Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Or8u10'

372881

Institutional Source

Beutler Lab

Gene Symbol

Or8u10

Ensembl Gene

ENSMUSG00000075205

Gene Name

olfactory receptor family 8 subfamily U member 10

Synonyms

MOR171-52, GA_x6K02T2Q125-47560740-47559775, Olfr1037, MOR256-34P

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85915074-85916198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85915190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 310 (L310F)

Ref Sequence

ENSEMBL: ENSMUSP00000150319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099911] [ENSMUST00000213333] [ENSMUST00000216020] [ENSMUST00000216886]

AlphaFold

Q7TR84

Predicted Effect

probably benign
Transcript: ENSMUST00000099911
AA Change: L310F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097495
Gene: ENSMUSG00000075205
AA Change: L310F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.8e-54	PFAM
Pfam:7tm_1	41	290	1.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213333
AA Change: L310F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216020
AA Change: L310F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216886
AA Change: L310F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,597 (GRCm39)	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,019,409 (GRCm39)	M198K	probably damaging	Het
4933402J07Rik	A	G	8: 88,294,601 (GRCm39)	K84R	probably null	Het
Aamdc	T	C	7: 97,199,773 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,617,282 (GRCm39)	V594A	probably damaging	Het
Adamts13	G	A	2: 26,879,414 (GRCm39)	D656N	probably benign	Het
Adcy10	G	T	1: 165,334,213 (GRCm39)	C122F	probably damaging	Het
Adi1	A	G	12: 28,725,252 (GRCm39)	M1V	probably null	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Akt1	G	T	12: 112,623,521 (GRCm39)	P313Q	probably damaging	Het
Ano3	A	T	2: 110,498,067 (GRCm39)	M758K	probably damaging	Het
Baz2a	T	A	10: 127,958,999 (GRCm39)	N1168K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bcap29	A	G	12: 31,674,202 (GRCm39)	I131T	probably benign	Het
Brd10	G	T	19: 29,694,616 (GRCm39)	L1626I	possibly damaging	Het
Btnl6	T	C	17: 34,732,966 (GRCm39)	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,222,524 (GRCm39)	I73T	probably benign	Het
Cdh2	A	G	18: 16,760,754 (GRCm39)	S538P	probably benign	Het
Cfap54	T	A	10: 92,803,390 (GRCm39)	M1551L	probably benign	Het
Chd2	G	A	7: 73,151,873 (GRCm39)	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,073,845 (GRCm39)	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,360,749 (GRCm39)	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,338,098 (GRCm39)	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,534,970 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,366,080 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,917,606 (GRCm39)	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,385,975 (GRCm39)		probably null	Het
Dpp7	A	T	2: 25,242,398 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,780,776 (GRCm39)	I642F	probably damaging	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Fancd2	A	G	6: 113,530,683 (GRCm39)	T439A	probably benign	Het
Fat1	G	A	8: 45,466,102 (GRCm39)	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,223,305 (GRCm39)	A884T	probably benign	Het
Fsip2	A	G	2: 82,820,515 (GRCm39)	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,882,678 (GRCm39)		probably benign	Het
Garre1	T	C	7: 33,938,333 (GRCm39)		probably benign	Het
Gm11544	C	T	11: 94,736,532 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,964 (GRCm39)	K304Q	probably benign	Het
Gpr141b	T	A	13: 19,913,840 (GRCm39)		noncoding transcript	Het
