Mutagenetix > Incidental Mutation

Incidental Mutation 'R7270:Or6c1b'

565240

Institutional Source

Beutler Lab

Gene Symbol

Or6c1b

Ensembl Gene

ENSMUSG00000095696

Gene Name

olfactory receptor family 6 subfamily C member 1B

Synonyms

MOR111-5, Olfr786, GA_x6K02T2PULF-11116958-11117896

MMRRC Submission

045390-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129272683-129273621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 129273319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 213 (F213V)

Ref Sequence

ENSEMBL: ENSMUSP00000145099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076508] [ENSMUST00000204529]

AlphaFold

Q8VFH8

Predicted Effect

probably benign
Transcript: ENSMUST00000076508
AA Change: F213V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075827
Gene: ENSMUSG00000095696
AA Change: F213V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	1.9e-53	PFAM
Pfam:7tm_1	39	288	7.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204529
AA Change: F213V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145099
Gene: ENSMUSG00000095696
AA Change: F213V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	1.9e-53	PFAM
Pfam:7tm_1	39	288	7.3e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	A	T	10: 42,301,245 (GRCm39)	Y193N	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Aimp1	T	C	3: 132,382,772 (GRCm39)	K44E	probably damaging	Het
Arid1b	T	A	17: 5,046,318 (GRCm39)	Y369N	unknown	Het
Art5	A	T	7: 101,747,080 (GRCm39)	V233D	probably damaging	Het
Baz2b	T	A	2: 59,792,836 (GRCm39)	N431Y	possibly damaging	Het
Bik	T	A	15: 83,428,364 (GRCm39)	F131I	possibly damaging	Het
Bmpr1a	A	G	14: 34,163,082 (GRCm39)	Y103H	probably damaging	Het
Cabp7	C	T	11: 4,696,676 (GRCm39)	V18M	possibly damaging	Het
Cacna1a	C	A	8: 85,297,866 (GRCm39)	T1240N	probably damaging	Het
Cacna1h	A	G	17: 25,603,739 (GRCm39)	V1311A	probably damaging	Het
Cbarp	A	C	10: 79,973,151 (GRCm39)	S16A	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2b	A	T	8: 105,564,472 (GRCm39)	H494L	possibly damaging	Het
Cfap43	T	A	19: 47,728,224 (GRCm39)	H1511L	possibly damaging	Het
Cfap54	A	G	10: 92,675,320 (GRCm39)	V2867A	probably benign	Het
Col5a1	C	T	2: 27,887,597 (GRCm39)	P956L	unknown	Het
Dcakd	T	G	11: 102,891,032 (GRCm39)	Q19P	possibly damaging	Het
Ddx47	T	A	6: 135,000,301 (GRCm39)	D432E	probably benign	Het
Dhrs7b	T	C	11: 60,735,055 (GRCm39)	F29L	probably benign	Het
Dis3l2	A	T	1: 86,918,025 (GRCm39)	D558V	possibly damaging	Het
Dtx3l	T	A	16: 35,754,027 (GRCm39)	D193V	probably damaging	Het
Eif1ad12	T	C	12: 87,541,663 (GRCm39)	L58P	probably damaging	Het
Epha4	G	A	1: 77,376,422 (GRCm39)	R486C	probably damaging	Het
Fam186a	T	C	15: 99,842,033 (GRCm39)	T1404A	possibly damaging	Het
