Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Or5b94'

668971

Institutional Source

Beutler Lab

Gene Symbol

Or5b94

Ensembl Gene

ENSMUSG00000044441

Gene Name

olfactory receptor family 5 subfamily B member 94

Synonyms

Olfr1442, GA_x6K02T2RE5P-3000589-3001527, MOR202-9

MMRRC Submission

068553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12651543-12652607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12652246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 226 (M226V)

Ref Sequence

ENSEMBL: ENSMUSP00000147051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049724] [ENSMUST00000057924] [ENSMUST00000207341] [ENSMUST00000208494] [ENSMUST00000208657] [ENSMUST00000213486] [ENSMUST00000215134]

AlphaFold

Q0VEV7

Predicted Effect

probably benign
Transcript: ENSMUST00000049724

SMART Domains

Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.4e-50	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1.5e-6	PFAM
Pfam:7tm_1	39	288	8.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057924
AA Change: M226V

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: M226V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	7.9e-49	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1.6e-6	PFAM
Pfam:7tm_1	39	288	1.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207341
AA Change: M226V

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000208494
AA Change: M226V

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000208657
AA Change: M226V

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000213486

Predicted Effect

probably benign
Transcript: ENSMUST00000215134

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,450,515 (GRCm39)	W30R	probably damaging	Het
Abca3	A	G	17: 24,627,199 (GRCm39)	D1555G	probably benign	Het
Anapc1	T	C	2: 128,483,373 (GRCm39)	T1241A	probably damaging	Het
Ano5	G	A	7: 51,243,519 (GRCm39)	V881I	probably benign	Het
Appl1	G	A	14: 26,662,212 (GRCm39)	S490L	probably benign	Het
Asxl3	A	G	18: 22,567,664 (GRCm39)	T81A	probably benign	Het
Bclaf1	T	C	10: 20,209,184 (GRCm39)	S754P	possibly damaging	Het
Bicra	G	T	7: 15,723,113 (GRCm39)	Q135K	probably benign	Het
Cad	T	C	5: 31,233,605 (GRCm39)	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,168,683 (GRCm39)	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,462,995 (GRCm39)	I59T	probably damaging	Het
Ccr6	C	T	17: 8,475,398 (GRCm39)	T201M	probably benign	Het
Cd5	A	G	19: 10,702,556 (GRCm39)	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,362 (GRCm39)	D1017E	probably damaging	Het
Cfap298	T	C	16: 90,727,945 (GRCm39)	K82E	probably benign	Het
Cntnap4	A	T	8: 113,484,228 (GRCm39)	D427V	probably damaging	Het
Col4a4	T	A	1: 82,433,455 (GRCm39)	N1496I	unknown	Het
Crybg3	A	G	16: 59,375,291 (GRCm39)	Y274H	probably damaging	Het
Cubn	C	A	2: 13,388,770 (GRCm39)	S1479I	probably damaging	Het
Diras2	A	T	13: 52,662,143 (GRCm39)	C55S	probably damaging	Het
Dleu7	G	A	14: 62,530,279 (GRCm39)	R41C	probably benign	Het
Dync2i1	T	C	12: 116,171,321 (GRCm39)	T972A	probably benign	Het
Efcab3	A	G	11: 104,672,072 (GRCm39)	T1464A	probably benign	Het
Exo5	A	G	4: 120,779,193 (GRCm39)	I224T	probably damaging	Het
Fcho1	T	C	8: 72,162,277 (GRCm39)	I774V	possibly damaging	Het
Gclm	T	G	3: 122,059,972 (GRCm39)	S251A	possibly damaging	Het
Gm13889	T	C	2: 93,787,327 (GRCm39)	Q49R	unknown	Het
Gm35315	T	A	5: 110,228,392 (GRCm39)	H18L	probably benign	Het
Gm9949	G	A	18: 62,317,043 (GRCm39)	G65R	unknown	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Gria4	C	A	9: 4,424,347 (GRCm39)	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351 (GRCm39)	Y838S	probably damaging	Het
Hrh3	A	G	2: 179,743,149 (GRCm39)	W160R	probably damaging	Het
Htr4	G	A	18: 62,570,763 (GRCm39)	A273T	probably damaging	Het
Lig3	G	T	11: 82,685,376 (GRCm39)	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,172,207 (GRCm39)	V1594E		Het
Map3k10	A	T	7: 27,367,780 (GRCm39)	V286D	probably damaging	Het
Map4k4	T	A	1: 40,015,910 (GRCm39)	V117E	unknown	Het
Mdga1	C	T	17: 30,061,348 (GRCm39)	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363 (GRCm39)	L248F	possibly damaging	Het
Ncaph	T	C	2: 126,963,096 (GRCm39)	D379G	possibly damaging	Het
Neb	A	G	2: 52,037,246 (GRCm39)	V7064A	probably benign	Het
Neb	G	A	2: 52,102,563 (GRCm39)	T4570M	probably benign	Het
Npy5r	G	T	8: 67,134,274 (GRCm39)	T173K	probably damaging	Het
Or52a33	A	T	7: 103,288,822 (GRCm39)	I175N	probably damaging	Het
Or5b97	A	T	19: 12,878,828 (GRCm39)	F105L	possibly damaging	Het
Or5g25	A	T	2: 85,478,330 (GRCm39)	C112S	possibly damaging	Het
Or8u10	A	T	2: 85,915,518 (GRCm39)	I201N	probably damaging	Het
Oxsm	A	G	14: 16,242,631 (GRCm38)	I46T	possibly damaging	Het
Pcdha1	A	T	18: 37,064,076 (GRCm39)	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,875,975 (GRCm39)	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474 (GRCm39)	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,546,587 (GRCm39)	S304C	probably damaging	Het
Pramel11	A	T	4: 143,623,762 (GRCm39)	N137K	probably benign	Het
Ptprd	A	T	4: 75,959,629 (GRCm39)	F279I	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rest	G	A	5: 77,429,389 (GRCm39)	G603R	probably benign	Het
Rgs17	A	T	10: 5,868,194 (GRCm39)	L9M	probably benign	Het
Rtp1	A	G	16: 23,250,133 (GRCm39)	Y166C	probably damaging	Het
Sec24b	C	A	3: 129,798,653 (GRCm39)	R572I	probably damaging	Het
Setd1a	G	T	7: 127,385,774 (GRCm39)	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,859,235 (GRCm39)	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Stat4	T	A	1: 52,111,096 (GRCm39)	M181K	probably benign	Het
Stk16	A	G	1: 75,188,682 (GRCm39)	E67G	probably benign	Het
Supv3l1	A	G	10: 62,268,234 (GRCm39)	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,674,361 (GRCm39)	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,473,120 (GRCm39)		probably benign	Het
Tpr	T	A	1: 150,293,772 (GRCm39)	I922N	probably damaging	Het
Uaca	G	T	9: 60,778,347 (GRCm39)	L911F	probably damaging	Het
Ubn1	A	T	16: 4,881,567 (GRCm39)	I200L	possibly damaging	Het
Ush2a	A	G	1: 188,643,574 (GRCm39)	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678 (GRCm39)	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,306,080 (GRCm39)	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,508,234 (GRCm39)	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,155,742 (GRCm39)	N15K	probably benign	Het
Wdr46	T	A	17: 34,167,826 (GRCm39)	I513N	probably damaging	Het
Zfp788	A	G	7: 41,297,840 (GRCm39)	N159D	probably benign	Het

