Mutagenetix > Incidental Mutation

Incidental Mutation 'R6423:Or11l3'

518246

Institutional Source

Beutler Lab

Gene Symbol

Or11l3

Ensembl Gene

ENSMUSG00000043880

Gene Name

olfactory receptor family 11 subfamily L member 3

Synonyms

MOR107-1, Olfr323, GA_x6K02T2NKPP-794386-795357

MMRRC Submission

044386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6423 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58515899-58516870 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58516189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 228 (I228V)

Ref Sequence

ENSEMBL: ENSMUSP00000151137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070804] [ENSMUST00000203173] [ENSMUST00000214132]

AlphaFold

Q5NCD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000070804
AA Change: I228V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068147
Gene: ENSMUSG00000043880
AA Change: I228V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.4e-54	PFAM
Pfam:7tm_1	41	290	3.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203173

SMART Domains

Protein: ENSMUSP00000145459
Gene: ENSMUSG00000043880

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000214132
AA Change: I228V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,778 (GRCm39)	M2842L	probably benign	Het
Actl7b	T	C	4: 56,741,213 (GRCm39)	I48M	probably benign	Het
Adgrb1	G	T	15: 74,459,992 (GRCm39)		probably null	Het
Arhgap10	G	T	8: 78,244,386 (GRCm39)	S9R	probably damaging	Het
Bcl11b	T	C	12: 107,881,678 (GRCm39)	E807G	possibly damaging	Het
Chia1	A	G	3: 106,036,304 (GRCm39)	T295A	possibly damaging	Het
Cnrip1	T	C	11: 17,002,350 (GRCm39)		probably null	Het
Ets1	A	G	9: 32,649,611 (GRCm39)	K316R	probably damaging	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Flnc	G	A	6: 29,445,155 (GRCm39)		probably null	Het
Foxf1	G	A	8: 121,811,834 (GRCm39)	G233R	possibly damaging	Het
H2-DMa	A	G	17: 34,356,170 (GRCm39)	I57M	probably benign	Het
Insr	C	T	8: 3,223,566 (GRCm39)	V856I	probably benign	Het
Iqub	T	C	6: 24,491,528 (GRCm39)	D386G	probably damaging	Het
Kcna3	C	A	3: 106,944,158 (GRCm39)	Y140*	probably null	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Mgam	A	G	6: 40,653,979 (GRCm39)	Y844C	possibly damaging	Het
Nbeal2	T	C	9: 110,455,062 (GRCm39)	Q2605R	probably damaging	Het
Ncor2	A	G	5: 125,164,966 (GRCm39)	I316T	unknown	Het
Nell2	A	T	15: 95,425,163 (GRCm39)	F63Y	probably damaging	Het
Qrfprl	A	G	6: 65,433,077 (GRCm39)	N299S	probably benign	Het
Zfp386	A	G	12: 116,023,733 (GRCm39)	I449V	probably damaging	Het

