Mutagenetix > Incidental Mutation

Incidental Mutation 'R9016:Or52n4'

686005

Institutional Source

Beutler Lab

Gene Symbol

Or52n4

Ensembl Gene

ENSMUSG00000070421

Gene Name

olfactory receptor family 52 subfamily N member 4

Synonyms

MOR34-5, GA_x6K02T2PBJ9-7273558-7272587, Olfr658

MMRRC Submission

068846-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R9016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104292087-104296512 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 104293828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 250 (C250*)

Ref Sequence

ENSEMBL: ENSMUSP00000086711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089296] [ENSMUST00000210641]

AlphaFold

Q8VGV5

Predicted Effect

probably null
Transcript: ENSMUST00000089296
AA Change: C250*

SMART Domains

Protein: ENSMUSP00000086711
Gene: ENSMUSG00000070421
AA Change: C250*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	1.9e-108	PFAM
Pfam:7TM_GPCR_Srsx	39	256	3.1e-9	PFAM
Pfam:7tm_1	45	297	1.6e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000210641
AA Change: C248*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	C	A	18: 74,932,154 (GRCm39)	S264R	probably damaging	Het
Agap1	T	C	1: 89,694,188 (GRCm39)		probably null	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Apob	C	T	12: 8,035,408 (GRCm39)		silent	Het
Atg2a	G	C	19: 6,300,111 (GRCm39)	A640P	probably damaging	Het
AW209491	G	A	13: 14,812,193 (GRCm39)	V349M	probably damaging	Het
Bmpr2	C	T	1: 59,854,460 (GRCm39)	T103I	probably damaging	Het
Btaf1	A	C	19: 36,971,705 (GRCm39)	E1231D	probably benign	Het
Btbd7	T	C	12: 102,751,417 (GRCm39)	R1116G	probably damaging	Het
Catsperg1	A	T	7: 28,891,162 (GRCm39)	M627K	probably benign	Het
Cdk7	G	A	13: 100,854,126 (GRCm39)	T121I	probably benign	Het
Csmd3	T	A	15: 47,522,438 (GRCm39)	T1833S		Het
Dapk3	A	T	10: 81,028,266 (GRCm39)	R279W	probably damaging	Het
Dennd2b	A	C	7: 109,139,642 (GRCm39)	D645E	possibly damaging	Het
Dnah9	T	C	11: 65,998,856 (GRCm39)	E1064G	probably damaging	Het
Dner	T	C	1: 84,673,226 (GRCm39)	E75G	probably benign	Het
Dnmt1	T	C	9: 20,847,855 (GRCm39)	E229G	possibly damaging	Het
Fam171a1	G	A	2: 3,227,434 (GRCm39)	A856T	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fen1	A	T	19: 10,178,306 (GRCm39)	V46D	probably damaging	Het
Ffar3	T	C	7: 30,554,454 (GRCm39)	R289G	probably damaging	Het
Fhod3	G	A	18: 25,243,136 (GRCm39)	E1165K	possibly damaging	Het
Fras1	A	T	5: 96,783,923 (GRCm39)	H809L	probably damaging	Het
Gbp7	A	T	3: 142,249,870 (GRCm39)	E447V	probably benign	Het
Gja8	T	C	3: 96,827,521 (GRCm39)	D47G	probably damaging	Het
Gm5795	A	G	14: 14,883,574 (GRCm39)	K144E	probably benign	Het
Gm7298	A	C	6: 121,758,800 (GRCm39)	Q1139H	possibly damaging	Het
Gpa33	A	T	1: 165,992,730 (GRCm39)	Y281F	probably damaging	Het
H2-M10.5	G	A	17: 37,084,226 (GRCm39)	E63K	possibly damaging	Het
Hgf	T	C	5: 16,823,956 (GRCm39)	W718R	probably damaging	Het
Ifna5	C	G	4: 88,754,046 (GRCm39)	D95E	probably benign	Het
Ifnar2	T	C	16: 91,201,073 (GRCm39)	L438P	possibly damaging	Het
Ints1	T	C	5: 139,744,326 (GRCm39)	T1479A	probably benign	Het
Kif1a	C	T	1: 92,953,395 (GRCm39)	R1263H	probably damaging	Het
Ltbp2	T	C	12: 84,856,467 (GRCm39)	T686A	probably benign	Het
Med12l	A	T	3: 59,163,294 (GRCm39)	E1307V	probably damaging	Het
Mtcl1	T	A	17: 66,651,062 (GRCm39)	T1468S	probably damaging	Het
Myo9a	C	T	9: 59,775,427 (GRCm39)	Q1013*	probably null	Het
Nckap5	T	C	1: 126,623,491 (GRCm39)	M1V	probably null	Het
Nos3	G	T	5: 24,588,639 (GRCm39)	V1122F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Odad1	T	G	7: 45,585,988 (GRCm39)	C128W	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
P2rx6	T	A	16: 17,385,304 (GRCm39)	H132Q	possibly damaging	Het
Pakap	T	C	4: 57,637,857 (GRCm39)	C12R	unknown	Het
Pde6b	T	A	5: 108,536,592 (GRCm39)	M96K	possibly damaging	Het
Polq	T	A	16: 36,843,159 (GRCm39)	L231Q	probably damaging	Het
Pramel23	T	C	4: 143,423,899 (GRCm39)	I297V	possibly damaging	Het
Prrc2a	G	A	17: 35,378,844 (GRCm39)	T399I	unknown	Het
Rapsn	A	G	2: 90,867,172 (GRCm39)	D158G	probably damaging	Het
Rcor1	T	A	12: 111,047,933 (GRCm39)		probably benign	Het
Sema4d	G	T	13: 51,867,794 (GRCm39)	P186T	probably damaging	Het
Skic2	A	C	17: 35,063,640 (GRCm39)	L601R	probably damaging	Het
Slc4a7	G	A	14: 14,773,241 (GRCm38)	R737Q	probably damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Sox15	T	G	11: 69,546,529 (GRCm39)	Y111D	probably damaging	Het
Spen	C	T	4: 141,200,938 (GRCm39)	C2563Y	probably damaging	Het
Taf8	A	T	17: 47,807,527 (GRCm39)	D153E	probably damaging	Het
Tet3	G	A	6: 83,345,253 (GRCm39)	A1728V	probably damaging	Het
Tmem232	A	T	17: 65,737,778 (GRCm39)	D427E	probably benign	Het
Tmem53	T	C	4: 117,125,451 (GRCm39)	I188T	probably benign	Het
Tnc	T	G	4: 63,935,331 (GRCm39)	D535A	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Tnik	G	A	3: 28,692,544 (GRCm39)	G867R	probably damaging	Het
Uba3	A	T	6: 97,162,694 (GRCm39)	C367*	probably null	Het
Vmn1r235	G	T	17: 21,481,969 (GRCm39)	S98I	possibly damaging	Het
Vmn2r15	T	C	5: 109,442,109 (GRCm39)	E108G	probably benign	Het
Xrra1	T	A	7: 99,525,462 (GRCm39)	I127N	probably benign	Het
Zc3h18	G	A	8: 123,129,963 (GRCm39)	R447Q	unknown	Het
Zcwpw1	C	A	5: 137,798,340 (GRCm39)	P179Q	probably damaging	Het
Zfp526	C	T	7: 24,925,264 (GRCm39)	H508Y	probably damaging	Het
Zfp583	T	C	7: 6,320,404 (GRCm39)	K203E	probably benign	Het
Zfp979	A	G	4: 147,697,504 (GRCm39)	C402R	possibly damaging	Het
Zxdc	A	G	6: 90,359,254 (GRCm39)	T629A	probably damaging	Het

