Mutagenetix > Incidental Mutation

Incidental Mutation 'R7640:Olfr1196'

590165

Institutional Source

Beutler Lab

Gene Symbol

Olfr1196

Ensembl Gene

ENSMUSG00000075120

Gene Name

olfactory receptor 1196

Synonyms

MOR225-5, GA_x6K02T2Q125-50181139-50180195

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7640 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88697303-88704597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88700886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 148 (I148L)

Ref Sequence

ENSEMBL: ENSMUSP00000149100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104892] [ENSMUST00000216928] [ENSMUST00000216977]

AlphaFold

Q7TR14

Predicted Effect

probably benign
Transcript: ENSMUST00000104892
AA Change: I148L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100488
Gene: ENSMUSG00000075120
AA Change: I148L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	302	7.2e-47	PFAM
Pfam:7tm_1	39	285	1.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216928
AA Change: I148L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216977
AA Change: I148L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,454,594	N20I	probably damaging	Het
1700020D05Rik	T	A	19: 5,503,007	S249C	probably damaging	Het
4930558K02Rik	A	G	1: 161,957,149	S74P	probably benign	Het
4932415D10Rik	T	A	10: 82,294,656	N840I	probably damaging	Het
Abcb6	A	T	1: 75,174,845		probably null	Het
Adamts14	C	A	10: 61,246,057	A234S	probably benign	Het
Ankrd42	A	G	7: 92,619,635	S167P	probably benign	Het
Ap3m1	T	C	14: 21,038,175	I272V	probably benign	Het
Armt1	T	C	10: 4,453,572	F219S	probably damaging	Het
Atr	T	G	9: 95,907,293		probably null	Het
Cep72	G	A	13: 74,058,488	Q72*	probably null	Het
Clock	G	T	5: 76,248,378	L175M	possibly damaging	Het
Cnmd	T	A	14: 79,661,534	Y26F	possibly damaging	Het
Col6a6	A	T	9: 105,785,744	M198K	possibly damaging	Het
Cuta	C	T	17: 26,938,422	V135I	probably benign	Het
Ddx41	A	T	13: 55,534,239	M241K	possibly damaging	Het
Dnajc22	A	G	15: 99,101,114	N60S	probably damaging	Het
Drc3	A	G	11: 60,388,904	M432V	probably benign	Het
Eef1d	C	A	15: 75,902,707	G368C	probably damaging	Het
En2	A	T	5: 28,170,166	K236*	probably null	Het
Fas	A	G	19: 34,307,164	T24A	possibly damaging	Het
Gm13078	T	C	4: 143,726,706	V128A	probably benign	Het
Golga2	T	C	2: 32,306,239	V930A	probably benign	Het
Gprin2	G	T	14: 34,195,753	A20D	probably benign	Het
Ighv14-4	A	T	12: 114,176,444	C115*	probably null	Het
Impdh2	T	C	9: 108,565,181	Y459H	possibly damaging	Het
Klhdc7b	G	T	15: 89,387,260	V124L	possibly damaging	Het
L2hgdh	A	T	12: 69,721,357	Y122*	probably null	Het
Lamc2	A	T	1: 153,136,804	I708N	possibly damaging	Het
Large2	T	C	2: 92,374,705	M1V	probably null	Het
Lrit2	T	C	14: 37,072,124	W382R	probably damaging	Het
Mcee	T	A	7: 64,411,968	V173E	probably damaging	Het
Mcph1	T	A	8: 18,632,326	V493E	probably benign	Het
Mfap4	A	G	11: 61,487,087	N118D	probably damaging	Het
Mknk2	T	C	10: 80,668,566	S301G	probably benign	Het
Mlf1	G	A	3: 67,392,933	M94I	possibly damaging	Het
Mrc2	T	A	11: 105,332,295	S455T	possibly damaging	Het
Mrgprb5	T	G	7: 48,168,259	I243L	probably benign	Het
Muc4	C	A	16: 32,760,105	P360T		Het
Nat10	G	A	2: 103,743,090	A354V	probably damaging	Het
Nts	T	C	10: 102,490,304	Q7R	possibly damaging	Het
Oas1b	T	C	5: 120,821,414	L288P	probably damaging	Het
Olfr1076	A	G	2: 86,508,943	I161M	possibly damaging	Het
Olfr1131	A	G	2: 87,629,092	I94V	probably benign	Het
Olfr633	A	T	7: 103,946,943	I126F	probably damaging	Het
Otoa	A	G	7: 121,145,626	E869G	probably damaging	Het
Pcdhac2	T	C	18: 37,144,525	L186P	probably damaging	Het
Plekhh2	A	G	17: 84,610,776	E1271G	possibly damaging	Het
Pmepa1	C	T	2: 173,276,163	A8T	probably benign	Het
Rc3h2	A	G	2: 37,377,849		probably null	Het
Rlf	T	A	4: 121,146,801	M1771L	possibly damaging	Het
Rpap1	G	A	2: 119,764,410	P1372L	possibly damaging	Het
Rragd	A	T	4: 32,983,527	D22V	probably benign	Het
Sema3f	A	T	9: 107,683,575	S644R	probably benign	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Specc1l	T	A	10: 75,257,869	N717K	probably damaging	Het
Sphkap	C	T	1: 83,278,928	D367N	possibly damaging	Het
Tbc1d21	C	T	9: 58,361,261	V272M	probably damaging	Het
Tmem132c	A	G	5: 127,563,006	D747G	probably damaging	Het
Tmem56	A	G	3: 121,235,041		probably null	Het
Trim2	C	A	3: 84,190,906	V372F	probably benign	Het
Ttc34	A	G	4: 154,861,384	T292A	probably benign	Het
Ube3b	A	G	5: 114,415,323	T919A	probably benign	Het
Wdr34	T	G	2: 30,031,768	D527A	probably benign	Het
Zfhx4	T	C	3: 5,412,480	I3385T	probably benign	Het
Zfp423	T	C	8: 87,781,277	K813R	probably damaging	Het
Zfp850	T	C	7: 27,989,209	T525A	probably benign	Het
Zfp873	T	C	10: 82,060,275	I280T	possibly damaging	Het
Zkscan7	A	G	9: 122,896,056	T697A	possibly damaging	Het