Fat1	A	G	8: 45,490,475 (GRCm39)	T3796A	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Ftmt	A	G	18: 52,465,091 (GRCm39)	I136V	probably benign	Het
Gm10300	T	C	4: 131,802,167 (GRCm39)	W54R	unknown	Het
Gm10518	C	T	1: 179,630,949 (GRCm39)	P3L	unknown	Het
Grm2	G	A	9: 106,528,257 (GRCm39)	T209M	probably damaging	Het
Gtdc1	C	T	2: 44,525,322 (GRCm39)	M176I	probably benign	Het
Insrr	T	C	3: 87,710,440 (GRCm39)	L382P	probably damaging	Het
Jade2	A	G	11: 51,708,011 (GRCm39)	V734A	possibly damaging	Het
Kcnh4	C	T	11: 100,638,472 (GRCm39)	R586H	probably benign	Het
Kdm1a	A	T	4: 136,279,838 (GRCm39)	D721E	probably damaging	Het
Knl1	G	A	2: 118,933,003 (GRCm39)	C2054Y	possibly damaging	Het
Lrrk2	C	T	15: 91,584,644 (GRCm39)	P354S	probably benign	Het
Luzp2	A	G	7: 54,724,774 (GRCm39)	I112V	probably damaging	Het
Mgl2	T	C	11: 70,026,506 (GRCm39)	S105P	probably damaging	Het
Mocs1	T	A	17: 49,756,143 (GRCm39)	M200K	possibly damaging	Het
Oat	T	A	7: 132,168,927 (GRCm39)	I98L	probably benign	Het
Obscn	T	C	11: 58,920,312 (GRCm39)	Y8C		Het
Or5b108	G	A	19: 13,168,768 (GRCm39)	V246I	possibly damaging	Het
Pde1b	T	A	15: 103,430,082 (GRCm39)	M137K	possibly damaging	Het
Phf21a	T	C	2: 92,157,484 (GRCm39)	I204T	probably damaging	Het
Plcd4	A	G	1: 74,593,838 (GRCm39)	E321G	possibly damaging	Het
Plpp7	C	T	2: 31,985,662 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,566 (GRCm39)	I419T	probably benign	Het
Sec16b	A	T	1: 157,392,032 (GRCm39)	R855W	probably damaging	Het
Sec16b	G	T	1: 157,392,033 (GRCm39)	R855M	probably damaging	Het
Sec31b	T	C	19: 44,511,482 (GRCm39)	T640A	probably benign	Het
Siglec1	T	C	2: 130,923,471 (GRCm39)	T425A	possibly damaging	Het
Sirpd	A	T	3: 15,385,704 (GRCm39)	I66N	probably benign	Het
Skil	T	C	3: 31,151,324 (GRCm39)		probably benign	Het
Slc1a5	G	A	7: 16,519,623 (GRCm39)	V200M	probably damaging	Het
Slc25a12	T	C	2: 71,154,369 (GRCm39)	H139R	probably benign	Het
Slc25a32	A	T	15: 38,961,630 (GRCm39)	V187D	probably damaging	Het
Slc35a3	G	A	3: 116,505,455 (GRCm39)		probably benign	Het
Smap2	C	A	4: 120,829,264 (GRCm39)	M328I	probably benign	Het
Spef2	C	T	15: 9,600,066 (GRCm39)		probably null	Het
Srarp	A	G	4: 141,160,389 (GRCm39)	V148A	possibly damaging	Het
Stard9	T	A	2: 120,464,755 (GRCm39)	Y73*	probably null	Het
Tars1	A	G	15: 11,392,105 (GRCm39)	C236R	probably benign	Het
Tchh	G	C	3: 93,351,837 (GRCm39)	D426H	unknown	Het
Tnks2	T	C	19: 36,836,545 (GRCm39)	F17S		Het
Ube2g1	T	C	11: 72,553,939 (GRCm39)	I30T	possibly damaging	Het
Ube2o	C	T	11: 116,434,761 (GRCm39)	D567N	possibly damaging	Het
Unc5b	A	T	10: 60,608,002 (GRCm39)	Y710*	probably null	Het
Vmn1r215	T	C	13: 23,260,089 (GRCm39)	V43A	possibly damaging	Het
Xkr8	A	G	4: 132,455,648 (GRCm39)	F242L	probably benign	Het
Zfp526	T	A	7: 24,925,345 (GRCm39)	C535S	probably damaging	Het

