Mutagenetix > Incidental Mutation

Incidental Mutation 'R2167:Or10h5'

235577

Institutional Source

Beutler Lab

Gene Symbol

Or10h5

Ensembl Gene

ENSMUSG00000096169

Gene Name

olfactory receptor family 10 subfamily H member 5

Synonyms

Olfr1564, Gm4461

MMRRC Submission

040170-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R2167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33434235-33435325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33434542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 262 (I262F)

Ref Sequence

ENSEMBL: ENSMUSP00000127247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112162] [ENSMUST00000208645] [ENSMUST00000213642] [ENSMUST00000213751] [ENSMUST00000215450]

AlphaFold

K7N6V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000112162
AA Change: I262F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127247
Gene: ENSMUSG00000096169
AA Change: I262F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	312	3.3e-53	PFAM
Pfam:7TM_GPCR_Srsx	38	263	1.5e-5	PFAM
Pfam:7tm_1	44	297	5e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208645
AA Change: I259F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213642
AA Change: I259F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213751
AA Change: I259F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215450
AA Change: I259F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.5198

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (57/58)

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, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,238,532 (GRCm39)	T710M	probably benign	Het
Acan	A	G	7: 78,749,705 (GRCm39)	E1492G	probably benign	Het
Acsl1	A	G	8: 46,986,627 (GRCm39)	D638G	possibly damaging	Het
Acsl6	C	A	11: 54,217,983 (GRCm39)	T207K	probably benign	Het
Ahnak	A	T	19: 8,988,858 (GRCm39)	K3381*	probably null	Het
Art1	T	C	7: 101,756,031 (GRCm39)	V74A	probably damaging	Het
Bhmt2	A	T	13: 93,799,012 (GRCm39)	W270R	probably benign	Het
Calm2	T	C	17: 87,742,573 (GRCm39)	T118A	probably benign	Het
Ccdc88b	G	T	19: 6,831,452 (GRCm39)	Q497K	possibly damaging	Het
Ccne2	A	T	4: 11,197,249 (GRCm39)	M183L	probably benign	Het
Cdc42bpg	A	G	19: 6,367,707 (GRCm39)	I1026V	probably damaging	Het
Celsr2	T	C	3: 108,320,509 (GRCm39)	T768A	probably damaging	Het
Cog5	T	C	12: 31,887,288 (GRCm39)	F470L	probably damaging	Het
Cpne5	T	C	17: 29,381,306 (GRCm39)	D374G	probably damaging	Het
Disp2	A	C	2: 118,622,166 (GRCm39)	E966A	probably damaging	Het
Dmrtc2	C	T	7: 24,573,344 (GRCm39)		probably benign	Het
Eif2b3	T	A	4: 116,885,737 (GRCm39)	I93N	probably damaging	Het
Elfn2	C	A	15: 78,556,646 (GRCm39)	V634L	probably benign	Het
Fasl	T	G	1: 161,614,707 (GRCm39)	S119R	probably benign	Het
Foxp2	C	G	6: 15,437,901 (GRCm39)	P701A	probably damaging	Het
Helz	T	A	11: 107,563,790 (GRCm39)		probably benign	Het
Kctd6	T	C	14: 8,222,683 (GRCm38)	V175A	probably benign	Het
Leo1	A	G	9: 75,352,991 (GRCm39)	N178S	probably benign	Het
Lhx6	C	A	2: 35,993,371 (GRCm39)	R80L	probably damaging	Het
Man1a2	A	G	3: 100,499,216 (GRCm39)	L406P	probably damaging	Het
Mapkap1	T	C	2: 34,487,494 (GRCm39)	F231L	probably damaging	Het
Mknk2	A	G	10: 80,504,535 (GRCm39)	Y256H	probably damaging	Het
Msh6	A	G	17: 88,296,911 (GRCm39)	T1203A	probably damaging	Het
Nbeal2	T	C	9: 110,467,376 (GRCm39)	Y604C	probably damaging	Het
Ncam1	G	T	9: 49,479,781 (GRCm39)	Q66K	probably benign	Het
Nsd2	T	A	5: 34,040,263 (GRCm39)	H933Q	probably damaging	Het
Or13p3	T	C	4: 118,567,252 (GRCm39)	V216A	probably benign	Het
Or2d3c	A	G	7: 106,525,797 (GRCm39)	Y290H	probably damaging	Het
Or5h23	T	A	16: 58,905,949 (GRCm39)	K299I	probably benign	Het
Pappa	A	C	4: 65,074,682 (GRCm39)	D412A	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rassf6	C	T	5: 90,751,797 (GRCm39)	E308K	probably damaging	Het
Rb1	T	C	14: 73,449,091 (GRCm39)	T680A	probably damaging	Het
Rfpl4	T	A	7: 5,113,852 (GRCm39)	I104F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnase6	A	C	14: 51,367,974 (GRCm39)	D122A	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,531,792 (GRCm39)	T39I	possibly damaging	Het
Slc12a1	A	G	2: 125,015,601 (GRCm39)	I385V	probably damaging	Het
Slc6a17	A	T	3: 107,398,817 (GRCm39)	Y261*	probably null	Het
Supt6	G	A	11: 78,098,993 (GRCm39)	P1626L	possibly damaging	Het
Tbx15	A	G	3: 99,233,771 (GRCm39)		probably benign	Het
Telo2	A	G	17: 25,329,792 (GRCm39)	V240A	probably benign	Het
Trhr	C	T	15: 44,092,638 (GRCm39)	L292F	probably damaging	Het
Trps1	G	A	15: 50,695,126 (GRCm39)	L340F	possibly damaging	Het
Ube2e1	T	C	14: 18,284,429 (GRCm38)		probably benign	Het
Yeats2	T	C	16: 20,032,151 (GRCm39)		probably benign	Het
Zbtb39	G	A	10: 127,578,844 (GRCm39)	E473K	probably benign	Het
Zfp235	T	A	7: 23,840,387 (GRCm39)	S269T	possibly damaging	Het
Zfp580	C	A	7: 5,056,063 (GRCm39)	P141Q	possibly damaging	Het

