Mutagenetix > Incidental Mutation

Incidental Mutation 'R1661:Or4g16'

186720

Institutional Source

Beutler Lab

Gene Symbol

Or4g16

Ensembl Gene

ENSMUSG00000109813

Gene Name

olfactory receptor family 4 subfamily G member 16

Synonyms

Olfr1279, MOR245-12, GA_x6K02T2Q125-72357646-72358581

MMRRC Submission

039697-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R1661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111136546-111137487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111137116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 189 (C189R)

Ref Sequence

ENSEMBL: ENSMUSP00000149972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062407] [ENSMUST00000090329] [ENSMUST00000213823] [ENSMUST00000216697]

AlphaFold

Q8VF38

Predicted Effect

probably damaging
Transcript: ENSMUST00000062407
AA Change: C189R

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

SMART Domains

Protein: ENSMUSP00000052153
Gene: ENSMUSG00000108931
AA Change: C189R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	7.2e-45	PFAM
Pfam:7TM_GPCR_Srsx	34	302	2.4e-5	PFAM
Pfam:7tm_1	41	287	2e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000090329
AA Change: C191R

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

SMART Domains

Protein: ENSMUSP00000087801
Gene: ENSMUSG00000109813
AA Change: C191R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	306	1.7e-44	PFAM
Pfam:7TM_GPCR_Srsx	36	300	3.2e-5	PFAM
Pfam:7tm_1	43	289	7.4e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213823
AA Change: C189R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216697
AA Change: C189R

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Adamts9	G	T	6: 92,857,604 (GRCm39)	Q895K	possibly damaging	Het
Ajm1	T	C	2: 25,469,167 (GRCm39)	D248G	possibly damaging	Het
Amotl2	T	A	9: 102,607,295 (GRCm39)	I701N	probably damaging	Het
Angel2	T	C	1: 190,669,664 (GRCm39)	Y115H	probably damaging	Het
Appbp2	T	C	11: 85,100,936 (GRCm39)		probably null	Het
Arhgap33	A	C	7: 30,231,748 (GRCm39)	C113W	probably damaging	Het
Asprv1	A	G	6: 86,605,718 (GRCm39)	N188S	probably damaging	Het
Atp8a2	T	C	14: 60,097,635 (GRCm39)	I798V	possibly damaging	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Cep89	A	G	7: 35,117,105 (GRCm39)	T236A	possibly damaging	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Cog2	T	C	8: 125,269,629 (GRCm39)	F390L	probably benign	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Ddb1	A	T	19: 10,606,444 (GRCm39)	Y1114F	probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Dync1h1	T	C	12: 110,622,791 (GRCm39)	F3494L	probably damaging	Het
F7	A	G	8: 13,085,209 (GRCm39)	I412V	probably benign	Het
Fam222b	A	G	11: 78,045,987 (GRCm39)	Y388C	probably damaging	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Fbxo32	A	C	15: 58,054,865 (GRCm39)	V156G	probably damaging	Het
Fem1b	C	T	9: 62,704,556 (GRCm39)	V235I	probably damaging	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Garin1a	G	C	6: 29,285,937 (GRCm39)	R132P	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ighmbp2	A	G	19: 3,317,246 (GRCm39)	L542P	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itpr1	A	G	6: 108,459,858 (GRCm39)	N2051D	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Kpna6	T	A	4: 129,551,264 (GRCm39)	R80S	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Megf8	A	G	7: 25,063,272 (GRCm39)	T2543A	probably damaging	Het
Mfn1	T	G	3: 32,588,471 (GRCm39)	V66G	probably benign	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nnmt	A	G	9: 48,516,174 (GRCm39)	S29P	probably benign	Het
Nrde2	A	T	12: 100,116,119 (GRCm39)	S122T	probably benign	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or7g33	C	T	9: 19,448,624 (GRCm39)	V201I	probably benign	Het
Pced1b	A	G	15: 97,282,594 (GRCm39)	H211R	probably benign	Het
Pcsk5	A	T	19: 17,424,938 (GRCm39)	S1622T	probably damaging	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Phf11a	A	T	14: 59,518,237 (GRCm39)	L170H	probably damaging	Het
Ppil6	A	G	10: 41,390,176 (GRCm39)	D307G	probably benign	Het
Ppp6r2	A	G	15: 89,137,254 (GRCm39)	D6G	possibly damaging	Het
Psmd12	A	T	11: 107,382,732 (GRCm39)	K212N	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ryr1	A	T	7: 28,801,163 (GRCm39)	I860N	probably damaging	Het
Saal1	A	T	7: 46,342,224 (GRCm39)	N406K	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,266,759 (GRCm39)	Y277N	probably damaging	Het
Slitrk1	A	T	14: 109,149,359 (GRCm39)	Y451N	probably damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Smarcd1	A	T	15: 99,605,519 (GRCm39)		probably null	Het
Smc3	A	G	19: 53,613,496 (GRCm39)	D403G	probably benign	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tasor2	C	T	13: 3,623,860 (GRCm39)	S2030N	possibly damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Zfp53	A	G	17: 21,729,766 (GRCm39)	T600A	probably damaging	Het

