Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Or1l4'

316665

Institutional Source

Beutler Lab

Gene Symbol

Or1l4

Ensembl Gene

ENSMUSG00000059429

Gene Name

olfactory receptor family 1 subfamily L member 4

Synonyms

GA_x6K02T2NLDC-33885305-33886243, MOR138-1, Olfr365

MMRRC Submission

041623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R4078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37082917-37092193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37092024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 257 (I257N)

Ref Sequence

ENSEMBL: ENSMUSP00000151617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074168] [ENSMUST00000213969] [ENSMUST00000218602]

AlphaFold

Q8VFT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074168
AA Change: I257N

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073801
Gene: ENSMUSG00000059429
AA Change: I257N

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
Pfam:7tm_4	33	309	4.7e-58	PFAM
Pfam:7tm_1	43	292	2.2e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213969
AA Change: I257N

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218602
AA Change: I257N

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.4683

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

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
4931429L15Rik	A	T	9: 46,215,359 (GRCm39)	L367*	probably null	Het
Agfg1	T	A	1: 82,860,008 (GRCm39)	S312T	possibly damaging	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Ambp	T	A	4: 63,068,680 (GRCm39)	K112N	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Asah1	A	G	8: 41,807,119 (GRCm39)	S102P	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cabs1	G	A	5: 88,128,161 (GRCm39)	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731 (GRCm39)	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdh4	A	G	2: 179,530,966 (GRCm39)	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,540,128 (GRCm39)	D975G	probably damaging	Het
Col27a1	G	T	4: 63,142,669 (GRCm39)	R119L	probably damaging	Het
Col7a1	A	G	9: 108,790,059 (GRCm39)	N918S	unknown	Het
Colec11	T	C	12: 28,645,246 (GRCm39)	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,665,852 (GRCm39)	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,372,517 (GRCm39)	G366V	probably damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Emsy	G	A	7: 98,239,932 (GRCm39)	P1108S	probably damaging	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,604,954 (GRCm39)	G439S	probably benign	Het
Fat1	C	T	8: 45,442,159 (GRCm39)	P1154S	probably damaging	Het
Fat4	G	A	3: 39,034,169 (GRCm39)	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,522,948 (GRCm39)	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Gm38706	G	T	6: 130,460,700 (GRCm39)		noncoding transcript	Het
Gm9758	T	A	5: 14,961,536 (GRCm39)		probably null	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Heatr9	C	A	11: 83,403,254 (GRCm39)	K428N	probably benign	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kcnn3	A	G	3: 89,568,495 (GRCm39)	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,558,895 (GRCm39)		probably benign	Het
Lpp	G	A	16: 24,500,611 (GRCm39)	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mipep	T	A	14: 61,083,926 (GRCm39)	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,657,889 (GRCm39)	C547F	possibly damaging	Het
Nek3	A	T	8: 22,622,153 (GRCm39)	W363R	probably damaging	Het
Nphs1	T	A	7: 30,166,945 (GRCm39)	Y717*	probably null	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Optc	T	C	1: 133,826,087 (GRCm39)	H270R	probably damaging	Het
Or2l5	T	A	16: 19,333,982 (GRCm39)	M135L	possibly damaging	Het
Or5p80	T	A	7: 108,230,114 (GRCm39)	M305K	probably benign	Het
Or9r7	G	A	10: 129,962,587 (GRCm39)	T113I	probably damaging	Het
Pik3c2g	A	G	6: 139,612,608 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,306,948 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,142,683 (GRCm39)	I312F	probably benign	Het
Prkg1	T	C	19: 31,562,978 (GRCm39)	Y156C	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Slc22a28	T	A	19: 8,078,777 (GRCm39)	H304L	probably benign	Het
Stox1	C	T	10: 62,501,810 (GRCm39)	C250Y	probably benign	Het
Sult2a3	A	G	7: 13,855,662 (GRCm39)	W65R	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Syne2	C	A	12: 76,082,398 (GRCm39)	T4857K	probably damaging	Het
Tcp1	T	C	17: 13,136,970 (GRCm39)	L64S	probably benign	Het
Thap11	G	T	8: 106,582,548 (GRCm39)	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633 (GRCm39)		probably null	Het
Trappc10	T	C	10: 78,046,216 (GRCm39)	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,644,528 (GRCm39)	Y197C	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,985,674 (GRCm39)	T245A	probably damaging	Het
Washc1	A	T	17: 66,424,156 (GRCm39)	E289D	probably benign	Het
Zc3h7a	A	T	16: 10,969,011 (GRCm39)	V450E	probably benign	Het
Zcchc17	T	G	4: 130,223,418 (GRCm39)	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	Het