Other mutations in Or52n4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Or52n4	APN	7	104,293,687 (GRCm39)	nonsense	probably null
IGL01408:Or52n4	APN	7	104,294,136 (GRCm39)	missense	possibly damaging	0.61
IGL02612:Or52n4	APN	7	104,293,870 (GRCm39)	missense	probably benign	0.00
R0241:Or52n4	UTSW	7	104,294,450 (GRCm39)	missense	probably benign	0.00
R0241:Or52n4	UTSW	7	104,294,450 (GRCm39)	missense	probably benign	0.00
R1171:Or52n4	UTSW	7	104,294,204 (GRCm39)	missense	probably damaging	1.00
R1465:Or52n4	UTSW	7	104,294,153 (GRCm39)	missense	probably benign	0.13
R1465:Or52n4	UTSW	7	104,294,153 (GRCm39)	missense	probably benign	0.13
R1568:Or52n4	UTSW	7	104,293,977 (GRCm39)	missense	probably benign	0.28
R1866:Or52n4	UTSW	7	104,294,004 (GRCm39)	missense	probably benign	0.35
R4061:Or52n4	UTSW	7	104,293,680 (GRCm39)	nonsense	probably null
R4233:Or52n4	UTSW	7	104,294,195 (GRCm39)	missense	probably benign	0.15
R6080:Or52n4	UTSW	7	104,294,517 (GRCm39)	missense	probably benign	0.01
R6479:Or52n4	UTSW	7	104,294,333 (GRCm39)	missense	probably benign	0.02
R7222:Or52n4	UTSW	7	104,293,937 (GRCm39)	missense	probably damaging	1.00
R8064:Or52n4	UTSW	7	104,294,561 (GRCm39)	missense	probably benign
R8352:Or52n4	UTSW	7	104,293,736 (GRCm39)	missense	possibly damaging	0.88
R8452:Or52n4	UTSW	7	104,293,736 (GRCm39)	missense	possibly damaging	0.88
R9034:Or52n4	UTSW	7	104,293,835 (GRCm39)	missense	probably damaging	1.00
R9239:Or52n4	UTSW	7	104,293,746 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCGTGAGCTTTGGAATCC -3'
(R):5'- CAAGTTGTCCTGTGGCAATG -3'

Sequencing Primer
(F):5'- ACCGTGAGCTTTGGAATCCTTAGAC -3'
(R):5'- CAAGTTGTCCTGTGGCAATGTCAAG -3'

Posted On

2021-10-11