Mutagenetix > Incidental Mutation

Incidental Mutation 'R6339:Or4c106'

513801

Institutional Source

Beutler Lab

Gene Symbol

Or4c106

Ensembl Gene

ENSMUSG00000061798

Gene Name

olfactory receptor family 4 subfamily C member 106

Synonyms

MOR232-6, Olfr1204, GA_x6K02T2Q125-50322618-50323547

MMRRC Submission

044493-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88682296-88683225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88683215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 307 (D307G)

Ref Sequence

ENSEMBL: ENSMUSP00000077701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078631] [ENSMUST00000213283]

AlphaFold

Q7TR10

Predicted Effect

probably null
Transcript: ENSMUST00000078631
AA Change: D307G

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

SMART Domains

Protein: ENSMUSP00000077701
Gene: ENSMUSG00000061798
AA Change: D307G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.5e-48	PFAM
Pfam:7tm_1	39	285	1.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213283
AA Change: D307G

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

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

97% (69/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933424G06Rik	A	T	1: 36,749,542 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,310,091 (GRCm39)	S743R	probably damaging	Het
Ak8	A	G	2: 28,624,460 (GRCm39)		probably null	Het
Alpk2	A	G	18: 65,482,877 (GRCm39)	M377T	probably benign	Het
Ap1g1	G	A	8: 110,571,000 (GRCm39)	V425I	possibly damaging	Het
Apob	A	T	12: 8,066,188 (GRCm39)	R4353W	probably damaging	Het
Arhgef38	T	C	3: 132,839,423 (GRCm39)	K540R	probably benign	Het
B3galt2	A	T	1: 143,522,640 (GRCm39)	T259S	possibly damaging	Het
Btbd8	G	A	5: 107,651,583 (GRCm39)	V159I	probably benign	Het
C2cd2l	T	C	9: 44,224,788 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Ccdc171	A	T	4: 83,661,234 (GRCm39)	T1115S	probably damaging	Het
Chst2	C	T	9: 95,287,803 (GRCm39)	G181D	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Cpt1a	A	C	19: 3,412,152 (GRCm39)	D208A	probably benign	Het
Crocc2	A	G	1: 93,141,754 (GRCm39)	E1183G	probably benign	Het
Defa39	G	A	8: 22,193,485 (GRCm39)	S45F	possibly damaging	Het
Dlg5	T	A	14: 24,208,128 (GRCm39)	H1003L	probably damaging	Het
Dok2	A	T	14: 71,013,158 (GRCm39)	I109L	probably benign	Het
Dpy19l4	A	T	4: 11,285,111 (GRCm39)	I465K	probably damaging	Het
Dync1h1	A	T	12: 110,612,639 (GRCm39)	D2838V	probably damaging	Het
Frem3	A	G	8: 81,339,644 (GRCm39)	R646G	possibly damaging	Het
Gcfc2	T	A	6: 81,923,477 (GRCm39)	F514I	probably damaging	Het
Gm8104	T	C	14: 42,958,942 (GRCm39)	M44T	probably benign	Het
Golph3l	T	A	3: 95,524,750 (GRCm39)	W334R	probably damaging	Het
Gpr179	A	T	11: 97,235,002 (GRCm39)	F443I	probably damaging	Het
Ift172	A	G	5: 31,413,927 (GRCm39)	V1467A	probably benign	Het
Ift172	A	T	5: 31,444,289 (GRCm39)	D44E	probably damaging	Het
Il1rl1	C	T	1: 40,501,016 (GRCm39)	A464V	possibly damaging	Het
Irx5	A	G	8: 93,086,481 (GRCm39)	E188G	probably damaging	Het
Jak1	A	G	4: 101,019,123 (GRCm39)	V710A	probably damaging	Het
Kcng4	A	T	8: 120,359,693 (GRCm39)	F228I	probably damaging	Het
Lifr	A	G	15: 7,196,530 (GRCm39)	N238S	probably benign	Het
Ltbp3	C	A	19: 5,797,505 (GRCm39)	H414Q	probably damaging	Het
Mcpt8	A	G	14: 56,319,794 (GRCm39)	C219R	probably benign	Het
Mepce	A	T	5: 137,783,950 (GRCm39)	N125K	possibly damaging	Het
Mfap3	T	C	11: 57,420,598 (GRCm39)	F193S	probably damaging	Het
Miox	T	A	15: 89,219,702 (GRCm39)	Y63*	probably null	Het
Msl2	A	T	9: 100,978,949 (GRCm39)	H441L	probably benign	Het
Nemp2	T	A	1: 52,680,069 (GRCm39)	S98T	possibly damaging	Het
Neto2	G	T	8: 86,367,187 (GRCm39)	A547E	probably benign	Het
Nol12	T	C	15: 78,825,033 (GRCm39)		probably benign	Het
Npr3	T	C	15: 11,845,361 (GRCm39)	I504V	probably damaging	Het
Pcdhb3	T	C	18: 37,433,998 (GRCm39)		probably benign	Het
Pear1	C	A	3: 87,659,827 (GRCm39)	G720W	probably damaging	Het
Pibf1	T	G	14: 99,344,834 (GRCm39)	D151E	probably damaging	Het
Pla2g6	T	A	15: 79,193,016 (GRCm39)	N217I	probably damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Plcl1	C	T	1: 55,735,474 (GRCm39)	L272F	probably damaging	Het
Ppp4r4	A	T	12: 103,571,228 (GRCm39)	K656*	probably null	Het
Prr22	G	A	17: 57,078,490 (GRCm39)	M214I	probably benign	Het
Ror1	G	T	4: 100,269,128 (GRCm39)	R322L	possibly damaging	Het
Sh3tc2	G	A	18: 62,108,642 (GRCm39)	W244*	probably null	Het
Slamf6	A	G	1: 171,775,615 (GRCm39)	N320S	probably null	Het
Slc1a6	A	C	10: 78,635,919 (GRCm39)	D328A	possibly damaging	Het
Sorl1	G	T	9: 41,881,038 (GRCm39)	T2161K	probably benign	Het
Spata31e2	T	A	1: 26,721,586 (GRCm39)	D1198V	probably benign	Het
Sstr2	T	C	11: 113,515,375 (GRCm39)	F98S	probably damaging	Het
Stk33	A	T	7: 108,920,672 (GRCm39)	D348E	probably benign	Het
Sulf1	T	A	1: 12,908,664 (GRCm39)	L559Q	probably damaging	Het
Syne2	A	G	12: 76,035,927 (GRCm39)	D3738G	probably benign	Het
Taok3	A	T	5: 117,366,095 (GRCm39)	Q382L	probably benign	Het
Tet2	T	A	3: 133,192,178 (GRCm39)	H752L	possibly damaging	Het
Tia1	A	C	6: 86,403,638 (GRCm39)	K285T	probably damaging	Het
Tle3	G	T	9: 61,309,206 (GRCm39)		probably null	Het
Top1mt	T	C	15: 75,537,505 (GRCm39)	T414A	possibly damaging	Het
Ubc	A	T	5: 125,464,406 (GRCm39)	I307N	probably damaging	Het
Vmn2r96	A	T	17: 18,804,124 (GRCm39)	D266V	possibly damaging	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zfp456	T	A	13: 67,510,483 (GRCm39)	K102*	probably null	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	probably damaging	Het

