Mutagenetix > Incidental Mutation

Incidental Mutation 'R1691:Or9i1b'

191839

Institutional Source

Beutler Lab

Gene Symbol

Or9i1b

Ensembl Gene

ENSMUSG00000062314

Gene Name

olfactory receptor family 9 subfamily I member 1B

Synonyms

Olfr1505, MOR211-10_i, MOR211-4P, GA_x6K02T2RE5P-4250267-4251217

MMRRC Submission

039724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R1691 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13896386-13897336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13896783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 133 (T133I)

Ref Sequence

ENSEMBL: ENSMUSP00000148945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081520] [ENSMUST00000216623] [ENSMUST00000216835]

AlphaFold

Q7TQQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000081520
AA Change: T133I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000080235
Gene: ENSMUSG00000062314
AA Change: T133I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	8.2e-43	PFAM
Pfam:7tm_1	41	290	2.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216623
AA Change: T133I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000216835
AA Change: T133I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,148,814 (GRCm39)	S283P	probably damaging	Het
Adck2	T	A	6: 39,551,902 (GRCm39)	L223*	probably null	Het
Ank	T	C	15: 27,591,030 (GRCm39)	W390R	probably damaging	Het
Ano5	T	C	7: 51,240,327 (GRCm39)	Y752H	probably damaging	Het
Apcs	T	A	1: 172,722,160 (GRCm39)	D62V	probably damaging	Het
Atad5	A	G	11: 79,986,358 (GRCm39)	T482A	probably benign	Het
Atp7b	A	G	8: 22,501,039 (GRCm39)	Y955H	possibly damaging	Het
Ccdc13	A	T	9: 121,654,134 (GRCm39)		probably null	Het
Ccdc157	G	A	11: 4,099,030 (GRCm39)	P159S	probably benign	Het
Cdhr3	C	T	12: 33,132,246 (GRCm39)	V126M	probably damaging	Het
Cdr1	T	C	X: 60,227,780 (GRCm39)	D462G	possibly damaging	Het
Cisd1	A	G	10: 71,180,559 (GRCm39)	V9A	probably benign	Het
Col19a1	T	C	1: 24,576,022 (GRCm39)	R107G	unknown	Het
Col1a2	C	A	6: 4,536,038 (GRCm39)	H972Q	unknown	Het
Col3a1	T	A	1: 45,387,776 (GRCm39)		probably benign	Het
Dbnl	A	G	11: 5,747,174 (GRCm39)	S235G	probably null	Het
Dock4	T	A	12: 40,775,754 (GRCm39)	S566T	probably benign	Het
Efcab6	T	C	15: 83,817,407 (GRCm39)	D722G	probably benign	Het
Esyt1	T	C	10: 128,361,403 (GRCm39)	Q97R	probably benign	Het
Fat2	G	A	11: 55,202,678 (GRCm39)	T132I	probably damaging	Het
Fgd2	C	T	17: 29,597,918 (GRCm39)	Q618*	probably null	Het
Flnc	T	A	6: 29,441,213 (GRCm39)	V389E	probably benign	Het
Garnl3	A	T	2: 32,887,675 (GRCm39)	Y778*	probably null	Het
Gpaa1	A	T	15: 76,216,416 (GRCm39)	Y45F	probably damaging	Het
Grid1	A	T	14: 35,174,286 (GRCm39)	I643F	probably damaging	Het
Gsdmc2	T	C	15: 63,705,314 (GRCm39)	D133G	probably damaging	Het
Hp	T	C	8: 110,302,204 (GRCm39)	D248G	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifna13	T	C	4: 88,562,291 (GRCm39)	D111G	probably benign	Het
Il9r	T	A	11: 32,141,829 (GRCm39)	Q309L	possibly damaging	Het
Insyn2a	C	T	7: 134,520,015 (GRCm39)	A172T	probably damaging	Het
Ints1	A	T	5: 139,754,687 (GRCm39)	D617E	probably damaging	Het
Kcnj12	A	T	11: 60,961,103 (GRCm39)	N467I	possibly damaging	Het
Kmt2e	T	A	5: 23,669,847 (GRCm39)	D111E	probably damaging	Het
Lama4	A	G	10: 38,956,559 (GRCm39)	K1161E	probably benign	Het
Lamc1	C	T	1: 153,122,995 (GRCm39)	D732N	probably benign	Het
Larp1	A	G	11: 57,938,874 (GRCm39)	T517A	probably benign	Het
Lrp12	A	G	15: 39,735,661 (GRCm39)	I757T	probably damaging	Het
Max	T	C	12: 77,000,046 (GRCm39)	D23G	possibly damaging	Het
Nars1	A	T	18: 64,649,485 (GRCm39)		probably null	Het
Nipsnap3a	G	A	4: 52,994,185 (GRCm39)	D91N	probably null	Het
Nphp3	A	G	9: 103,880,010 (GRCm39)	T11A	probably benign	Het
Nr2c2	C	A	6: 92,133,673 (GRCm39)	T226K	probably damaging	Het
Nrxn1	A	G	17: 90,469,717 (GRCm39)	I1288T	probably damaging	Het
Nt5c1b	C	T	12: 10,425,537 (GRCm39)	T360I	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or10a3b	A	G	7: 108,444,348 (GRCm39)	Y290H	possibly damaging	Het
Or13a21	A	T	7: 139,998,855 (GRCm39)	L277Q	probably damaging	Het
Or4e1	A	T	14: 52,701,288 (GRCm39)	H59Q	possibly damaging	Het
Or4k37	G	A	2: 111,159,198 (GRCm39)	V145I	probably benign	Het
Or6d14	A	G	6: 116,533,538 (GRCm39)	T51A	probably benign	Het
Pcsk1	A	G	13: 75,280,344 (GRCm39)	D723G	possibly damaging	Het
Phrf1	C	A	7: 140,841,787 (GRCm39)	Y715*	probably null	Het
Pigm	T	C	1: 172,204,354 (GRCm39)	V30A	probably benign	Het
Pkd1l2	A	T	8: 117,783,158 (GRCm39)	F721I	possibly damaging	Het
Pla2g15	A	G	8: 106,881,581 (GRCm39)	D70G	possibly damaging	Het
Prl7d1	A	T	13: 27,893,365 (GRCm39)	I182N	probably damaging	Het
Prss23	T	C	7: 89,159,922 (GRCm39)	K49R	probably benign	Het
Rps6	A	T	4: 86,775,046 (GRCm39)	D19E	probably benign	Het
Slco6d1	A	T	1: 98,435,292 (GRCm39)	H669L	probably benign	Het
Svil	G	T	18: 5,056,336 (GRCm39)	C490F	probably benign	Het
Tom1	T	C	8: 75,778,227 (GRCm39)	I103T	probably damaging	Het
Trim10	T	A	17: 37,187,791 (GRCm39)	Y336N	probably damaging	Het
Trim43c	G	T	9: 88,722,752 (GRCm39)	V133F	probably damaging	Het
Tvp23a	A	G	16: 10,246,551 (GRCm39)	L78P	possibly damaging	Het
Ugt2b38	T	A	5: 87,571,991 (GRCm39)	I14L	probably benign	Het
Unc5a	A	C	13: 55,150,737 (GRCm39)	M520L	probably damaging	Het
Vmn1r174	T	A	7: 23,453,337 (GRCm39)	M1K	probably null	Het
Vmn2r58	C	T	7: 41,486,913 (GRCm39)	G661R	possibly damaging	Het
Vps41	A	C	13: 19,025,413 (GRCm39)	D471A	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp462	T	A	4: 55,013,489 (GRCm39)	F1818L	possibly damaging	Het
Zp3	G	A	5: 136,009,135 (GRCm39)	E50K	possibly damaging	Het

