Mutagenetix > Incidental Mutation

Incidental Mutation 'R5936:Or4f58'

462238

Institutional Source

Beutler Lab

Gene Symbol

Or4f58

Ensembl Gene

ENSMUSG00000109403

Gene Name

olfactory receptor family 4 subfamily F member 58

Synonyms

MOR245-21, GA_x6K02T2Q125-73069292-73068354, Olfr1311

MMRRC Submission

044130-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R5936 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111851259-111852197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111851932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 89 (H89L)

Ref Sequence

ENSEMBL: ENSMUSP00000150617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208536] [ENSMUST00000213602] [ENSMUST00000215321]

AlphaFold

Q8VET0

Predicted Effect

probably benign
Transcript: ENSMUST00000099601
AA Change: H89L

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097196
Gene: ENSMUSG00000074948
AA Change: H89L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	1.9e-43	PFAM
Pfam:7tm_1	41	287	3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208536
AA Change: H89L

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000213602
AA Change: H89L

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000215321
AA Change: H89L

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216319

Meta Mutation Damage Score

0.3136

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

91% (77/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,848 (GRCm39)		probably benign	Het
Acnat2	T	C	4: 49,383,362 (GRCm39)	T64A	probably benign	Het
Afap1	A	G	5: 36,131,740 (GRCm39)	N356D	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Ankrd46	T	C	15: 36,479,428 (GRCm39)	D221G	probably benign	Het
Ano6	T	A	15: 95,870,482 (GRCm39)	L900H	probably damaging	Het
Asphd2	G	A	5: 112,533,623 (GRCm39)	R343*	probably null	Het
Atosa	T	C	9: 74,916,586 (GRCm39)	L395P	probably benign	Het
Brdt	A	G	5: 107,507,261 (GRCm39)	T554A	probably damaging	Het
Cacna1d	A	G	14: 29,893,271 (GRCm39)	V401A	possibly damaging	Het
Cbs	T	C	17: 31,844,068 (GRCm39)	T188A	probably damaging	Het
Cfap54	T	A	10: 92,798,274 (GRCm39)	T1662S	probably benign	Het
Chka	A	G	19: 3,934,580 (GRCm39)	I205V	probably benign	Het
Chsy1	T	A	7: 65,822,025 (GRCm39)	N753K	possibly damaging	Het
Cpz	A	G	5: 35,659,987 (GRCm39)	S553P	probably benign	Het
Crtac1	A	G	19: 42,312,276 (GRCm39)	Y146H	probably damaging	Het
Csf1r	A	T	18: 61,258,880 (GRCm39)	I700F	probably damaging	Het
Ddx20	C	A	3: 105,587,903 (GRCm39)	E392D	possibly damaging	Het
Dhrs11	G	T	11: 84,716,350 (GRCm39)	Y67*	probably null	Het
Diaph3	G	T	14: 87,009,552 (GRCm39)	Q1076K	possibly damaging	Het
Dop1a	T	A	9: 86,418,565 (GRCm39)	L2037*	probably null	Het
Dst	G	T	1: 34,346,539 (GRCm39)	V5336L	probably damaging	Het
Etv1	C	A	12: 38,885,209 (GRCm39)	H248Q	probably damaging	Het
Fcgbp	T	C	7: 27,786,117 (GRCm39)	V518A	probably damaging	Het
Fchsd2	T	C	7: 100,840,908 (GRCm39)	L139S	probably damaging	Het
Fer	A	T	17: 64,231,058 (GRCm39)	T270S	probably benign	Het
Fgd5	A	G	6: 91,964,892 (GRCm39)	E375G	probably damaging	Het
Firrm	T	G	1: 163,814,581 (GRCm39)	I121L	probably benign	Het
Gabarapl1	T	A	6: 129,515,566 (GRCm39)	I68N	probably benign	Het
Gopc	C	T	10: 52,222,295 (GRCm39)	V30M	probably damaging	Het
Hbp1	T	C	12: 31,987,095 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,872,560 (GRCm39)	V2480A	probably damaging	Het
Igfbp3	T	A	11: 7,159,472 (GRCm39)	Y247F	probably damaging	Het
Kbtbd11	C	A	8: 15,077,534 (GRCm39)	S44R	probably benign	Het
Kcnk10	G	T	12: 98,456,191 (GRCm39)	S213R	probably benign	Het
Kcnq3	T	A	15: 65,871,959 (GRCm39)	D570V	probably damaging	Het
Kif21a	A	G	15: 90,819,850 (GRCm39)	F1594S	possibly damaging	Het
Klf3	A	G	5: 64,980,303 (GRCm39)	D31G	probably damaging	Het
Mapkapk3	T	C	9: 107,166,369 (GRCm39)	K59E	probably damaging	Het
Myo18a	A	G	11: 77,709,039 (GRCm39)	T484A	probably damaging	Het
Nlrp6	T	A	7: 140,502,725 (GRCm39)	L277*	probably null	Het
Nr5a1	G	T	2: 38,591,790 (GRCm39)		probably benign	Het
Nsmaf	C	T	4: 6,421,017 (GRCm39)		probably benign	Het
Orc1	A	G	4: 108,459,180 (GRCm39)	T450A	probably benign	Het
Pacsin1	A	T	17: 27,923,971 (GRCm39)	I122F	probably benign	Het
Pced1b	T	A	15: 97,283,061 (GRCm39)	Y367N	possibly damaging	Het
Pced1b	T	A	15: 97,283,063 (GRCm39)	Y367*	probably null	Het
Pdpk1	A	G	17: 24,312,203 (GRCm39)	F281L	probably damaging	Het
Piwil1	T	C	5: 128,828,142 (GRCm39)	V714A	probably benign	Het
Plcd3	C	T	11: 102,969,173 (GRCm39)	V265M	probably damaging	Het
Ppp1r1c	A	T	2: 79,586,798 (GRCm39)	E48V	possibly damaging	Het
Prl2b1	T	G	13: 27,572,432 (GRCm39)	T53P	probably damaging	Het
Ptch2	T	G	4: 116,965,491 (GRCm39)	F359V	probably benign	Het
R3hdm2	G	A	10: 127,307,681 (GRCm39)	S314N	probably damaging	Het
Rictor	A	T	15: 6,813,642 (GRCm39)	S1043C	probably damaging	Het
Rtn4rl2	A	T	2: 84,710,775 (GRCm39)	L163Q	probably damaging	Het
Sarnp	T	A	10: 128,684,640 (GRCm39)	S129T	probably benign	Het
Scube3	A	T	17: 28,384,461 (GRCm39)	K585M	probably damaging	Het
Sgk3	C	T	1: 9,956,045 (GRCm39)		probably benign	Het
Skint6	C	T	4: 112,953,790 (GRCm39)	S458N	probably benign	Het
Slc25a54	A	G	3: 109,005,954 (GRCm39)	H154R	possibly damaging	Het
Sorbs1	A	C	19: 40,313,216 (GRCm39)	I690S	probably damaging	Het
Sqle	C	A	15: 59,202,678 (GRCm39)	A512D	probably damaging	Het
Tedc2	A	C	17: 24,435,315 (GRCm39)	L358R	probably damaging	Het
Tfr2	A	G	5: 137,585,268 (GRCm39)	S767G	probably benign	Het
Thoc5	A	G	11: 4,854,133 (GRCm39)	E27G	probably damaging	Het
Trappc8	A	T	18: 21,007,745 (GRCm39)	F123L	probably damaging	Het
Ube3d	C	T	9: 86,254,512 (GRCm39)	G323D	probably benign	Het
Unc13c	T	A	9: 73,485,774 (GRCm39)	H1642L	probably damaging	Het
Vmn1r10	A	T	6: 57,091,302 (GRCm39)	H298L	probably benign	Het
Xpo4	A	T	14: 57,880,956 (GRCm39)	Y26N	probably benign	Het
Zer1	A	G	2: 29,997,679 (GRCm39)	L409P	probably damaging	Het
Zfyve28	A	T	5: 34,382,332 (GRCm39)	L256Q	probably damaging	Het
Zgrf1	A	G	3: 127,355,902 (GRCm39)	E376G	possibly damaging	Het