Other mutations in Or4g16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Or4g16	APN	2	111,136,966 (GRCm39)	missense	probably benign	0.19
IGL01355:Or4g16	APN	2	111,137,438 (GRCm39)	missense	probably benign	0.00
IGL01864:Or4g16	APN	2	111,137,400 (GRCm39)	missense	probably damaging	1.00
IGL02160:Or4g16	APN	2	111,137,143 (GRCm39)	missense	probably benign	0.02
IGL02183:Or4g16	APN	2	111,136,763 (GRCm39)	missense	probably damaging	0.98
PIT4377001:Or4g16	UTSW	2	111,137,225 (GRCm39)	missense	probably damaging	1.00
R0280:Or4g16	UTSW	2	111,137,417 (GRCm39)	missense	possibly damaging	0.48
R0636:Or4g16	UTSW	2	111,136,757 (GRCm39)	missense	probably benign	0.06
R0732:Or4g16	UTSW	2	111,137,325 (GRCm39)	nonsense	probably null
R1665:Or4g16	UTSW	2	111,137,116 (GRCm39)	missense	probably damaging	1.00
R2251:Or4g16	UTSW	2	111,136,655 (GRCm39)	missense	probably damaging	1.00
R2252:Or4g16	UTSW	2	111,136,655 (GRCm39)	missense	probably damaging	1.00
R2253:Or4g16	UTSW	2	111,136,655 (GRCm39)	missense	probably damaging	1.00
R2473:Or4g16	UTSW	2	111,137,236 (GRCm39)	missense	probably damaging	1.00
R3408:Or4g16	UTSW	2	111,136,850 (GRCm39)	missense	probably damaging	1.00
R5020:Or4g16	UTSW	2	111,136,637 (GRCm39)	missense	probably benign	0.01
R5634:Or4g16	UTSW	2	111,137,437 (GRCm39)	missense	probably benign
R5647:Or4g16	UTSW	2	111,137,392 (GRCm39)	missense	possibly damaging	0.67
R6782:Or4g16	UTSW	2	111,137,090 (GRCm39)	missense	probably damaging	1.00
R6911:Or4g16	UTSW	2	111,136,618 (GRCm39)	missense	probably benign	0.00
R7135:Or4g16	UTSW	2	111,137,365 (GRCm39)	missense	probably benign	0.05
R7167:Or4g16	UTSW	2	111,136,793 (GRCm39)	missense	probably benign	0.10
R7452:Or4g16	UTSW	2	111,137,266 (GRCm39)	missense	probably damaging	1.00
R7563:Or4g16	UTSW	2	111,137,134 (GRCm39)	missense	probably benign	0.00
R7582:Or4g16	UTSW	2	111,136,793 (GRCm39)	missense	probably damaging	0.97
R8949:Or4g16	UTSW	2	111,137,379 (GRCm39)	missense	probably damaging	1.00
X0021:Or4g16	UTSW	2	111,136,933 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAACCTGTCTTTGAACGATGTG -3'
(R):5'- ACAAGCGCCTTTGACAAGTCCC -3'

Sequencing Primer
(F):5'- ATGGCCTTTGACAGGTACAC -3'
(R):5'- AAGTCCCCTGAAGACCTTTGC -3'

Posted On

2014-05-09