Mutagenetix > Incidental Mutation

Incidental Mutation 'R4091:Or8g28'

317616

Institutional Source

Beutler Lab

Gene Symbol

Or8g28

Ensembl Gene

ENSMUSG00000063380

Gene Name

olfactory receptor family 8 subfamily G member 28

Synonyms

MOR171-20, Olfr945, GA_x6K02T2PVTD-32955932-32954982

MMRRC Submission

041626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39169016-39169975 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39169330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 213 (I213F)

Ref Sequence

ENSEMBL: ENSMUSP00000151086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076903] [ENSMUST00000216698]

AlphaFold

Q9EQB5

Predicted Effect

probably benign
Transcript: ENSMUST00000076903
AA Change: I216F

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076169
Gene: ENSMUSG00000063380
AA Change: I216F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.2e-50	PFAM
Pfam:7tm_1	44	293	2.3e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216698
AA Change: I213F

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (61/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,575,722 (GRCm39)	S674P	possibly damaging	Het
Abca3	C	T	17: 24,616,456 (GRCm39)	T966M	probably damaging	Het
Adam2	A	T	14: 66,267,172 (GRCm39)	Y696N	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Arhgap25	G	T	6: 87,440,017 (GRCm39)	S543R	probably benign	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bltp1	G	A	3: 37,084,738 (GRCm39)	A3897T	probably benign	Het
Carns1	C	T	19: 4,221,682 (GRCm39)	R191Q	probably damaging	Het
Casp8ap2	C	A	4: 32,643,611 (GRCm39)	P895T	probably damaging	Het
Col12a1	T	A	9: 79,609,646 (GRCm39)	I287F	probably damaging	Het
Cystm1	A	G	18: 36,499,600 (GRCm39)	N5S	unknown	Het
Dnah8	T	C	17: 30,988,813 (GRCm39)	V3261A	probably damaging	Het
Dnajc11	A	G	4: 152,062,550 (GRCm39)		probably benign	Het
Dock4	T	C	12: 40,894,266 (GRCm39)	S1847P	probably damaging	Het
Dync2h1	A	G	9: 7,131,881 (GRCm39)	V1642A	probably benign	Het
Eftud2	T	C	11: 102,730,242 (GRCm39)		probably null	Het
Fam221b	A	G	4: 43,665,987 (GRCm39)	I208T	probably benign	Het
Gpr141b	T	A	13: 19,913,635 (GRCm39)		noncoding transcript	Het
Gpr37l1	T	C	1: 135,089,301 (GRCm39)	I255V	probably benign	Het
Grm7	G	A	6: 110,891,301 (GRCm39)	S178N	probably damaging	Het
Hspa12b	T	A	2: 130,975,408 (GRCm39)		probably null	Het
Kctd3	A	T	1: 188,727,917 (GRCm39)		probably benign	Het
Kynu	G	A	2: 43,569,884 (GRCm39)	V389M	possibly damaging	Het
Lcat	A	G	8: 106,666,538 (GRCm39)	L328P	probably benign	Het
Lrrn2	C	T	1: 132,865,390 (GRCm39)	Q152*	probably null	Het
Maml1	G	A	11: 50,182,656 (GRCm39)	P78L	probably benign	Het
Mef2b	G	A	8: 70,617,752 (GRCm39)	V37M	probably damaging	Het
Mindy2	A	T	9: 70,541,342 (GRCm39)	M281K	probably damaging	Het
Mon2	C	T	10: 122,874,415 (GRCm39)	R311H	probably damaging	Het
Mtr	A	T	13: 12,245,943 (GRCm39)	V394E	probably damaging	Het
Myh14	T	A	7: 44,282,415 (GRCm39)	T745S	possibly damaging	Het
Nme9	T	A	9: 99,346,580 (GRCm39)	D131E	possibly damaging	Het
Nphp4	C	A	4: 152,631,475 (GRCm39)	Q792K	probably damaging	Het
Nrxn2	T	A	19: 6,523,444 (GRCm39)	C479S	probably damaging	Het
Nsmf	T	C	2: 24,950,871 (GRCm39)	I406T	probably damaging	Het
Or10a49	G	A	7: 108,467,650 (GRCm39)	A237V	probably damaging	Het
Or5an9	A	T	19: 12,187,143 (GRCm39)	D71V	probably damaging	Het
Pbrm1	A	G	14: 30,757,960 (GRCm39)	T197A	probably benign	Het
Pla2r1	T	A	2: 60,262,937 (GRCm39)	N1034I	probably damaging	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxfp1	A	T	3: 79,552,068 (GRCm39)	D744E	probably benign	Het
Samd9l	T	C	6: 3,376,887 (GRCm39)	N125D	probably benign	Het
Serpina3a	G	A	12: 104,082,625 (GRCm39)	V133I	probably benign	Het
Slc22a30	C	T	19: 8,381,909 (GRCm39)	V121M	probably damaging	Het
Smarcc1	T	A	9: 109,993,897 (GRCm39)	D247E	possibly damaging	Het
Smg9	T	A	7: 24,120,292 (GRCm39)	L422Q	probably null	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tle5	G	A	10: 81,401,418 (GRCm39)	G162D	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Utrn	T	A	10: 12,585,915 (GRCm39)	D954V	probably benign	Het
Vmn1r227	T	A	17: 20,955,778 (GRCm39)		noncoding transcript	Het
Vmn2r11	A	C	5: 109,202,616 (GRCm39)		probably null	Het
Vmn2r84	A	T	10: 130,227,238 (GRCm39)	M200K	probably damaging	Het
Vmn2r88	T	A	14: 51,652,883 (GRCm39)	Y469N	probably damaging	Het
Wdcp	A	G	12: 4,905,279 (GRCm39)	N600S	probably null	Het
Wdfy4	T	G	14: 32,847,837 (GRCm39)	R838S	possibly damaging	Het

