaging	Het
Cep164	C	T	9: 45,682,898 (GRCm39)	V931M	probably damaging	Het
Cfhr4	T	A	1: 139,660,993 (GRCm39)		probably benign	Het
CK137956	T	C	4: 127,839,069 (GRCm39)	T450A	probably benign	Het
Col23a1	G	A	11: 51,450,835 (GRCm39)	G215D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd6a	T	C	14: 26,325,904 (GRCm39)	M5T	probably benign	Het
Dnajc6	T	G	4: 101,471,435 (GRCm39)	I284S	probably benign	Het
Dolpp1	C	T	2: 30,282,453 (GRCm39)	A2V	probably damaging	Het
Eml2	C	T	7: 18,936,480 (GRCm39)	T711I	probably benign	Het
Evi5l	T	C	8: 4,260,622 (GRCm39)	D1065G	probably damaging	Het
Fam110b	G	T	4: 5,799,460 (GRCm39)	A293S	probably benign	Het
Fap	A	G	2: 62,372,581 (GRCm39)	V266A	probably benign	Het
Fgf10	A	T	13: 118,852,131 (GRCm39)	Y71F	probably damaging	Het
Gm3443	G	T	19: 21,533,164 (GRCm39)	G43C	probably damaging	Het
Gpr146	T	C	5: 139,364,902 (GRCm39)		probably benign	Het
Hif3a	A	T	7: 16,785,104 (GRCm39)	L172H	probably damaging	Het
Mas1	T	C	17: 13,061,457 (GRCm39)		probably benign	Het
Nlrp5	G	A	7: 23,120,937 (GRCm39)	R717Q	probably damaging	Het
Nop14	A	G	5: 34,817,283 (GRCm39)	V36A	possibly damaging	Het
Or10v5	C	T	19: 11,805,664 (GRCm39)	C242Y	probably damaging	Het
Or51a39	A	T	7: 102,363,083 (GRCm39)	I179N	probably benign	Het
Parp4	T	A	14: 56,866,553 (GRCm39)	I1039K	possibly damaging	Het
Pate12	T	C	9: 36,344,195 (GRCm39)		probably null	Het
Pold2	A	T	11: 5,826,757 (GRCm39)	I59N	probably benign	Het
Prr36	T	C	8: 4,264,304 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,716,088 (GRCm39)		probably benign	Het
Recql	C	T	6: 142,313,009 (GRCm39)	G403R	probably damaging	Het
Serpina3m	T	A	12: 104,355,928 (GRCm39)	D198E	probably benign	Het
Sik2	A	T	9: 50,906,947 (GRCm39)	Y93N	probably damaging	Het
Slc27a3	C	T	3: 90,294,704 (GRCm39)	R389H	probably damaging	Het
Slc29a1	A	T	17: 45,897,035 (GRCm39)	M417K	probably damaging	Het
Syt13	A	G	2: 92,783,746 (GRCm39)	K339E	probably damaging	Het
Tmem237	A	T	1: 59,148,265 (GRCm39)	H163Q	probably benign	Het
Tram2	C	T	1: 21,074,180 (GRCm39)	G253R	probably null	Het
Trpv1	A	G	11: 73,129,211 (GRCm39)	T43A	probably benign	Het
Ugt2b34	A	G	5: 87,039,131 (GRCm39)	I510T	probably damaging	Het
Vmn1r224	C	A	17: 20,639,658 (GRCm39)	D78E	probably benign	Het
Vmn1r78	A	T	7: 11,887,210 (GRCm39)	I274L	probably benign	Het
Wdfy4	C	T	14: 32,868,946 (GRCm39)	V361I	probably benign	Het
Zpbp2	A	T	11: 98,445,534 (GRCm39)	K165N	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
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
R5944:Or7a41	UTSW	10	78,871,223 (GRCm39)	missense	probably benign	0.00
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'- AAGGCCATCACCTATGCAG -3'
(R):5'- CTGCACTGAGGAGATTGCAC -3'

Sequencing Primer
(F):5'- CTGACTGTGATGGCCTATGACC -3'
(R):5'- CTGCACTGAGGAGATTGCACAAATG -3'

Posted On

2014-08-25