Mutagenetix > Incidental Mutation

Incidental Mutation 'R0531:Or6z5'

49155

Institutional Source

Beutler Lab

Gene Symbol

Or6z5

Ensembl Gene

ENSMUSG00000054938

Gene Name

olfactory receptor family 6 subfamily Z member 5

Synonyms

Olfr1346, GA_x6K02T2QGBW-3203957-3204898, MOR103-6

MMRRC Submission

038723-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R0531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6477111-6478052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6477234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 42 (I42F)

Ref Sequence

ENSEMBL: ENSMUSP00000150503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056144] [ENSMUST00000207658] [ENSMUST00000209866] [ENSMUST00000215302]

AlphaFold

Q8VGH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056144
AA Change: I42F

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050553
Gene: ENSMUSG00000054938
AA Change: I42F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	7.2e-44	PFAM
Pfam:7tm_1	45	295	5.4e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207658
AA Change: I42F

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000209866

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215302
AA Change: I42F

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (69/69)

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
4930590J08Rik	A	G	6: 91,892,127 (GRCm39)	N130D	probably benign	Het
Acot6	C	A	12: 84,148,075 (GRCm39)	D110E	probably benign	Het
Agrn	T	A	4: 156,263,891 (GRCm39)	N124I	probably benign	Het
Astn1	G	T	1: 158,427,959 (GRCm39)	G710V	probably damaging	Het
Bcar3	T	C	3: 122,220,148 (GRCm39)	V15A	probably benign	Het
Best3	T	C	10: 116,840,280 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,090,974 (GRCm39)	I743N	probably damaging	Het
Cenpa	T	C	5: 30,829,837 (GRCm39)	F39L	possibly damaging	Het
Cfap44	A	T	16: 44,221,789 (GRCm39)	M1L	probably benign	Het
Chrnd	A	G	1: 87,122,541 (GRCm39)	I107M	probably damaging	Het
Col11a2	A	G	17: 34,277,351 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,889,787 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,974,781 (GRCm39)	Y404C	probably damaging	Het
Fam118a	T	C	15: 84,932,633 (GRCm39)	I125T	possibly damaging	Het
Fam161a	G	A	11: 22,970,298 (GRCm39)	E159K	possibly damaging	Het
Fkbp5	A	T	17: 28,657,003 (GRCm39)	H71Q	probably benign	Het
Frem2	A	T	3: 53,427,375 (GRCm39)	Y2926N	probably damaging	Het
Gap43	A	T	16: 42,112,691 (GRCm39)	D23E	probably damaging	Het
Glt8d1	T	C	14: 30,728,461 (GRCm39)	F3S	probably benign	Het
Gm11555	C	T	11: 99,540,844 (GRCm39)		probably benign	Het
Gtpbp1	G	A	15: 79,604,292 (GRCm39)	G667S	probably damaging	Het
H2-T24	A	C	17: 36,326,463 (GRCm39)	S145R	probably benign	Het
Inpp5b	A	T	4: 124,689,249 (GRCm39)	N843I	probably damaging	Het
Jak3	C	T	8: 72,139,620 (GRCm39)		probably benign	Het
Krt8	T	A	15: 101,909,883 (GRCm39)	M174L	probably benign	Het
Ktn1	C	T	14: 47,901,398 (GRCm39)	T52I	probably damaging	Het
Lrp4	T	C	2: 91,305,523 (GRCm39)		probably benign	Het
Nefh	G	A	11: 4,890,240 (GRCm39)	A793V	probably damaging	Het
Niban1	T	C	1: 151,593,835 (GRCm39)	V840A	probably benign	Het
Notch1	A	G	2: 26,356,584 (GRCm39)	S1678P	probably benign	Het
Notch2	C	T	3: 98,009,767 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or10d4c	A	G	9: 39,558,168 (GRCm39)	T49A	probably benign	Het
Or2ab1	A	G	11: 58,488,674 (GRCm39)	I151V	probably benign	Het
Or5ac25	T	A	16: 59,182,171 (GRCm39)	N137Y	probably damaging	Het
Or8g17	G	T	9: 38,930,472 (GRCm39)	R122S	probably damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pak4	T	A	7: 28,267,479 (GRCm39)	I62F	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,371 (GRCm39)	F506I	probably damaging	Het
Per1	A	T	11: 68,995,016 (GRCm39)	D632V	probably damaging	Het
Plec	A	G	15: 76,061,498 (GRCm39)	M2678T	probably benign	Het
Plg	A	G	17: 12,630,334 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,627,048 (GRCm39)	S304R	probably damaging	Het
Prr27	T	C	5: 87,990,537 (GRCm39)	F50L	probably benign	Het
Prune2	T	C	19: 16,984,117 (GRCm39)	L159P	probably damaging	Het
Ptpn12	A	T	5: 21,203,481 (GRCm39)	N432K	possibly damaging	Het
Rfwd3	A	G	8: 112,020,621 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,426 (GRCm39)	D1170V	probably damaging	Het
Sag	T	C	1: 87,762,351 (GRCm39)		probably null	Het
Sall4	C	T	2: 168,598,256 (GRCm39)	A195T	probably benign	Het
Sbf2	G	A	7: 109,966,530 (GRCm39)		probably benign	Het
Scaper	A	T	9: 55,517,158 (GRCm39)	D599E	possibly damaging	Het
Sema7a	G	A	9: 57,867,876 (GRCm39)	S484N	possibly damaging	Het
Senp1	A	G	15: 97,962,761 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,031,166 (GRCm39)	T623A	probably damaging	Het
Siae	A	G	9: 37,539,090 (GRCm39)	D95G	probably benign	Het
Slc26a2	T	C	18: 61,331,451 (GRCm39)	D660G	probably damaging	Het
Slc3a1	T	C	17: 85,336,077 (GRCm39)	F73S	possibly damaging	Het
Slfn5	A	T	11: 82,851,866 (GRCm39)	Q664L	probably damaging	Het
Spire1	T	C	18: 67,624,375 (GRCm39)	I512V	probably damaging	Het
Srpra	A	G	9: 35,124,797 (GRCm39)	T133A	probably benign	Het
Stag1	A	G	9: 100,836,300 (GRCm39)	*175W	probably null	Het
Stk32c	C	A	7: 138,700,636 (GRCm39)	V316F	probably damaging	Het
Tekt1	A	C	11: 72,236,420 (GRCm39)	N347K	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnpo2	T	A	8: 85,776,786 (GRCm39)	C498S	probably damaging	Het
Tra2b	G	A	16: 22,065,955 (GRCm39)	R281*	probably null	Het
Ubr5	A	T	15: 37,991,588 (GRCm39)	I1985N	probably benign	Het
Ush2a	T	G	1: 188,175,378 (GRCm39)	S1159A	probably benign	Het
Vmn1r15	C	T	6: 57,235,236 (GRCm39)	P35S	probably benign	Het
Vmn1r6	A	T	6: 56,979,583 (GRCm39)	I60L	probably benign	Het
Vps8	A	G	16: 21,278,561 (GRCm39)		probably benign	Het
Xkr7	T	C	2: 152,874,272 (GRCm39)	V113A	possibly damaging	Het

