Mutagenetix > Incidental Mutation

Incidental Mutation 'R7847:Or7a38'

606694

Institutional Source

Beutler Lab

Gene Symbol

Or7a38

Ensembl Gene

ENSMUSG00000094673

Gene Name

olfactory receptor family 7 subfamily A member 38

Synonyms

GA_x6K02T03FR9-4826-3919, Olfr1354, Olfr233-ps1, MOR185-8, EG257869, MOR139-7, MOR139-5, GA_x6K02T2QGN0-2895081-2894349

MMRRC Submission

045901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78752676-78753770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78752730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 19 (S19T)

Ref Sequence

ENSEMBL: ENSMUSP00000144801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075859] [ENSMUST00000204587] [ENSMUST00000217073]

AlphaFold

E9Q5G9

Predicted Effect

probably benign
Transcript: ENSMUST00000075859
AA Change: S19T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000093126
Gene: ENSMUSG00000094673
AA Change: S19T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	2.4e-49	PFAM
Pfam:7tm_1	42	291	3.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204587
AA Change: S19T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000217073
AA Change: S19T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,549 (GRCm39)	Y296N	probably benign	Het
Abcc4	T	C	14: 118,864,892 (GRCm39)	E378G	probably damaging	Het
Acp2	C	T	2: 91,041,077 (GRCm39)	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,770,193 (GRCm39)	C205Y	probably damaging	Het
Alg9	T	C	9: 50,700,905 (GRCm39)	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,511,828 (GRCm39)	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,252,069 (GRCm39)	S940*	probably null	Het
Asb15	C	A	6: 24,564,266 (GRCm39)	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc17	A	G	4: 116,457,103 (GRCm39)	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,597,185 (GRCm39)	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,192,256 (GRCm39)	S391P	probably benign	Het
Dock6	A	T	9: 21,712,503 (GRCm39)	L2086Q	unknown	Het
Ephx1	A	G	1: 180,829,426 (GRCm39)	S41P	probably benign	Het
Erbb3	G	A	10: 128,407,058 (GRCm39)	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Golgb1	A	G	16: 36,752,282 (GRCm39)	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,151,804 (GRCm39)	P52L	possibly damaging	Het
Herc2	T	C	7: 55,807,308 (GRCm39)		probably null	Het
Il17rb	A	G	14: 29,718,763 (GRCm39)	Y440H	probably damaging	Het
Kcng4	A	G	8: 120,352,881 (GRCm39)	L343P	probably damaging	Het
Knl1	G	A	2: 118,901,457 (GRCm39)	E1053K	probably benign	Het
Lipo4	A	T	19: 33,491,599 (GRCm39)	V128E	possibly damaging	Het
Lmntd2	T	C	7: 140,790,063 (GRCm39)	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,042,948 (GRCm39)	L460P	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mtcl1	T	C	17: 66,651,328 (GRCm39)	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,233,198 (GRCm39)	A256T	probably benign	Het
Mup17	T	A	4: 61,511,456 (GRCm39)	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,490,534 (GRCm39)	D175E	probably damaging	Het
Nup210l	A	G	3: 90,058,430 (GRCm39)	M610V	probably benign	Het
Or10ak14	G	T	4: 118,611,565 (GRCm39)	H59N	possibly damaging	Het
Or8g35	A	G	9: 39,381,801 (GRCm39)	S74P	probably benign	Het
Pard3b	A	G	1: 62,383,093 (GRCm39)	D729G	probably benign	Het
Phactr1	T	C	13: 43,210,664 (GRCm39)	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655 (GRCm39)	S762R	probably damaging	Het
Senp5	C	T	16: 31,808,991 (GRCm39)	V88I	probably benign	Het
Specc1l	T	C	10: 75,145,670 (GRCm39)	V1105A	probably damaging	Het
Trak2	A	C	1: 58,974,977 (GRCm39)	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,566,500 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,163,005 (GRCm39)	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,568,063 (GRCm39)	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,164,547 (GRCm39)	F2L	probably benign	Het
Xirp1	G	T	9: 119,848,819 (GRCm39)	D21E	possibly damaging	Het
Zfp114	C	A	7: 23,880,460 (GRCm39)	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,476,114 (GRCm39)	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,663,843 (GRCm39)	H237Q	probably benign	Het

Other mutations in Or7a38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02903:Or7a38	APN	10	78,753,250 (GRCm39)	missense	probably damaging	0.99
IGL02962:Or7a38	APN	10	78,752,773 (GRCm39)	missense	probably damaging	1.00
IGL03032:Or7a38	APN	10	78,753,471 (GRCm39)	missense	probably benign	0.21
PIT4495001:Or7a38	UTSW	10	78,752,821 (GRCm39)	missense	probably benign
R0268:Or7a38	UTSW	10	78,753,439 (GRCm39)	missense	probably damaging	0.99
R0359:Or7a38	UTSW	10	78,753,177 (GRCm39)	missense	probably benign	0.00
R0382:Or7a38	UTSW	10	78,752,960 (GRCm39)	nonsense	probably null
R1895:Or7a38	UTSW	10	78,752,758 (GRCm39)	missense	probably damaging	1.00
R1946:Or7a38	UTSW	10	78,752,758 (GRCm39)	missense	probably damaging	1.00
R2035:Or7a38	UTSW	10	78,753,421 (GRCm39)	missense	possibly damaging	0.86
R3853:Or7a38	UTSW	10	78,752,781 (GRCm39)	missense	probably damaging	1.00
R4756:Or7a38	UTSW	10	78,753,361 (GRCm39)	missense	probably damaging	0.99
R5326:Or7a38	UTSW	10	78,753,420 (GRCm39)	missense	possibly damaging	0.86
R5607:Or7a38	UTSW	10	78,752,933 (GRCm39)	missense	possibly damaging	0.93
R7070:Or7a38	UTSW	10	78,753,102 (GRCm39)	missense	probably benign
R7088:Or7a38	UTSW	10	78,753,593 (GRCm39)	missense	probably benign	0.00
R7212:Or7a38	UTSW	10	78,753,339 (GRCm39)	missense	possibly damaging	0.81
R7348:Or7a38	UTSW	10	78,753,396 (GRCm39)	missense	probably damaging	1.00
R7386:Or7a38	UTSW	10	78,752,677 (GRCm39)	start codon destroyed	probably null	0.98
R8976:Or7a38	UTSW	10	78,753,418 (GRCm39)	missense	possibly damaging	0.79
R9267:Or7a38	UTSW	10	78,752,803 (GRCm39)	missense	probably damaging	1.00
R9502:Or7a38	UTSW	10	78,753,559 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAGAGTGAAAGGAATGTCTATC -3'
(R):5'- CCAGCATCTTTGGGACAGTG -3'

Sequencing Primer
(F):5'- AGAGACTCCATAAGAAGAACAATTTC -3'
(R):5'- TGGTGGAGGTAAAACAGATGTCCAC -3'

Posted On

2019-12-20