Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Or11h4'

236902

Institutional Source

Beutler Lab

Gene Symbol

Or11h4

Ensembl Gene

ENSMUSG00000059069

Gene Name

olfactory receptor family 11 subfamily H member 4

Synonyms

MOR106-1, Olfr749, GA_x6K02T2PMLR-6484046-6483105

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50973676-50981781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50973681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 313 (M313V)

Ref Sequence

ENSEMBL: ENSMUSP00000150627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074674] [ENSMUST00000214290]

AlphaFold

E9Q438

Predicted Effect

probably benign
Transcript: ENSMUST00000074674
AA Change: M313V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074242
Gene: ENSMUSG00000059069
AA Change: M313V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	5.2e-53	PFAM
Pfam:7tm_1	40	289	7.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214290
AA Change: M313V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

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]
PHENOTYPE: A reporter allele shows expression of this olfactory receptor by embryonic day 15.5 and throughout olfactory development there is an increase in the numbers of expressing olfactory sensory neurons with expression localized to the dorsal main olfactory epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,657,649 (GRCm39)	Y548F	probably benign	Het
Armc9	T	C	1: 86,127,614 (GRCm39)	L83P	probably damaging	Het
BC051665	A	T	13: 60,932,344 (GRCm39)		probably benign	Het
Casp3	A	G	8: 47,082,791 (GRCm39)	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,865,070 (GRCm39)	M109I	probably benign	Het
Ccr6	T	A	17: 8,475,073 (GRCm39)	F93I	probably damaging	Het
Clvs2	T	C	10: 33,471,811 (GRCm39)	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,320,941 (GRCm39)	V171A	probably benign	Het
Dennd5a	C	A	7: 109,504,327 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,586,044 (GRCm39)	Y546F	probably benign	Het
Fat2	A	G	11: 55,158,401 (GRCm39)		probably null	Het
Focad	T	A	4: 88,197,481 (GRCm39)	Y625N	unknown	Het
Fyb1	A	G	15: 6,609,435 (GRCm39)	K3E	probably damaging	Het
Gm14496	G	A	2: 181,633,130 (GRCm39)	D38N	probably benign	Het
Gm20403	T	C	12: 55,033,155 (GRCm39)	T54A	probably benign	Het
Gm9830	A	G	9: 44,375,556 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,792,277 (GRCm39)	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,715,233 (GRCm39)	L175S	probably benign	Het
Inhca	A	G	9: 103,136,566 (GRCm39)		probably benign	Het
Itgav	C	T	2: 83,633,599 (GRCm39)	R983C	probably damaging	Het
Kcna10	T	C	3: 107,102,032 (GRCm39)	V221A	probably damaging	Het
Kif13b	G	A	14: 64,907,120 (GRCm39)	V35I	probably benign	Het
Kif6	G	A	17: 50,062,258 (GRCm39)	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,426,042 (GRCm39)	T452A	probably benign	Het
Mllt1	A	G	17: 57,204,398 (GRCm39)	S382P	probably benign	Het
Myo15b	T	C	11: 115,757,398 (GRCm39)	W1083R	probably damaging	Het
Nell2	T	C	15: 95,333,038 (GRCm39)	I174V	probably damaging	Het
Noct	G	A	3: 51,157,117 (GRCm39)		probably null	Het
Nvl	A	T	1: 180,962,639 (GRCm39)		probably benign	Het
Ofcc1	T	C	13: 40,250,595 (GRCm39)	S574G	probably benign	Het
Or10a3m	G	A	7: 108,313,339 (GRCm39)	V248I	probably damaging	Het
Or4a75	A	T	2: 89,447,924 (GRCm39)	M204K	possibly damaging	Het
Pip5k1a	A	T	3: 94,972,807 (GRCm39)	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,623,741 (GRCm39)	P785S	probably damaging	Het
Plcg2	A	G	8: 118,339,733 (GRCm39)	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,570,720 (GRCm39)	V337E	probably benign	Het
Prkg2	T	C	5: 99,114,368 (GRCm39)		probably benign	Het
Prl7a2	T	G	13: 27,843,089 (GRCm39)	Y238S	probably benign	Het
Psg28	T	A	7: 18,161,804 (GRCm39)	D233V	probably damaging	Het
Rad50	A	G	11: 53,589,036 (GRCm39)	C221R	probably benign	Het
Rgl3	A	G	9: 21,887,254 (GRCm39)		probably benign	Het
Rgsl1	T	A	1: 153,701,014 (GRCm39)		probably benign	Het
Ror1	C	A	4: 100,299,071 (GRCm39)	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,275,534 (GRCm39)	D360E	probably benign	Het
Ryr3	T	C	2: 112,496,680 (GRCm39)	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 118,389,616 (GRCm39)	F342I	possibly damaging	Het
Setd5	A	G	6: 113,128,114 (GRCm39)	R1337G	probably benign	Het
Siglecf	T	C	7: 43,001,140 (GRCm39)	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,239,542 (GRCm39)	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,063,587 (GRCm39)	M2280L	probably benign	Het
Syngr2	T	C	11: 117,703,406 (GRCm39)	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,878,866 (GRCm39)	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,258,516 (GRCm39)	E502G	probably damaging	Het
Tph1	T	A	7: 46,311,463 (GRCm39)	D88V	possibly damaging	Het
Tpr	A	G	1: 150,295,691 (GRCm39)	K979E	possibly damaging	Het
Usp47	A	G	7: 111,691,934 (GRCm39)	T799A	probably benign	Het
Utf1	A	G	7: 139,523,920 (GRCm39)	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,956,772 (GRCm39)	C242S	probably damaging	Het
Wrnip1	T	C	13: 33,004,223 (GRCm39)	I498T	probably damaging	Het
Ypel2	T	A	11: 86,862,699 (GRCm39)	H18L	probably benign	Het
Zan	T	G	5: 137,420,110 (GRCm39)	D2849A	unknown	Het
Zfp647	A	T	15: 76,795,860 (GRCm39)	F267I	probably damaging	Het
Zfp786	G	T	6: 47,797,905 (GRCm39)	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,662,614 (GRCm39)	A365S	probably benign	Het
Zswim5	T	C	4: 116,830,238 (GRCm39)	W538R	probably damaging	Het

