Mutagenetix > Incidental Mutations

Incidental Mutation 'R7083:Olfr193'

549707

Institutional Source

Beutler Lab

Gene Symbol

Olfr193

Ensembl Gene

ENSMUSG00000060057

Gene Name

olfactory receptor 193

Synonyms

Olfr1540-ps1, MOR183-7P, GA_x54KRFPKG5P-55338697-55337768, MOR113-7P, MOR113-7P

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7083 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59107924-59111881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59110037 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 191 (D191G)

Ref Sequence

ENSEMBL: ENSMUSP00000146393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076262] [ENSMUST00000207935] [ENSMUST00000208455]

Predicted Effect

probably damaging
Transcript: ENSMUST00000076262
AA Change: D191G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075611
Gene: ENSMUSG00000060057
AA Change: D191G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.3e-48	PFAM
Pfam:7tm_1	41	290	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207935

Predicted Effect

probably damaging
Transcript: ENSMUST00000208455
AA Change: D191G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	T	12: 81,560,241	M249K	possibly damaging	Het
Arhgef38	T	A	3: 133,132,436	Q613L	unknown	Het
Arpp21	A	G	9: 112,183,544	V70A	probably benign	Het
AW551984	T	C	9: 39,597,647	N327S	probably damaging	Het
Bnc1	T	C	7: 81,973,310	K723R	probably damaging	Het
Btbd7	A	G	12: 102,788,335	L724P	probably damaging	Het
Btnl10	G	T	11: 58,919,137	V35F	probably damaging	Het
Cd22	T	A	7: 30,868,048	T704S	probably damaging	Het
Cd4	T	G	6: 124,870,572	S210R	probably benign	Het
Cped1	A	G	6: 22,123,580	Q444R	probably benign	Het
Dusp26	A	G	8: 31,091,719		probably benign	Het
Dync1i1	C	T	6: 5,969,429	A418V	probably damaging	Het
Fibp	A	G	19: 5,463,631	D232G	probably damaging	Het
Frem2	T	A	3: 53,537,493	T2406S	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gpr39	T	A	1: 125,677,418	W28R	probably damaging	Het
Greb1	A	G	12: 16,723,314	V253A	probably benign	Het
Hexim1	T	G	11: 103,117,166	L82W	possibly damaging	Het
Hmga1	G	T	17: 27,560,971	R49L	possibly damaging	Het
Itch	A	T	2: 155,210,444	N655Y	probably damaging	Het
Izumo2	A	G	7: 44,710,333	E129G	probably damaging	Het
Klk1b24	G	A	7: 44,191,801	C186Y	probably damaging	Het
Lnx1	G	A	5: 74,628,185	S31F	possibly damaging	Het
Lrmp	A	T	6: 145,169,783	N349I	probably damaging	Het
Lrrc37a	T	C	11: 103,503,340	I420V	probably benign	Het
Ltk	A	C	2: 119,752,074	C776G	probably damaging	Het
Mast4	A	C	13: 102,737,715	L1715R	probably damaging	Het
Med28	T	C	5: 45,523,536		probably null	Het
Naf1	GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 66,860,486		probably benign	Het
Nckap1l	C	A	15: 103,482,124	T774K	probably damaging	Het
Nfkbiz	T	C	16: 55,818,300	K266E	possibly damaging	Het
Ntrk3	T	A	7: 78,250,839	D584V	probably damaging	Het
Olfr107	T	C	17: 37,406,172	V208A	probably benign	Het
Olfr1261	A	G	2: 89,993,857	I155V	probably benign	Het
Olfr132	T	A	17: 38,130,710	T161S	probably benign	Het
Olfr733	G	A	14: 50,299,279	T10I	possibly damaging	Het
Picalm	T	A	7: 90,176,768	I376K	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prps1l3	A	T	12: 57,239,248	I275L	probably benign	Het
Psg26	G	A	7: 18,480,009	R243*	probably null	Het
Ranbp2	A	G	10: 58,479,230	H1924R	probably damaging	Het
Rasef	T	C	4: 73,790,984	D4G	probably benign	Het
Rttn	T	C	18: 89,090,598	L1642P	probably damaging	Het
Shroom3	T	C	5: 92,964,525	L1915P	probably damaging	Het
Slc26a10	A	G	10: 127,177,168	V319A	probably damaging	Het
Slc4a10	A	G	2: 62,234,495	N231S	probably benign	Het
Sox18	T	C	2: 181,670,372	Q322R	possibly damaging	Het
Syde1	G	T	10: 78,587,069	P490T	probably benign	Het
Syne2	A	G	12: 75,943,888	I1881M	probably damaging	Het
Taf1c	T	C	8: 119,600,668	D387G	probably damaging	Het
Tenm4	T	A	7: 96,895,349	Y2228N	probably damaging	Het
Tmem173	T	C	18: 35,734,650	H331R	probably damaging	Het
Tubgcp5	C	T	7: 55,800,695	Q185*	probably null	Het
Vmn2r44	T	A	7: 8,378,370	I175F	probably benign	Het
Zdhhc7	C	A	8: 120,085,427	C152F	probably damaging	Het
Zfp52	T	A	17: 21,560,130	M80K	possibly damaging	Het
Zfp612	T	C	8: 110,089,136	I325T	probably damaging	Het
Zmiz1	T	G	14: 25,651,948	F597V	probably damaging	Het

