Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Or5ac19'

702209

Institutional Source

Beutler Lab

Gene Symbol

Or5ac19

Ensembl Gene

ENSMUSG00000074995

Gene Name

olfactory receptor family 5 subfamily AC member 19

Synonyms

Olfr201, MOR182-2, GA_x54KRFPKG5P-55483936-55483010

MMRRC Submission

068962-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R9260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59089102-59090028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59089677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 118 (M118V)

Ref Sequence

ENSEMBL: ENSMUSP00000150660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099656] [ENSMUST00000216834]

AlphaFold

Q7TS38

Predicted Effect

probably damaging
Transcript: ENSMUST00000099656
AA Change: M118V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097248
Gene: ENSMUSG00000074995
AA Change: M118V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-46	PFAM
Pfam:7tm_1	41	290	8e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216834
AA Change: M118V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	G	1: 172,074,359 (GRCm39)	I298T	probably damaging	Het
Bmper	T	A	9: 23,318,016 (GRCm39)	L545H	probably benign	Het
Cacnb3	A	G	15: 98,537,438 (GRCm39)	S39G	probably benign	Het
Casr	T	C	16: 36,330,326 (GRCm39)	K336R	probably benign	Het
Ccdc141	C	A	2: 76,844,795 (GRCm39)	G1424V	probably damaging	Het
Cd101	A	T	3: 100,920,599 (GRCm39)	D437E	probably benign	Het
Chadl	A	G	15: 81,578,058 (GRCm39)	S524P	probably damaging	Het
Cimap2	T	C	4: 106,472,634 (GRCm39)	K84E	probably benign	Het
Clec4a4	C	T	6: 123,000,895 (GRCm39)	R203*	probably null	Het
Cntnap4	A	G	8: 113,500,276 (GRCm39)	I523V	probably benign	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,642,766 (GRCm39)	S229R	possibly damaging	Het
Dnajc15	A	G	14: 78,081,839 (GRCm39)	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,108,447 (GRCm39)	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,769,278 (GRCm39)	V675A	probably benign	Het
F10	G	A	8: 13,105,638 (GRCm39)	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Fpr1	A	T	17: 18,098,006 (GRCm39)		probably benign	Het
Frem2	G	C	3: 53,560,204 (GRCm39)	S1434R	probably damaging	Het
Gli3	G	T	13: 15,899,675 (GRCm39)	V1021F	probably damaging	Het
Gm7168	A	T	17: 14,169,488 (GRCm39)	N285I	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc1	T	A	9: 66,325,691 (GRCm39)	C1388*	probably null	Het
Hikeshi	T	C	7: 89,579,776 (GRCm39)		probably benign	Het
Hjv	T	A	3: 96,435,579 (GRCm39)	I279N	probably damaging	Het
Igfn1	T	C	1: 135,907,694 (GRCm39)	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,298,737 (GRCm39)	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,237,457 (GRCm39)	I95F	probably damaging	Het
Il31ra	A	T	13: 112,668,202 (GRCm39)	S456T	probably damaging	Het
Ints3	T	C	3: 90,308,468 (GRCm39)	D610G	probably damaging	Het
Iqcg	G	A	16: 32,855,973 (GRCm39)	Q201*	probably null	Het
Kat14	T	A	2: 144,235,441 (GRCm39)	D300E	probably benign	Het
Kbtbd13	T	C	9: 65,298,852 (GRCm39)	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,528,069 (GRCm39)	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,701,775 (GRCm39)	T595A	probably benign	Het
Lct	C	T	1: 128,227,704 (GRCm39)	W1263*	probably null	Het
Micall2	T	A	5: 139,695,453 (GRCm39)	M905L	unknown	Het
Mkrn1	T	C	6: 39,382,530 (GRCm39)		probably benign	Het
Mobp	A	G	9: 119,997,572 (GRCm39)	T164A	unknown	Het
Mtrr	T	C	13: 68,728,674 (GRCm39)	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,405,255 (GRCm39)	W888R	unknown	Het
Myh7	G	A	14: 55,224,842 (GRCm39)	A575V	probably damaging	Het
Nbea	A	C	3: 55,891,233 (GRCm39)	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,362,216 (GRCm39)		probably null	Het
Nsun4	T	C	4: 115,902,007 (GRCm39)	Y153C	probably damaging	Het
Nup210	A	G	6: 91,039,785 (GRCm39)	I690T	probably benign	Het
Nyap2	T	A	1: 81,064,835 (GRCm39)		probably benign	Het
Oaz1	T	A	10: 80,662,603 (GRCm39)	S4T	possibly damaging	Het
Optn	C	T	2: 5,045,076 (GRCm39)	C222Y	probably benign	Het
Or11i1	A	G	3: 106,729,510 (GRCm39)	S122P	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,271 (GRCm39)	V222E		Het
Or6c76b	G	A	10: 129,692,458 (GRCm39)	V24M	probably benign	Het
Or7a40	A	T	16: 16,491,337 (GRCm39)	C169*	probably null	Het
Osmr	T	A	15: 6,882,033 (GRCm39)	H37L	probably benign	Het
Pccb	G	T	9: 100,877,643 (GRCm39)	P287Q	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,526,572 (GRCm39)		probably null	Het
Pde9a	T	C	17: 31,678,137 (GRCm39)		probably null	Het
Pdk2	C	A	11: 94,930,260 (GRCm39)	V59F	probably damaging	Het
Pgm1	T	A	4: 99,827,186 (GRCm39)	V362E	probably damaging	Het
Pmepa1	CCGGCGGCGGCGGCGGCGG	CCGGCGGCGGCGGCGG	2: 173,117,943 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,904 (GRCm39)	F97S	possibly damaging	Het
Ppp5c	C	T	7: 16,740,886 (GRCm39)	V361I	probably benign	Het
Prrt1	A	G	17: 34,850,120 (GRCm39)	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,863,033 (GRCm39)	I84F	probably damaging	Het
Smg7	A	G	1: 152,737,549 (GRCm39)	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,078,428 (GRCm39)	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,753,456 (GRCm39)	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,663,554 (GRCm39)	G109R	possibly damaging	Het
Thap12	C	T	7: 98,356,280 (GRCm39)	R56*	probably null	Het
Ttn	T	C	2: 76,645,919 (GRCm39)	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uqcrfs1	G	A	13: 30,725,108 (GRCm39)	A144V	probably damaging	Het
Usp13	T	A	3: 32,955,909 (GRCm39)		probably benign	Het
Wdr19	T	A	5: 65,363,789 (GRCm39)	D67E	possibly damaging	Het
Zfp998	A	T	13: 66,579,375 (GRCm39)	H369Q	unknown	Het
Zkscan3	A	T	13: 21,578,210 (GRCm39)	W226R	probably damaging	Het
Zmym5	A	C	14: 57,041,641 (GRCm39)	F154C	probably damaging	Het

