Mutagenetix > Incidental Mutation

Incidental Mutation 'R8047:Or5m11b'

618794

Institutional Source

Beutler Lab

Gene Symbol

Or5m11b

Ensembl Gene

ENSMUSG00000059873

Gene Name

olfactory receptor family 5 subfamily M member 11B

Synonyms

GA_x6K02T2Q125-47454152-47455126, Olfr1029, MOR198-1P

MMRRC Submission

067484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8047 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85805557-85806617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85806271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 228 (I228T)

Ref Sequence

ENSEMBL: ENSMUSP00000150637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056849] [ENSMUST00000082191] [ENSMUST00000217244]

AlphaFold

A2ATE0

Predicted Effect

probably benign
Transcript: ENSMUST00000056849

SMART Domains

Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	2.4e-58	PFAM
Pfam:7tm_1	47	296	3.2e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082191
AA Change: I228T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080828
Gene: ENSMUSG00000059873
AA Change: I228T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.2e-56	PFAM
Pfam:7tm_1	41	290	2.1e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217244
AA Change: I228T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,427,817 (GRCm39)	T157I	possibly damaging	Het
Cd200l2	T	C	16: 45,340,829 (GRCm39)	I245V	probably benign	Het
Cdh22	G	A	2: 165,012,687 (GRCm39)	R133W	probably damaging	Het
Cep152	A	T	2: 125,406,247 (GRCm39)	N1428K	probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Coch	G	A	12: 51,650,496 (GRCm39)		probably null	Het
D6Ertd527e	G	T	6: 87,088,454 (GRCm39)	V206F	unknown	Het
Dnaaf9	A	T	2: 130,617,019 (GRCm39)	V439E	probably damaging	Het
Dock3	T	C	9: 106,870,208 (GRCm39)	I625M	possibly damaging	Het
Dpy19l4	A	G	4: 11,317,139 (GRCm39)	S20P	probably benign	Het
Eef1e1	T	C	13: 38,830,222 (GRCm39)	Q150R	probably damaging	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Engase	T	C	11: 118,377,282 (GRCm39)	S526P	probably benign	Het
Fbxo40	T	A	16: 36,790,231 (GRCm39)	D293V	probably damaging	Het
Gipc3	T	A	10: 81,177,132 (GRCm39)	N146I	probably damaging	Het
Gm11569	T	C	11: 99,689,616 (GRCm39)	T28A	unknown	Het
Gm43302	T	C	5: 105,422,623 (GRCm39)	I470V	possibly damaging	Het
Gpihbp1	A	G	15: 75,469,627 (GRCm39)	Q114R	possibly damaging	Het
Grhl2	T	A	15: 37,336,465 (GRCm39)	M454K	probably benign	Het
Gsap	A	T	5: 21,462,866 (GRCm39)		probably null	Het
Ighv6-5	T	C	12: 114,380,191 (GRCm39)		probably null	Het
Kif1b	C	A	4: 149,299,379 (GRCm39)	V1010L	probably damaging	Het
Krt8	A	T	15: 101,912,406 (GRCm39)	I90N	probably damaging	Het
Lrrc69	A	T	4: 14,773,726 (GRCm39)	I110N	probably benign	Het
Lta	T	C	17: 35,423,011 (GRCm39)	Y104C	probably damaging	Het
Madd	A	G	2: 91,009,546 (GRCm39)	Y13H	probably damaging	Het
Mccc2	C	T	13: 100,091,181 (GRCm39)	V439I	probably benign	Het
Mecom	T	A	3: 30,292,404 (GRCm39)	D35V		Het
Msra	C	T	14: 64,522,612 (GRCm39)	A76T	probably damaging	Het
Myo18b	G	T	5: 112,871,681 (GRCm39)	D2133E	possibly damaging	Het
Ncapd2	C	T	6: 125,166,762 (GRCm39)	V31M	probably damaging	Het
Npc1	A	G	18: 12,346,374 (GRCm39)	V274A	probably benign	Het
Patz1	C	T	11: 3,256,283 (GRCm39)	P523L	probably benign	Het
Pbx2	T	C	17: 34,814,262 (GRCm39)	S350P	probably benign	Het
Plk4	T	C	3: 40,760,187 (GRCm39)	I361T	probably benign	Het
Ppat	G	T	5: 77,073,557 (GRCm39)	N122K	probably damaging	Het
Prss23	T	A	7: 89,159,136 (GRCm39)	Q311L	probably damaging	Het
Psg26	G	T	7: 18,212,474 (GRCm39)	Q294K	possibly damaging	Het
Rab3il1	G	T	19: 10,011,166 (GRCm39)	R285L	probably benign	Het
Radil	A	G	5: 142,480,695 (GRCm39)	C587R	probably damaging	Het
Rd3	A	T	1: 191,709,620 (GRCm39)		probably benign	Het
Reck	T	C	4: 43,927,221 (GRCm39)	L504P	probably damaging	Het
Rmc1	C	T	18: 12,313,586 (GRCm39)	T233M	possibly damaging	Het
Selenov	A	C	7: 27,990,108 (GRCm39)	L132R	probably benign	Het
Spag16	A	T	1: 69,882,155 (GRCm39)	D49V	probably damaging	Het
Ston2	C	T	12: 91,608,617 (GRCm39)	V828I	probably damaging	Het
Tiam1	A	G	16: 89,694,672 (GRCm39)	S262P	probably benign	Het
Tlnrd1	A	T	7: 83,532,069 (GRCm39)	S121T	probably damaging	Het
Unc13c	T	A	9: 73,719,636 (GRCm39)	K1011*	probably null	Het
Vmn2r89	T	A	14: 51,692,549 (GRCm39)	D117E	probably benign	Het
Zbtb7c	A	C	18: 76,270,221 (GRCm39)	N103T	probably damaging	Het
Zfp764	T	C	7: 127,005,412 (GRCm39)	E75G	probably damaging	Het

