Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Olfr1202'

62641

Institutional Source

Beutler Lab

Gene Symbol

Olfr1202

Ensembl Gene

ENSMUSG00000064084

Gene Name

olfactory receptor 1202

Synonyms

MOR232-7, GA_x6K02T2Q125-50290367-50291296

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0709 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

88814496-88820711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88817882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 237 (T237I)

Ref Sequence

ENSEMBL: ENSMUSP00000150743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072057] [ENSMUST00000214703] [ENSMUST00000217059]

AlphaFold

Q8VF98

Predicted Effect

probably benign
Transcript: ENSMUST00000072057
AA Change: T237I

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071935
Gene: ENSMUSG00000064084
AA Change: T237I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	6.8e-47	PFAM
Pfam:7tm_1	39	285	1.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214703
AA Change: T237I

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000217059
AA Change: T237I

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in Olfr1202

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03221:Olfr1202	APN	2	88817437	missense	possibly damaging	0.54
R0105:Olfr1202	UTSW	2	88817909	missense	probably damaging	1.00
R0699:Olfr1202	UTSW	2	88817224	missense	probably damaging	1.00
R1177:Olfr1202	UTSW	2	88817360	missense	probably benign	0.06
R1436:Olfr1202	UTSW	2	88817992	missense	possibly damaging	0.48
R1827:Olfr1202	UTSW	2	88818058	missense	probably benign	0.04
R1828:Olfr1202	UTSW	2	88818058	missense	probably benign	0.04
R1872:Olfr1202	UTSW	2	88817936	missense	probably benign	0.02
R1878:Olfr1202	UTSW	2	88817461	missense	probably benign	0.00
R4903:Olfr1202	UTSW	2	88817998	missense	probably benign	0.14
R5035:Olfr1202	UTSW	2	88818099	missense	probably benign	0.01
R6279:Olfr1202	UTSW	2	88817375	missense	probably damaging	1.00
R7402:Olfr1202	UTSW	2	88817343	missense	probably damaging	1.00
R7809:Olfr1202	UTSW	2	88817558	missense	probably damaging	0.96
R8172:Olfr1202	UTSW	2	88817642	missense	probably damaging	1.00
R8193:Olfr1202	UTSW	2	88817459	missense	probably damaging	1.00
R8673:Olfr1202	UTSW	2	88817246	missense	probably benign
R8730:Olfr1202	UTSW	2	88817699	missense	possibly damaging	0.64
R9459:Olfr1202	UTSW	2	88817623	missense	probably benign	0.12
R9772:Olfr1202	UTSW	2	88817614	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTGTATTGACACCCACATCCTG -3'
(R):5'- CGGTGGTCAGAACCTAACATCCAG -3'

Sequencing Primer
(F):5'- CCTGGGGCTTTTTGTTGC -3'
(R):5'- ctgtctgtctgtctatctgtctg -3'

Posted On

2013-07-30