Other mutations in Or9i1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Or9i1b	APN	19	13,896,892 (GRCm39)	nonsense	probably null
IGL03388:Or9i1b	APN	19	13,896,984 (GRCm39)	missense	probably damaging	0.99
R0143:Or9i1b	UTSW	19	13,896,614 (GRCm39)	missense	probably damaging	1.00
R0326:Or9i1b	UTSW	19	13,896,873 (GRCm39)	missense	probably benign	0.13
R0602:Or9i1b	UTSW	19	13,897,145 (GRCm39)	missense	probably benign	0.13
R0624:Or9i1b	UTSW	19	13,896,808 (GRCm39)	missense	probably damaging	0.99
R0947:Or9i1b	UTSW	19	13,896,535 (GRCm39)	missense	probably benign	0.00
R1472:Or9i1b	UTSW	19	13,897,208 (GRCm39)	missense	probably damaging	1.00
R2991:Or9i1b	UTSW	19	13,896,675 (GRCm39)	missense	probably damaging	1.00
R4296:Or9i1b	UTSW	19	13,896,717 (GRCm39)	missense	probably damaging	1.00
R4688:Or9i1b	UTSW	19	13,896,605 (GRCm39)	missense	probably benign	0.01
R4814:Or9i1b	UTSW	19	13,896,817 (GRCm39)	missense	possibly damaging	0.50
R4823:Or9i1b	UTSW	19	13,897,022 (GRCm39)	missense	probably benign	0.02
R5038:Or9i1b	UTSW	19	13,896,822 (GRCm39)	missense	possibly damaging	0.58
R5243:Or9i1b	UTSW	19	13,897,025 (GRCm39)	missense	probably damaging	1.00
R5323:Or9i1b	UTSW	19	13,896,980 (GRCm39)	missense	possibly damaging	0.95
R5542:Or9i1b	UTSW	19	13,896,411 (GRCm39)	missense	probably benign	0.04
R5918:Or9i1b	UTSW	19	13,897,139 (GRCm39)	missense	probably damaging	1.00
R6011:Or9i1b	UTSW	19	13,896,521 (GRCm39)	missense	probably benign	0.00
R6159:Or9i1b	UTSW	19	13,897,104 (GRCm39)	missense	probably damaging	1.00
R7535:Or9i1b	UTSW	19	13,896,449 (GRCm39)	missense	probably benign
R8262:Or9i1b	UTSW	19	13,897,226 (GRCm39)	missense	probably benign	0.02
R9190:Or9i1b	UTSW	19	13,896,967 (GRCm39)	missense	probably benign	0.23
R9459:Or9i1b	UTSW	19	13,896,674 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- ATGACCACCCCAAGTGGGAGATTC -3'
(R):5'- TGTGTCACTACAGGCCAGCTTCAG -3'

Sequencing Primer
(F):5'- TTGTCACCATGCTGGGAAAC -3'
(R):5'- CCAGCTTCAGCAGAGGTG -3'

Posted On

2014-05-14