Mutagenetix > Incidental Mutation

Incidental Mutation 'R6189:Or8u10'

502356

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

044329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85915074-85916198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85915257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 288 (M288K)

Ref Sequence

ENSEMBL: ENSMUSP00000150319 (fasta)

Gene Model

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

AlphaFold

Q7TR84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099911
AA Change: M288K

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097495
Gene: ENSMUSG00000075205
AA Change: M288K

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

possibly damaging
Transcript: ENSMUST00000213333
AA Change: M288K

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216020
AA Change: M288K

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216886
AA Change: M288K

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (74/76)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,474,222 (GRCm39)		probably benign	Het
Abca8a	T	C	11: 109,921,710 (GRCm39)	D1448G	probably damaging	Het
Actn2	C	T	13: 12,291,326 (GRCm39)	D693N	probably damaging	Het
Adam3	A	C	8: 25,201,352 (GRCm39)	I267R	probably benign	Het
Aldh1l2	A	G	10: 83,343,877 (GRCm39)		probably null	Het
C4bp	T	C	1: 130,564,556 (GRCm39)	Y376C	probably damaging	Het
Cacna1h	A	G	17: 25,616,818 (GRCm39)	W101R	probably damaging	Het
Ccdc97	T	A	7: 25,415,523 (GRCm39)	T47S	probably benign	Het
Cenatac	G	A	9: 44,321,618 (GRCm39)	R328C	probably benign	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cntnap2	T	A	6: 47,248,232 (GRCm39)	S1213T	probably damaging	Het
Cxcl10	A	T	5: 92,495,972 (GRCm39)	L55Q	probably benign	Het
Cyp1a1	T	C	9: 57,607,966 (GRCm39)	V198A	probably damaging	Het
Dclre1b	A	G	3: 103,710,849 (GRCm39)	V354A	probably damaging	Het
Dmxl1	C	T	18: 50,026,402 (GRCm39)	H1837Y	probably benign	Het
Dnajc13	G	C	9: 104,091,085 (GRCm39)	D665E	probably benign	Het
Dnmbp	T	C	19: 43,878,748 (GRCm39)	T108A	probably benign	Het
Dnmbp	T	A	19: 43,889,950 (GRCm39)	T606S	probably benign	Het
Dok5	T	A	2: 170,642,771 (GRCm39)	I23N	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha5	A	T	5: 84,385,399 (GRCm39)	F311I	probably damaging	Het
Erbb4	T	A	1: 68,083,075 (GRCm39)	M1059L	probably benign	Het
Fbxo40	A	G	16: 36,786,526 (GRCm39)	I681T	probably benign	Het
Flg2	T	A	3: 93,127,381 (GRCm39)	C2098S	unknown	Het
Gpr87	T	A	3: 59,086,650 (GRCm39)	D285V	probably damaging	Het
Hrh1	T	A	6: 114,456,959 (GRCm39)	V80D	probably damaging	Het
Hunk	G	A	16: 90,284,769 (GRCm39)	R351K	probably benign	Het
Ifna12	A	G	4: 88,521,248 (GRCm39)	W100R	probably damaging	Het
Ift57	G	A	16: 49,584,176 (GRCm39)	G310S	probably damaging	Het
Igf1r	T	A	7: 67,857,084 (GRCm39)	Y1015*	probably null	Het
Igkv14-130	T	C	6: 67,768,432 (GRCm39)	I96T	probably damaging	Het
Il34	C	T	8: 111,469,350 (GRCm39)	S155N	probably benign	Het
Itga7	T	C	10: 128,786,272 (GRCm39)	S938P	possibly damaging	Het
