Mutagenetix > Incidental Mutation

Incidental Mutation 'R4043:Or6p1'

313903

Institutional Source

Beutler Lab

Gene Symbol

Or6p1

Ensembl Gene

ENSMUSG00000051509

Gene Name

olfactory receptor family 6 subfamily P member 1

Synonyms

MOR103-10, Olfr414, GA_x6K02T2P20D-20749615-20748662

MMRRC Submission

041615-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174257996-174258950 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 174258657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 221 (I221T)

Ref Sequence

ENSEMBL: ENSMUSP00000142051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053178] [ENSMUST00000192358]

AlphaFold

E9Q5P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000053178
AA Change: I221T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052426
Gene: ENSMUSG00000051509
AA Change: I221T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.8e-53	PFAM
Pfam:7tm_1	41	290	8.3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192358
AA Change: I221T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142051
Gene: ENSMUSG00000051509
AA Change: I221T

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	2.9e-29	PFAM
Pfam:7tm_4	139	283	1.1e-45	PFAM

Meta Mutation Damage Score

0.4642

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 92.9%

Validation Efficiency

97% (64/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,409,360 (GRCm39)	N44D	probably benign	Het
AU018091	A	G	7: 3,208,962 (GRCm39)	F375L	probably damaging	Het
Bsph1	G	T	7: 13,192,201 (GRCm39)		probably null	Het
Casp1	A	G	9: 5,302,444 (GRCm39)	D122G	probably benign	Het
Ccdc146	C	T	5: 21,521,941 (GRCm39)	C361Y	probably benign	Het
Cdc37l1	T	C	19: 28,968,028 (GRCm39)	S31P	possibly damaging	Het
Cdca2	A	T	14: 67,941,455 (GRCm39)	M249K	probably benign	Het
Cfap73	C	T	5: 120,768,030 (GRCm39)		probably null	Het
Cgnl1	A	G	9: 71,612,575 (GRCm39)	L749S	probably damaging	Het
Cmtr2	C	A	8: 110,948,462 (GRCm39)	C257*	probably null	Het
Col6a4	A	T	9: 105,949,610 (GRCm39)	L675*	probably null	Het
Cpne8	A	T	15: 90,456,204 (GRCm39)	D186E	probably damaging	Het
Csmd3	A	G	15: 47,619,362 (GRCm39)		probably null	Het
Daglb	T	A	5: 143,472,906 (GRCm39)	Y354N	possibly damaging	Het
Dlgap1	T	C	17: 71,068,075 (GRCm39)	S549P	probably damaging	Het
Dnah11	T	C	12: 117,843,678 (GRCm39)	D4389G	probably damaging	Het
Dst	T	A	1: 34,229,765 (GRCm39)	C2631S	probably benign	Het
Gimap1	T	A	6: 48,720,176 (GRCm39)	W263R	probably damaging	Het
Gne	A	C	4: 44,040,383 (GRCm39)	C594G	possibly damaging	Het
Gtf2a1	T	C	12: 91,542,441 (GRCm39)	H47R	probably benign	Het
Hdac6	T	C	X: 7,797,731 (GRCm39)	T993A	probably benign	Het
Helz2	T	C	2: 180,871,503 (GRCm39)	D2703G	probably benign	Het
Jmjd1c	G	A	10: 67,055,245 (GRCm39)	V222I	possibly damaging	Het
Katnip	A	G	7: 125,467,913 (GRCm39)	I1366V	probably benign	Het
Kndc1	A	G	7: 139,504,044 (GRCm39)	E1116G	probably benign	Het
Krt10	C	T	11: 99,277,819 (GRCm39)		probably null	Het
Lrrc37a	T	G	11: 103,389,479 (GRCm39)	H1982P	possibly damaging	Het
Med13l	T	A	5: 118,731,528 (GRCm39)	L68Q	probably damaging	Het
Megf10	C	A	18: 57,392,870 (GRCm39)	D422E	probably damaging	Het
Mpz	C	T	1: 170,987,340 (GRCm39)		probably benign	Het
Muc5ac	A	T	7: 141,361,215 (GRCm39)	T1508S	possibly damaging	Het
Myo3a	C	T	2: 22,338,350 (GRCm39)		probably benign	Het
Ndnf	A	T	6: 65,680,920 (GRCm39)	N400Y	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or7g35	G	T	9: 19,496,291 (GRCm39)	V153F	probably benign	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pappa	A	G	4: 65,232,824 (GRCm39)	N1321S	probably benign	Het
Patl1	T	A	19: 11,920,314 (GRCm39)	L756Q	probably damaging	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Plekhg2	G	A	7: 28,064,144 (GRCm39)		probably benign	Het
Ppp2r2d	G	A	7: 138,484,145 (GRCm39)	W265*	probably null	Het
Ppp4r3c1	A	G	X: 88,975,909 (GRCm39)	F96S	probably damaging	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Radil	T	A	5: 142,479,988 (GRCm39)	I471F	probably benign	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Het
Rpl10l	A	T	12: 66,330,977 (GRCm39)	M52K	probably damaging	Het
Scn1a	A	T	2: 66,156,380 (GRCm39)	S510T	possibly damaging	Het
Sdad1	T	G	5: 92,450,553 (GRCm39)	N194T	probably damaging	Het
Sel1l3	A	T	5: 53,345,396 (GRCm39)	Y259*	probably null	Het
Slc22a26	T	C	19: 7,765,694 (GRCm39)		probably null	Het
Snap91	C	T	9: 86,659,102 (GRCm39)	G477D	probably damaging	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Srr	T	C	11: 74,799,947 (GRCm39)	T202A	probably benign	Het
Srrm1	C	T	4: 135,068,242 (GRCm39)		probably benign	Het
Trp53bp2	T	A	1: 182,276,626 (GRCm39)	L869Q	possibly damaging	Het
Ttbk1	T	A	17: 46,757,688 (GRCm39)	D982V	probably benign	Het
Ttn	T	C	2: 76,624,501 (GRCm39)	T15324A	probably benign	Het
Ush1c	T	C	7: 45,870,952 (GRCm39)	E276G	probably damaging	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Vps8	A	C	16: 21,345,146 (GRCm39)	D823A	probably damaging	Het
Zfp616	T	A	11: 73,976,108 (GRCm39)	N792K	possibly damaging	Het
Zfpm2	A	T	15: 40,734,023 (GRCm39)	D2V	possibly damaging	Het
Zfyve16	A	C	13: 92,650,271 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,195,765 (GRCm39)		probably benign	Het