Other mutations in Or5b94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Or5b94	APN	19	12,651,924 (GRCm39)	nonsense	probably null
IGL00969:Or5b94	APN	19	12,651,605 (GRCm39)	missense	probably damaging	1.00
IGL01788:Or5b94	APN	19	12,652,442 (GRCm39)	missense	probably damaging	0.97
IGL02081:Or5b94	APN	19	12,652,180 (GRCm39)	missense	probably benign
IGL02335:Or5b94	APN	19	12,651,602 (GRCm39)	missense	probably damaging	0.97
IGL02383:Or5b94	APN	19	12,651,899 (GRCm39)	missense	probably benign	0.01
IGL02389:Or5b94	APN	19	12,651,899 (GRCm39)	missense	probably benign	0.00
IGL02484:Or5b94	APN	19	12,652,223 (GRCm39)	missense	possibly damaging	0.56
IGL02682:Or5b94	APN	19	12,652,033 (GRCm39)	missense	probably damaging	0.98
IGL03136:Or5b94	APN	19	12,652,331 (GRCm39)	missense	probably damaging	0.99
R0109:Or5b94	UTSW	19	12,652,224 (GRCm39)	missense	probably benign	0.02
R0109:Or5b94	UTSW	19	12,652,224 (GRCm39)	missense	probably benign	0.02
R0112:Or5b94	UTSW	19	12,652,121 (GRCm39)	missense	probably benign
R4005:Or5b94	UTSW	19	12,652,210 (GRCm39)	missense	probably benign	0.05
R4346:Or5b94	UTSW	19	12,651,592 (GRCm39)	missense	probably benign	0.03
R4611:Or5b94	UTSW	19	12,652,318 (GRCm39)	missense	probably damaging	1.00
R5858:Or5b94	UTSW	19	12,651,743 (GRCm39)	missense	probably damaging	1.00
R5944:Or5b94	UTSW	19	12,652,283 (GRCm39)	missense	probably damaging	1.00
R6406:Or5b94	UTSW	19	12,652,184 (GRCm39)	missense	probably benign	0.21
R6923:Or5b94	UTSW	19	12,652,409 (GRCm39)	missense	possibly damaging	0.94
R7710:Or5b94	UTSW	19	12,652,340 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5b94	UTSW	19	12,651,674 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTCCTCCATCCACACTGGG -3'
(R):5'- CCATAGGGTTAAGCATGGGG -3'

Sequencing Primer
(F):5'- ACTGGGGACACATTCAGGCTTTC -3'
(R):5'- GGATGACCATGGTGTAGAACAC -3'

Posted On

2021-04-30