Mutagenetix > Incidental Mutation

Incidental Mutation 'R0121:Or8k38'

163268

Institutional Source

Beutler Lab

Gene Symbol

Or8k38

Ensembl Gene

ENSMUSG00000075176

Gene Name

olfactory receptor family 8 subfamily K member 38

Synonyms

Olfr1085, MOR191-1, GA_x6K02T2Q125-48147264-48146323

MMRRC Submission

038406-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0121 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

86487859-86488800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86488163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 213 (V213A)

Ref Sequence

ENSEMBL: ENSMUSP00000150955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099879] [ENSMUST00000213279] [ENSMUST00000214566]

AlphaFold

Q7TR64

Predicted Effect

probably benign
Transcript: ENSMUST00000099879
AA Change: V213A

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097464
Gene: ENSMUSG00000075176
AA Change: V213A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	4.6e-49	PFAM
Pfam:7tm_1	41	290	1.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213279
AA Change: V213A

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000214566
AA Change: V213A

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

100% (63/63)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,298,945 (GRCm39)		probably null	Het
Adgra3	T	C	5: 50,183,128 (GRCm39)		probably benign	Het
Anxa7	A	T	14: 20,510,227 (GRCm39)	L386M	probably damaging	Het
Ap2b1	A	G	11: 83,212,793 (GRCm39)	M58V	possibly damaging	Het
Arfip2	A	G	7: 105,285,578 (GRCm39)	L224P	probably damaging	Het
Arhgap20	A	G	9: 51,750,251 (GRCm39)	N373S	possibly damaging	Het
Asph	T	C	4: 9,635,918 (GRCm39)	D73G	probably damaging	Het
Atp1a2	T	A	1: 172,116,909 (GRCm39)	E236V	probably damaging	Het
Atp2a1	A	G	7: 126,057,116 (GRCm39)	S170P	probably damaging	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
B4galnt3	C	T	6: 120,191,999 (GRCm39)	R578H	probably benign	Het
Ccdc178	C	A	18: 21,978,081 (GRCm39)		probably null	Het
Ccnh	T	A	13: 85,354,312 (GRCm39)	M252K	probably damaging	Het
Clec4b2	A	G	6: 123,181,131 (GRCm39)	D172G	probably benign	Het
Col1a1	A	G	11: 94,828,895 (GRCm39)	E79G	unknown	Het
Csf3r	A	G	4: 125,923,642 (GRCm39)	N51D	probably benign	Het
Cul7	C	T	17: 46,974,299 (GRCm39)	L1489F	probably damaging	Het
Cyp2b13	G	A	7: 25,786,010 (GRCm39)	C309Y	probably benign	Het
Dync2h1	A	T	9: 7,001,327 (GRCm39)		probably benign	Het
Edn1	A	G	13: 42,458,741 (GRCm39)	T135A	probably benign	Het
Ephb2	A	G	4: 136,498,368 (GRCm39)	I237T	probably damaging	Het
Fam111a	T	A	19: 12,561,444 (GRCm39)	F12L	probably benign	Het
Foxi2	C	A	7: 135,013,640 (GRCm39)	A290E	probably benign	Het
Gabra6	A	G	11: 42,205,798 (GRCm39)	S353P	probably benign	Het
Gm4847	T	C	1: 166,469,857 (GRCm39)	D72G	probably damaging	Het
Grhl3	A	G	4: 135,279,860 (GRCm39)	I398T	probably damaging	Het
Gtdc1	T	C	2: 44,455,550 (GRCm39)		probably benign	Het
Kel	A	C	6: 41,678,998 (GRCm39)		probably benign	Het
L3mbtl3	C	T	10: 26,189,768 (GRCm39)	D499N	unknown	Het
Lama1	T	A	17: 68,105,508 (GRCm39)		probably benign	Het
Mamdc2	T	A	19: 23,288,223 (GRCm39)	E605V	probably benign	Het
Nolc1	G	A	19: 46,069,817 (GRCm39)		probably benign	Het
Nudt12	A	T	17: 59,314,634 (GRCm39)	S317T	possibly damaging	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or4k35	A	T	2: 111,100,659 (GRCm39)	C18S	probably benign	Het
Or5w20	A	G	2: 87,727,434 (GRCm39)	K297R	possibly damaging	Het
Or8g23	T	A	9: 38,971,056 (GRCm39)	K302M	probably damaging	Het
Pbld1	C	T	10: 62,907,282 (GRCm39)		probably benign	Het
Prl8a9	T	G	13: 27,744,589 (GRCm39)	N84T	probably benign	Het
Psph	T	A	5: 129,868,633 (GRCm39)		probably benign	Het
Sbf2	A	G	7: 110,088,426 (GRCm39)		probably null	Het
Senp6	A	G	9: 80,023,952 (GRCm39)	D405G	probably benign	Het
Serpinb1a	T	A	13: 33,032,754 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,556,086 (GRCm39)	I287V	probably benign	Het
Sptbn2	T	C	19: 4,795,321 (GRCm39)	F1593S	probably damaging	Het
Tcf21	T	C	10: 22,695,706 (GRCm39)	T33A	probably benign	Het
Tdrd3	A	T	14: 87,776,915 (GRCm39)	Q727L	probably damaging	Het
Tecpr1	C	T	5: 144,147,017 (GRCm39)	E450K	probably benign	Het
Tenm3	G	A	8: 48,795,694 (GRCm39)	T532I	probably damaging	Het
Tg	A	T	15: 66,612,630 (GRCm39)	Q396L	probably benign	Het
Tmtc3	A	G	10: 100,294,770 (GRCm39)		probably benign	Het
Twnk	T	C	19: 44,997,704 (GRCm39)		probably benign	Het
Ubac1	A	G	2: 25,898,871 (GRCm39)		probably null	Het
Ubn2	T	C	6: 38,429,793 (GRCm39)		probably benign	Het
Zfp944	T	A	17: 22,558,249 (GRCm39)	T333S	possibly damaging	Het

