Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Or8b44'

193205

Institutional Source

Beutler Lab

Gene Symbol

Or8b44

Ensembl Gene

ENSMUSG00000094810

Gene Name

olfactory receptor family 8 subfamily B member 44

Synonyms

MOR165-5, GA_x6K02T2PVTD-32204729-32205661, Olfr907

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38409967-38410899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38410334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 123 (Y123C)

Ref Sequence

ENSEMBL: ENSMUSP00000148894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052901] [ENSMUST00000214003] [ENSMUST00000214264]

AlphaFold

Q7TRC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000052901
AA Change: Y123C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051531
Gene: ENSMUSG00000094810
AA Change: Y123C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.4e-46	PFAM
Pfam:7tm_1	41	290	2.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214003
AA Change: Y123C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214264
AA Change: Y123C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,529 (GRCm39)	V401A	probably benign	Het
Abca4	G	A	3: 121,904,330 (GRCm39)	V794M	probably benign	Het
Abca4	A	T	3: 121,957,479 (GRCm39)	T772S	probably damaging	Het
Acox3	G	A	5: 35,765,683 (GRCm39)		probably null	Het
Adamts17	A	G	7: 66,797,463 (GRCm39)	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Als2	T	C	1: 59,214,150 (GRCm39)	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,469,215 (GRCm39)	F321I	probably benign	Het
Atp5pb	A	G	3: 105,858,905 (GRCm39)		probably null	Het
Bloc1s5	A	G	13: 38,803,060 (GRCm39)		probably benign	Het
Btbd9	T	C	17: 30,553,271 (GRCm39)	N397S	possibly damaging	Het
Cacna1d	A	G	14: 29,821,153 (GRCm39)	V1121A	probably benign	Het
Cad	G	A	5: 31,218,295 (GRCm39)	V460I	probably damaging	Het
Caprin2	A	T	6: 148,744,619 (GRCm39)	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,393,795 (GRCm39)	K686N	probably benign	Het
Ccnt2	T	C	1: 127,727,143 (GRCm39)	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,275,187 (GRCm39)		probably null	Het
Chrna7	A	G	7: 62,749,000 (GRCm39)	V494A	probably benign	Het
Clec2i	T	G	6: 128,872,388 (GRCm39)	Y198*	probably null	Het
Col22a1	A	G	15: 71,879,025 (GRCm39)	V44A	probably damaging	Het
Cspg4	T	A	9: 56,794,263 (GRCm39)	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,401,841 (GRCm39)		probably null	Het
Dlk1	G	T	12: 109,424,045 (GRCm39)	C102F	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Dscc1	T	A	15: 54,947,535 (GRCm39)	H215L	probably damaging	Het
Dus1l	C	G	11: 120,686,497 (GRCm39)	G15R	probably benign	Het
Eps8l1	G	T	7: 4,474,822 (GRCm39)	V268L	probably benign	Het
F2	A	C	2: 91,465,251 (GRCm39)	C104W	probably damaging	Het
F5	C	A	1: 164,020,104 (GRCm39)	Q860K	probably benign	Het
Fmn2	T	C	1: 174,329,832 (GRCm39)	L74P	unknown	Het
Frmd6	G	A	12: 70,940,396 (GRCm39)	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,365,659 (GRCm39)	S158A	probably damaging	Het
Galc	T	C	12: 98,200,525 (GRCm39)	N295S	probably damaging	Het
Gm6408	A	T	5: 146,419,132 (GRCm39)	N49I	probably damaging	Het
Grm1	T	A	10: 10,955,610 (GRCm39)	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,866 (GRCm39)	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,204,602 (GRCm39)	D59G	probably damaging	Het
Iars1	G	A	13: 49,876,553 (GRCm39)		probably null	Het
Ifi27l2a	C	T	12: 103,403,941 (GRCm39)	A127V	possibly damaging	Het
Ikbip	A	G	10: 90,932,343 (GRCm39)	N329S	probably damaging	Het
Ikbke	T	C	1: 131,193,614 (GRCm39)	T479A	probably benign	Het
Krt12	T	A	11: 99,306,886 (GRCm39)	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,743,025 (GRCm39)	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,704,401 (GRCm39)	V128A	probably benign	Het
Map4k4	C	A	1: 40,039,917 (GRCm39)		probably benign	Het
Mtmr7	T	C	8: 41,004,852 (GRCm39)	T575A	probably benign	Het
Myh13	G	A	11: 67,225,402 (GRCm39)	A256T	probably benign	Het
Napepld	A	G	5: 21,888,408 (GRCm39)	Y14H	probably benign	Het
Npr1	T	C	3: 90,366,644 (GRCm39)	T552A	probably damaging	Het
Nudt15	A	G	14: 73,759,087 (GRCm39)	F127S	probably benign	Het
Nwd2	T	A	5: 63,965,614 (GRCm39)	S1733T	probably benign	Het
Or11a4	T	C	17: 37,536,321 (GRCm39)	F102L	probably benign	Het
Or4c102	A	G	2: 88,422,780 (GRCm39)	I211V	probably benign	Het
Or4c10b	G	A	2: 89,711,473 (GRCm39)	G101E	probably damaging	Het
Or6z1	T	G	7: 6,504,440 (GRCm39)	I262L	probably benign	Het
Paqr7	A	T	4: 134,234,409 (GRCm39)	I89F	probably benign	Het
Pidd1	C	A	7: 141,019,543 (GRCm39)	V706L	probably benign	Het
Polr3c	A	T	3: 96,620,911 (GRCm39)	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,179,028 (GRCm39)	Y233H	probably damaging	Het
Psmc3	A	G	2: 90,886,340 (GRCm39)	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,733,368 (GRCm39)	I753L	probably benign	Het
Rad21	T	C	15: 51,841,566 (GRCm39)	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989 (GRCm39)	E479G	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,980,863 (GRCm39)	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,178,628 (GRCm39)	D1449G	probably damaging	Het
Sema4g	C	T	19: 44,990,044 (GRCm39)	R708*	probably null	Het
Septin9	T	C	11: 117,181,254 (GRCm39)	I18T	probably benign	Het
Serpinb6b	A	G	13: 33,162,041 (GRCm39)	E280G	probably damaging	Het
Slamf6	T	C	1: 171,770,154 (GRCm39)		probably benign	Het
Slc6a21	G	A	7: 44,937,158 (GRCm39)	W554*	probably null	Het
Slco1a4	A	C	6: 141,758,457 (GRCm39)	I518R	probably benign	Het
Stab1	T	A	14: 30,890,373 (GRCm39)	Q26L	probably benign	Het
Stox1	A	G	10: 62,503,744 (GRCm39)	F104L	probably damaging	Het
Suco	T	C	1: 161,662,518 (GRCm39)	K638E	possibly damaging	Het
Synpo	T	C	18: 60,735,856 (GRCm39)	K458E	probably damaging	Het
Szt2	A	T	4: 118,229,565 (GRCm39)	W2820R	unknown	Het
Tmtc1	C	A	6: 148,196,116 (GRCm39)	G499W	probably damaging	Het
Tonsl	A	C	15: 76,522,266 (GRCm39)	S242R	probably damaging	Het
Trpc4	G	T	3: 54,102,243 (GRCm39)	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,350,909 (GRCm39)	R1581C	probably benign	Het
Zfp27	A	G	7: 29,594,801 (GRCm39)	L388P	possibly damaging	Het