Other mutations in Or10h5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Or10h5	APN	17	33,434,947 (GRCm39)	missense	probably benign	0.41
R0079:Or10h5	UTSW	17	33,435,079 (GRCm39)	missense	probably benign	0.14
R0939:Or10h5	UTSW	17	33,434,635 (GRCm39)	missense	possibly damaging	0.72
R1279:Or10h5	UTSW	17	33,435,300 (GRCm39)	missense	possibly damaging	0.59
R2866:Or10h5	UTSW	17	33,435,252 (GRCm39)	missense	probably benign	0.22
R4738:Or10h5	UTSW	17	33,434,784 (GRCm39)	missense	probably benign	0.03
R4976:Or10h5	UTSW	17	33,434,728 (GRCm39)	missense	probably benign	0.35
R6452:Or10h5	UTSW	17	33,434,919 (GRCm39)	missense	probably benign	0.03
R6721:Or10h5	UTSW	17	33,434,508 (GRCm39)	missense	probably benign
R7322:Or10h5	UTSW	17	33,434,673 (GRCm39)	missense	probably damaging	1.00
R8032:Or10h5	UTSW	17	33,434,924 (GRCm39)	missense	possibly damaging	0.85
R8470:Or10h5	UTSW	17	33,434,868 (GRCm39)	missense	probably benign	0.00
R9560:Or10h5	UTSW	17	33,434,986 (GRCm39)	missense	probably damaging	1.00
R9562:Or10h5	UTSW	17	33,434,415 (GRCm39)	missense	probably benign	0.06
R9753:Or10h5	UTSW	17	33,434,688 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- CTCCCACTGGTAAGCCATTG -3'
(R):5'- CCACCTCTATTGAAGTTGGCATG -3'

Sequencing Primer
(F):5'- CCACTGGTAAGCCATTGTCTTTAGG -3'
(R):5'- ACCTCTATTGAAGTTGGCATGTGGAG -3'

Posted On

2014-10-01