Mutagenetix > Incidental Mutation

Incidental Mutation 'R0136:Or1e34'

21968

Institutional Source

Beutler Lab

Gene Symbol

Or1e34

Ensembl Gene

ENSMUSG00000056921

Gene Name

olfactory receptor family 1 subfamily E member 34

Synonyms

GA_x6K02T2P1NL-4043306-4042374, Olfr394, MOR135-8

MMRRC Submission

038421-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73778264-73779196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73778611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 196 (M196V)

Ref Sequence

ENSEMBL: ENSMUSP00000149527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071478] [ENSMUST00000214284] [ENSMUST00000216608]

AlphaFold

Q8VGR5

Predicted Effect

probably benign
Transcript: ENSMUST00000071478
AA Change: M196V

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

SMART Domains

Protein: ENSMUSP00000071415
Gene: ENSMUSG00000056921
AA Change: M196V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.4e-55	PFAM
Pfam:7TM_GPCR_Srsx	33	303	4e-7	PFAM
Pfam:7tm_1	39	288	1.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214284
AA Change: M196V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000216608
AA Change: M196V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4b1	T	C	3: 103,717,262 (GRCm39)	M1T	probably null	Het
Arg2	T	C	12: 79,196,780 (GRCm39)	L167P	probably damaging	Het
Atxn1	A	G	13: 45,720,645 (GRCm39)	S417P	probably damaging	Het
Baz2b	A	G	2: 59,732,298 (GRCm39)	V1949A	probably benign	Het
Bcl3	A	G	7: 19,543,494 (GRCm39)	V324A	probably damaging	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Camta1	A	G	4: 151,163,426 (GRCm39)	S1479P	probably damaging	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Col5a1	T	C	2: 27,914,843 (GRCm39)	L153P	probably damaging	Het
Crat	C	A	2: 30,297,042 (GRCm39)	V304L	probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Fau	T	C	19: 6,109,210 (GRCm39)	V86A	possibly damaging	Het
Garem1	T	G	18: 21,263,048 (GRCm39)	S589R	probably damaging	Het
Gbp3	T	G	3: 142,269,862 (GRCm39)		probably null	Het
Gin1	T	A	1: 97,710,741 (GRCm39)	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,464,840 (GRCm39)	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,269,638 (GRCm39)	I517T	probably benign	Het
Hivep2	T	C	10: 14,007,622 (GRCm39)	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,542,991 (GRCm39)	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,804,165 (GRCm39)	L588P	probably damaging	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Itgb1	T	G	8: 129,449,335 (GRCm39)	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,752,159 (GRCm39)		probably benign	Het
Map7d1	A	T	4: 126,130,424 (GRCm39)		probably null	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Med13l	A	G	5: 118,862,115 (GRCm39)	T353A	probably benign	Het
Mgat4b	T	C	11: 50,121,908 (GRCm39)	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,580,369 (GRCm39)	W211R	probably damaging	Het
Morc2a	T	G	11: 3,635,907 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Ndufa10	A	T	1: 92,390,850 (GRCm39)	Y233*	probably null	Het
Nek8	C	T	11: 78,062,033 (GRCm39)	S237N	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 125,990,507 (GRCm39)	S165P	probably benign	Het
Nsd2	A	G	5: 34,012,880 (GRCm39)	K404E	possibly damaging	Het
Nsd3	G	T	8: 26,149,870 (GRCm39)	E352*	probably null	Het
Nudt9	A	G	5: 104,194,972 (GRCm39)	T23A	probably benign	Het
Or8b57	A	G	9: 40,003,315 (GRCm39)	*312Q	probably null	Het
Patj	C	A	4: 98,555,885 (GRCm39)	Q297K	probably damaging	Het
Pelo	A	T	13: 115,225,439 (GRCm39)	C40*	probably null	Het
