Mutagenetix > Incidental Mutation

Incidental Mutation 'R9337:Or8k38'

707214

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9337 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86487859-86488800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86488476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 109 (T109A)

Ref Sequence

ENSEMBL: ENSMUSP00000150258 (fasta)

Gene Model

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

AlphaFold

Q7TR64

Predicted Effect

probably benign
Transcript: ENSMUST00000099879
AA Change: T109A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097464
Gene: ENSMUSG00000075176
AA Change: T109A

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: T109A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000214566
AA Change: T109A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (65/65)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adad1	T	C	3: 37,139,247 (GRCm39)	V439A	possibly damaging	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Arhgef10l	G	A	4: 140,338,624 (GRCm39)	T46I	probably damaging	Het
C3ar1	A	G	6: 122,827,278 (GRCm39)	V313A	probably benign	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc30	T	A	4: 119,190,920 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Cept1	A	G	3: 106,412,575 (GRCm39)	L299S	possibly damaging	Het
Clba1	T	C	12: 112,775,898 (GRCm39)	L218P	probably damaging	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Col4a2	T	C	8: 11,479,346 (GRCm39)	L743P	probably benign	Het
Cop1	T	C	1: 159,072,221 (GRCm39)	V179A	probably benign	Het
Cpvl	A	G	6: 53,909,479 (GRCm39)	I219T	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Exosc10	T	C	4: 148,665,588 (GRCm39)	F842L	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Fbn2	G	A	18: 58,342,723 (GRCm39)	A52V	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm13283	T	A	4: 88,679,036 (GRCm39)	V9E	possibly damaging	Het
Gm17026	A	G	14: 42,080,873 (GRCm39)	S58P		Het
Grm8	A	T	6: 27,761,214 (GRCm39)	S337T	probably benign	Het
Hdac5	G	A	11: 102,096,178 (GRCm39)	P332S	probably damaging	Het
Hr	A	T	14: 70,797,324 (GRCm39)	E519V	probably benign	Het
Hspbap1	A	G	16: 35,645,395 (GRCm39)	H360R	probably benign	Het
Iqgap3	T	G	3: 88,023,425 (GRCm39)		probably null	Het
Krtap5-3	T	A	7: 141,756,267 (GRCm39)	H175Q	unknown	Het
Lrrn4	A	T	2: 132,712,552 (GRCm39)	S424T	probably benign	Het
Lsm10	C	A	4: 125,991,660 (GRCm39)	H5Q	probably damaging	Het
Megf10	A	T	18: 57,394,252 (GRCm39)	K459*	probably null	Het
Myo15b	A	C	11: 115,749,861 (GRCm39)	K210N		Het
Or12e7	T	A	2: 87,287,527 (GRCm39)	I6N	probably benign	Het
Park7	A	T	4: 150,991,553 (GRCm39)	C46S	probably damaging	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Plekha1	T	A	7: 130,511,348 (GRCm39)	C311S	possibly damaging	Het
Pprc1	T	A	19: 46,052,198 (GRCm39)	M576K	unknown	Het
Prelid3b	G	A	2: 174,310,161 (GRCm39)	T74M	probably benign	Het
Prg4	T	C	1: 150,327,116 (GRCm39)	Y311C	probably damaging	Het
Prom2	A	C	2: 127,371,094 (GRCm39)	V801G	probably damaging	Het
Psmd9	T	A	5: 123,386,387 (GRCm39)	V44D	probably damaging	Het
Ptpn3	C	G	4: 57,218,521 (GRCm39)	L647F	probably damaging	Het
Ptprj	T	C	2: 90,270,238 (GRCm39)	D1286G	probably damaging	Het
Rcc2	T	C	4: 140,445,689 (GRCm39)	I449T	probably damaging	Het
Rev3l	A	T	10: 39,698,850 (GRCm39)	S1116C	probably benign	Het
Rnf212	A	T	5: 108,922,755 (GRCm39)	S32T	possibly damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Rtf2	A	T	2: 172,308,205 (GRCm39)	K201N	probably damaging	Het
Runx3	A	G	4: 134,890,574 (GRCm39)	T173A	probably damaging	Het
Sardh	T	C	2: 27,086,678 (GRCm39)	I827M	probably benign	Het
Sec22b	T	C	3: 97,828,494 (GRCm39)	Y186H	probably benign	Het
Serpina5	C	T	12: 104,071,542 (GRCm39)	T383I	possibly damaging	Het
Slc12a2	A	G	18: 58,063,238 (GRCm39)	D906G	probably damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Stat1	G	T	1: 52,191,429 (GRCm39)	A595S	probably benign	Het
Stat3	A	T	11: 100,798,815 (GRCm39)		probably null	Het
Styxl1	T	C	5: 135,794,592 (GRCm39)	S82G	probably benign	Het
Taf1b	T	A	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Them5	A	G	3: 94,254,048 (GRCm39)	M257V	unknown	Het
Tln1	A	T	4: 43,532,927 (GRCm39)	I2425N	probably damaging	Het
Tuba8	A	G	6: 121,202,823 (GRCm39)	S379G	probably damaging	Het
Vrk1	T	C	12: 106,024,957 (GRCm39)		probably null	Het
Zbtb34	T	C	2: 33,301,716 (GRCm39)	Y275C	probably damaging	Het
Zcwpw1	T	C	5: 137,799,274 (GRCm39)	C214R	probably benign	Het
Zeb2	A	G	2: 44,912,912 (GRCm39)	V137A	probably benign	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
R0121:Or8k38	UTSW	2	86,488,163 (GRCm39)	missense	probably benign	0.42
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
R9713:Or8k38	UTSW	2	86,488,041 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TCAACCTCATGTGTATTTGAACAGAGC -3'
(R):5'- AATGTGGACTCCAGTCTCCAC -3'

Sequencing Primer
(F):5'- TTGAACAGAGCAAAGATATTAATGGG -3'
(R):5'- GTCTCCACACACCCATGTAC -3'

Posted On

2022-04-18