Mutagenetix > Incidental Mutation

Incidental Mutation 'R7558:Or52n4b'

584887

Institutional Source

Beutler Lab

Gene Symbol

Or52n4b

Ensembl Gene

ENSMUSG00000060759

Gene Name

olfactory receptor family 52 subfamily N member 4B

Synonyms

MOR34-9, MOR34-12, GA_x6K02T2PBJ9-10874315-10875286, MOR34-8P, Olfr503, Olfr1548, MOR34-9

MMRRC Submission

045625-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7558 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108143734-108144705 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to G at 108143928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 65 (Y65*)

Ref Sequence

ENSEMBL: ENSMUSP00000077296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078162] [ENSMUST00000211693]

AlphaFold

Q7TRU8

Predicted Effect

probably null
Transcript: ENSMUST00000078162
AA Change: Y65*

SMART Domains

Protein: ENSMUSP00000077296
Gene: ENSMUSG00000060759
AA Change: Y65*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	3e-103	PFAM
Pfam:7TM_GPCR_Srsx	39	268	2.4e-7	PFAM
Pfam:7tm_1	45	297	9.2e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000211693
AA Change: Y63*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	G	T	11: 23,466,285 (GRCm39)		probably null	Het
Adgrg6	A	T	10: 14,307,351 (GRCm39)	M817K	probably damaging	Het
Adh6b	T	A	3: 138,058,297 (GRCm39)	D53E	probably benign	Het
Ap3d1	A	G	10: 80,558,755 (GRCm39)	V283A	possibly damaging	Het
Arhgap21	A	G	2: 20,860,421 (GRCm39)	Y1329H	probably damaging	Het
B3gnt9	T	C	8: 105,981,304 (GRCm39)	Y28C	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Chrd	T	A	16: 20,557,304 (GRCm39)	V641E	probably damaging	Het
Clvs2	A	T	10: 33,419,460 (GRCm39)	I198N	probably damaging	Het
Cplane1	C	T	15: 8,254,851 (GRCm39)	R13C	unknown	Het
Dbndd2	T	C	2: 164,332,136 (GRCm39)	S120P	probably benign	Het
Dsg2	G	A	18: 20,727,291 (GRCm39)	V613I	probably benign	Het
Dsp	A	G	13: 38,352,742 (GRCm39)	M207V	probably benign	Het
Fignl2	T	C	15: 100,952,264 (GRCm39)	E6G	probably damaging	Het
Fmod	A	G	1: 133,968,731 (GRCm39)	Y257C	probably benign	Het
Foxk2	T	C	11: 121,178,884 (GRCm39)	S239P	probably benign	Het
Fstl5	C	T	3: 76,337,092 (GRCm39)	T217I	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm45140	G	A	6: 87,798,511 (GRCm39)	S34F		Het
H2-Q6	A	G	17: 35,644,595 (GRCm39)	E128G	probably benign	Het
Hmmr	A	G	11: 40,624,156 (GRCm39)	F11L	probably damaging	Het
Igfbpl1	G	T	4: 45,813,497 (GRCm39)	N239K	probably damaging	Het
Itpr2	G	T	6: 146,292,363 (GRCm39)	D443E	probably damaging	Het
Kcnt2	A	T	1: 140,450,928 (GRCm39)	I736F	probably damaging	Het
Kctd11	A	T	11: 69,770,416 (GRCm39)	H207Q	probably benign	Het
Kif16b	A	T	2: 142,600,746 (GRCm39)	D462E	probably damaging	Het
Kif5a	G	A	10: 127,083,948 (GRCm39)	T81I	probably damaging	Het
Lemd2	C	A	17: 27,423,137 (GRCm39)	A86S	probably benign	Het
Lrp1b	T	C	2: 41,231,948 (GRCm39)	D1174G		Het
Lrrc8b	G	T	5: 105,629,577 (GRCm39)	W641L	probably damaging	Het
Malt1	T	C	18: 65,595,905 (GRCm39)	C438R	probably damaging	Het
Marchf8	T	C	6: 116,380,526 (GRCm39)	F126L	possibly damaging	Het
Nalcn	C	A	14: 123,723,797 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,247,088 (GRCm39)	T679S	probably benign	Het
Or5b3	T	A	19: 13,388,355 (GRCm39)	C141S	probably damaging	Het
Otog	C	A	7: 45,952,584 (GRCm39)	P419Q	probably damaging	Het
Pabpc4	T	G	4: 123,188,413 (GRCm39)	S341A	possibly damaging	Het
Pikfyve	T	A	1: 65,311,782 (GRCm39)	H2006Q	probably benign	Het
Ppp2r5e	A	T	12: 75,511,766 (GRCm39)	V319D	probably damaging	Het
Ptk2b	T	C	14: 66,391,628 (GRCm39)	S969G	possibly damaging	Het
Rasal2	G	A	1: 157,003,406 (GRCm39)	R436C	probably damaging	Het
Rpap1	A	T	2: 119,601,735 (GRCm39)	F742I	probably benign	Het
Ryr2	G	A	13: 11,814,711 (GRCm39)	T687M	probably damaging	Het
Sec16a	A	T	2: 26,329,746 (GRCm39)	F7L		Het
Slc14a2	A	G	18: 78,235,334 (GRCm39)	I143T	probably benign	Het
Slc22a26	T	A	19: 7,762,651 (GRCm39)	M430L	possibly damaging	Het
Smarcc1	C	A	9: 109,976,184 (GRCm39)	T157K	probably damaging	Het
Tmem87a	A	G	2: 120,204,991 (GRCm39)	I375T	probably benign	Het
Tmprss15	T	C	16: 78,800,302 (GRCm39)	I609V	possibly damaging	Het
Tnk2	C	A	16: 32,498,903 (GRCm39)	Q739K	probably benign	Het
Trio	T	A	15: 27,831,480 (GRCm39)	I1340F	possibly damaging	Het
Trpm6	T	C	19: 18,756,029 (GRCm39)	F91L	probably damaging	Het
Vax1	T	C	19: 59,158,416 (GRCm39)	T16A	unknown	Het
Vps13d	T	G	4: 144,881,150 (GRCm39)	H1481P		Het
Zbtb7a	A	G	10: 80,984,269 (GRCm39)	*570W	probably null	Het

