Mutagenetix > Incidental Mutation

Incidental Mutation 'R4379:Or7g34'

325253

Institutional Source

Beutler Lab

Gene Symbol

Or7g34

Ensembl Gene

ENSMUSG00000095667

Gene Name

olfactory receptor family 7 subfamily G member 34

Synonyms

MOR147-3, GA_x6K02T2PVTD-13313295-13312357, Olfr854

MMRRC Submission

041677-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R4379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19477731-19478678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19478038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 211 (L211P)

Ref Sequence

ENSEMBL: ENSMUSP00000148270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072419] [ENSMUST00000212872]

AlphaFold

Q8VFF1

Predicted Effect

probably benign
Transcript: ENSMUST00000072419
AA Change: L214P

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000072248
Gene: ENSMUSG00000095667
AA Change: L214P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2.3e-51	PFAM
Pfam:7TM_GPCR_Srsx	38	308	9.6e-7	PFAM
Pfam:7tm_1	44	293	1.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212872
AA Change: L211P

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.6050

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (53/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,915,875 (GRCm39)	H1252Q	probably benign	Het
Adcy3	T	C	12: 4,184,558 (GRCm39)	L78P	probably damaging	Het
Agmat	G	T	4: 141,484,802 (GRCm39)	A282S	probably benign	Het
Akap8	G	T	17: 32,525,534 (GRCm39)	T515K	probably damaging	Het
Akap8l	T	C	17: 32,540,488 (GRCm39)		probably benign	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
AW209491	T	C	13: 14,812,412 (GRCm39)	*422Q	probably null	Het
Cdan1	A	G	2: 120,557,099 (GRCm39)	F576L	probably damaging	Het
Cers5	A	G	15: 99,649,134 (GRCm39)	F45L	probably damaging	Het
Dst	A	G	1: 34,267,056 (GRCm39)	I5011V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
En1	A	G	1: 120,531,084 (GRCm39)	N108S	possibly damaging	Het
Entrep3	A	T	3: 89,093,064 (GRCm39)	D274V	probably damaging	Het
Fancd2	T	C	6: 113,538,677 (GRCm39)	S591P	probably benign	Het
Glt1d1	T	C	5: 127,771,346 (GRCm39)	V279A	possibly damaging	Het
Gm10051	C	T	5: 133,504,287 (GRCm39)		noncoding transcript	Het
Gpr158	G	T	2: 21,830,025 (GRCm39)	G690V	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Grm7	T	A	6: 111,223,335 (GRCm39)	N458K	probably benign	Het
Hibadh	G	A	6: 52,597,027 (GRCm39)	S139L	probably damaging	Het
Hivep1	C	T	13: 42,308,906 (GRCm39)	S382F	probably damaging	Het
Ift74	A	G	4: 94,568,171 (GRCm39)	N403D	probably benign	Het
Igkv4-81	A	G	6: 68,967,933 (GRCm39)	L56S	probably damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lmbr1l	G	T	15: 98,807,144 (GRCm39)	C212*	probably null	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Lrrc34	A	G	3: 30,685,524 (GRCm39)	L275P	probably damaging	Het
Mgam2-ps	T	C	6: 40,810,793 (GRCm39)		noncoding transcript	Het
Mief1	T	G	15: 80,132,160 (GRCm39)	M77R	possibly damaging	Het
Neurod6	T	C	6: 55,656,257 (GRCm39)	T127A	probably damaging	Het
Nif3l1	A	C	1: 58,494,738 (GRCm39)		probably benign	Het
Nlrp12	T	A	7: 3,288,554 (GRCm39)	T653S	probably benign	Het
Nol7	G	T	13: 43,555,051 (GRCm39)	W228L	probably damaging	Het
Nrp1	G	A	8: 129,194,948 (GRCm39)	R468H	probably damaging	Het
Or5ac15	C	T	16: 58,940,027 (GRCm39)	M135I	probably benign	Het
Pbrm1	A	T	14: 30,789,663 (GRCm39)	H785L	probably damaging	Het
Pus7	T	C	5: 23,953,864 (GRCm39)		probably benign	Het
Qser1	G	T	2: 104,596,404 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,095,800 (GRCm39)	V51A	probably damaging	Het
Setbp1	T	C	18: 79,129,896 (GRCm39)	N112S	probably damaging	Het
Svil	C	T	18: 5,046,909 (GRCm39)	H52Y	probably damaging	Het
Taf1d	T	A	9: 15,223,277 (GRCm39)		probably benign	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,036,400 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,424 (GRCm39)	Y103C	probably damaging	Het
Trim28	A	T	7: 12,763,407 (GRCm39)	D516V	probably damaging	Het
Usp34	T	A	11: 23,334,499 (GRCm39)	N1164K	possibly damaging	Het
Vmn2r115	A	G	17: 23,564,197 (GRCm39)	Y123C	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp28	C	T	7: 6,396,441 (GRCm39)	T292I	probably benign	Het
Zmynd8	A	T	2: 165,649,858 (GRCm39)		probably null	Het
Zscan4d	A	G	7: 10,898,905 (GRCm39)	V124A	probably benign	Het