Other mutations in Or5ac19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Or5ac19	APN	16	59,089,213 (GRCm39)	missense	probably benign	0.07
IGL01985:Or5ac19	APN	16	59,089,442 (GRCm39)	missense	probably benign
IGL02618:Or5ac19	APN	16	59,089,290 (GRCm39)	missense	probably damaging	1.00
IGL02830:Or5ac19	APN	16	59,089,416 (GRCm39)	missense	possibly damaging	0.94
PIT4449001:Or5ac19	UTSW	16	59,089,493 (GRCm39)	missense	probably damaging	1.00
R0047:Or5ac19	UTSW	16	59,089,574 (GRCm39)	missense	probably damaging	1.00
R0047:Or5ac19	UTSW	16	59,089,574 (GRCm39)	missense	probably damaging	1.00
R1035:Or5ac19	UTSW	16	59,089,307 (GRCm39)	missense	probably damaging	1.00
R1037:Or5ac19	UTSW	16	59,089,307 (GRCm39)	missense	probably damaging	1.00
R1163:Or5ac19	UTSW	16	59,089,518 (GRCm39)	missense	probably benign	0.23
R1225:Or5ac19	UTSW	16	59,089,587 (GRCm39)	missense	probably benign
R1519:Or5ac19	UTSW	16	59,089,307 (GRCm39)	missense	probably damaging	1.00
R1583:Or5ac19	UTSW	16	59,089,394 (GRCm39)	missense	probably benign	0.00
R2075:Or5ac19	UTSW	16	59,089,274 (GRCm39)	missense	possibly damaging	0.60
R4591:Or5ac19	UTSW	16	59,089,776 (GRCm39)	missense	possibly damaging	0.94
R5547:Or5ac19	UTSW	16	59,089,479 (GRCm39)	missense	probably benign	0.35
R6132:Or5ac19	UTSW	16	59,089,367 (GRCm39)	missense	probably damaging	0.97
R6737:Or5ac19	UTSW	16	59,089,175 (GRCm39)	missense	possibly damaging	0.60
R6872:Or5ac19	UTSW	16	59,089,961 (GRCm39)	missense	probably benign	0.20
R8001:Or5ac19	UTSW	16	59,089,472 (GRCm39)	missense	probably benign	0.01
R8525:Or5ac19	UTSW	16	59,089,571 (GRCm39)	missense	probably benign	0.07
R9003:Or5ac19	UTSW	16	59,089,263 (GRCm39)	missense	probably benign	0.05
R9584:Or5ac19	UTSW	16	59,089,580 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CACGTTAATTGTTGGATCAGTGCAAG -3'
(R):5'- TATTCCTCAGTAGCCTGGCC -3'

Sequencing Primer
(F):5'- TTGGATCAGTGCAAGAAATGTTG -3'
(R):5'- AGTAGCCTGGCCTTTGCTGAC -3'

Posted On

2022-03-25