Mutagenetix > Incidental Mutation

Incidental Mutation 'R7153:Or4p19'

554236

Institutional Source

Beutler Lab

Gene Symbol

Or4p19

Ensembl Gene

ENSMUSG00000081836

Gene Name

olfactory receptor family 4 subfamily P member 19

Synonyms

GA_x6K02T2Q125-49900552-49899623, MOR225-1, Olfr1180

MMRRC Submission

045255-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88241971-88243033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88242462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 180 (L180W)

Ref Sequence

ENSEMBL: ENSMUSP00000149838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099824] [ENSMUST00000216121] [ENSMUST00000217320]

AlphaFold

Q0VB29

Predicted Effect

probably damaging
Transcript: ENSMUST00000099824
AA Change: L180W

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

SMART Domains

Protein: ENSMUSP00000097412
Gene: ENSMUSG00000081836
AA Change: L180W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	26	300	2.8e-47	PFAM
Pfam:7tm_1	36	282	2.6e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216121
AA Change: L180W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217320
AA Change: L180W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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
Ano2	A	G	6: 125,969,906 (GRCm39)	T741A	possibly damaging	Het
Aox4	T	C	1: 58,289,378 (GRCm39)	M767T	probably damaging	Het
Arhgap39	C	A	15: 76,649,691 (GRCm39)	S27I	probably benign	Het
AU018091	T	A	7: 3,209,353 (GRCm39)	M296L	probably benign	Het
Axin1	A	G	17: 26,406,942 (GRCm39)	T512A	probably benign	Het
B4galnt3	A	T	6: 120,191,929 (GRCm39)	D602E	probably benign	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bsnd	A	T	4: 106,349,230 (GRCm39)	D3E	probably benign	Het
Btbd18	C	T	2: 84,496,772 (GRCm39)	R137*	probably null	Het
C2cd5	A	G	6: 142,965,135 (GRCm39)	S871P	probably benign	Het
Cobl	G	T	11: 12,204,128 (GRCm39)	P858Q	probably damaging	Het
Col6a1	C	T	10: 76,546,175 (GRCm39)		probably null	Het
Crb2	A	T	2: 37,677,420 (GRCm39)	H304L	probably benign	Het
Crybg1	T	A	10: 43,840,662 (GRCm39)	Y1812F	possibly damaging	Het
Ddx60	A	T	8: 62,441,142 (GRCm39)	K1070N	possibly damaging	Het
Defb22	T	C	2: 152,327,840 (GRCm39)	K115R	unknown	Het
Dhx8	C	T	11: 101,631,001 (GRCm39)		probably null	Het
Dnah5	T	A	15: 28,365,668 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,165,964 (GRCm39)	F543Y	probably benign	Het
Ehhadh	A	G	16: 21,585,071 (GRCm39)	F270S	probably damaging	Het
Esyt2	A	G	12: 116,310,128 (GRCm39)	M397V	probably benign	Het
Fanca	A	T	8: 124,043,164 (GRCm39)	L74H	probably damaging	Het
Fbxl17	C	A	17: 63,367,346 (GRCm39)	V676F	probably benign	Het
Fndc1	A	G	17: 8,020,477 (GRCm39)	V102A	probably damaging	Het
Gpalpp1	T	C	14: 76,332,451 (GRCm39)	Y273C	probably damaging	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,411,463 (GRCm39)	H225R	probably benign	Het
Helz2	A	T	2: 180,873,078 (GRCm39)	S2411T	probably benign	Het
Hnmt	C	T	2: 23,904,353 (GRCm39)	A103T	probably damaging	Het
Ighv15-2	G	T	12: 114,528,210 (GRCm39)	Y114*	probably null	Het
Irak2	A	G	6: 113,655,670 (GRCm39)	H357R	probably benign	Het
Kcp	T	C	6: 29,499,014 (GRCm39)	E320G	probably damaging	Het
Kpna4	A	G	3: 68,997,131 (GRCm39)	L352S	probably damaging	Het
Krt36	G	A	11: 99,995,972 (GRCm39)	Q151*	probably null	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lca5l	T	A	16: 95,975,009 (GRCm39)	N305I	probably damaging	Het
Lefty1	T	A	1: 180,765,332 (GRCm39)	L300Q	probably benign	Het
Mertk	A	G	2: 128,578,569 (GRCm39)	Y185C	probably damaging	Het
Mmp14	T	C	14: 54,673,708 (GRCm39)	I124T	possibly damaging	Het
Nlrc4	T	C	17: 74,754,098 (GRCm39)	E95G	possibly damaging	Het
Npc1	A	G	18: 12,346,348 (GRCm39)	F283L	possibly damaging	Het
Or4k38	A	T	2: 111,166,246 (GRCm39)	M59K	probably damaging	Het
Pcdha11	T	C	18: 37,144,278 (GRCm39)	V123A	probably damaging	Het
Pcdhga2	T	C	18: 37,802,261 (GRCm39)	V35A	probably damaging	Het
Pgd	G	T	4: 149,246,135 (GRCm39)	T94K	probably benign	Het
Pik3c2a	T	C	7: 115,941,487 (GRCm39)	N1593S	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,935,452 (GRCm39)		probably null	Het
Prkd3	C	T	17: 79,273,784 (GRCm39)	D491N	probably benign	Het
Ptprf	T	C	4: 118,088,740 (GRCm39)	T688A	probably damaging	Het
Pycr2	T	A	1: 180,734,247 (GRCm39)	L210M	probably damaging	Het
Rpl36	T	C	17: 56,921,137 (GRCm39)	I81T	probably benign	Het
Rraga	C	T	4: 86,494,253 (GRCm39)	A33V	probably damaging	Het
Slc29a1	G	A	17: 45,896,688 (GRCm39)	A429V	probably damaging	Het
Stab1	T	G	14: 30,882,541 (GRCm39)	E432A	probably benign	Het
Synj1	C	T	16: 90,744,978 (GRCm39)	G1189R	probably benign	Het
Synpo2	A	G	3: 122,906,053 (GRCm39)	*1088Q	probably null	Het
Tbc1d21	T	C	9: 58,270,376 (GRCm39)	D133G	probably damaging	Het
Tenm2	A	G	11: 35,915,009 (GRCm39)	V2176A	probably damaging	Het
Tff1	A	G	17: 31,381,772 (GRCm39)	I35T	probably benign	Het
Thnsl1	T	C	2: 21,217,764 (GRCm39)	V506A	possibly damaging	Het
Timm10b	A	G	7: 105,290,087 (GRCm39)	Q50R	unknown	Het
Tjp2	A	T	19: 24,079,345 (GRCm39)	N843K	probably benign	Het
Tle1	A	T	4: 72,057,298 (GRCm39)	F101I	probably benign	Het
Tmem225	T	C	9: 40,059,664 (GRCm39)	F15L	probably benign	Het
Trav12-3	T	C	14: 53,859,618 (GRCm39)	L88P	probably benign	Het
Ttc7b	A	T	12: 100,321,293 (GRCm39)	W613R	probably damaging	Het
Ttn	T	A	2: 76,608,848 (GRCm39)	M17723L	probably benign	Het
Ttn	T	C	2: 76,775,660 (GRCm39)	D1840G	unknown	Het
Tubgcp2	T	C	7: 139,580,949 (GRCm39)	H668R	probably benign	Het
Ush2a	C	A	1: 188,460,681 (GRCm39)	N2647K	possibly damaging	Het
Vmn1r14	C	T	6: 57,210,851 (GRCm39)	S143F	probably benign	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Ywhab	T	C	2: 163,855,980 (GRCm39)	F119L	probably damaging	Het
Zmym2	T	A	14: 57,187,659 (GRCm39)	D1108E	probably benign	Het