Other mutations in Or5m11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02020:Or5m11b	APN	2	85,805,579 (GRCm39)	utr 5 prime	probably benign
IGL02126:Or5m11b	APN	2	85,806,517 (GRCm39)	missense	probably benign	0.00
IGL02584:Or5m11b	APN	2	85,806,219 (GRCm39)	missense	probably damaging	0.96
IGL03410:Or5m11b	APN	2	85,805,764 (GRCm39)	missense	probably damaging	0.99
R1466:Or5m11b	UTSW	2	85,806,339 (GRCm39)	missense	probably damaging	1.00
R1466:Or5m11b	UTSW	2	85,806,339 (GRCm39)	missense	probably damaging	1.00
R1499:Or5m11b	UTSW	2	85,806,372 (GRCm39)	missense	possibly damaging	0.62
R1584:Or5m11b	UTSW	2	85,806,339 (GRCm39)	missense	probably damaging	1.00
R2925:Or5m11b	UTSW	2	85,806,125 (GRCm39)	nonsense	probably null
R2970:Or5m11b	UTSW	2	85,806,454 (GRCm39)	missense	possibly damaging	0.75
R4571:Or5m11b	UTSW	2	85,806,175 (GRCm39)	missense	probably damaging	0.97
R5533:Or5m11b	UTSW	2	85,805,797 (GRCm39)	missense	possibly damaging	0.78
R5654:Or5m11b	UTSW	2	85,806,500 (GRCm39)	missense	probably benign	0.00
R5827:Or5m11b	UTSW	2	85,805,650 (GRCm39)	missense	probably benign	0.00
R5967:Or5m11b	UTSW	2	85,806,535 (GRCm39)	missense	probably benign	0.01
R6291:Or5m11b	UTSW	2	85,805,926 (GRCm39)	missense	probably damaging	1.00
R6735:Or5m11b	UTSW	2	85,805,778 (GRCm39)	missense	possibly damaging	0.81
R6897:Or5m11b	UTSW	2	85,805,700 (GRCm39)	missense	possibly damaging	0.45
R7053:Or5m11b	UTSW	2	85,806,358 (GRCm39)	missense	possibly damaging	0.64
R7163:Or5m11b	UTSW	2	85,805,932 (GRCm39)	missense	probably damaging	1.00
R7358:Or5m11b	UTSW	2	85,805,780 (GRCm39)	missense	possibly damaging	0.81
R8271:Or5m11b	UTSW	2	85,806,085 (GRCm39)	missense	probably benign	0.40
R8271:Or5m11b	UTSW	2	85,805,766 (GRCm39)	missense	probably damaging	1.00
R8364:Or5m11b	UTSW	2	85,806,358 (GRCm39)	missense	possibly damaging	0.64
R9100:Or5m11b	UTSW	2	85,806,096 (GRCm39)	missense	probably benign	0.00
R9190:Or5m11b	UTSW	2	85,805,884 (GRCm39)	missense	possibly damaging	0.66
R9646:Or5m11b	UTSW	2	85,806,446 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- TGGCTTCTCAGATGGACTATTC -3'
(R):5'- TGGATTCAGCAGAGGACTTAC -3'

Sequencing Primer
(F):5'- AAGCCATCTTGACCTTCAGTATGAC -3'
(R):5'- TTCAGCAGAGGACTTACAAAGGTG -3'

Posted On

2020-01-23