Mutagenetix > Incidental Mutation

Incidental Mutation 'R6007:Or11j4'

479552

Institutional Source

Beutler Lab

Gene Symbol

Or11j4

Ensembl Gene

ENSMUSG00000047716

Gene Name

olfactory receptor family 11 subfamily J member 4

Synonyms

GA_x6K02T2PMLR-6089963-6090901, MOR106-5, Olfr736

MMRRC Submission

044184-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R6007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50630215-50631153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50630948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 245 (C245F)

Ref Sequence

ENSEMBL: ENSMUSP00000149654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058965] [ENSMUST00000213402] [ENSMUST00000213755] [ENSMUST00000215227] [ENSMUST00000215263]

AlphaFold

Q8VFT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058965
AA Change: C245F

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

SMART Domains

Protein: ENSMUSP00000062700
Gene: ENSMUSG00000047716
AA Change: C245F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.5e-45	PFAM
Pfam:7TM_GPCR_Srsx	37	175	6.9e-7	PFAM
Pfam:7tm_1	43	294	4.7e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213402
AA Change: C245F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213755
AA Change: C245F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215227
AA Change: C245F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215263
AA Change: C245F

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

Meta Mutation Damage Score

0.5902

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.6%

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,137,900 (GRCm39)	A9S	possibly damaging	Het
4930407I10Rik	C	G	15: 81,946,940 (GRCm39)	T279S	probably benign	Het
A830018L16Rik	A	G	1: 11,582,140 (GRCm39)		probably null	Het
Abcg5	T	G	17: 84,976,392 (GRCm39)	I482L	probably benign	Het
Adgrf5	T	A	17: 43,748,462 (GRCm39)	D44E	probably damaging	Het
Amh	A	G	10: 80,641,305 (GRCm39)	N75S	probably benign	Het
Arl8a	T	C	1: 135,080,606 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,784,480 (GRCm39)	Y63H	possibly damaging	Het
Chd5	A	T	4: 152,463,878 (GRCm39)	E1449V	probably null	Het
Chml	A	G	1: 175,515,594 (GRCm39)	V109A	probably benign	Het
Crybg3	G	T	16: 59,374,837 (GRCm39)	S2139*	probably null	Het
Cyp2c68	T	C	19: 39,722,780 (GRCm39)	D256G	probably damaging	Het
Dchs2	G	T	3: 83,253,534 (GRCm39)	V2315L	probably damaging	Het
Ddx20	T	C	3: 105,590,736 (GRCm39)	I227V	possibly damaging	Het
Drg2	T	C	11: 60,353,451 (GRCm39)	V266A	possibly damaging	Het
Flcn	C	A	11: 59,683,448 (GRCm39)	E576D	probably benign	Het
Fstl5	T	A	3: 76,317,899 (GRCm39)	D188E	probably damaging	Het
Gm14496	A	G	2: 181,639,323 (GRCm39)	Q471R	probably benign	Het
Gm43772	T	C	5: 66,332,334 (GRCm39)		probably benign	Het
Gpc6	C	T	14: 118,188,673 (GRCm39)	H436Y	probably damaging	Het
Gpr179	A	T	11: 97,226,628 (GRCm39)	C1842*	probably null	Het
Ints8	G	A	4: 11,208,845 (GRCm39)	T934I	possibly damaging	Het
Iqsec1	G	T	6: 90,637,969 (GRCm39)	C1050*	probably null	Het
Larp4b	T	C	13: 9,218,793 (GRCm39)	V510A	probably benign	Het
Map3k13	A	T	16: 21,723,933 (GRCm39)	D305V	possibly damaging	Het
Mc5r	A	T	18: 68,472,318 (GRCm39)	I226F	possibly damaging	Het
Mme	G	A	3: 63,250,929 (GRCm39)	W323*	probably null	Het
Mrpl24	A	G	3: 87,829,705 (GRCm39)	Y97C	probably benign	Het
Mslnl	G	A	17: 25,965,749 (GRCm39)	S541N	probably benign	Het
Npepl1	T	C	2: 173,962,850 (GRCm39)	V412A	probably benign	Het
Nrg3	T	A	14: 39,194,409 (GRCm39)	K117*	probably null	Het
Or4f52	T	C	2: 111,061,275 (GRCm39)	T288A	probably benign	Het
Orc2	A	T	1: 58,506,851 (GRCm39)	M447K	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Plxnc1	T	C	10: 94,629,152 (GRCm39)	I1541V	possibly damaging	Het
Rapgef4	T	C	2: 72,010,293 (GRCm39)	Y284H	possibly damaging	Het
Rnf180	C	A	13: 105,317,957 (GRCm39)		probably null	Het
Secisbp2	T	C	13: 51,819,395 (GRCm39)	I325T	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slc4a10	A	G	2: 62,099,216 (GRCm39)	M625V	probably benign	Het
Synpo	T	A	18: 60,736,687 (GRCm39)	M420L	probably benign	Het
Tmem116	A	C	5: 121,655,955 (GRCm39)	*147C	probably null	Het
Top2b	G	A	14: 16,423,779 (GRCm38)		probably null	Het
Trp53bp2	T	A	1: 182,283,305 (GRCm39)	C1014S	probably damaging	Het
Unc5b	A	G	10: 60,601,139 (GRCm39)	F896L	probably damaging	Het
Vil1	T	C	1: 74,459,026 (GRCm39)	W177R	probably damaging	Het
Vmn2r107	A	T	17: 20,595,316 (GRCm39)	Y623F	probably benign	Het
Vmn2r86	T	C	10: 130,289,535 (GRCm39)	Y120C	probably damaging	Het
Wdr18	A	G	10: 79,801,177 (GRCm39)	T197A	possibly damaging	Het
Ylpm1	A	G	12: 85,076,064 (GRCm39)	M472V	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp677	A	G	17: 21,617,918 (GRCm39)	Y325C	probably damaging	Het
Zfyve1	A	G	12: 83,605,478 (GRCm39)	F407S	probably damaging	Het

