Mutagenetix > Incidental Mutation

Incidental Mutation 'R6010:Or4c122'

479688

Institutional Source

Beutler Lab

Gene Symbol

Or4c122

Ensembl Gene

ENSMUSG00000099486

Gene Name

olfactory receptor family 4 subfamily C member 122

Synonyms

GA_x6K02T2Q125-50696209-50695274, Olfr1228, MOR233-1

MMRRC Submission

044187-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6010 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89079065-89080036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89079087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 305 (I305K)

Ref Sequence

ENSEMBL: ENSMUSP00000150633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000190757] [ENSMUST00000215447] [ENSMUST00000216392]

AlphaFold

Q8VGM9

Predicted Effect

probably benign
Transcript: ENSMUST00000190757
AA Change: I317K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139920
Gene: ENSMUSG00000099486
AA Change: I317K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	51	298	2.6e-27	PFAM
Pfam:7tm_4	150	292	2.9e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215447
AA Change: I305K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215627

Predicted Effect

probably benign
Transcript: ENSMUST00000216392
AA Change: I305K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	G	4: 56,743,870 (GRCm39)	I132M	possibly damaging	Het
Agap2	A	T	10: 126,926,779 (GRCm39)	I939F	probably damaging	Het
Ahctf1	A	G	1: 179,623,378 (GRCm39)	V80A	possibly damaging	Het
Atxn3	T	C	12: 101,914,285 (GRCm39)	D67G	probably damaging	Het
Avl9	G	A	6: 56,730,375 (GRCm39)	V573M	possibly damaging	Het
Baz1b	G	A	5: 135,246,305 (GRCm39)	E585K	possibly damaging	Het
Brms1l	T	C	12: 55,914,985 (GRCm39)	F298S	possibly damaging	Het
Camk2d	G	A	3: 126,591,363 (GRCm39)	V278I	possibly damaging	Het
Car10	A	G	11: 93,490,149 (GRCm39)	I297V	possibly damaging	Het
Cfap65	C	T	1: 74,962,190 (GRCm39)	C677Y	probably damaging	Het
Cfap74	T	A	4: 155,538,495 (GRCm39)	D872E	possibly damaging	Het
Cgrrf1	A	C	14: 47,091,158 (GRCm39)	Q227H	probably damaging	Het
Chil4	A	G	3: 106,121,711 (GRCm39)	I46T	probably damaging	Het
Chpf2	A	T	5: 24,796,917 (GRCm39)	H621L	probably damaging	Het
Cluap1	C	T	16: 3,755,437 (GRCm39)	R351W	possibly damaging	Het
Cnot6	A	T	11: 49,574,066 (GRCm39)	Y201*	probably null	Het
Col15a1	T	C	4: 47,245,630 (GRCm39)	V127A	probably benign	Het
Col6a3	C	T	1: 90,701,219 (GRCm39)	V2566I	unknown	Het
Cope	T	A	8: 70,761,162 (GRCm39)	M88K	probably damaging	Het
Cops4	A	G	5: 100,691,776 (GRCm39)	I358M	possibly damaging	Het
Coro7	T	C	16: 4,487,820 (GRCm39)	E130G	possibly damaging	Het
Csrp3	A	G	7: 48,485,213 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,701,160 (GRCm39)	F217L	probably damaging	Het
Dmac1	A	G	4: 75,196,473 (GRCm39)	S6P	unknown	Het
Drd4	A	T	7: 140,874,709 (GRCm39)	I367F	probably damaging	Het
Efcc1	T	A	6: 87,730,711 (GRCm39)		probably null	Het
Emid1	A	T	11: 5,085,389 (GRCm39)	M119K	possibly damaging	Het
Fbn2	C	T	18: 58,202,596 (GRCm39)	D1237N	probably benign	Het
Fbxl18	C	A	5: 142,858,153 (GRCm39)	R761L	probably damaging	Het
Gbp10	A	C	5: 105,372,205 (GRCm39)	L185R	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gucd1	G	T	10: 75,256,600 (GRCm39)		probably benign	Het
Helb	G	A	10: 119,941,788 (GRCm39)	T300M	probably damaging	Het
Ifna11	A	T	4: 88,738,278 (GRCm39)	H28L	probably benign	Het
Kalrn	T	A	16: 33,830,950 (GRCm39)	N723I	probably benign	Het
Kcnb2	C	T	1: 15,780,790 (GRCm39)	S554F	possibly damaging	Het
Med1	A	C	11: 98,049,188 (GRCm39)	V536G	probably damaging	Het
Nanog	A	C	6: 122,690,255 (GRCm39)	N195T	probably benign	Het
Neu1	C	T	17: 35,151,031 (GRCm39)	S94F	probably damaging	Het
Nop58	T	A	1: 59,740,071 (GRCm39)	S154R	probably damaging	Het
Npl	A	T	1: 153,388,314 (GRCm39)	L239*	probably null	Het
Nrg1	G	A	8: 32,308,600 (GRCm39)	T483M	probably damaging	Het
Nup98	G	T	7: 101,829,636 (GRCm39)	F391L	probably damaging	Het
Or5ar1	T	C	2: 85,671,905 (GRCm39)	I77V	probably benign	Het
Or5d47	A	T	2: 87,804,886 (GRCm39)	V41E	probably damaging	Het
Or5g26	T	C	2: 85,494,374 (GRCm39)	I135V	probably benign	Het
Pacsin2	A	G	15: 83,266,020 (GRCm39)	V59A	possibly damaging	Het
Pcsk9	C	T	4: 106,311,469 (GRCm39)	R254H	possibly damaging	Het
Pierce2	A	T	9: 72,887,488 (GRCm39)		probably null	Het
Psme2	C	A	14: 55,824,980 (GRCm39)		probably null	Het
Ptprc	T	A	1: 138,028,794 (GRCm39)	H468L	probably benign	Het
Rbp3	T	A	14: 33,676,604 (GRCm39)	I184N	probably damaging	Het
Serpinb1c	A	G	13: 33,066,042 (GRCm39)	L301P	probably damaging	Het
Smim6	G	T	11: 115,804,219 (GRCm39)	G2V	probably damaging	Het
Snrpb2	A	G	2: 142,912,815 (GRCm39)	D146G	possibly damaging	Het
Svep1	T	A	4: 58,115,832 (GRCm39)	S954C	possibly damaging	Het
Telo2	G	T	17: 25,323,852 (GRCm39)	T568N	possibly damaging	Het
Tpp2	T	C	1: 43,990,373 (GRCm39)		probably null	Het
Upf1	A	G	8: 70,789,675 (GRCm39)	V720A	probably damaging	Het
Vmn1r81	T	C	7: 11,994,349 (GRCm39)	I86M	possibly damaging	Het
Vps8	T	A	16: 21,363,955 (GRCm39)		probably benign	Het
Wdr70	T	C	15: 7,916,900 (GRCm39)		probably null	Het
Zfp385c	A	T	11: 100,548,363 (GRCm39)	S30T	probably benign	Het
Zfp607a	T	A	7: 27,577,254 (GRCm39)	L108*	probably null	Het