Other mutations in Or6p1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Or6p1	APN	1	174,258,908 (GRCm39)	missense	probably benign	0.00
IGL01560:Or6p1	APN	1	174,258,467 (GRCm39)	missense	probably benign	0.17
IGL01795:Or6p1	APN	1	174,258,215 (GRCm39)	missense	possibly damaging	0.83
IGL03286:Or6p1	APN	1	174,258,743 (GRCm39)	missense	probably benign	0.01
PIT4131001:Or6p1	UTSW	1	174,258,390 (GRCm39)	missense	probably damaging	1.00
R0219:Or6p1	UTSW	1	174,258,032 (GRCm39)	missense	probably benign	0.00
R0492:Or6p1	UTSW	1	174,258,129 (GRCm39)	missense	possibly damaging	0.95
R1052:Or6p1	UTSW	1	174,258,701 (GRCm39)	nonsense	probably null
R1054:Or6p1	UTSW	1	174,258,419 (GRCm39)	missense	probably benign	0.36
R1473:Or6p1	UTSW	1	174,258,209 (GRCm39)	missense	probably damaging	0.97
R1675:Or6p1	UTSW	1	174,258,663 (GRCm39)	missense	probably benign
R1774:Or6p1	UTSW	1	174,258,905 (GRCm39)	missense	probably benign	0.00
R1861:Or6p1	UTSW	1	174,258,657 (GRCm39)	missense	probably damaging	1.00
R1959:Or6p1	UTSW	1	174,258,471 (GRCm39)	missense	probably damaging	1.00
R1978:Or6p1	UTSW	1	174,258,657 (GRCm39)	missense	probably damaging	1.00
R5020:Or6p1	UTSW	1	174,258,237 (GRCm39)	missense	probably damaging	0.98
R5354:Or6p1	UTSW	1	174,258,252 (GRCm39)	missense	probably damaging	0.98
R5873:Or6p1	UTSW	1	174,258,348 (GRCm39)	missense	possibly damaging	0.84
R6053:Or6p1	UTSW	1	174,258,135 (GRCm39)	nonsense	probably null
R8300:Or6p1	UTSW	1	174,258,100 (GRCm39)	nonsense	probably null
R9105:Or6p1	UTSW	1	174,258,861 (GRCm39)	missense	probably damaging	1.00
R9716:Or6p1	UTSW	1	174,258,641 (GRCm39)	missense	probably benign	0.21
Z1176:Or6p1	UTSW	1	174,258,157 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- AAGCTGCTTTTCATTTCCAGG -3'
(R):5'- CTCAAGCAGTAGATGGCTGG -3'

Sequencing Primer
(F):5'- CAGGTTATCCTACTGTGGGCC -3'
(R):5'- TCAAGCAGTAGATGGCTGGATTGAG -3'

Posted On

2015-04-30