Mutagenetix > Incidental Mutation

Incidental Mutation 'R7552:Or4c10'

584446

Institutional Source

Beutler Lab

Gene Symbol

Or4c10

Ensembl Gene

ENSMUSG00000049149

Gene Name

olfactory receptor family 4 subfamily C member 10

Synonyms

GA_x6K02T2Q125-51361752-51362687, MOR232-3, Olfr1258

MMRRC Submission

045621-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7552 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89752288-89761090 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89761064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 304 (D304Y)

Ref Sequence

ENSEMBL: ENSMUSP00000099669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102609] [ENSMUST00000111516] [ENSMUST00000213720]

AlphaFold

Q8VGN6

Predicted Effect

probably benign
Transcript: ENSMUST00000102609
AA Change: D304Y

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099669
Gene: ENSMUSG00000049149
AA Change: D304Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.6e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	299	3.4e-5	PFAM
Pfam:7tm_1	39	285	6.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111516
AA Change: D304Y

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107141
Gene: ENSMUSG00000049149
AA Change: D304Y

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	33	299	3.4e-5	PFAM
Pfam:7tm_1	39	285	4.9e-32	PFAM
Pfam:7tm_4	137	278	2.7e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213720
AA Change: D304Y

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (89/89)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	G	10: 80,419,737 (GRCm39)	Y290H	probably benign	Het
Aco2	T	C	15: 81,788,142 (GRCm39)	V257A	probably damaging	Het
Adam26a	C	A	8: 44,023,007 (GRCm39)	C161F	possibly damaging	Het
Adam9	G	A	8: 25,445,988 (GRCm39)	P820S	unknown	Het
Adcy4	G	A	14: 56,010,922 (GRCm39)	T665M	probably benign	Het
Ahnak	T	A	19: 8,984,188 (GRCm39)	M1824K	probably benign	Het
Alpi	T	C	1: 87,026,795 (GRCm39)	N428D	probably benign	Het
Ano5	C	T	7: 51,196,528 (GRCm39)	P153L	probably benign	Het
Atp1a1	A	T	3: 101,489,437 (GRCm39)	L725*	probably null	Het
Atp8b2	G	A	3: 89,854,071 (GRCm39)	T595I	probably damaging	Het
Ccdc66	T	C	14: 27,220,820 (GRCm39)	I35V	possibly damaging	Het
Cd163	A	G	6: 124,284,187 (GRCm39)	T120A	probably benign	Het
Cmah	A	T	13: 24,640,938 (GRCm39)	T396S	possibly damaging	Het
Cmya5	C	T	13: 93,205,820 (GRCm39)	V3350I	probably benign	Het
Commd9	A	C	2: 101,731,410 (GRCm39)	K198N	probably damaging	Het
Cxcr1	A	G	1: 74,231,773 (GRCm39)	V83A	probably benign	Het
D630045J12Rik	A	G	6: 38,125,383 (GRCm39)	S1544P	probably damaging	Het
Ddt	A	T	10: 75,609,048 (GRCm39)		probably null	Het
Depdc7	A	G	2: 104,557,585 (GRCm39)	S222P	possibly damaging	Het
Ehd2	A	G	7: 15,684,431 (GRCm39)	I456T	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Esr1	G	A	10: 4,806,903 (GRCm39)	R273H	probably damaging	Het
Fras1	G	A	5: 96,916,297 (GRCm39)	D3444N	probably damaging	Het
Hand2	A	G	8: 57,775,272 (GRCm39)	R111G	probably damaging	Het
Hecw1	A	T	13: 14,490,835 (GRCm39)	V306E	probably damaging	Het
Ift140	T	C	17: 25,252,089 (GRCm39)	I312T	probably benign	Het
Ikbke	A	T	1: 131,199,887 (GRCm39)	L257*	probably null	Het
Kcnk5	G	A	14: 20,192,349 (GRCm39)	P271S	probably benign	Het
Lama1	T	C	17: 68,044,662 (GRCm39)	V187A		Het
Lemd2	A	T	17: 27,412,810 (GRCm39)		probably null	Het
Lig3	T	A	11: 82,679,717 (GRCm39)	D341E	probably benign	Het