Gramd4	C	T	15: 86,019,057 (GRCm39)	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,589,295 (GRCm39)	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,497,679 (GRCm39)	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,595,219 (GRCm39)	T315I	probably damaging	Het
Haus5	A	T	7: 30,356,452 (GRCm39)	F524I	probably damaging	Het
Herc1	A	G	9: 66,403,253 (GRCm39)	S4391G	probably benign	Het
Herc2	T	A	7: 55,748,165 (GRCm39)	L511*	probably null	Het
Htt	T	A	5: 34,982,184 (GRCm39)	C923S	probably benign	Het
Idua	T	C	5: 108,817,247 (GRCm39)	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,032,466 (GRCm39)	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,248,185 (GRCm39)	K98R	probably benign	Het
Kif15	G	A	9: 122,831,191 (GRCm39)		probably null	Het
Leng9	C	A	7: 4,152,029 (GRCm39)	G216W	probably damaging	Het
Lrpprc	A	G	17: 85,014,584 (GRCm39)	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,544,454 (GRCm39)	E20D	possibly damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Map3k4	C	T	17: 12,490,667 (GRCm39)	E255K	probably damaging	Het
Megf9	G	A	4: 70,452,665 (GRCm39)	T132M	probably damaging	Het
Mob4	T	C	1: 55,184,411 (GRCm39)		probably benign	Het
Mttp	G	A	3: 137,821,811 (GRCm39)	A252V	probably benign	Het
Mxi1	A	G	19: 53,358,745 (GRCm39)	D226G	probably damaging	Het
Myh14	A	G	7: 44,274,566 (GRCm39)	S1249P	probably benign	Het
Mylk	G	A	16: 34,742,737 (GRCm39)	G1083D	probably benign	Het
Mylk4	T	G	13: 32,905,960 (GRCm39)	I408L	probably benign	Het
Nbas	A	G	12: 13,533,740 (GRCm39)	S1792G	probably benign	Het
Nelfb	A	G	2: 25,099,981 (GRCm39)	V212A	probably damaging	Het
Nisch	T	C	14: 30,899,587 (GRCm39)		probably benign	Het
Nqo1	C	G	8: 108,115,477 (GRCm39)	D267H	probably benign	Het
Pcid2	T	A	8: 13,135,425 (GRCm39)	I195F	probably damaging	Het
Pcnx2	A	T	8: 126,478,927 (GRCm39)	M2107K	probably damaging	Het
Pgd	A	T	4: 149,241,048 (GRCm39)		probably benign	Het
Prim2	T	C	1: 33,503,145 (GRCm39)	M430V	probably benign	Het
Prkaa1	A	G	15: 5,190,101 (GRCm39)	T40A	probably damaging	Het
Ptges	T	C	2: 30,793,232 (GRCm39)		probably benign	Het
Ptprn	T	C	1: 75,234,909 (GRCm39)	E226G	probably benign	Het
Rab14	A	G	2: 35,079,978 (GRCm39)	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,684,637 (GRCm39)		probably benign	Het
Rgs11	C	T	17: 26,426,542 (GRCm39)	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,075,774 (GRCm39)		probably null	Het
Rprd2	A	T	3: 95,681,483 (GRCm39)	V452E	probably damaging	Het
Scube3	C	A	17: 28,384,989 (GRCm39)	H646Q	probably damaging	Het
Selp	A	T	1: 163,953,909 (GRCm39)	I70F	probably damaging	Het
Septin2	A	G	1: 93,426,849 (GRCm39)	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,649,905 (GRCm39)	S170N	probably benign	Het
Skint4	A	T	4: 112,000,963 (GRCm39)	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,657,780 (GRCm39)	I41T	possibly damaging	Het
Snai2	T	C	16: 14,524,881 (GRCm39)	F129S	probably damaging	Het
Top3b	C	T	16: 16,708,526 (GRCm39)	R629*	probably null	Het
Trim17	T	A	11: 58,862,270 (GRCm39)	V434E	probably damaging	Het
Ttn	G	A	2: 76,615,327 (GRCm39)	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,239,259 (GRCm39)	I1391N	probably damaging	Het
Usp8	A	T	2: 126,596,958 (GRCm39)	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,534,463 (GRCm39)	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,298,159 (GRCm39)	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,363,976 (GRCm39)	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,332,851 (GRCm39)	I237T	probably damaging	Het
Zan	T	A	5: 137,391,423 (GRCm39)	D4687V	unknown	Het
Zfp273	T	C	13: 67,973,484 (GRCm39)	V204A	probably benign	Het
Zfp956	T	G	6: 47,928,987 (GRCm39)		probably benign	Het