Other mutations in Or7g34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Or7g34	APN	9	19,478,471 (GRCm39)	missense	probably damaging	1.00
IGL02072:Or7g34	APN	9	19,478,245 (GRCm39)	missense	probably benign	0.00
IGL02156:Or7g34	APN	9	19,478,494 (GRCm39)	missense	probably damaging	1.00
IGL02187:Or7g34	APN	9	19,478,393 (GRCm39)	missense	probably benign	0.16
IGL02252:Or7g34	APN	9	19,478,267 (GRCm39)	missense	probably damaging	0.99
R0519:Or7g34	UTSW	9	19,478,245 (GRCm39)	missense	probably benign	0.21
R0755:Or7g34	UTSW	9	19,478,415 (GRCm39)	missense	possibly damaging	0.94
R0899:Or7g34	UTSW	9	19,477,843 (GRCm39)	missense	probably damaging	1.00
R1832:Or7g34	UTSW	9	19,478,492 (GRCm39)	missense	possibly damaging	0.88
R2115:Or7g34	UTSW	9	19,478,618 (GRCm39)	missense	probably benign	0.12
R4326:Or7g34	UTSW	9	19,478,318 (GRCm39)	missense	possibly damaging	0.95
R4328:Or7g34	UTSW	9	19,478,318 (GRCm39)	missense	possibly damaging	0.95
R4329:Or7g34	UTSW	9	19,478,318 (GRCm39)	missense	possibly damaging	0.95
R4381:Or7g34	UTSW	9	19,478,038 (GRCm39)	missense	probably benign	0.15
R5576:Or7g34	UTSW	9	19,478,369 (GRCm39)	missense	probably benign
R6102:Or7g34	UTSW	9	19,478,318 (GRCm39)	missense	possibly damaging	0.87
R7449:Or7g34	UTSW	9	19,478,162 (GRCm39)	missense	probably benign	0.06
R7515:Or7g34	UTSW	9	19,477,949 (GRCm39)	missense	probably damaging	1.00
R8143:Or7g34	UTSW	9	19,478,587 (GRCm39)	missense	probably benign	0.04
R8813:Or7g34	UTSW	9	19,477,895 (GRCm39)	missense	probably damaging	1.00
R9515:Or7g34	UTSW	9	19,478,396 (GRCm39)	missense	possibly damaging	0.74
Z1176:Or7g34	UTSW	9	19,477,822 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGGGTTCAGCATCTGAGG -3'
(R):5'- TGGATTCTTTAATGCACAGCCTG -3'

Sequencing Primer
(F):5'- GGTTCAGCATCTGAGGTACAAC -3'
(R):5'- TAATGCACAGCCTGATGGTGC -3'

Posted On

2015-07-06