Itgam	A	G	7: 127,711,676 (GRCm39)	M764V	probably benign	Het
Lao1	T	A	4: 118,825,077 (GRCm39)	M299K	probably benign	Het
Lnpep	A	T	17: 17,787,001 (GRCm39)	S533T	possibly damaging	Het
Lrp4	T	C	2: 91,305,579 (GRCm39)	V283A	possibly damaging	Het
Magi3	G	T	3: 103,958,181 (GRCm39)	H635N	probably damaging	Het
Mecr	A	T	4: 131,592,565 (GRCm39)		probably null	Het
Mgrn1	T	C	16: 4,728,674 (GRCm39)		probably null	Het
Mical2	A	C	7: 112,012,087 (GRCm39)	N646H	probably damaging	Het
Mymk	C	T	2: 26,957,377 (GRCm39)	V39I	possibly damaging	Het
Nav3	T	C	10: 109,555,880 (GRCm39)	S1684G	probably damaging	Het
Ntn5	A	T	7: 45,342,644 (GRCm39)	D330V	probably benign	Het
Nup42	G	T	5: 24,380,452 (GRCm39)	G149V	probably damaging	Het
Nutm2	T	A	13: 50,623,774 (GRCm39)	V157D	possibly damaging	Het
Obscn	T	C	11: 58,960,760 (GRCm39)	I3460V	probably benign	Het
Pakap	A	G	4: 57,855,928 (GRCm39)	E419G	probably benign	Het
Pcdh15	C	T	10: 74,178,483 (GRCm39)	A580V	probably null	Het
Pcdhb10	T	A	18: 37,545,456 (GRCm39)	H177Q	probably damaging	Het
Pitx2	T	C	3: 129,012,118 (GRCm39)	Y130H	probably damaging	Het
Pmch	G	T	10: 87,927,248 (GRCm39)		probably null	Het
Pofut2	T	A	10: 77,104,420 (GRCm39)	I399N	probably damaging	Het
Prr36	C	A	8: 4,264,177 (GRCm39)		probably benign	Het
Ptprq	C	A	10: 107,353,748 (GRCm39)	C2256F	probably damaging	Het
Rassf5	G	A	1: 131,172,716 (GRCm39)	A51V	probably damaging	Het
Retnla	A	G	16: 48,663,258 (GRCm39)	I54V	probably benign	Het
Rimbp2	A	G	5: 128,880,961 (GRCm39)	L142P	probably benign	Het
Ripk1	A	G	13: 34,216,484 (GRCm39)	T564A	probably benign	Het
Robo4	G	A	9: 37,314,829 (GRCm39)	E228K	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Rusc1	A	T	3: 88,996,319 (GRCm39)	L132Q	probably damaging	Het
Serpinb9h	A	T	13: 33,588,427 (GRCm39)	E337D	probably benign	Het
Setd1a	T	C	7: 127,377,455 (GRCm39)		probably null	Het
Slc38a6	A	T	12: 73,356,970 (GRCm39)	K122M	probably damaging	Het
Speer4a2	A	G	5: 26,290,691 (GRCm39)	I160T	probably benign	Het
Susd5	A	T	9: 113,924,726 (GRCm39)	D203V	probably damaging	Het
Trip4	G	A	9: 65,786,434 (GRCm39)	R110*	probably null	Het
Tuba4a	T	A	1: 75,193,518 (GRCm39)	I95F	probably benign	Het
Ube2q2	T	A	9: 55,070,267 (GRCm39)	S70T	probably benign	Het
Umodl1	A	G	17: 31,215,256 (GRCm39)	I1027V	possibly damaging	Het
Unc80	G	A	1: 66,716,630 (GRCm39)	V2917I	probably benign	Het
Vmn1r70	T	A	7: 10,367,598 (GRCm39)	C29S	probably benign	Het
Vmn2r94	A	T	17: 18,477,996 (GRCm39)	D138E	probably benign	Het
Wee2	C	T	6: 40,426,617 (GRCm39)	H129Y	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp872	A	T	9: 22,108,427 (GRCm39)	D42V	probably benign	Het
Zic5	T	G	14: 122,702,386 (GRCm39)	D115A	unknown	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
R4832:Or8u10	UTSW	2	85,915,190 (GRCm39)	missense	probably benign	0.00
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
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'- TCTTGTCTTGCTAGAGAACGC -3'
(R):5'- TGGCTGCTATCTTAAGAATCCAG -3'

Sequencing Primer
(F):5'- CGCTAGCATGCAAAACGTG -3'
(R):5'- TGCTATCTTAAGAATCCAGTCCACAG -3'

Posted On

2018-02-27