Mutagenetix > Incidental Mutation

Incidental Mutation 'R7300:Or2y1c'

566935

Institutional Source

Beutler Lab

Gene Symbol

Or2y1c

Ensembl Gene

ENSMUSG00000108167

Gene Name

olfactory receptor family 2 subfamily Y member 1C

Synonyms

GA_x6K02T2QP88-5964781-5963852, Olfr1386, MOR256-50

MMRRC Submission

045404-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R7300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49360881-49362008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49361473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 165 (T165I)

Ref Sequence

ENSEMBL: ENSMUSP00000145320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071905] [ENSMUST00000204518] [ENSMUST00000213674]

AlphaFold

Q7TQT0

Predicted Effect

probably benign
Transcript: ENSMUST00000071905
AA Change: T165I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000071801
Gene: ENSMUSG00000108167
AA Change: T165I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1.2e-49	PFAM
Pfam:7TM_GPCR_Srsx	35	227	1.2e-5	PFAM
Pfam:7tm_1	41	289	7.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204518
AA Change: T165I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000145320
Gene: ENSMUSG00000108167
AA Change: T165I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1.2e-49	PFAM
Pfam:7TM_GPCR_Srsx	35	227	1.2e-5	PFAM
Pfam:7tm_1	41	289	7.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213674
AA Change: T165I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

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

Validation Efficiency

94% (45/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Adgrd1	T	C	5: 129,174,411 (GRCm39)		probably null	Het
Atr	T	C	9: 95,747,423 (GRCm39)	I235T	probably benign	Het
Bpifb5	A	G	2: 154,070,066 (GRCm39)	E172G	possibly damaging	Het
Btbd2	A	T	10: 80,480,100 (GRCm39)	I420N	probably damaging	Het
Ccdc141	G	A	2: 76,845,038 (GRCm39)	T1343I	probably benign	Het
Cd59b	A	T	2: 103,914,795 (GRCm39)	K64N	possibly damaging	Het
Cd63	A	G	10: 128,748,034 (GRCm39)	N144S	probably benign	Het
Cip2a	A	G	16: 48,834,217 (GRCm39)	K631E	probably damaging	Het
Col4a4	C	T	1: 82,464,361 (GRCm39)	R989Q	unknown	Het
Cyp4a31	A	G	4: 115,427,468 (GRCm39)	T225A	probably benign	Het
Dnah1	T	G	14: 30,991,798 (GRCm39)	E3068A	probably benign	Het
Fpgt	C	T	3: 154,792,612 (GRCm39)	V472I	probably damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Homer3	T	C	8: 70,737,953 (GRCm39)	M1T	probably null	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Il17ra	A	G	6: 120,459,063 (GRCm39)	D738G	probably benign	Het
Il2ra	A	G	2: 11,681,721 (GRCm39)	T109A	not run	Het
Itgb6	T	C	2: 60,435,650 (GRCm39)	D700G	probably benign	Het
Krt31	T	C	11: 99,938,612 (GRCm39)	E327G	probably damaging	Het
Large1	A	C	8: 73,564,224 (GRCm39)	L514R	probably damaging	Het
Map3k8	C	T	18: 4,349,076 (GRCm39)	V81M	probably damaging	Het
Mstn	T	C	1: 53,103,239 (GRCm39)	S192P	probably benign	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or13a27	A	T	7: 139,925,268 (GRCm39)	N211K	probably damaging	Het
Or2n1c	A	C	17: 38,519,588 (GRCm39)	T151P	possibly damaging	Het
Or52i2	A	G	7: 102,319,417 (GRCm39)	S97G	probably benign	Het
Or7g17	T	C	9: 18,768,530 (GRCm39)	I194T	not run	Het
Or8k25	T	C	2: 86,244,330 (GRCm39)	E22G	probably null	Het
Pde4a	T	C	9: 21,117,618 (GRCm39)	S627P	probably damaging	Het
Pdxdc1	A	G	16: 13,697,374 (GRCm39)	I102T	probably damaging	Het
Phldb2	A	G	16: 45,645,925 (GRCm39)	S174P	probably damaging	Het
Pla2g4e	C	T	2: 120,021,680 (GRCm39)	V143I	probably damaging	Het
Pou4f2	C	T	8: 79,162,735 (GRCm39)		probably null	Het
Ppl	C	T	16: 4,920,235 (GRCm39)	V387M	possibly damaging	Het
Pramel43	A	T	5: 94,760,655 (GRCm39)	D340E	probably benign	Het
Rarg	A	T	15: 102,160,852 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,758,936 (GRCm39)	Y3414C	probably damaging	Het
Serpinb8	T	A	1: 107,535,053 (GRCm39)	*375K	probably null	Het
Sim1	C	T	10: 50,785,614 (GRCm39)	H228Y	probably benign	Het
Spag4	A	T	2: 155,907,541 (GRCm39)	H87L	probably benign	Het
Ttc17	A	T	2: 94,205,479 (GRCm39)	L289Q	probably damaging	Het
Ubac2	T	C	14: 122,142,586 (GRCm39)	L28P	probably damaging	Het
Vmn2r31	C	A	7: 7,387,775 (GRCm39)	A599S	possibly damaging	Het
Vps13c	T	C	9: 67,847,826 (GRCm39)	V2196A	probably benign	Het
Zswim5	A	T	4: 116,833,102 (GRCm39)	I612F	probably damaging	Het
Zzef1	T	A	11: 72,765,830 (GRCm39)	H1452Q	probably benign	Het