Other mutations in Or8b44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Or8b44	APN	9	38,410,171 (GRCm39)	missense	probably benign	0.04
IGL01960:Or8b44	APN	9	38,410,003 (GRCm39)	missense	probably damaging	1.00
IGL02612:Or8b44	APN	9	38,410,769 (GRCm39)	missense	probably benign	0.01
R0366:Or8b44	UTSW	9	38,410,450 (GRCm39)	missense	possibly damaging	0.94
R0400:Or8b44	UTSW	9	38,410,207 (GRCm39)	missense	possibly damaging	0.63
R0726:Or8b44	UTSW	9	38,410,418 (GRCm39)	missense	possibly damaging	0.72
R1511:Or8b44	UTSW	9	38,410,114 (GRCm39)	missense	probably benign
R1663:Or8b44	UTSW	9	38,410,868 (GRCm39)	missense	unknown
R4810:Or8b44	UTSW	9	38,410,620 (GRCm39)	nonsense	probably null
R4851:Or8b44	UTSW	9	38,410,319 (GRCm39)	missense	probably damaging	1.00
R4945:Or8b44	UTSW	9	38,410,585 (GRCm39)	missense	probably damaging	1.00
R5535:Or8b44	UTSW	9	38,410,294 (GRCm39)	missense	probably benign	0.10
R5576:Or8b44	UTSW	9	38,410,204 (GRCm39)	missense	probably damaging	1.00
R5618:Or8b44	UTSW	9	38,410,036 (GRCm39)	nonsense	probably null
R5829:Or8b44	UTSW	9	38,410,545 (GRCm39)	nonsense	probably null
R6249:Or8b44	UTSW	9	38,410,880 (GRCm39)	missense	unknown
R6353:Or8b44	UTSW	9	38,410,112 (GRCm39)	missense	probably benign	0.30
R6580:Or8b44	UTSW	9	38,410,319 (GRCm39)	missense	probably damaging	1.00
R6611:Or8b44	UTSW	9	38,410,534 (GRCm39)	missense	probably damaging	1.00
R6997:Or8b44	UTSW	9	38,410,607 (GRCm39)	missense	possibly damaging	0.94
R7407:Or8b44	UTSW	9	38,410,800 (GRCm39)	nonsense	probably null
R7420:Or8b44	UTSW	9	38,410,359 (GRCm39)	missense	probably benign	0.11
R7567:Or8b44	UTSW	9	38,410,369 (GRCm39)	missense	probably benign	0.00
R8382:Or8b44	UTSW	9	38,410,588 (GRCm39)	missense	probably damaging	0.98
X0028:Or8b44	UTSW	9	38,410,386 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GGGGTTAACAAACAGACCTGACCTAC -3'
(R):5'- TGGTCCATAGACTCAACTGAGGAGG -3'

Sequencing Primer
(F):5'- ACGTGATAGCTACATTGGGG -3'
(R):5'- ACATTCCTGCTGTGGAGC -3'

Posted On

2014-05-23