Other mutations in Or11j4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01765:Or11j4	APN	14	50,630,291 (GRCm39)	missense	probably benign	0.33
IGL01952:Or11j4	APN	14	50,630,860 (GRCm39)	missense	probably benign	0.02
IGL01996:Or11j4	APN	14	50,631,116 (GRCm39)	missense	probably damaging	0.99
IGL02694:Or11j4	APN	14	50,630,257 (GRCm39)	missense	probably benign	0.02
IGL02717:Or11j4	APN	14	50,631,104 (GRCm39)	missense	probably damaging	1.00
IGL03185:Or11j4	APN	14	50,630,855 (GRCm39)	missense	probably damaging	0.99
IGL03218:Or11j4	APN	14	50,631,115 (GRCm39)	missense	probably damaging	0.98
IGL03048:Or11j4	UTSW	14	50,630,245 (GRCm39)	missense	possibly damaging	0.47
R0066:Or11j4	UTSW	14	50,630,659 (GRCm39)	missense	probably benign	0.08
R0066:Or11j4	UTSW	14	50,630,659 (GRCm39)	missense	probably benign	0.08
R0089:Or11j4	UTSW	14	50,630,321 (GRCm39)	missense	probably benign
R0254:Or11j4	UTSW	14	50,630,536 (GRCm39)	missense	probably damaging	0.99
R0284:Or11j4	UTSW	14	50,630,452 (GRCm39)	missense	probably damaging	1.00
R1800:Or11j4	UTSW	14	50,630,786 (GRCm39)	nonsense	probably null
R3885:Or11j4	UTSW	14	50,630,326 (GRCm39)	missense	probably benign	0.05
R4302:Or11j4	UTSW	14	50,630,903 (GRCm39)	missense	probably benign	0.23
R4452:Or11j4	UTSW	14	50,630,369 (GRCm39)	missense	probably benign
R4705:Or11j4	UTSW	14	50,630,257 (GRCm39)	missense	probably benign	0.02
R5340:Or11j4	UTSW	14	50,630,677 (GRCm39)	missense	probably damaging	0.98
R6338:Or11j4	UTSW	14	50,630,857 (GRCm39)	missense	possibly damaging	0.47
R6358:Or11j4	UTSW	14	50,630,845 (GRCm39)	missense	possibly damaging	0.78
R6521:Or11j4	UTSW	14	50,631,005 (GRCm39)	missense	possibly damaging	0.95
R6527:Or11j4	UTSW	14	50,630,885 (GRCm39)	nonsense	probably null
R6777:Or11j4	UTSW	14	50,631,115 (GRCm39)	missense	probably damaging	0.98
R6903:Or11j4	UTSW	14	50,631,089 (GRCm39)	missense	possibly damaging	0.48
R8899:Or11j4	UTSW	14	50,630,269 (GRCm39)	missense	probably damaging	0.99
X0026:Or11j4	UTSW	14	50,630,998 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CCATTTTGTGGGCCAAATGTG -3'
(R):5'- TCCAGTGGTCACATGTTGAAC -3'

Sequencing Primer
(F):5'- GGGCCAAATGTGATAGATGACTTTC -3'
(R):5'- GTTGAACATGTCTAAGACTCCAAGC -3'

Posted On

2017-06-26