Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Or52z12'

588374

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

045677-MU

Accession Numbers

Essential gene?

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

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103233231-103234187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103234137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 303 (T303P)

Ref Sequence

ENSEMBL: ENSMUSP00000149045 (fasta)

Gene Model

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

AlphaFold

Q8VGA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048265
AA Change: T303P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040319
Gene: ENSMUSG00000073946
AA Change: T303P

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

probably damaging
Transcript: ENSMUST00000215755
AA Change: T303P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216516
AA Change: T303P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,128,383 (GRCm39)	H30Q	probably damaging	Het
A930009A15Rik	G	A	10: 115,417,894 (GRCm39)		probably null	Het
Abca7	T	C	10: 79,847,667 (GRCm39)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,997,325 (GRCm39)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,689,382 (GRCm39)	A169V	probably damaging	Het
Atat1	T	C	17: 36,219,999 (GRCm39)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,255 (GRCm39)		probably null	Het
Atp7b	T	G	8: 22,501,522 (GRCm39)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,548,246 (GRCm39)	V112A	possibly damaging	Het
Cfap107	T	A	4: 144,146,332 (GRCm39)	H107L	probably damaging	Het
Cobll1	T	C	2: 64,926,201 (GRCm39)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,968,331 (GRCm39)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,921,791 (GRCm39)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,172,051 (GRCm39)	R948*	probably null	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm39)	V78A	probably damaging	Het
Evc2	A	G	5: 37,544,200 (GRCm39)	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,966,391 (GRCm39)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,534,581 (GRCm39)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,596,747 (GRCm39)	L156*	probably null	Het
Gk5	A	T	9: 96,035,263 (GRCm39)		probably null	Het
Gm3573	A	G	14: 42,011,707 (GRCm39)	F8L	probably benign	Het
Gm9767	G	A	10: 25,954,838 (GRCm39)	C130Y	unknown	Het
Grip2	T	C	6: 91,765,393 (GRCm39)	T30A	probably benign	Het
Gskip	C	A	12: 105,665,156 (GRCm39)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 34,266,493 (GRCm39)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,656,626 (GRCm39)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,775,151 (GRCm39)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igdcc4	C	T	9: 65,041,040 (GRCm39)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,212,750 (GRCm39)		probably null	Het
Knl1	T	C	2: 118,925,614 (GRCm39)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,121,099 (GRCm39)	E518G	unknown	Het
Mlh1	A	G	9: 111,058,958 (GRCm39)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,120,897 (GRCm39)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,794 (GRCm39)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm39)	I33F	probably benign	Het
Mylk	C	T	16: 34,715,184 (GRCm39)	P504L	probably benign	Het
Ntrk3	C	T	7: 77,900,621 (GRCm39)	A573T	probably benign	Het
Obscn	G	T	11: 58,889,091 (GRCm39)	S7560R	unknown	Het
Or1m1	A	G	9: 18,666,178 (GRCm39)	F251S	possibly damaging	Het
Pde1c	T	C	6: 56,127,613 (GRCm39)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,119,457 (GRCm39)	H19L	probably benign	Het
Plce1	C	A	19: 38,513,196 (GRCm39)	A165E	probably benign	Het
Polr1a	T	C	6: 71,890,005 (GRCm39)	S75P	probably benign	Het
Psg21	T	C	7: 18,388,708 (GRCm39)	E128G	probably benign	Het
Radil	A	G	5: 142,492,368 (GRCm39)	I420T	probably damaging	Het
Radil	A	T	5: 142,480,550 (GRCm39)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,287,029 (GRCm39)	T175I	probably damaging	Het
Robo1	C	T	16: 72,360,626 (GRCm39)	P13S		Het
Slc18a2	C	A	19: 59,272,790 (GRCm39)	A364D	probably benign	Het
Snph	C	T	2: 151,436,506 (GRCm39)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,041,688 (GRCm39)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,833,997 (GRCm39)	D24G	probably benign	Het
Spag6	T	A	2: 18,736,773 (GRCm39)	D165E	possibly damaging	Het
Spata31	T	G	13: 65,069,406 (GRCm39)	L518R	probably damaging	Het
Spata31e3	T	C	13: 50,404,296 (GRCm39)	E2G	possibly damaging	Het
Sspo	G	A	6: 48,466,661 (GRCm39)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,163,941 (GRCm39)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,475,866 (GRCm39)	T40A	unknown	Het
Terb2	G	T	2: 122,016,956 (GRCm39)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,826,921 (GRCm39)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,772,458 (GRCm39)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,576,817 (GRCm39)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r48	C	A	6: 90,012,962 (GRCm39)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,321,506 (GRCm39)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,287,570 (GRCm39)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,303,688 (GRCm39)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,843,939 (GRCm39)	D992E	possibly 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
R7399:Or52z12	UTSW	7	103,233,588 (GRCm39)	missense	possibly damaging	0.78
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'- GAATTCCTTCTCGAGATGCCCG -3'
(R):5'- GCTCAAAATTGCTATAATTGCCCTC -3'

Sequencing Primer
(F):5'- CGACTCAAGGCTCTAGGTACTTG -3'
(R):5'- TGCCCTCAGAAATAATGACTTGC -3'

Posted On

2019-10-24