Other mutations in Or8k38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Or8k38	APN	2	86,488,070 (GRCm39)	missense	probably damaging	0.98
IGL01137:Or8k38	APN	2	86,488,055 (GRCm39)	missense	possibly damaging	0.92
IGL01329:Or8k38	APN	2	86,488,551 (GRCm39)	missense	probably benign	0.31
IGL01398:Or8k38	APN	2	86,488,032 (GRCm39)	missense	probably damaging	1.00
IGL02248:Or8k38	APN	2	86,488,061 (GRCm39)	missense	probably damaging	1.00
IGL02699:Or8k38	APN	2	86,488,691 (GRCm39)	missense	probably benign	0.34
IGL02818:Or8k38	APN	2	86,488,128 (GRCm39)	missense	probably damaging	1.00
IGL03095:Or8k38	APN	2	86,488,775 (GRCm39)	missense	possibly damaging	0.50
IGL03218:Or8k38	APN	2	86,488,703 (GRCm39)	missense	probably benign	0.32
R0546:Or8k38	UTSW	2	86,488,235 (GRCm39)	missense	possibly damaging	0.91
R0583:Or8k38	UTSW	2	86,488,704 (GRCm39)	missense	probably benign	0.20
R0980:Or8k38	UTSW	2	86,488,209 (GRCm39)	missense	probably benign	0.39
R2067:Or8k38	UTSW	2	86,488,781 (GRCm39)	missense	probably damaging	1.00
R2111:Or8k38	UTSW	2	86,488,781 (GRCm39)	missense	probably damaging	1.00
R3760:Or8k38	UTSW	2	86,488,232 (GRCm39)	missense	possibly damaging	0.91
R4530:Or8k38	UTSW	2	86,487,905 (GRCm39)	missense	probably benign	0.00
R4809:Or8k38	UTSW	2	86,488,029 (GRCm39)	missense	possibly damaging	0.95
R5940:Or8k38	UTSW	2	86,488,394 (GRCm39)	missense	probably damaging	0.98
R6027:Or8k38	UTSW	2	86,488,148 (GRCm39)	missense	probably damaging	1.00
R6417:Or8k38	UTSW	2	86,488,510 (GRCm39)	nonsense	probably null
R6420:Or8k38	UTSW	2	86,488,510 (GRCm39)	nonsense	probably null
R6619:Or8k38	UTSW	2	86,488,406 (GRCm39)	missense	probably damaging	1.00
R6762:Or8k38	UTSW	2	86,488,188 (GRCm39)	missense	probably benign	0.22
R6946:Or8k38	UTSW	2	86,487,932 (GRCm39)	missense	probably damaging	1.00
R7673:Or8k38	UTSW	2	86,488,070 (GRCm39)	missense	probably damaging	1.00
R7718:Or8k38	UTSW	2	86,488,373 (GRCm39)	missense	probably benign	0.26
R8461:Or8k38	UTSW	2	86,487,890 (GRCm39)	missense	probably benign	0.02
R8506:Or8k38	UTSW	2	86,488,745 (GRCm39)	missense	probably benign	0.05
R8977:Or8k38	UTSW	2	86,488,472 (GRCm39)	missense	probably benign	0.02
R9172:Or8k38	UTSW	2	86,487,879 (GRCm39)	missense	probably benign	0.00
R9211:Or8k38	UTSW	2	86,488,024 (GRCm39)	nonsense	probably null
R9337:Or8k38	UTSW	2	86,488,476 (GRCm39)	missense	probably benign	0.01
R9713:Or8k38	UTSW	2	86,488,041 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TGACTGGACTTGGGCTGCACATAC -3'
(R):5'- TGAAAGGCATCACTGACCGTCCTG -3'

Sequencing Primer
(F):5'- CTTGGGCTGCACATACATAAATATC -3'
(R):5'- GTGGCGGTCCCATATATCTACAG -3'

Posted On

2014-03-26