Other mutations in Or8u10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Or8u10	APN	2	85,915,984 (GRCm39)	missense	probably benign	0.05
IGL02534:Or8u10	APN	2	85,915,713 (GRCm39)	missense	probably damaging	1.00
IGL03204:Or8u10	APN	2	85,916,015 (GRCm39)	nonsense	probably null
R0054:Or8u10	UTSW	2	85,915,705 (GRCm39)	missense	probably benign	0.38
R0054:Or8u10	UTSW	2	85,915,705 (GRCm39)	missense	probably benign	0.38
R0131:Or8u10	UTSW	2	85,915,844 (GRCm39)	missense	probably damaging	1.00
R0131:Or8u10	UTSW	2	85,915,844 (GRCm39)	missense	probably damaging	1.00
R0666:Or8u10	UTSW	2	85,915,557 (GRCm39)	missense	probably benign	0.03
R0732:Or8u10	UTSW	2	85,915,928 (GRCm39)	missense	probably benign	0.00
R1167:Or8u10	UTSW	2	85,915,635 (GRCm39)	missense	probably benign	0.16
R1899:Or8u10	UTSW	2	85,916,064 (GRCm39)	missense	probably benign
R3082:Or8u10	UTSW	2	85,916,053 (GRCm39)	missense	probably benign
R3847:Or8u10	UTSW	2	85,915,751 (GRCm39)	nonsense	probably null
R3848:Or8u10	UTSW	2	85,915,751 (GRCm39)	nonsense	probably null
R4079:Or8u10	UTSW	2	85,915,656 (GRCm39)	missense	possibly damaging	0.67
R4193:Or8u10	UTSW	2	85,916,044 (GRCm39)	missense	probably benign	0.01
R5244:Or8u10	UTSW	2	85,915,300 (GRCm39)	missense	probably damaging	1.00
R5643:Or8u10	UTSW	2	85,915,503 (GRCm39)	missense	probably damaging	0.98
R5644:Or8u10	UTSW	2	85,915,503 (GRCm39)	missense	probably damaging	0.98
R5974:Or8u10	UTSW	2	85,915,225 (GRCm39)	missense	probably benign
R6136:Or8u10	UTSW	2	85,915,245 (GRCm39)	missense	probably damaging	1.00
R6189:Or8u10	UTSW	2	85,915,257 (GRCm39)	missense	possibly damaging	0.53
R6483:Or8u10	UTSW	2	85,915,784 (GRCm39)	missense	probably benign	0.00
R6569:Or8u10	UTSW	2	85,915,849 (GRCm39)	missense	possibly damaging	0.87
R6724:Or8u10	UTSW	2	85,915,701 (GRCm39)	missense	possibly damaging	0.81
R6867:Or8u10	UTSW	2	85,916,082 (GRCm39)	missense	possibly damaging	0.59
R7081:Or8u10	UTSW	2	85,915,939 (GRCm39)	missense	probably damaging	1.00
R7207:Or8u10	UTSW	2	85,915,159 (GRCm39)	missense	possibly damaging	0.93
R7436:Or8u10	UTSW	2	85,915,251 (GRCm39)	missense	probably damaging	1.00
R8699:Or8u10	UTSW	2	85,915,518 (GRCm39)	missense	probably damaging	0.98
R9347:Or8u10	UTSW	2	85,915,911 (GRCm39)	missense	possibly damaging	0.78
R9798:Or8u10	UTSW	2	85,915,606 (GRCm39)	missense	probably damaging	0.99
X0062:Or8u10	UTSW	2	85,915,458 (GRCm39)	missense	probably damaging	1.00
Z1088:Or8u10	UTSW	2	85,915,326 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTCATAAAATCAGGCTTGTATGG -3'
(R):5'- TCCCATCTGACTGCTGTGAC -3'

Sequencing Primer
(F):5'- CAGGCTTGTATGGTGTTTTATTCAC -3'
(R):5'- ACTGCTGTGACTATATTCTATGGGAC -3'

Posted On

2016-03-01