Mutagenetix > Incidental Mutation

Incidental Mutation 'R2230:Or7g16'

239993

Institutional Source

Beutler Lab

Gene Symbol

Or7g16

Ensembl Gene

ENSMUSG00000078116

Gene Name

olfactory receptor family 7 subfamily G member 16

Synonyms

GA_x6K02T2PVTD-12559294-12558356, Olfr828, MOR149-1

MMRRC Submission

040231-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R2230 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18726650-18727588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18727021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 190 (S190P)

Ref Sequence

ENSEMBL: ENSMUSP00000148853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104914] [ENSMUST00000213018] [ENSMUST00000215380]

AlphaFold

Q8VFM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000104914
AA Change: S190P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100514
Gene: ENSMUSG00000078116
AA Change: S190P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	1e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.4e-5	PFAM
Pfam:7tm_1	41	290	2.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213018
AA Change: S190P

Predicted Effect

probably damaging
Transcript: ENSMUST00000215380
AA Change: S190P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.7010

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,521,347 (GRCm39)	N280K	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ankra2	T	C	13: 98,407,646 (GRCm39)	F199L	probably damaging	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Apoa2	A	G	1: 171,053,340 (GRCm39)	K53R	probably benign	Het
Atr	A	G	9: 95,802,818 (GRCm39)	R1827G	probably damaging	Het
Ccdc61	T	C	7: 18,625,032 (GRCm39)	E502G	probably damaging	Het
Ccn2	T	A	10: 24,472,371 (GRCm39)	M138K	possibly damaging	Het
Cdon	T	C	9: 35,403,222 (GRCm39)		probably null	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dock2	T	A	11: 34,244,323 (GRCm39)	I1036F	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Entrep2	G	A	7: 64,408,970 (GRCm39)	H475Y	probably damaging	Het
Ergic3	A	G	2: 155,859,736 (GRCm39)	T346A	probably damaging	Het
F2	T	C	2: 91,456,102 (GRCm39)	D553G	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Gm10650	A	G	3: 127,833,412 (GRCm39)		noncoding transcript	Het
Gm21850	G	T	2: 153,900,248 (GRCm39)	V202L	probably benign	Het
Hdc	T	A	2: 126,435,938 (GRCm39)	E644D	possibly damaging	Het
Hypk	G	A	2: 121,287,773 (GRCm39)		probably null	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
Mgll	G	A	6: 88,802,714 (GRCm39)	V318M	possibly damaging	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Musk	A	T	4: 58,333,672 (GRCm39)	I256F	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Myo5c	A	G	9: 75,180,888 (GRCm39)	D759G	probably benign	Het
Nkx2-1	G	A	12: 56,580,071 (GRCm39)	Q290*	probably null	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or10j7	A	G	1: 173,011,182 (GRCm39)	I273T	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or8c13	T	C	9: 38,091,442 (GRCm39)	T226A	probably benign	Het
Pabpc2	G	A	18: 39,908,123 (GRCm39)	V463I	probably benign	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plxnd1	C	A	6: 115,941,105 (GRCm39)	R1302L	probably damaging	Het
Pnpla7	T	C	2: 24,941,610 (GRCm39)		probably benign	Het
Ppl	G	A	16: 4,906,845 (GRCm39)	T1150I	possibly damaging	Het
Prkag2	G	T	5: 25,113,362 (GRCm39)	A113E	probably benign	Het
Proz	A	G	8: 13,113,356 (GRCm39)	Y59C	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sec14l5	A	G	16: 4,994,345 (GRCm39)	T380A	probably damaging	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sspo	C	A	6: 48,477,437 (GRCm39)	Q5123K	probably benign	Het
Tbc1d21	A	C	9: 58,270,363 (GRCm39)	N137K	probably damaging	Het
Tek	G	A	4: 94,699,573 (GRCm39)	C317Y	probably damaging	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Topbp1	T	A	9: 103,223,047 (GRCm39)	I1377N	probably damaging	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttf2	A	G	3: 100,865,260 (GRCm39)	V544A	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Ugt2b38	A	G	5: 87,569,527 (GRCm39)	F267L	probably benign	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het
Vwa8	T	C	14: 79,329,843 (GRCm39)		probably null	Het
Zfp708	A	T	13: 67,219,036 (GRCm39)	Y229*	probably null	Het
Zzef1	T	A	11: 72,775,242 (GRCm39)	M1745K	probably damaging	Het