Pnpla3	G	A	15: 84,058,679 (GRCm39)		probably null	Het
Pramel1	C	A	4: 143,124,016 (GRCm39)	N230K	probably damaging	Het
Psg20	A	C	7: 18,416,432 (GRCm39)	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,896,639 (GRCm39)	F44L	probably benign	Het
Septin2	G	A	1: 93,434,772 (GRCm39)	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,476,499 (GRCm39)		probably benign	Het
Slc12a8	A	G	16: 33,428,583 (GRCm39)	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,485,956 (GRCm39)	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,881,483 (GRCm39)	F335L	probably benign	Het
Slc26a5	T	C	5: 22,039,345 (GRCm39)	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,653,187 (GRCm39)	S144G	probably benign	Het
Spata20	T	A	11: 94,371,435 (GRCm39)	D643V	probably damaging	Het
Spata24	T	C	18: 35,793,515 (GRCm39)	K99R	probably damaging	Het
Taar5	A	G	10: 23,847,607 (GRCm39)	Y335C	probably damaging	Het
Tpr	A	G	1: 150,306,346 (GRCm39)	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,782 (GRCm39)	Y360*	probably null	Het
Ybx1	C	A	4: 119,139,551 (GRCm39)	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,445,016 (GRCm39)	K720E	probably benign	Het
Zfp599	A	G	9: 22,161,038 (GRCm39)	S376P	probably benign	Het
Zic2	A	G	14: 122,713,953 (GRCm39)	E289G	probably damaging	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Or1e34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Or1e34	APN	11	73,779,075 (GRCm39)	missense	probably damaging	1.00
IGL01655:Or1e34	APN	11	73,778,753 (GRCm39)	missense	probably benign	0.01
IGL02173:Or1e34	APN	11	73,778,949 (GRCm39)	missense	possibly damaging	0.72
IGL02308:Or1e34	APN	11	73,779,121 (GRCm39)	missense	probably benign	0.09
IGL02656:Or1e34	APN	11	73,778,865 (GRCm39)	missense	probably damaging	0.98
R0079:Or1e34	UTSW	11	73,778,563 (GRCm39)	missense	probably benign	0.22
R0119:Or1e34	UTSW	11	73,778,656 (GRCm39)	missense	probably benign	0.11
R0136:Or1e34	UTSW	11	73,778,656 (GRCm39)	missense	probably benign	0.11
R0255:Or1e34	UTSW	11	73,778,655 (GRCm39)	missense	probably benign
R0545:Or1e34	UTSW	11	73,778,843 (GRCm39)	nonsense	probably null
R0599:Or1e34	UTSW	11	73,778,730 (GRCm39)	missense	probably benign	0.19
R0655:Or1e34	UTSW	11	73,778,631 (GRCm39)	missense	possibly damaging	0.88
R0657:Or1e34	UTSW	11	73,778,656 (GRCm39)	missense	probably benign	0.11
R0657:Or1e34	UTSW	11	73,778,611 (GRCm39)	missense	probably benign	0.00
R0720:Or1e34	UTSW	11	73,778,688 (GRCm39)	missense	probably benign	0.12
R1112:Or1e34	UTSW	11	73,779,060 (GRCm39)	missense	probably damaging	0.99
R2353:Or1e34	UTSW	11	73,778,660 (GRCm39)	missense	probably benign	0.02
R2924:Or1e34	UTSW	11	73,778,337 (GRCm39)	missense	probably damaging	0.99
R4583:Or1e34	UTSW	11	73,778,629 (GRCm39)	missense	probably damaging	1.00
R5231:Or1e34	UTSW	11	73,778,781 (GRCm39)	missense	probably damaging	1.00
R5537:Or1e34	UTSW	11	73,778,523 (GRCm39)	missense	probably benign	0.02
R5806:Or1e34	UTSW	11	73,778,373 (GRCm39)	missense	probably damaging	0.99
R7131:Or1e34	UTSW	11	73,778,780 (GRCm39)	nonsense	probably null
R7325:Or1e34	UTSW	11	73,779,101 (GRCm39)	missense	probably benign	0.19
R7361:Or1e34	UTSW	11	73,778,827 (GRCm39)	missense	probably damaging	1.00
R9446:Or1e34	UTSW	11	73,778,530 (GRCm39)	missense	probably benign	0.18
R9711:Or1e34	UTSW	11	73,778,696 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTAGATGAAGGGGTTCAGCATGG -3'
(R):5'- TGGAGGTTGCCTGGCACAAATATTC -3'

Sequencing Primer
(F):5'- ATGGCAGACCCCTTTAGACTG -3'
(R):5'- CTAGCATCATGAGTCCTAAGGTCTG -3'

Posted On

2013-04-12