Other mutations in Or8g28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01640:Or8g28	APN	9	39,169,559 (GRCm39)	missense	probably damaging	1.00
IGL01773:Or8g28	APN	9	39,169,830 (GRCm39)	missense	probably damaging	0.96
IGL02869:Or8g28	APN	9	39,169,520 (GRCm39)	nonsense	probably null
IGL03245:Or8g28	APN	9	39,169,294 (GRCm39)	missense	probably damaging	0.99
K3955:Or8g28	UTSW	9	39,169,926 (GRCm39)	missense	probably damaging	1.00
R1710:Or8g28	UTSW	9	39,169,867 (GRCm39)	missense	probably benign	0.07
R1746:Or8g28	UTSW	9	39,169,498 (GRCm39)	missense	probably damaging	1.00
R1820:Or8g28	UTSW	9	39,169,695 (GRCm39)	missense	possibly damaging	0.74
R3410:Or8g28	UTSW	9	39,169,897 (GRCm39)	missense	possibly damaging	0.75
R4625:Or8g28	UTSW	9	39,169,614 (GRCm39)	missense	probably damaging	1.00
R6475:Or8g28	UTSW	9	39,169,378 (GRCm39)	missense	probably benign	0.00
R7114:Or8g28	UTSW	9	39,169,897 (GRCm39)	missense	possibly damaging	0.75
R7500:Or8g28	UTSW	9	39,169,762 (GRCm39)	missense	probably benign	0.03
R7545:Or8g28	UTSW	9	39,169,984 (GRCm39)	critical splice acceptor site	probably null
R7850:Or8g28	UTSW	9	39,169,518 (GRCm39)	missense	possibly damaging	0.94
R8263:Or8g28	UTSW	9	39,169,899 (GRCm39)	missense	probably damaging	1.00
R8477:Or8g28	UTSW	9	39,169,099 (GRCm39)	missense	probably damaging	1.00
R9466:Or8g28	UTSW	9	39,169,491 (GRCm39)	missense	possibly damaging	0.57
R9554:Or8g28	UTSW	9	39,169,756 (GRCm39)	missense	possibly damaging	0.81
R9577:Or8g28	UTSW	9	39,169,737 (GRCm39)	missense	possibly damaging	0.81
Z1088:Or8g28	UTSW	9	39,169,167 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGTTCAGCATGGGTACAACAG -3'
(R):5'- GTTCTGTGCATCAGTTCACACAG -3'

Sequencing Primer
(F):5'- TTCAGCATGGGTACAACAGTAGTG -3'
(R):5'- TGCATCAGTTCACACAGGGGTC -3'

Posted On

2015-05-15