Other mutations in Or2y1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01383:Or2y1c	APN	11	49,361,880 (GRCm39)	missense	probably benign	0.00
IGL02698:Or2y1c	APN	11	49,361,690 (GRCm39)	missense	probably benign	0.02
IGL02727:Or2y1c	APN	11	49,361,893 (GRCm39)	missense	probably benign	0.04
R0826:Or2y1c	UTSW	11	49,361,158 (GRCm39)	missense	probably damaging	1.00
R1512:Or2y1c	UTSW	11	49,361,286 (GRCm39)	missense	probably benign	0.00
R1822:Or2y1c	UTSW	11	49,361,795 (GRCm39)	missense	probably benign	0.03
R1942:Or2y1c	UTSW	11	49,360,981 (GRCm39)	start codon destroyed	probably null	0.98
R2282:Or2y1c	UTSW	11	49,361,470 (GRCm39)	missense	probably damaging	0.96
R4646:Or2y1c	UTSW	11	49,361,451 (GRCm39)	missense	probably benign	0.00
R4762:Or2y1c	UTSW	11	49,361,112 (GRCm39)	missense	probably damaging	1.00
R4892:Or2y1c	UTSW	11	49,361,043 (GRCm39)	missense	probably benign	0.00
R4968:Or2y1c	UTSW	11	49,361,358 (GRCm39)	missense	probably damaging	1.00
R6882:Or2y1c	UTSW	11	49,361,290 (GRCm39)	missense	probably benign
R7107:Or2y1c	UTSW	11	49,361,261 (GRCm39)	nonsense	probably null
R7308:Or2y1c	UTSW	11	49,360,754 (GRCm39)	start gained	probably benign
R8876:Or2y1c	UTSW	11	49,361,386 (GRCm39)	missense	probably damaging	0.97
R8901:Or2y1c	UTSW	11	49,361,035 (GRCm39)	missense	probably damaging	1.00
R9048:Or2y1c	UTSW	11	49,361,880 (GRCm39)	missense	probably benign	0.00
R9641:Or2y1c	UTSW	11	49,361,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCCACTGAGTGTGTGCTC -3'
(R):5'- CCACATGTCCCAAAAGCTTTTCTG -3'

Sequencing Primer
(F):5'- CCTGGTAGTGATGGCTTTTGACC -3'
(R):5'- AAAAGCTTTTCTGCGTCCAG -3'

Posted On

2019-06-26