Other mutations in Or4p19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Or4p19	APN	2	88,242,135 (GRCm39)	missense	probably damaging	0.99
PIT4531001:Or4p19	UTSW	2	88,242,104 (GRCm39)	missense	probably benign	0.03
R0402:Or4p19	UTSW	2	88,242,378 (GRCm39)	missense	probably damaging	0.99
R1196:Or4p19	UTSW	2	88,242,890 (GRCm39)	missense	probably damaging	1.00
R1557:Or4p19	UTSW	2	88,242,555 (GRCm39)	missense	possibly damaging	0.65
R1695:Or4p19	UTSW	2	88,242,444 (GRCm39)	missense	probably damaging	0.98
R1840:Or4p19	UTSW	2	88,242,411 (GRCm39)	missense	probably benign	0.08
R2014:Or4p19	UTSW	2	88,242,388 (GRCm39)	missense	probably benign	0.03
R2042:Or4p19	UTSW	2	88,242,546 (GRCm39)	missense	possibly damaging	0.81
R5241:Or4p19	UTSW	2	88,242,442 (GRCm39)	missense	possibly damaging	0.60
R6043:Or4p19	UTSW	2	88,242,589 (GRCm39)	missense	probably benign	0.01
R7023:Or4p19	UTSW	2	88,242,759 (GRCm39)	missense	probably damaging	1.00
R7269:Or4p19	UTSW	2	88,242,839 (GRCm39)	missense	possibly damaging	0.94
R8711:Or4p19	UTSW	2	88,242,595 (GRCm39)	missense	probably damaging	1.00
R8783:Or4p19	UTSW	2	88,242,951 (GRCm39)	missense	probably benign	0.01
R8784:Or4p19	UTSW	2	88,242,091 (GRCm39)	missense	probably benign	0.00
R8991:Or4p19	UTSW	2	88,242,723 (GRCm39)	missense	probably damaging	1.00
Z1176:Or4p19	UTSW	2	88,242,330 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGCAAACACTTTGTCTTCTGGG -3'
(R):5'- ACCGTTATGTTGCCATCTGC -3'

Sequencing Primer
(F):5'- TCTGATGTAAATGAAGAAAACAGGC -3'
(R):5'- CAGGCCCCTGCACTACACTG -3'

Posted On

2019-05-15