Lpcat1	C	T	13: 73,643,014 (GRCm39)	S196L	probably damaging	Het
Lrp1b	A	T	2: 40,567,582 (GRCm39)	D4048E		Het
Lrrfip1	G	A	1: 91,033,005 (GRCm39)	E158K	probably damaging	Het
Mcm5	T	C	8: 75,848,220 (GRCm39)	S490P	probably damaging	Het
Mia3	A	C	1: 183,147,036 (GRCm39)	Y73*	probably null	Het
Minar1	T	A	9: 89,483,888 (GRCm39)	H503L	probably benign	Het
Msr1	A	T	8: 40,077,003 (GRCm39)	N202K	probably benign	Het
N4bp2l2	A	T	5: 150,585,286 (GRCm39)	Y231*	probably null	Het
Nbeal2	A	G	9: 110,482,985 (GRCm39)	W11R	probably benign	Het
Ncor1	T	C	11: 62,264,250 (GRCm39)	E384G	possibly damaging	Het
Neb	A	G	2: 52,137,202 (GRCm39)	V254A		Het
Nlrp9b	T	C	7: 19,779,691 (GRCm39)	S785P	probably benign	Het
Oprd1	T	G	4: 131,841,092 (GRCm39)	I289L	possibly damaging	Het
Or4s2	A	G	2: 88,473,752 (GRCm39)	I214V	probably benign	Het
Or5m12	A	G	2: 85,734,447 (GRCm39)	V317A	probably benign	Het
Or6a2	T	C	7: 106,600,534 (GRCm39)	T178A	probably benign	Het
Or6c2	T	A	10: 129,362,429 (GRCm39)	F111Y	possibly damaging	Het
Orc1	A	G	4: 108,445,951 (GRCm39)	N23S	probably benign	Het
Paip1	A	T	13: 119,577,356 (GRCm39)	H149L	possibly damaging	Het
Pdhx	A	T	2: 102,877,099 (GRCm39)	D103E	probably benign	Het
Pi4ka	T	C	16: 17,109,080 (GRCm39)	Y1614C		Het
Pias3	ACC	AC	3: 96,608,701 (GRCm39)		probably null	Het
Pigb	A	G	9: 72,941,770 (GRCm39)	V163A	probably benign	Het
Pla2g4d	A	G	2: 120,114,620 (GRCm39)	I37T	possibly damaging	Het
Ppfia1	A	T	7: 144,059,982 (GRCm39)	V610D	probably damaging	Het
Pramel41	G	A	5: 94,596,394 (GRCm39)	C477Y	probably damaging	Het
Prss1	T	C	6: 41,439,507 (GRCm39)	V80A	probably benign	Het
Psph	G	A	5: 129,847,800 (GRCm39)	R49W	probably benign	Het
Qrich2	T	C	11: 116,347,080 (GRCm39)	Y1248C	possibly damaging	Het
Rlbp1	T	A	7: 79,029,861 (GRCm39)	Y124F	probably damaging	Het
Scn4a	T	A	11: 106,239,995 (GRCm39)	E74V	probably benign	Het
Sdk2	A	T	11: 113,764,039 (GRCm39)	I249N	possibly damaging	Het
Sgsh	A	T	11: 119,237,378 (GRCm39)	L412Q	probably damaging	Het
Shank1	C	A	7: 44,002,452 (GRCm39)	D1390E	probably benign	Het
Slc12a6	A	G	2: 112,172,319 (GRCm39)	D421G	probably damaging	Het
Snx29	T	A	16: 11,238,649 (GRCm39)		probably null	Het
Spata31d1c	A	G	13: 65,183,937 (GRCm39)	Y493C	probably damaging	Het
Stmn4	G	A	14: 66,593,727 (GRCm39)	G40E	probably damaging	Het
Stox2	A	G	8: 47,656,154 (GRCm39)		probably null	Het
Strada	T	C	11: 106,077,830 (GRCm39)	S45G	unknown	Het
Taco1	G	A	11: 105,962,774 (GRCm39)	G154S	probably benign	Het
Tas2r121	T	C	6: 132,677,505 (GRCm39)	M156V	probably benign	Het
Tbc1d31	A	G	15: 57,804,136 (GRCm39)	S384G	probably benign	Het
Tbc1d9	A	T	8: 83,966,560 (GRCm39)	D387V	probably damaging	Het
Tet3	A	G	6: 83,345,289 (GRCm39)	L1716P	probably damaging	Het
Thbs1	A	G	2: 117,943,843 (GRCm39)	K154E	possibly damaging	Het
Ush2a	T	C	1: 187,999,241 (GRCm39)	Y184H	possibly damaging	Het
Vmn1r235	C	A	17: 21,481,713 (GRCm39)	Q13K	probably benign	Het
Vmn2r15	A	T	5: 109,440,774 (GRCm39)	Y361*	probably null	Het
Vmn2r88	A	T	14: 51,648,315 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,248,831 (GRCm39)	V460A	probably benign	Het
Wdr64	A	G	1: 175,613,147 (GRCm39)	N674S	possibly damaging	Het
Zfp592	A	G	7: 80,673,390 (GRCm39)	D118G	probably benign	Het
Zfp763	A	G	17: 33,237,625 (GRCm39)	Y507H	probably benign	Het
Zfp934	T	C	13: 62,640,705 (GRCm39)	E16G	probably damaging	Het
Zfyve26	G	A	12: 79,337,731 (GRCm39)	L94F	probably damaging	Het