Other mutations in Or11l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02995:Or11l3	APN	11	58,516,107 (GRCm39)	missense	possibly damaging	0.92
IGL03118:Or11l3	APN	11	58,516,269 (GRCm39)	missense	probably damaging	0.99
R0058:Or11l3	UTSW	11	58,516,494 (GRCm39)	missense	probably damaging	1.00
R0335:Or11l3	UTSW	11	58,516,566 (GRCm39)	missense	probably damaging	1.00
R1127:Or11l3	UTSW	11	58,516,284 (GRCm39)	missense	probably damaging	0.98
R2029:Or11l3	UTSW	11	58,516,319 (GRCm39)	missense	probably damaging	1.00
R2434:Or11l3	UTSW	11	58,515,937 (GRCm39)	missense	possibly damaging	0.95
R5483:Or11l3	UTSW	11	58,516,783 (GRCm39)	missense	possibly damaging	0.95
R6990:Or11l3	UTSW	11	58,516,284 (GRCm39)	missense	probably damaging	0.98
R7472:Or11l3	UTSW	11	58,516,260 (GRCm39)	missense	probably damaging	1.00
R7539:Or11l3	UTSW	11	58,516,782 (GRCm39)	missense	probably damaging	1.00
R7635:Or11l3	UTSW	11	58,515,990 (GRCm39)	missense	unknown
R7647:Or11l3	UTSW	11	58,516,029 (GRCm39)	missense	probably damaging	1.00
R8519:Or11l3	UTSW	11	58,516,800 (GRCm39)	missense	probably damaging	1.00
R8869:Or11l3	UTSW	11	58,515,994 (GRCm39)	missense	unknown
R9180:Or11l3	UTSW	11	58,516,062 (GRCm39)	missense	probably benign	0.36
R9262:Or11l3	UTSW	11	58,516,282 (GRCm39)	missense	probably benign	0.00
R9788:Or11l3	UTSW	11	58,516,692 (GRCm39)	missense	probably benign	0.03
Z1186:Or11l3	UTSW	11	58,516,588 (GRCm39)	missense	probably benign	0.00
Z1186:Or11l3	UTSW	11	58,516,619 (GRCm39)	missense	probably benign
Z1186:Or11l3	UTSW	11	58,516,732 (GRCm39)	missense	possibly damaging	0.87
Z1186:Or11l3	UTSW	11	58,516,130 (GRCm39)	missense	probably benign	0.16
Z1186:Or11l3	UTSW	11	58,516,075 (GRCm39)	missense	probably benign	0.16
Z1187:Or11l3	UTSW	11	58,516,619 (GRCm39)	missense	probably benign
Z1187:Or11l3	UTSW	11	58,516,732 (GRCm39)	missense	possibly damaging	0.87
Z1187:Or11l3	UTSW	11	58,516,075 (GRCm39)	missense	probably benign	0.16
Z1187:Or11l3	UTSW	11	58,516,130 (GRCm39)	missense	probably benign	0.16
Z1187:Or11l3	UTSW	11	58,516,588 (GRCm39)	missense	probably benign	0.00
Z1188:Or11l3	UTSW	11	58,516,588 (GRCm39)	missense	probably benign	0.00
Z1188:Or11l3	UTSW	11	58,516,130 (GRCm39)	missense	probably benign	0.16
Z1188:Or11l3	UTSW	11	58,516,075 (GRCm39)	missense	probably benign	0.16
Z1188:Or11l3	UTSW	11	58,516,732 (GRCm39)	missense	possibly damaging	0.87
Z1188:Or11l3	UTSW	11	58,516,619 (GRCm39)	missense	probably benign
Z1189:Or11l3	UTSW	11	58,516,588 (GRCm39)	missense	probably benign	0.00
Z1189:Or11l3	UTSW	11	58,516,130 (GRCm39)	missense	probably benign	0.16
Z1189:Or11l3	UTSW	11	58,516,075 (GRCm39)	missense	probably benign	0.16
Z1189:Or11l3	UTSW	11	58,516,732 (GRCm39)	missense	possibly damaging	0.87
Z1189:Or11l3	UTSW	11	58,516,619 (GRCm39)	missense	probably benign
Z1190:Or11l3	UTSW	11	58,516,588 (GRCm39)	missense	probably benign	0.00
Z1190:Or11l3	UTSW	11	58,516,130 (GRCm39)	missense	probably benign	0.16
Z1190:Or11l3	UTSW	11	58,516,075 (GRCm39)	missense	probably benign	0.16
Z1190:Or11l3	UTSW	11	58,516,732 (GRCm39)	missense	possibly damaging	0.87
Z1190:Or11l3	UTSW	11	58,516,619 (GRCm39)	missense	probably benign
Z1191:Or11l3	UTSW	11	58,516,588 (GRCm39)	missense	probably benign	0.00
Z1191:Or11l3	UTSW	11	58,516,130 (GRCm39)	missense	probably benign	0.16
Z1191:Or11l3	UTSW	11	58,516,075 (GRCm39)	missense	probably benign	0.16
Z1191:Or11l3	UTSW	11	58,516,732 (GRCm39)	missense	possibly damaging	0.87
Z1191:Or11l3	UTSW	11	58,516,619 (GRCm39)	missense	probably benign
Z1192:Or11l3	UTSW	11	58,516,588 (GRCm39)	missense	probably benign	0.00
Z1192:Or11l3	UTSW	11	58,516,130 (GRCm39)	missense	probably benign	0.16
Z1192:Or11l3	UTSW	11	58,516,075 (GRCm39)	missense	probably benign	0.16
Z1192:Or11l3	UTSW	11	58,516,732 (GRCm39)	missense	possibly damaging	0.87
Z1192:Or11l3	UTSW	11	58,516,619 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGAAGTCTTTGTTCCTCAGGC -3'
(R):5'- AAGTTGGACTTCTGTGGGCC -3'

Sequencing Primer
(F):5'- CCTCAGGCTGTAGATAACTGG -3'
(R):5'- ACTTCTGTGGGCCCAACC -3'

Posted On

2018-05-24