Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Or52z12'

574037

Institutional Source

Beutler Lab

Gene Symbol

Or52z12

Ensembl Gene

ENSMUSG00000073946

Gene Name

olfactory receptor family 52 subfamily Z member 12

Synonyms

GA_x6K02T2PBJ9-6306819-6307775, Olfr617, MOR31-10

MMRRC Submission

045481-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103233231-103234187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103233588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 120 (I120L)

Ref Sequence

ENSEMBL: ENSMUSP00000149045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048265] [ENSMUST00000215755] [ENSMUST00000216516]

AlphaFold

Q8VGA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048265
AA Change: I120L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040319
Gene: ENSMUSG00000073946
AA Change: I120L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	316	8.5e-109	PFAM
Pfam:7TM_GPCR_Srsx	41	225	2.3e-10	PFAM
Pfam:7tm_1	47	299	4.6e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215755
AA Change: I120L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216516
AA Change: I120L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

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

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,151,505 (GRCm39)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Adam7	A	T	14: 68,741,915 (GRCm39)		probably null	Het
Arfgef1	T	A	1: 10,251,122 (GRCm39)	T888S	probably benign	Het
AW554918	C	T	18: 25,302,117 (GRCm39)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,680,881 (GRCm39)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cby2	A	G	14: 75,830,077 (GRCm39)	S39P	probably benign	Het
Cdc25b	A	G	2: 131,036,574 (GRCm39)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,272,101 (GRCm39)	K1104R	probably benign	Het
Cep89	A	G	7: 35,137,803 (GRCm39)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,968,788 (GRCm39)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,503,422 (GRCm39)	L270P	probably damaging	Het
Dennd5b	G	T	6: 148,937,981 (GRCm39)	H639N	probably damaging	Het
Dnah11	T	G	12: 117,991,212 (GRCm39)	T2385P	probably benign	Het
Dnah11	T	C	12: 118,089,520 (GRCm39)	E1182G	probably damaging	Het
Dok7	T	C	5: 35,223,815 (GRCm39)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,820,458 (GRCm39)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,223,080 (GRCm39)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Hnmt	T	A	2: 23,893,892 (GRCm39)	T201S	probably benign	Het
Jup	G	T	11: 100,269,177 (GRCm39)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,527,057 (GRCm39)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,272,847 (GRCm39)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,461,424 (GRCm39)	S14T	probably benign	Het
Lama4	G	A	10: 38,923,944 (GRCm39)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,441,399 (GRCm39)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,614,901 (GRCm39)	D239N		Het
Mgam	T	A	6: 40,643,788 (GRCm39)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,201,890 (GRCm39)	N278K	probably damaging	Het
Msto1	A	G	3: 88,819,130 (GRCm39)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,169,573 (GRCm39)	S467G	unknown	Het
Mysm1	T	A	4: 94,849,964 (GRCm39)	I447L	probably benign	Het
Nav3	T	C	10: 109,688,795 (GRCm39)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,452,174 (GRCm39)	V376G	probably damaging	Het
Nup205	T	A	6: 35,191,611 (GRCm39)	I1032N	probably damaging	Het
Oog2	A	G	4: 143,921,851 (GRCm39)	K254E	probably benign	Het
Or10ac1	A	G	6: 42,515,662 (GRCm39)	F98S	possibly damaging	Het
Or5b98	A	G	19: 12,931,811 (GRCm39)	N286S	probably damaging	Het
Or5d41	A	T	2: 88,055,366 (GRCm39)	Y3*	probably null	Het
Or5g25	T	A	2: 85,477,768 (GRCm39)	D299V	possibly damaging	Het
Or5g27	A	G	2: 85,409,640 (GRCm39)	D19G	probably benign	Het
Or6b1	T	G	6: 42,815,680 (GRCm39)	Y288*	probably null	Het
Or6c6	A	T	10: 129,186,426 (GRCm39)		probably benign	Het
Or8h10	G	A	2: 86,808,501 (GRCm39)	T213I	probably benign	Het
Osbpl11	T	A	16: 33,056,649 (GRCm39)	D694E	probably benign	Het
Pcm1	T	A	8: 41,746,547 (GRCm39)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,276,697 (GRCm39)	M293V	probably benign	Het
Plcb3	T	C	19: 6,940,235 (GRCm39)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,361,687 (GRCm39)	F272S	probably damaging	Het
Pramel32	C	A	4: 88,546,202 (GRCm39)	R380L	probably benign	Het
Ptgdr	A	T	14: 45,095,689 (GRCm39)		probably null	Het
Ptprf	C	T	4: 118,083,720 (GRCm39)	V788I	probably benign	Het
Ralbp1	C	T	17: 66,161,143 (GRCm39)	V467I	probably benign	Het
Ralgds	A	C	2: 28,433,667 (GRCm39)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,320,610 (GRCm39)	D146G	probably damaging	Het
Reln	T	C	5: 22,256,365 (GRCm39)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,587,936 (GRCm39)		probably null	Het
Scn5a	A	T	9: 119,315,596 (GRCm39)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,611,725 (GRCm39)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,036,794 (GRCm39)	C538S	probably benign	Het
Stard6	T	C	18: 70,631,718 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,927,612 (GRCm39)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,174,911 (GRCm39)	V122A	probably damaging	Het
Tha1	A	G	11: 117,760,516 (GRCm39)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,815,554 (GRCm39)	I132N	possibly damaging	Het
Tnc	T	C	4: 63,938,894 (GRCm39)		probably benign	Het
Vmn1r42	T	C	6: 89,822,495 (GRCm39)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,464,765 (GRCm39)		probably null	Het
Wdfy4	A	C	14: 32,790,863 (GRCm39)	V2188G		Het
Zfp623	T	C	15: 75,819,247 (GRCm39)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,107,593 (GRCm39)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,079,327 (GRCm39)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,504,790 (GRCm39)	V536L	probably damaging	Het

