Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Olfr544'

482386

Institutional Source

Beutler Lab

Gene Symbol

Olfr544

Ensembl Gene

ENSMUSG00000043925

Gene Name

olfactory receptor 544

Synonyms

GA_x6K02T2PBJ9-5206624-5205620, MOR42-3

MMRRC Submission

044243-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102482031-102488313 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102484389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 244 (T244A)

Ref Sequence

ENSEMBL: ENSMUSP00000051280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051201] [ENSMUST00000219647]

AlphaFold

E9PX47

Predicted Effect

probably damaging
Transcript: ENSMUST00000051201
AA Change: T244A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051280
Gene: ENSMUSG00000043925
AA Change: T244A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	314	1.2e-73	PFAM
Pfam:7TM_GPCR_Srsx	39	311	6.3e-8	PFAM
Pfam:7tm_1	45	296	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219647

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954 (GRCm38)	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231 (GRCm38)	T161A	probably benign	Het
Bora	A	T	14: 99,062,294 (GRCm38)	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521 (GRCm38)		probably null	Het
Cass4	G	T	2: 172,426,912 (GRCm38)	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096 (GRCm38)	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673 (GRCm38)	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837 (GRCm38)	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601 (GRCm38)	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887 (GRCm38)	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405 (GRCm38)	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370 (GRCm38)	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159 (GRCm38)	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827 (GRCm38)		probably benign	Het
Col1a2	A	T	6: 4,505,840 (GRCm38)	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418 (GRCm38)	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897 (GRCm38)	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865 (GRCm38)	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584 (GRCm38)	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290 (GRCm38)	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213 (GRCm38)	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604 (GRCm38)	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119 (GRCm38)	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723 (GRCm38)	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094 (GRCm38)	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842 (GRCm38)	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809 (GRCm38)		probably null	Het
Gm6768	A	G	12: 119,261,651 (GRCm38)		noncoding transcript	Het
Grp	A	T	18: 65,879,937 (GRCm38)	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842 (GRCm38)	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539 (GRCm38)	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170 (GRCm38)	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680 (GRCm38)	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656 (GRCm38)	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727 (GRCm38)	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801 (GRCm38)	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553 (GRCm38)	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211 (GRCm38)	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292 (GRCm38)	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285 (GRCm38)	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946 (GRCm38)	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084 (GRCm38)	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332 (GRCm38)	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389 (GRCm38)	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512 (GRCm38)	V206A	probably benign	Het
Olfr67	C	T	7: 103,787,955 (GRCm38)	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327 (GRCm38)	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883 (GRCm38)	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843 (GRCm38)	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205 (GRCm38)	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987 (GRCm38)	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463 (GRCm38)	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848 (GRCm38)	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444 (GRCm38)	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780 (GRCm38)	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163 (GRCm38)	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611 (GRCm38)	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278 (GRCm38)		probably null	Het
Rlf	A	T	4: 121,149,215 (GRCm38)	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174 (GRCm38)	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007 (GRCm38)	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123 (GRCm38)	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493 (GRCm38)	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212 (GRCm38)	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647 (GRCm38)	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770 (GRCm38)	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024 (GRCm38)	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994 (GRCm38)	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614 (GRCm38)	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098 (GRCm38)	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109 (GRCm38)	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100 (GRCm38)	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475 (GRCm38)	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357 (GRCm38)	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779 (GRCm38)	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698 (GRCm38)	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721 (GRCm38)	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046 (GRCm38)	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210 (GRCm38)	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278 (GRCm38)	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530 (GRCm38)	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668 (GRCm38)	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627 (GRCm38)	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846 (GRCm38)	K314*	probably null	Het

Other mutations in Olfr544

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Olfr544	APN	7	102,484,478 (GRCm38)	missense	probably damaging	1.00
IGL01380:Olfr544	APN	7	102,484,385 (GRCm38)	missense	probably damaging	1.00
IGL01594:Olfr544	APN	7	102,485,047 (GRCm38)	missense	probably benign
R0732:Olfr544	UTSW	7	102,484,443 (GRCm38)	missense	probably benign	0.15
R1061:Olfr544	UTSW	7	102,484,114 (GRCm38)	makesense	probably null
R1387:Olfr544	UTSW	7	102,484,704 (GRCm38)	missense	probably benign	0.01
R2760:Olfr544	UTSW	7	102,484,376 (GRCm38)	missense	probably damaging	1.00
R5151:Olfr544	UTSW	7	102,484,985 (GRCm38)	missense	probably benign	0.00
R5916:Olfr544	UTSW	7	102,484,379 (GRCm38)	missense	probably damaging	1.00
R7069:Olfr544	UTSW	7	102,484,772 (GRCm38)	missense	possibly damaging	0.85
R7195:Olfr544	UTSW	7	102,484,367 (GRCm38)	missense	probably damaging	1.00
R7738:Olfr544	UTSW	7	102,484,611 (GRCm38)	missense	probably damaging	0.99
R8299:Olfr544	UTSW	7	102,484,202 (GRCm38)	missense	probably benign	0.01
R8433:Olfr544	UTSW	7	102,484,784 (GRCm38)	missense	probably benign	0.00
R9063:Olfr544	UTSW	7	102,484,724 (GRCm38)	missense	probably damaging	0.98
R9396:Olfr544	UTSW	7	102,484,973 (GRCm38)	missense	possibly damaging	0.95
R9698:Olfr544	UTSW	7	102,484,170 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAGACCTGTTGCTGAGTCC -3'
(R):5'- GCCCTGATGAAGCTTTCCTG -3'

Posted On

2017-07-14