Other mutations in Olfr1196

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Olfr1196	APN	2	88700966	missense	probably damaging	1.00
R0269:Olfr1196	UTSW	2	88700696	missense	probably damaging	0.99
R0556:Olfr1196	UTSW	2	88700771	missense	possibly damaging	0.83
R0561:Olfr1196	UTSW	2	88700570	missense	possibly damaging	0.91
R0617:Olfr1196	UTSW	2	88700696	missense	probably damaging	0.99
R1497:Olfr1196	UTSW	2	88700762	missense	probably damaging	1.00
R1676:Olfr1196	UTSW	2	88701317	missense	probably benign	0.00
R3979:Olfr1196	UTSW	2	88700448	missense	probably benign	0.08
R4791:Olfr1196	UTSW	2	88700898	missense	probably benign	0.00
R4836:Olfr1196	UTSW	2	88701200	missense	probably damaging	1.00
R5917:Olfr1196	UTSW	2	88700705	missense	possibly damaging	0.94
R6232:Olfr1196	UTSW	2	88700817	missense	probably benign	0.21
R6392:Olfr1196	UTSW	2	88700667	missense	probably damaging	1.00
R7033:Olfr1196	UTSW	2	88700820	missense	probably damaging	1.00
R7360:Olfr1196	UTSW	2	88700987	missense	probably damaging	1.00
R8968:Olfr1196	UTSW	2	88700793	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAAAGCACCATCCCAGAGTTGG -3'
(R):5'- CTCTACTGTGATTCCCAGGC -3'

Sequencing Primer
(F):5'- ATCCCAGAGTTGGCAATTGC -3'
(R):5'- TGTGATTCCCAGGCTCATCAGAG -3'

Posted On

2019-10-24