Mutagenetix > Incidental Mutation

Incidental Mutation 'R5597:Or6c214'

437885

Institutional Source

Beutler Lab

Gene Symbol

Or6c214

Ensembl Gene

ENSMUSG00000050478

Gene Name

olfactory receptor family 6 subfamily C member 214

Synonyms

GA_x6K02T2PULF-11434134-11433199, Olfr807, MOR117-1

MMRRC Submission

043149-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129590382-129591317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129590755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 188 (D188G)

Ref Sequence

ENSEMBL: ENSMUSP00000150657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059038] [ENSMUST00000213379] [ENSMUST00000217106]

AlphaFold

Q8VGI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000059038
AA Change: D188G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049924
Gene: ENSMUSG00000050478
AA Change: D188G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	3.9e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	302	3.4e-8	PFAM
Pfam:7tm_1	39	296	2.9e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213379
AA Change: D188G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217106
AA Change: D188G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (55/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,927,363 (GRCm39)	T1330I	probably damaging	Het
Aebp1	T	C	11: 5,816,487 (GRCm39)	V322A	probably benign	Het
Anks3	T	A	16: 4,771,793 (GRCm39)	H77L	possibly damaging	Het
Bsn	A	T	9: 107,992,131 (GRCm39)	M1207K	probably benign	Het
Btla	A	G	16: 45,064,599 (GRCm39)	T183A	probably benign	Het
Cdca8	G	A	4: 124,812,793 (GRCm39)	R286W	probably damaging	Het
Cnot6l	T	C	5: 96,278,978 (GRCm39)	D80G	probably damaging	Het
Col16a1	A	G	4: 129,952,097 (GRCm39)	D93G	probably damaging	Het
Ctsk	T	C	3: 95,409,007 (GRCm39)	V130A	probably damaging	Het
Cul9	T	C	17: 46,813,591 (GRCm39)	E2294G	possibly damaging	Het
Dcaf5	G	T	12: 80,386,817 (GRCm39)	S436R	probably damaging	Het
Dnah7a	A	T	1: 53,573,611 (GRCm39)	L1792H	probably benign	Het
Dst	T	C	1: 34,231,794 (GRCm39)	V3307A	probably benign	Het
Frrs1	C	T	3: 116,671,887 (GRCm39)		probably benign	Het
Gimap4	T	C	6: 48,667,698 (GRCm39)	L151P	probably damaging	Het
Hook2	A	G	8: 85,720,657 (GRCm39)	N166S	probably benign	Het
Hp1bp3	A	T	4: 137,948,939 (GRCm39)	M1L	possibly damaging	Het
Igkv4-56	T	A	6: 69,564,467 (GRCm39)		noncoding transcript	Het
Kdm6b	C	T	11: 69,296,900 (GRCm39)	A456T	probably damaging	Het
Lamc1	A	G	1: 153,127,716 (GRCm39)	C396R	probably damaging	Het
Lars2	A	T	9: 123,284,047 (GRCm39)	D745V	probably damaging	Het
Macf1	A	T	4: 123,433,570 (GRCm39)		probably benign	Het
Mapk4	T	A	18: 74,070,341 (GRCm39)	Y184F	probably benign	Het
Mgat5	A	G	1: 127,325,303 (GRCm39)	Y390C	probably damaging	Het
Msh2	T	C	17: 88,030,789 (GRCm39)	S889P	probably benign	Het
Nebl	A	G	2: 17,382,978 (GRCm39)	S100P	probably benign	Het
Nudt7	A	T	8: 114,878,506 (GRCm39)	H154L	probably benign	Het
Olig2	A	T	16: 91,023,768 (GRCm39)	M161L	probably benign	Het
Or2ah1	T	C	2: 85,653,804 (GRCm39)	L163P	probably damaging	Het
Or5h24	A	T	16: 58,918,710 (GRCm39)	V215D	unknown	Het
Palmd	T	A	3: 116,717,225 (GRCm39)	D424V	probably damaging	Het
Pdzk1ip1	A	G	4: 114,950,689 (GRCm39)	N164D	probably damaging	Het
Prkag1	A	G	15: 98,713,789 (GRCm39)	S14P	probably damaging	Het
Prss12	C	T	3: 123,258,389 (GRCm39)	P161L	probably benign	Het
Pwwp2a	T	C	11: 43,573,422 (GRCm39)	V168A	probably benign	Het
Rassf7	A	G	7: 140,797,024 (GRCm39)	D79G	probably damaging	Het
Rgs3	A	T	4: 62,542,082 (GRCm39)	I19F	probably damaging	Het
Slc30a10	C	A	1: 185,194,897 (GRCm39)	H236Q	probably damaging	Het
Slco3a1	C	A	7: 73,934,210 (GRCm39)	R654L	probably benign	Het
Smad4	A	C	18: 73,795,898 (GRCm39)	F165L	probably benign	Het
Swsap1	G	T	9: 21,867,242 (GRCm39)	R62M	probably damaging	Het
Tenm4	T	A	7: 96,202,724 (GRCm39)	M113K	probably benign	Het
Tmem225	A	G	9: 40,060,726 (GRCm39)	N95S	possibly damaging	Het
Tnni3k	A	T	3: 154,577,765 (GRCm39)	L658H	probably damaging	Het
Trem2	G	A	17: 48,658,840 (GRCm39)	V202I	probably benign	Het
Tyw1	C	T	5: 130,303,498 (GRCm39)	L289F	probably benign	Het
Vcam1	T	A	3: 115,919,651 (GRCm39)	D205V	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,674,073 (GRCm39)	D377G	probably benign	Het
Yy1	A	G	12: 108,781,436 (GRCm39)	D367G	probably damaging	Het
Zfp11	A	T	5: 129,734,166 (GRCm39)	C432S	probably benign	Het