Other mutations in Or6c1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02295:Or6c1b	APN	10	129,272,903 (GRCm39)	missense	possibly damaging	0.95
IGL03027:Or6c1b	APN	10	129,272,780 (GRCm39)	missense	probably damaging	1.00
IGL03177:Or6c1b	APN	10	129,272,684 (GRCm39)	start codon destroyed	probably null	0.82
IGL03216:Or6c1b	APN	10	129,272,806 (GRCm39)	missense	probably damaging	0.98
IGL03265:Or6c1b	APN	10	129,272,794 (GRCm39)	missense	possibly damaging	0.83
R0080:Or6c1b	UTSW	10	129,273,140 (GRCm39)	missense	possibly damaging	0.85
R0082:Or6c1b	UTSW	10	129,273,140 (GRCm39)	missense	possibly damaging	0.85
R0242:Or6c1b	UTSW	10	129,273,217 (GRCm39)	missense	probably damaging	1.00
R0242:Or6c1b	UTSW	10	129,273,217 (GRCm39)	missense	probably damaging	1.00
R0507:Or6c1b	UTSW	10	129,273,157 (GRCm39)	missense	probably benign	0.00
R1432:Or6c1b	UTSW	10	129,272,807 (GRCm39)	missense	probably damaging	1.00
R1563:Or6c1b	UTSW	10	129,273,580 (GRCm39)	missense	probably benign
R2023:Or6c1b	UTSW	10	129,273,451 (GRCm39)	missense	probably damaging	0.99
R2142:Or6c1b	UTSW	10	129,273,616 (GRCm39)	missense	probably benign	0.14
R2279:Or6c1b	UTSW	10	129,273,526 (GRCm39)	missense	probably benign	0.07
R3412:Or6c1b	UTSW	10	129,273,176 (GRCm39)	missense	probably damaging	0.99
R4467:Or6c1b	UTSW	10	129,272,933 (GRCm39)	missense	probably benign	0.04
R4529:Or6c1b	UTSW	10	129,273,287 (GRCm39)	missense	probably benign	0.03
R4843:Or6c1b	UTSW	10	129,273,316 (GRCm39)	missense	probably benign	0.01
R4888:Or6c1b	UTSW	10	129,273,248 (GRCm39)	missense	possibly damaging	0.95
R4890:Or6c1b	UTSW	10	129,272,948 (GRCm39)	missense	probably benign	0.08
R6255:Or6c1b	UTSW	10	129,273,557 (GRCm39)	missense	possibly damaging	0.95
R6362:Or6c1b	UTSW	10	129,272,812 (GRCm39)	missense	probably damaging	1.00
R6705:Or6c1b	UTSW	10	129,272,941 (GRCm39)	missense	probably benign	0.00
R7450:Or6c1b	UTSW	10	129,273,298 (GRCm39)	missense	probably benign	0.00
R7803:Or6c1b	UTSW	10	129,272,800 (GRCm39)	missense	probably damaging	1.00
R7856:Or6c1b	UTSW	10	129,272,885 (GRCm39)	missense	probably damaging	1.00
R8725:Or6c1b	UTSW	10	129,273,334 (GRCm39)	missense	probably benign	0.02
R8727:Or6c1b	UTSW	10	129,273,334 (GRCm39)	missense	probably benign	0.02
R8838:Or6c1b	UTSW	10	129,273,065 (GRCm39)	missense	probably damaging	1.00
R9180:Or6c1b	UTSW	10	129,272,858 (GRCm39)	missense	probably damaging	0.99
R9663:Or6c1b	UTSW	10	129,272,929 (GRCm39)	missense	probably damaging	0.97
R9688:Or6c1b	UTSW	10	129,272,967 (GRCm39)	nonsense	probably null
X0052:Or6c1b	UTSW	10	129,273,368 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAAATGTTGGTCTTTGCCTCC -3'
(R):5'- GCAACTCCCTTGGTCAATGATG -3'

Sequencing Primer
(F):5'- AATCATCTTCCCTGCACTGATG -3'
(R):5'- CAATGATGCTCTATCTGCTGCTGAG -3'

Posted On

2019-06-26