Other mutations in Or4c122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01804:Or4c122	APN	2	89,079,566 (GRCm39)	missense	probably benign	0.00
IGL02588:Or4c122	APN	2	89,080,042 (GRCm39)	splice site	probably benign
R0384:Or4c122	UTSW	2	89,079,414 (GRCm39)	missense	possibly damaging	0.82
R0600:Or4c122	UTSW	2	89,079,742 (GRCm39)	nonsense	probably null
R0613:Or4c122	UTSW	2	89,079,469 (GRCm39)	missense	probably damaging	1.00
R1564:Or4c122	UTSW	2	89,080,016 (GRCm39)	missense	probably benign	0.00
R2115:Or4c122	UTSW	2	89,079,874 (GRCm39)	missense	probably damaging	1.00
R2313:Or4c122	UTSW	2	89,079,285 (GRCm39)	missense	probably damaging	1.00
R3083:Or4c122	UTSW	2	89,079,345 (GRCm39)	missense	probably damaging	0.96
R3790:Or4c122	UTSW	2	89,079,337 (GRCm39)	missense	probably benign	0.02
R3948:Or4c122	UTSW	2	89,079,336 (GRCm39)	missense	possibly damaging	0.95
R4373:Or4c122	UTSW	2	89,079,589 (GRCm39)	missense	possibly damaging	0.90
R4376:Or4c122	UTSW	2	89,079,589 (GRCm39)	missense	possibly damaging	0.90
R4825:Or4c122	UTSW	2	89,079,034 (GRCm39)	splice site	probably null
R5022:Or4c122	UTSW	2	89,079,761 (GRCm39)	missense	probably benign	0.00
R5141:Or4c122	UTSW	2	89,079,473 (GRCm39)	nonsense	probably null
R5313:Or4c122	UTSW	2	89,079,721 (GRCm39)	missense	probably benign	0.05
R7354:Or4c122	UTSW	2	89,079,031 (GRCm39)	splice site	probably null
R7548:Or4c122	UTSW	2	89,079,430 (GRCm39)	missense	probably benign	0.09
R8014:Or4c122	UTSW	2	89,079,343 (GRCm39)	missense	probably damaging	0.98
R8098:Or4c122	UTSW	2	89,079,652 (GRCm39)	missense	possibly damaging	0.95
R8280:Or4c122	UTSW	2	89,079,234 (GRCm39)	missense	probably damaging	0.98
R8554:Or4c122	UTSW	2	89,079,595 (GRCm39)	missense	possibly damaging	0.48
R8678:Or4c122	UTSW	2	89,079,351 (GRCm39)	missense	probably damaging	1.00
R8725:Or4c122	UTSW	2	89,079,658 (GRCm39)	missense	probably benign	0.00
R9039:Or4c122	UTSW	2	89,079,545 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AACTGGTTTTGGGAAGAGACCTTG -3'
(R):5'- TGGATCCCACATTACAGTTGTG -3'

Sequencing Primer
(F):5'- GGGAAGAGACCTTGGCTATATAATAC -3'
(R):5'- GATCCCACATTACAGTTGTGCTTTTG -3'

Posted On

2017-06-26