Other mutations in Or1l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Or1l4	APN	2	37,091,609 (GRCm39)	missense	probably damaging	1.00
IGL00943:Or1l4	APN	2	37,092,183 (GRCm39)	missense	probably benign	0.08
IGL01100:Or1l4	APN	2	37,091,652 (GRCm39)	missense	possibly damaging	0.58
IGL01696:Or1l4	APN	2	37,091,523 (GRCm39)	missense	probably benign	0.00
IGL02119:Or1l4	APN	2	37,091,281 (GRCm39)	missense	possibly damaging	0.73
IGL02807:Or1l4	APN	2	37,091,586 (GRCm39)	missense	probably damaging	1.00
IGL03030:Or1l4	APN	2	37,091,883 (GRCm39)	missense	probably benign	0.00
R0388:Or1l4	UTSW	2	37,092,196 (GRCm39)	splice site	probably null
R0788:Or1l4	UTSW	2	37,092,035 (GRCm39)	missense	possibly damaging	0.90
R1126:Or1l4	UTSW	2	37,092,113 (GRCm39)	missense	probably benign
R1753:Or1l4	UTSW	2	37,091,439 (GRCm39)	missense	probably damaging	1.00
R1822:Or1l4	UTSW	2	37,091,992 (GRCm39)	missense	probably damaging	1.00
R1837:Or1l4	UTSW	2	37,092,114 (GRCm39)	missense	probably benign	0.23
R3711:Or1l4	UTSW	2	37,091,285 (GRCm39)	missense	probably benign
R4077:Or1l4	UTSW	2	37,092,024 (GRCm39)	missense	possibly damaging	0.79
R4375:Or1l4	UTSW	2	37,091,574 (GRCm39)	missense	probably benign	0.33
R4607:Or1l4	UTSW	2	37,092,094 (GRCm39)	nonsense	probably null
R4608:Or1l4	UTSW	2	37,092,094 (GRCm39)	nonsense	probably null
R4889:Or1l4	UTSW	2	37,092,057 (GRCm39)	missense	probably damaging	1.00
R5398:Or1l4	UTSW	2	37,091,330 (GRCm39)	missense	probably benign	0.33
R5560:Or1l4	UTSW	2	37,091,942 (GRCm39)	missense	probably benign	0.01
R5670:Or1l4	UTSW	2	37,092,006 (GRCm39)	missense	probably benign	0.19
R6108:Or1l4	UTSW	2	37,091,778 (GRCm39)	missense	possibly damaging	0.68
R6727:Or1l4	UTSW	2	37,092,118 (GRCm39)	missense	probably damaging	1.00
R6860:Or1l4	UTSW	2	37,092,189 (GRCm39)	missense	possibly damaging	0.96
R7079:Or1l4	UTSW	2	37,092,185 (GRCm39)	missense	probably benign	0.00
R7113:Or1l4	UTSW	2	37,091,568 (GRCm39)	missense	possibly damaging	0.74
R7278:Or1l4	UTSW	2	37,092,092 (GRCm39)	missense	probably damaging	1.00
R7731:Or1l4	UTSW	2	37,091,561 (GRCm39)	missense	probably benign	0.07
R8096:Or1l4	UTSW	2	37,092,078 (GRCm39)	missense	probably damaging	0.99
R9180:Or1l4	UTSW	2	37,091,292 (GRCm39)	missense	probably benign
R9301:Or1l4	UTSW	2	37,091,255 (GRCm39)	start codon destroyed	probably benign	0.01
R9448:Or1l4	UTSW	2	37,091,221 (GRCm39)	start gained	probably benign
R9562:Or1l4	UTSW	2	37,091,575 (GRCm39)	missense	probably benign
R9565:Or1l4	UTSW	2	37,091,575 (GRCm39)	missense	probably benign
R9659:Or1l4	UTSW	2	37,091,897 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- TGATACTCAGCCTGTGTTGAAGC -3'
(R):5'- TGTCTACAGGTGAACTTTACCC -3'

Sequencing Primer
(F):5'- ACATCCTCCAGCCAGATTGTG -3'
(R):5'- AGGTGAACTTTACCCATTAACTTCC -3'

Posted On

2015-05-15