Other mutations in Or52n4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Or52n4b	APN	7	108,143,933 (GRCm39)	nonsense	probably null
IGL02031:Or52n4b	APN	7	108,144,137 (GRCm39)	missense	probably benign	0.03
IGL02426:Or52n4b	APN	7	108,144,187 (GRCm39)	missense	probably benign	0.01
IGL02502:Or52n4b	APN	7	108,143,846 (GRCm39)	missense	probably damaging	1.00
IGL03208:Or52n4b	APN	7	108,144,326 (GRCm39)	missense	probably benign	0.02
R0507:Or52n4b	UTSW	7	108,144,292 (GRCm39)	missense	probably damaging	0.98
R0967:Or52n4b	UTSW	7	108,143,996 (GRCm39)	missense	probably damaging	1.00
R1181:Or52n4b	UTSW	7	108,144,509 (GRCm39)	missense	probably benign	0.00
R1501:Or52n4b	UTSW	7	108,143,782 (GRCm39)	missense	probably benign
R1596:Or52n4b	UTSW	7	108,144,290 (GRCm39)	missense	possibly damaging	0.90
R1657:Or52n4b	UTSW	7	108,144,584 (GRCm39)	missense	possibly damaging	0.50
R1708:Or52n4b	UTSW	7	108,143,781 (GRCm39)	missense	probably benign	0.04
R2215:Or52n4b	UTSW	7	108,144,095 (GRCm39)	missense	probably damaging	1.00
R4131:Or52n4b	UTSW	7	108,143,744 (GRCm39)	nonsense	probably null
R4772:Or52n4b	UTSW	7	108,144,092 (GRCm39)	missense	probably damaging	0.98
R5009:Or52n4b	UTSW	7	108,144,055 (GRCm39)	missense	probably benign	0.01
R5297:Or52n4b	UTSW	7	108,144,611 (GRCm39)	missense	probably damaging	1.00
R5788:Or52n4b	UTSW	7	108,144,551 (GRCm39)	missense	probably damaging	0.97
R5944:Or52n4b	UTSW	7	108,144,484 (GRCm39)	missense	possibly damaging	0.90
R6522:Or52n4b	UTSW	7	108,144,202 (GRCm39)	missense	probably benign	0.09
R7045:Or52n4b	UTSW	7	108,144,452 (GRCm39)	missense	probably damaging	1.00
R7339:Or52n4b	UTSW	7	108,144,107 (GRCm39)	missense	probably damaging	1.00
R7585:Or52n4b	UTSW	7	108,144,598 (GRCm39)	missense	probably damaging	1.00
R9209:Or52n4b	UTSW	7	108,144,664 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCACAGTGGGATTAGCATG -3'
(R):5'- ACATAGTGGTCCAGAGCCATG -3'

Sequencing Primer
(F):5'- AGCATGGTCATGTCAGCG -3'
(R):5'- GCCATGAGCATGAGCACTC -3'

Posted On

2019-10-17