Other mutations in Olfr193

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Olfr193	APN	16	59110598	missense	probably benign
IGL01613:Olfr193	APN	16	59109921	missense	probably damaging	1.00
IGL02280:Olfr193	APN	16	59110332	missense	probably damaging	1.00
IGL02533:Olfr193	APN	16	59109684	missense	probably benign
IGL02544:Olfr193	APN	16	59110144	missense	probably damaging	1.00
IGL02576:Olfr193	APN	16	59109771	missense	probably benign
IGL02719:Olfr193	APN	16	59110173	missense	probably benign	0.01
IGL03215:Olfr193	APN	16	59109962	missense	possibly damaging	0.46
IGL03272:Olfr193	APN	16	59110556	missense	probably benign	0.01
PIT4802001:Olfr193	UTSW	16	59110601	missense	probably benign
R0544:Olfr193	UTSW	16	59110225	missense	probably benign	0.03
R0783:Olfr193	UTSW	16	59110169	nonsense	probably null
R1070:Olfr193	UTSW	16	59109819	missense	probably benign	0.08
R1211:Olfr193	UTSW	16	59110160	missense	possibly damaging	0.68
R1662:Olfr193	UTSW	16	59110604	missense	probably benign	0.00
R1754:Olfr193	UTSW	16	59110581	missense	probably benign	0.03
R1765:Olfr193	UTSW	16	59109755	missense	probably damaging	1.00
R1937:Olfr193	UTSW	16	59109794	missense	probably benign	0.11
R2875:Olfr193	UTSW	16	59109802	missense	probably benign	0.01
R2910:Olfr193	UTSW	16	59110181	missense	probably benign	0.00
R2911:Olfr193	UTSW	16	59110181	missense	probably benign	0.00
R5084:Olfr193	UTSW	16	59110073	missense	possibly damaging	0.90
R5700:Olfr193	UTSW	16	59109993	missense	probably damaging	0.99
R7018:Olfr193	UTSW	16	59110607	start codon destroyed	probably null	0.98
R7572:Olfr193	UTSW	16	59110430	missense	probably damaging	1.00
R7720:Olfr193	UTSW	16	59109771	missense	probably benign
R8045:Olfr193	UTSW	16	59110039	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACTTGTGGAGATGCAGGGC -3'
(R):5'- CCCAGTGATCATGACAAATAGACTC -3'

Sequencing Primer
(F):5'- GCAGGGCGCACATACATG -3'
(R):5'- CATGACAAATAGACTCTGTGTACGTC -3'

Posted On

2019-05-15