Other mutations in Or11h4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03188:Or11h4	APN	14	50,974,315 (GRCm39)	nonsense	probably null
R0141:Or11h4	UTSW	14	50,973,840 (GRCm39)	missense	possibly damaging	0.94
R0462:Or11h4	UTSW	14	50,974,554 (GRCm39)	missense	probably benign
R1424:Or11h4	UTSW	14	50,974,521 (GRCm39)	missense	probably benign
R1791:Or11h4	UTSW	14	50,974,144 (GRCm39)	small insertion	probably benign
R1912:Or11h4	UTSW	14	50,974,235 (GRCm39)	missense	probably damaging	1.00
R2069:Or11h4	UTSW	14	50,974,033 (GRCm39)	missense	possibly damaging	0.51
R2171:Or11h4	UTSW	14	50,973,876 (GRCm39)	missense	probably benign	0.33
R2184:Or11h4	UTSW	14	50,974,059 (GRCm39)	missense	probably damaging	0.98
R3158:Or11h4	UTSW	14	50,974,271 (GRCm39)	missense	probably benign	0.01
R5068:Or11h4	UTSW	14	50,974,531 (GRCm39)	missense	probably benign	0.02
R5069:Or11h4	UTSW	14	50,974,531 (GRCm39)	missense	probably benign	0.02
R5070:Or11h4	UTSW	14	50,974,531 (GRCm39)	missense	probably benign	0.02
R5733:Or11h4	UTSW	14	50,974,509 (GRCm39)	missense	probably benign	0.32
R6155:Or11h4	UTSW	14	50,974,076 (GRCm39)	missense	probably benign	0.02
R6728:Or11h4	UTSW	14	50,974,296 (GRCm39)	missense	possibly damaging	0.61
R7033:Or11h4	UTSW	14	50,974,164 (GRCm39)	missense	possibly damaging	0.78
R7276:Or11h4	UTSW	14	50,974,187 (GRCm39)	missense	possibly damaging	0.90
R7535:Or11h4	UTSW	14	50,974,122 (GRCm39)	missense	probably benign	0.37
R8124:Or11h4	UTSW	14	50,973,743 (GRCm39)	missense	probably benign	0.03
R9021:Or11h4	UTSW	14	50,974,554 (GRCm39)	missense	probably benign
R9632:Or11h4	UTSW	14	50,974,199 (GRCm39)	missense	probably benign	0.42
R9710:Or11h4	UTSW	14	50,974,199 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- TCTCTGGGTATAGAAAATGAGGTC -3'
(R):5'- AAAGGCCTTCTCTACCTGTGG -3'

Sequencing Primer
(F):5'- TCCTAGGACTTGGAATATGCAAGC -3'
(R):5'- GTGGTATCACTCTTCTATGGTACAG -3'

Posted On

2014-10-02