Mutagenetix > Incidental Mutation

Incidental Mutation 'R7771:Or52z12'

598571

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

045827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103233231-103234187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103233297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 23 (I23V)

Ref Sequence

ENSEMBL: ENSMUSP00000149045 (fasta)

Gene Model

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

AlphaFold

Q8VGA1

Predicted Effect

probably benign
Transcript: ENSMUST00000048265
AA Change: I23V

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040319
Gene: ENSMUSG00000073946
AA Change: I23V

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 benign
Transcript: ENSMUST00000215755
AA Change: I23V

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000216516
AA Change: I23V

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,069,535 (GRCm39)	A1287T	probably damaging	Het
Ahnak	A	G	19: 8,992,411 (GRCm39)	K4565R	probably damaging	Het
Asb13	A	G	13: 3,699,463 (GRCm39)	Y221C	probably damaging	Het
BB014433	C	T	8: 15,092,395 (GRCm39)	V153M	probably damaging	Het
Brip1	T	C	11: 85,952,850 (GRCm39)	E977G	probably benign	Het
C3	T	A	17: 57,522,797 (GRCm39)	D1029V	probably damaging	Het
Ccdc116	T	C	16: 16,957,455 (GRCm39)	E568G	probably benign	Het
Cdhr2	T	C	13: 54,866,088 (GRCm39)	V296A	probably damaging	Het
Cenpe	A	G	3: 134,946,702 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,491,753 (GRCm39)	V357A	probably damaging	Het
Coa3	A	T	11: 101,169,641 (GRCm39)	M38K	possibly damaging	Het
Cyp2d26	T	C	15: 82,675,947 (GRCm39)	N255S	probably benign	Het
Cysrt1	T	C	2: 25,129,237 (GRCm39)	S92G	probably benign	Het
D030056L22Rik	A	G	19: 18,690,842 (GRCm39)	E52G	possibly damaging	Het
Derl1	T	C	15: 57,743,436 (GRCm39)	D97G	probably damaging	Het
Ebf3	A	G	7: 136,911,092 (GRCm39)	Y141H	probably damaging	Het
Eci1	T	A	17: 24,652,125 (GRCm39)	L49*	probably null	Het
Gzma	C	T	13: 113,234,829 (GRCm39)	C54Y	probably damaging	Het
Hydin	A	G	8: 111,291,717 (GRCm39)	N3403S	probably damaging	Het
Ide	T	C	19: 37,275,525 (GRCm39)	N495D		Het
Ighv1-23	T	A	12: 114,728,356 (GRCm39)	Q22L	probably benign	Het
Itgb2l	A	G	16: 96,228,172 (GRCm39)	C444R	probably damaging	Het
Kcnj3	C	A	2: 55,336,949 (GRCm39)	H272N	probably damaging	Het
Lrp6	C	T	6: 134,439,579 (GRCm39)	C1218Y	probably damaging	Het
Lrrd1	T	C	5: 3,916,476 (GRCm39)	M831T	possibly damaging	Het
Map3k11	A	G	19: 5,740,636 (GRCm39)	E121G	probably damaging	Het
Mzt1	A	T	14: 99,278,012 (GRCm39)	I52N	probably damaging	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or7e166	T	A	9: 19,624,767 (GRCm39)	F215I	probably benign	Het
Pcdhb17	A	C	18: 37,619,962 (GRCm39)	Y584S	possibly damaging	Het
Per3	A	T	4: 151,110,657 (GRCm39)	D380E	probably damaging	Het
Per3	A	T	4: 151,125,902 (GRCm39)	L139Q	probably damaging	Het
Pgap6	T	C	17: 26,341,047 (GRCm39)	Y717H	probably damaging	Het
Pik3cg	T	C	12: 32,254,013 (GRCm39)	H658R	probably benign	Het
Pitpnm3	G	A	11: 71,952,314 (GRCm39)	Q626*	probably null	Het
Polr3e	T	C	7: 120,539,801 (GRCm39)	V542A	probably benign	Het
Rgs22	T	A	15: 36,050,224 (GRCm39)	H866L	possibly damaging	Het
Rnf150	A	G	8: 83,590,832 (GRCm39)	E65G	probably benign	Het
Sema3f	C	A	9: 107,569,625 (GRCm39)	R100L	possibly damaging	Het
Skic3	A	G	13: 76,283,149 (GRCm39)	H792R	probably benign	Het
Smim18	T	C	8: 34,232,370 (GRCm39)	D83G	possibly damaging	Het
Snx13	T	A	12: 35,174,527 (GRCm39)	D685E	probably benign	Het
Stat5a	A	C	11: 100,754,045 (GRCm39)	N125T	probably benign	Het
Stk24	T	C	14: 121,575,045 (GRCm39)	E21G	probably damaging	Het
Tasor	A	G	14: 27,189,516 (GRCm39)	T923A	probably damaging	Het
Tlr3	C	T	8: 45,856,076 (GRCm39)	V35I	probably benign	Het
Tmprss11b	A	T	5: 86,809,554 (GRCm39)		probably null	Het
Trpm2	T	C	10: 77,768,013 (GRCm39)	I829V	probably benign	Het
Ttc39a	T	C	4: 109,288,647 (GRCm39)	Y276H	probably damaging	Het
Vmn2r98	T	A	17: 19,287,460 (GRCm39)		probably null	Het
Wdr73	G	A	7: 80,542,975 (GRCm39)	A211V	probably benign	Het
Zc3h4	T	C	7: 16,163,824 (GRCm39)	V673A	unknown	Het
Zfp382	A	G	7: 29,832,760 (GRCm39)	H137R	probably damaging	Het
Zp2	T	G	7: 119,742,865 (GRCm39)	D89A	probably damaging	Het
Zpld2	A	T	4: 133,922,754 (GRCm39)	N526K	probably benign	Het
Zranb3	A	C	1: 127,960,605 (GRCm39)	Y220D	probably damaging	Het
Zswim8	G	A	14: 20,763,048 (GRCm39)	V316I	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
R7399:Or52z12	UTSW	7	103,233,588 (GRCm39)	missense	possibly damaging	0.78
R7607:Or52z12	UTSW	7	103,234,137 (GRCm39)	missense	probably damaging	0.97
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'- GCCAACTGCAAGTATTCACATTG -3'
(R):5'- CAGCTCTAAACCAGAAGATTGC -3'

Sequencing Primer
(F):5'- GTCCAGAACTAGTAGGCA -3'
(R):5'- CCAGAAGATTGCTAACATTTTTGGTG -3'

Posted On

2019-11-26