Mutagenetix > Incidental Mutation

Incidental Mutation 'R7110:Or7a42'

551460

Institutional Source

Beutler Lab

Gene Symbol

Or7a42

Ensembl Gene

ENSMUSG00000094080

Gene Name

olfactory receptor family 7 subfamily A member 42

Synonyms

GA_x6K02T2QGN0-2857086-2856154, MOR139-5P, Olfr8

MMRRC Submission

045202-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R7110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78791041-78791973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78791284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 82 (M82L)

Ref Sequence

ENSEMBL: ENSMUSP00000144916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081571] [ENSMUST00000203851] [ENSMUST00000214952]

AlphaFold

Q60892

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081571
AA Change: M82L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: M82L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	1.3e-47	PFAM
Pfam:7tm_1	42	291	3e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203851
AA Change: M82L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: M82L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	1.3e-47	PFAM
Pfam:7tm_1	42	291	3e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214952
AA Change: M82L

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

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

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,571 (GRCm39)	T184A	possibly damaging	Het
Abca4	T	A	3: 121,926,292 (GRCm39)	Y1243N	probably damaging	Het
Adamts7	A	G	9: 90,076,017 (GRCm39)	T1250A	possibly damaging	Het
Adgrg3	T	C	8: 95,761,591 (GRCm39)	V118A	possibly damaging	Het
Agrn	A	G	4: 156,263,332 (GRCm39)	V364A	possibly damaging	Het
Cacna2d1	C	A	5: 16,562,782 (GRCm39)	L853I	probably damaging	Het
Ccdc25	A	G	14: 66,094,165 (GRCm39)	K124R	probably benign	Het
Ccdc73	A	G	2: 104,803,569 (GRCm39)	M236V	probably benign	Het
Cdh1	G	A	8: 107,395,176 (GRCm39)	D862N	possibly damaging	Het
Cdh5	A	G	8: 104,867,400 (GRCm39)	D559G	probably damaging	Het
Celsr2	C	A	3: 108,305,181 (GRCm39)	G2133C	probably damaging	Het
Chd5	A	G	4: 152,469,896 (GRCm39)	N1823S	probably damaging	Het
Cog7	T	C	7: 121,534,999 (GRCm39)	N562S	probably damaging	Het
Dcaf6	A	T	1: 165,179,537 (GRCm39)	S534R	probably benign	Het
Donson	G	A	16: 91,479,009 (GRCm39)	R436*	probably null	Het
Fam53c	T	A	18: 34,895,523 (GRCm39)		probably null	Het
Foxi3	A	G	6: 70,937,730 (GRCm39)	T321A	probably benign	Het
Frmd4b	A	T	6: 97,273,192 (GRCm39)	Y733*	probably null	Het
Fscn2	A	T	11: 120,257,580 (GRCm39)	T314S	probably benign	Het
Gfral	A	G	9: 76,072,112 (GRCm39)	I386T	possibly damaging	Het
Gm21698	T	C	5: 26,190,175 (GRCm39)	E174G	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gprin1	T	C	13: 54,887,056 (GRCm39)	D406G	probably benign	Het
Habp2	A	T	19: 56,299,596 (GRCm39)	R128*	probably null	Het
Hoxc10	A	T	15: 102,879,356 (GRCm39)	Y292F	probably damaging	Het
Hydin	A	T	8: 111,081,583 (GRCm39)		probably null	Het
Igkv12-89	T	C	6: 68,812,115 (GRCm39)	D18G	probably damaging	Het
Jhy	T	C	9: 40,828,556 (GRCm39)	N450S	probably damaging	Het
Klhl18	T	A	9: 110,279,833 (GRCm39)	Q119L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lsmem1	A	T	12: 40,235,272 (GRCm39)		probably null	Het
Ly75	A	G	2: 60,206,528 (GRCm39)	I47T	probably benign	Het
Med12l	C	A	3: 59,169,645 (GRCm39)	T1603K	possibly damaging	Het
Mgat5	A	G	1: 127,310,716 (GRCm39)	D210G	possibly damaging	Het
Mgmt	G	T	7: 136,687,715 (GRCm39)	G55W	probably damaging	Het
Mrpl57	G	A	14: 58,063,754 (GRCm39)		probably benign	Het
Mtg1	G	A	7: 139,726,779 (GRCm39)	R209Q	probably benign	Het
Muc21	CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	17: 35,933,510 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,353,559 (GRCm39)	C826W	possibly damaging	Het
Myot	A	G	18: 44,474,453 (GRCm39)	D146G	probably damaging	Het
Nlrp4f	T	A	13: 65,347,160 (GRCm39)	I11F	probably damaging	Het
Nsun5	T	A	5: 135,400,104 (GRCm39)	Y76N	probably damaging	Het
Pcdhb3	A	G	18: 37,435,975 (GRCm39)	N647S	possibly damaging	Het
Pdgfra	T	A	5: 75,349,895 (GRCm39)	Y926*	probably null	Het
Pdzd2	A	T	15: 12,368,099 (GRCm39)	L2630H	probably damaging	Het
Phox2b	G	A	5: 67,253,505 (GRCm39)	S297L	unknown	Het
Polr3e	T	A	7: 120,539,510 (GRCm39)		probably null	Het
Ppp4r2	T	A	6: 100,842,823 (GRCm39)	V238E	probably damaging	Het
Proc	A	T	18: 32,266,441 (GRCm39)	F129I	probably benign	Het
Sgca	T	A	11: 94,854,227 (GRCm39)		probably null	Het
Slc7a10	A	G	7: 34,899,009 (GRCm39)	H360R	probably benign	Het
Slurp2	G	A	15: 74,614,964 (GRCm39)	T59I	probably benign	Het
Son	A	G	16: 91,453,406 (GRCm39)	T718A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spink7	T	C	18: 62,727,338 (GRCm39)	N62S	probably damaging	Het
Stxbp3	C	A	3: 108,723,649 (GRCm39)	R195S	probably damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Tbc1d9b	A	T	11: 50,054,657 (GRCm39)	I934F	probably benign	Het
Tecpr2	T	G	12: 110,885,406 (GRCm39)	L195R	probably damaging	Het
Tns2	G	C	15: 102,013,801 (GRCm39)	C71S	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp40	G	T	1: 87,913,884 (GRCm39)	T403K	probably benign	Het
Vat1	G	T	11: 101,356,539 (GRCm39)	R141S	possibly damaging	Het
Vmn2r28	T	G	7: 5,493,733 (GRCm39)	N71T	probably benign	Het