Other mutations in Or6z5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0057:Or6z5	UTSW	7	6,477,679 (GRCm39)	missense	probably damaging	1.00
R0446:Or6z5	UTSW	7	6,478,024 (GRCm39)	missense	probably benign	0.00
R0622:Or6z5	UTSW	7	6,477,598 (GRCm39)	missense	possibly damaging	0.46
R1596:Or6z5	UTSW	7	6,477,514 (GRCm39)	missense	probably damaging	1.00
R2233:Or6z5	UTSW	7	6,477,441 (GRCm39)	missense	possibly damaging	0.94
R2234:Or6z5	UTSW	7	6,477,441 (GRCm39)	missense	possibly damaging	0.94
R2235:Or6z5	UTSW	7	6,477,441 (GRCm39)	missense	possibly damaging	0.94
R4441:Or6z5	UTSW	7	6,477,924 (GRCm39)	missense	probably benign	0.01
R4888:Or6z5	UTSW	7	6,477,612 (GRCm39)	missense	probably damaging	0.97
R4890:Or6z5	UTSW	7	6,477,848 (GRCm39)	nonsense	probably null
R5696:Or6z5	UTSW	7	6,477,742 (GRCm39)	splice site	probably null
R6173:Or6z5	UTSW	7	6,477,835 (GRCm39)	missense	probably damaging	1.00
R6643:Or6z5	UTSW	7	6,477,720 (GRCm39)	missense	probably benign	0.11
R7404:Or6z5	UTSW	7	6,477,163 (GRCm39)	missense	probably damaging	1.00
R8120:Or6z5	UTSW	7	6,477,119 (GRCm39)	missense	probably benign	0.02
R8961:Or6z5	UTSW	7	6,477,763 (GRCm39)	missense	probably benign
R9009:Or6z5	UTSW	7	6,477,399 (GRCm39)	missense	probably benign	0.02
R9568:Or6z5	UTSW	7	6,477,334 (GRCm39)	missense	probably damaging	1.00
R9744:Or6z5	UTSW	7	6,477,210 (GRCm39)	missense	probably benign
Z1177:Or6z5	UTSW	7	6,477,389 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TTTGCCTGCCACAGGTCAATCC -3'
(R):5'- TCTTGATCGCAGAAACCAACAGTCC -3'

Sequencing Primer
(F):5'- AGGTCAATCCCTTGCTAAGTTG -3'
(R):5'- CCTCATGATCACTGAGTAGTGCAG -3'

Posted On

2013-06-12