Other mutations in Or4c106

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Or4c106	APN	2	88,682,669 (GRCm39)	missense	probably damaging	0.99
R1583:Or4c106	UTSW	2	88,682,606 (GRCm39)	missense	probably damaging	1.00
R2151:Or4c106	UTSW	2	88,683,128 (GRCm39)	missense	probably damaging	1.00
R2153:Or4c106	UTSW	2	88,683,128 (GRCm39)	missense	probably damaging	1.00
R4959:Or4c106	UTSW	2	88,682,516 (GRCm39)	missense	possibly damaging	0.79
R4973:Or4c106	UTSW	2	88,682,516 (GRCm39)	missense	possibly damaging	0.79
R5048:Or4c106	UTSW	2	88,682,807 (GRCm39)	missense	possibly damaging	0.91
R5164:Or4c106	UTSW	2	88,682,914 (GRCm39)	missense	probably benign	0.30
R5319:Or4c106	UTSW	2	88,683,122 (GRCm39)	missense	probably damaging	0.99
R5399:Or4c106	UTSW	2	88,682,999 (GRCm39)	missense	probably damaging	1.00
R5688:Or4c106	UTSW	2	88,683,023 (GRCm39)	missense	probably benign	0.07
R6481:Or4c106	UTSW	2	88,682,863 (GRCm39)	missense	probably damaging	1.00
R7456:Or4c106	UTSW	2	88,682,563 (GRCm39)	missense	probably damaging	0.99
R7469:Or4c106	UTSW	2	88,682,847 (GRCm39)	missense	probably benign
R9517:Or4c106	UTSW	2	88,682,947 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTGCCCTGCATATTTGTGTAC -3'
(R):5'- CGCTTTGGGTTAAACTTAAATCAGAGG -3'

Sequencing Primer
(F):5'- TGTGTACATGAGACCTGCAGCTAC -3'
(R):5'- CTTAAATCAGAGGCTGGCTGGC -3'

Posted On

2018-04-27