Other mutations in Or7a42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Or7a42	APN	10	78,791,188 (GRCm39)	missense	possibly damaging	0.48
IGL01480:Or7a42	APN	10	78,791,978 (GRCm39)	utr 3 prime	probably benign
IGL02505:Or7a42	APN	10	78,791,767 (GRCm39)	missense	probably benign	0.02
IGL02543:Or7a42	APN	10	78,791,773 (GRCm39)	missense	probably damaging	1.00
IGL03323:Or7a42	APN	10	78,791,434 (GRCm39)	missense	probably benign
PIT4466001:Or7a42	UTSW	10	78,791,676 (GRCm39)	missense	probably benign	0.00
R1496:Or7a42	UTSW	10	78,791,682 (GRCm39)	missense	probably benign	0.41
R1754:Or7a42	UTSW	10	78,791,531 (GRCm39)	missense	probably damaging	0.99
R1878:Or7a42	UTSW	10	78,791,639 (GRCm39)	missense	possibly damaging	0.62
R2760:Or7a42	UTSW	10	78,791,876 (GRCm39)	missense	probably damaging	0.99
R4202:Or7a42	UTSW	10	78,791,129 (GRCm39)	missense	probably benign
R4206:Or7a42	UTSW	10	78,791,117 (GRCm39)	missense	probably benign	0.00
R4517:Or7a42	UTSW	10	78,791,877 (GRCm39)	nonsense	probably null
R4613:Or7a42	UTSW	10	78,791,899 (GRCm39)	missense	probably damaging	1.00
R4799:Or7a42	UTSW	10	78,791,931 (GRCm39)	missense	probably null	0.92
R4979:Or7a42	UTSW	10	78,791,766 (GRCm39)	nonsense	probably null
R5008:Or7a42	UTSW	10	78,791,905 (GRCm39)	missense	probably damaging	1.00
R5700:Or7a42	UTSW	10	78,791,318 (GRCm39)	missense	probably damaging	1.00
R5876:Or7a42	UTSW	10	78,791,191 (GRCm39)	missense	probably benign	0.15
R6439:Or7a42	UTSW	10	78,791,818 (GRCm39)	missense	probably damaging	1.00
R6930:Or7a42	UTSW	10	78,791,615 (GRCm39)	missense	possibly damaging	0.84
R7405:Or7a42	UTSW	10	78,791,531 (GRCm39)	missense	probably benign	0.14
R7524:Or7a42	UTSW	10	78,791,325 (GRCm39)	nonsense	probably null
R8198:Or7a42	UTSW	10	78,791,558 (GRCm39)	missense	probably damaging	0.97
R9227:Or7a42	UTSW	10	78,791,929 (GRCm39)	missense	possibly damaging	0.92
R9230:Or7a42	UTSW	10	78,791,929 (GRCm39)	missense	possibly damaging	0.92
Z1176:Or7a42	UTSW	10	78,791,053 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGATTTTCAGAAAACCCACACC -3'
(R):5'- GGATGCTAACAACCCAGGACAG -3'

Sequencing Primer
(F):5'- TTTCAGAAAACCCACACCTTCAATTC -3'
(R):5'- ACCATCAGTATACAGAGATGTTGG -3'

Posted On

2019-05-15