Other mutations in Or7g16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Or7g16	APN	9	18,727,219 (GRCm39)	missense	probably benign	0.03
IGL02103:Or7g16	APN	9	18,727,005 (GRCm39)	missense	probably damaging	1.00
IGL02792:Or7g16	APN	9	18,727,254 (GRCm39)	missense	probably benign	0.00
IGL02964:Or7g16	APN	9	18,727,024 (GRCm39)	missense	probably damaging	1.00
IGL03087:Or7g16	APN	9	18,727,380 (GRCm39)	missense	probably damaging	1.00
IGL03105:Or7g16	APN	9	18,726,685 (GRCm39)	missense	probably benign	0.03
R0330:Or7g16	UTSW	9	18,726,937 (GRCm39)	missense	probably damaging	1.00
R0335:Or7g16	UTSW	9	18,727,290 (GRCm39)	missense	probably damaging	1.00
R0862:Or7g16	UTSW	9	18,727,002 (GRCm39)	missense	probably damaging	0.98
R1226:Or7g16	UTSW	9	18,727,266 (GRCm39)	missense	probably benign	0.34
R2004:Or7g16	UTSW	9	18,726,801 (GRCm39)	missense	probably benign	0.05
R2005:Or7g16	UTSW	9	18,726,801 (GRCm39)	missense	probably benign	0.05
R2006:Or7g16	UTSW	9	18,726,801 (GRCm39)	missense	probably benign	0.05
R2199:Or7g16	UTSW	9	18,727,219 (GRCm39)	missense	probably damaging	0.97
R2399:Or7g16	UTSW	9	18,727,323 (GRCm39)	missense	probably benign	0.07
R5652:Or7g16	UTSW	9	18,726,922 (GRCm39)	missense	probably damaging	1.00
R5738:Or7g16	UTSW	9	18,727,125 (GRCm39)	missense	possibly damaging	0.81
R6416:Or7g16	UTSW	9	18,727,188 (GRCm39)	missense	probably benign	0.21
R6813:Or7g16	UTSW	9	18,727,188 (GRCm39)	missense	probably benign	0.21
R7092:Or7g16	UTSW	9	18,727,353 (GRCm39)	missense	probably damaging	1.00
R7109:Or7g16	UTSW	9	18,726,904 (GRCm39)	missense	probably benign	0.01
R7292:Or7g16	UTSW	9	18,727,486 (GRCm39)	missense	probably damaging	1.00
R7429:Or7g16	UTSW	9	18,726,650 (GRCm39)	makesense	probably null
R7430:Or7g16	UTSW	9	18,726,650 (GRCm39)	makesense	probably null
R7490:Or7g16	UTSW	9	18,727,229 (GRCm39)	nonsense	probably null
R7835:Or7g16	UTSW	9	18,727,105 (GRCm39)	missense	probably benign	0.05
R8016:Or7g16	UTSW	9	18,727,588 (GRCm39)	start codon destroyed	probably null	0.56
R8809:Or7g16	UTSW	9	18,726,919 (GRCm39)	missense	probably damaging	0.99
R8859:Or7g16	UTSW	9	18,726,992 (GRCm39)	missense	possibly damaging	0.90
R9036:Or7g16	UTSW	9	18,727,569 (GRCm39)	missense	probably damaging	1.00
R9079:Or7g16	UTSW	9	18,726,731 (GRCm39)	missense	probably damaging	0.99
R9177:Or7g16	UTSW	9	18,726,742 (GRCm39)	missense	probably damaging	1.00
R9182:Or7g16	UTSW	9	18,726,742 (GRCm39)	missense	probably damaging	1.00
R9184:Or7g16	UTSW	9	18,727,138 (GRCm39)	missense	probably benign	0.10
RF003:Or7g16	UTSW	9	18,726,778 (GRCm39)	missense	probably benign	0.03
X0026:Or7g16	UTSW	9	18,727,059 (GRCm39)	missense	possibly damaging	0.95
Z1176:Or7g16	UTSW	9	18,727,276 (GRCm39)	frame shift	probably null
Z1177:Or7g16	UTSW	9	18,727,444 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CCCAATGCTGTACCATAGAATAATG -3'
(R):5'- GCATATGACCGCTATGTTGCC -3'

Sequencing Primer
(F):5'- TGCTGTACCATAGAATAATGAAACC -3'
(R):5'- GCATATGACCGCTATGTTGCCATATG -3'

Posted On

2014-10-15