Other mutations in Or4c10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02386:Or4c10	APN	2	89,760,888 (GRCm39)	missense	probably damaging	0.96
IGL02552:Or4c10	APN	2	89,760,903 (GRCm39)	missense	probably benign	0.01
IGL03300:Or4c10	APN	2	89,760,571 (GRCm39)	nonsense	probably null
R0081:Or4c10	UTSW	2	89,760,423 (GRCm39)	missense	possibly damaging	0.90
R0197:Or4c10	UTSW	2	89,760,545 (GRCm39)	missense	probably benign	0.00
R0701:Or4c10	UTSW	2	89,760,545 (GRCm39)	missense	probably benign	0.00
R0883:Or4c10	UTSW	2	89,760,545 (GRCm39)	missense	probably benign	0.00
R1163:Or4c10	UTSW	2	89,760,449 (GRCm39)	missense	possibly damaging	0.78
R1833:Or4c10	UTSW	2	89,760,645 (GRCm39)	nonsense	probably null
R1846:Or4c10	UTSW	2	89,761,010 (GRCm39)	missense	possibly damaging	0.45
R4504:Or4c10	UTSW	2	89,760,695 (GRCm39)	missense	possibly damaging	0.89
R4507:Or4c10	UTSW	2	89,760,695 (GRCm39)	missense	possibly damaging	0.89
R4679:Or4c10	UTSW	2	89,761,008 (GRCm39)	missense	possibly damaging	0.63
R4908:Or4c10	UTSW	2	89,760,923 (GRCm39)	missense	probably benign	0.00
R5430:Or4c10	UTSW	2	89,760,257 (GRCm39)	missense	probably benign	0.00
R6836:Or4c10	UTSW	2	89,760,683 (GRCm39)	missense	probably damaging	1.00
R7709:Or4c10	UTSW	2	89,760,225 (GRCm39)	missense	probably benign	0.00
R8060:Or4c10	UTSW	2	89,760,693 (GRCm39)	missense	probably benign	0.04
R8349:Or4c10	UTSW	2	89,760,878 (GRCm39)	missense	possibly damaging	0.48
R8449:Or4c10	UTSW	2	89,760,878 (GRCm39)	missense	possibly damaging	0.48
Z1177:Or4c10	UTSW	2	89,760,942 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCACATAACAGTTGTTGTCTTG -3'
(R):5'- TGCAGCTCACCTGTAAAATGG -3'

Sequencing Primer
(F):5'- AACAGTTGTTGTCTTGTTTTTCGTAC -3'
(R):5'- GACAATCAACACATATTGACTGAAGC -3'

Posted On

2019-10-17