Other mutations in Or4f58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Or4f58	APN	2	111,851,477 (GRCm39)	missense	probably damaging	1.00
IGL02626:Or4f58	APN	2	111,851,458 (GRCm39)	missense	probably damaging	1.00
R0499:Or4f58	UTSW	2	111,851,777 (GRCm39)	missense	probably damaging	1.00
R1511:Or4f58	UTSW	2	111,851,749 (GRCm39)	missense	probably benign	0.00
R3439:Or4f58	UTSW	2	111,851,792 (GRCm39)	missense	possibly damaging	0.95
R4564:Or4f58	UTSW	2	111,852,112 (GRCm39)	missense	possibly damaging	0.80
R4756:Or4f58	UTSW	2	111,851,332 (GRCm39)	missense	possibly damaging	0.52
R4776:Or4f58	UTSW	2	111,851,276 (GRCm39)	missense	probably benign	0.01
R5777:Or4f58	UTSW	2	111,851,876 (GRCm39)	missense	probably damaging	1.00
R6283:Or4f58	UTSW	2	111,851,605 (GRCm39)	missense	possibly damaging	0.91
R6368:Or4f58	UTSW	2	111,851,896 (GRCm39)	missense	probably damaging	0.99
R6484:Or4f58	UTSW	2	111,851,764 (GRCm39)	nonsense	probably null
R7373:Or4f58	UTSW	2	111,851,787 (GRCm39)	missense	probably benign
R9223:Or4f58	UTSW	2	111,851,517 (GRCm39)	missense	possibly damaging	0.78
X0065:Or4f58	UTSW	2	111,851,980 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAAGTCCAAGGACCCAGGATAC -3'
(R):5'- TGGGGAATCCAGTTGCTTC -3'

Sequencing Primer
(F):5'- TCAAAGGCCATGGCTATG -3'
(R):5'- GGGGAATCCAGTTGCTTCTCTTC -3'

Posted On

2017-02-28