Other mutations in Or6c214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02586:Or6c214	APN	10	129,590,524 (GRCm39)	missense	possibly damaging	0.87
IGL03031:Or6c214	APN	10	129,591,238 (GRCm39)	missense	possibly damaging	0.94
R0691:Or6c214	UTSW	10	129,591,271 (GRCm39)	missense	probably damaging	1.00
R0848:Or6c214	UTSW	10	129,591,077 (GRCm39)	missense	probably benign	0.00
R0988:Or6c214	UTSW	10	129,590,866 (GRCm39)	missense	probably benign	0.03
R1880:Or6c214	UTSW	10	129,591,290 (GRCm39)	missense	probably benign	0.09
R1894:Or6c214	UTSW	10	129,590,943 (GRCm39)	nonsense	probably null
R1935:Or6c214	UTSW	10	129,590,584 (GRCm39)	missense	probably damaging	1.00
R2513:Or6c214	UTSW	10	129,591,021 (GRCm39)	missense	probably damaging	1.00
R4201:Or6c214	UTSW	10	129,590,497 (GRCm39)	missense	probably damaging	1.00
R4643:Or6c214	UTSW	10	129,590,824 (GRCm39)	missense	probably damaging	1.00
R4651:Or6c214	UTSW	10	129,591,287 (GRCm39)	missense	probably benign
R4652:Or6c214	UTSW	10	129,591,287 (GRCm39)	missense	probably benign
R4797:Or6c214	UTSW	10	129,590,390 (GRCm39)	missense	probably benign	0.06
R5337:Or6c214	UTSW	10	129,590,403 (GRCm39)	nonsense	probably null
R6310:Or6c214	UTSW	10	129,590,528 (GRCm39)	missense	probably benign	0.04
R6442:Or6c214	UTSW	10	129,591,277 (GRCm39)	missense	probably damaging	1.00
R6443:Or6c214	UTSW	10	129,591,277 (GRCm39)	missense	probably damaging	1.00
R6642:Or6c214	UTSW	10	129,591,232 (GRCm39)	missense	probably damaging	1.00
R7660:Or6c214	UTSW	10	129,590,432 (GRCm39)	nonsense	probably null
R7862:Or6c214	UTSW	10	129,591,224 (GRCm39)	missense	probably benign	0.00
R9052:Or6c214	UTSW	10	129,591,094 (GRCm39)	missense	possibly damaging	0.75
R9091:Or6c214	UTSW	10	129,591,148 (GRCm39)	missense	probably damaging	0.98
R9270:Or6c214	UTSW	10	129,591,148 (GRCm39)	missense	probably damaging	0.98
R9703:Or6c214	UTSW	10	129,591,286 (GRCm39)	missense	possibly damaging	0.57
Z1088:Or6c214	UTSW	10	129,591,208 (GRCm39)	missense	possibly damaging	0.77
Z1176:Or6c214	UTSW	10	129,590,693 (GRCm39)	missense	possibly damaging	0.93
Z1176:Or6c214	UTSW	10	129,590,557 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGCAGCTGCCATAAGAGATG -3'
(R):5'- ACCGCTATGTGGCCATTTG -3'

Sequencing Primer
(F):5'- TGGAGACAACAATCATGTGTGAG -3'
(R):5'- ATGTGGCCATTTGTAGACCC -3'

Posted On

2016-10-26