Other mutations in Or52z12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Or52z12	APN	7	103,233,900 (GRCm39)	missense	probably damaging	1.00
IGL01355:Or52z12	APN	7	103,233,580 (GRCm39)	missense	probably damaging	1.00
IGL01411:Or52z12	APN	7	103,233,324 (GRCm39)	missense	probably damaging	1.00
IGL01412:Or52z12	APN	7	103,234,114 (GRCm39)	missense	probably damaging	1.00
IGL02379:Or52z12	APN	7	103,234,099 (GRCm39)	missense	possibly damaging	0.84
ANU23:Or52z12	UTSW	7	103,233,900 (GRCm39)	missense	probably damaging	1.00
IGL03054:Or52z12	UTSW	7	103,234,047 (GRCm39)	missense	probably benign	0.23
R0536:Or52z12	UTSW	7	103,233,468 (GRCm39)	missense	probably damaging	1.00
R4222:Or52z12	UTSW	7	103,233,966 (GRCm39)	missense	probably damaging	1.00
R4224:Or52z12	UTSW	7	103,233,966 (GRCm39)	missense	probably damaging	1.00
R5342:Or52z12	UTSW	7	103,234,035 (GRCm39)	missense	probably benign	0.05
R5587:Or52z12	UTSW	7	103,233,738 (GRCm39)	missense	probably benign	0.07
R5607:Or52z12	UTSW	7	103,233,506 (GRCm39)	nonsense	probably null
R5608:Or52z12	UTSW	7	103,233,506 (GRCm39)	nonsense	probably null
R6904:Or52z12	UTSW	7	103,233,727 (GRCm39)	missense	possibly damaging	0.83
R6929:Or52z12	UTSW	7	103,233,651 (GRCm39)	missense	probably damaging	0.98
R7607:Or52z12	UTSW	7	103,234,137 (GRCm39)	missense	probably damaging	0.97
R7771:Or52z12	UTSW	7	103,233,297 (GRCm39)	missense	probably benign	0.33
Z1177:Or52z12	UTSW	7	103,234,154 (GRCm39)	missense	probably benign
Z1177:Or52z12	UTSW	7	103,233,906 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CTGATCATCACTGAACGCAGC -3'
(R):5'- GTTCACAGTATGAGTGACGAATGG -3'

Sequencing Primer
(F):5'- TCACTGAACGCAGCCTTCATG -3'
(R):5'- GAATGGTGCTCTTCCCACAATAGG -3'

Posted On

2019-09-13