Mutagenetix > Incidental Mutation

Incidental Mutation 'R9255:Or12j4'

701806

Institutional Source

Beutler Lab

Gene Symbol

Or12j4

Ensembl Gene

ENSMUSG00000056883

Gene Name

olfactory receptor family 12 subfamily J member 4

Synonyms

MOR252-3P, Olfr533, GA_x6K02T2PBJ9-42615403-42616365

MMRRC Submission

068961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R9255 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140046116-140047078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140046423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 103 (F103S)

Ref Sequence

ENSEMBL: ENSMUSP00000148260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071755] [ENSMUST00000211093] [ENSMUST00000215308] [ENSMUST00000216258] [ENSMUST00000217179]

AlphaFold

Q7TRT7

Predicted Effect

probably damaging
Transcript: ENSMUST00000071755
AA Change: F103S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071667
Gene: ENSMUSG00000056883
AA Change: F103S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	7.3e-49	PFAM
Pfam:7TM_GPCR_Srsx	35	304	3e-6	PFAM
Pfam:7tm_1	41	289	5.6e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211093
AA Change: F103S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215308
AA Change: F103S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216258
AA Change: F103S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217179
AA Change: F103S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,626,795 (GRCm39)	Y549C	probably damaging	Het
Abca13	A	C	11: 9,278,213 (GRCm39)	N3131T	probably damaging	Het
Acap3	T	C	4: 155,990,145 (GRCm39)	V775A	probably benign	Het
Actn3	T	A	19: 4,921,820 (GRCm39)	I149F	probably damaging	Het
Adcy2	A	T	13: 69,036,199 (GRCm39)	M154K	possibly damaging	Het
Agbl1	A	T	7: 76,416,150 (GRCm39)	M976L	unknown	Het
Agbl3	T	A	6: 34,789,840 (GRCm39)	M531K	probably damaging	Het
Armc8	A	C	9: 99,379,441 (GRCm39)	M495R	possibly damaging	Het
Astn2	T	A	4: 65,563,085 (GRCm39)	K899*	probably null	Het
Atp10b	T	A	11: 43,107,148 (GRCm39)	H727Q	probably damaging	Het
Bach1	A	G	16: 87,519,401 (GRCm39)	I564V	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc136	T	A	6: 29,409,237 (GRCm39)	H183Q	probably benign	Het
Celf3	T	C	3: 94,392,594 (GRCm39)	F98L	probably benign	Het
Chrd	G	A	16: 20,558,801 (GRCm39)	C845Y	probably damaging	Het
Clec1a	T	G	6: 129,409,208 (GRCm39)	K139N	probably benign	Het
Cntln	T	G	4: 85,019,103 (GRCm39)	N130K	possibly damaging	Het
Cog1	A	T	11: 113,547,019 (GRCm39)	T538S	probably benign	Het
Cog8	A	G	8: 107,779,383 (GRCm39)	I298T	probably damaging	Het
Dio1	A	T	4: 107,164,102 (GRCm39)	W72R	probably damaging	Het
Elapor1	T	C	3: 108,376,864 (GRCm39)	R453G	probably damaging	Het
Exph5	T	A	9: 53,284,609 (GRCm39)	N563K	possibly damaging	Het
Foxn1	C	A	11: 78,252,399 (GRCm39)	E330*	probably null	Het
Fzd7	G	T	1: 59,522,495 (GRCm39)	R126L	possibly damaging	Het
Gmnn	A	G	13: 24,937,351 (GRCm39)	Y147H	probably benign	Het
Gpa33	A	G	1: 165,980,186 (GRCm39)	N83S	probably benign	Het
Hdac4	A	G	1: 91,889,173 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,261,972 (GRCm39)	D2691G	probably benign	Het
Ifi203	A	T	1: 173,756,787 (GRCm39)	I332N	unknown	Het
Inpp1	A	G	1: 52,829,306 (GRCm39)	S238P	probably benign	Het
Jmy	A	G	13: 93,589,894 (GRCm39)		probably null	Het
Kcnab3	C	T	11: 69,222,337 (GRCm39)	Q327*	probably null	Het
Kctd1	A	G	18: 15,194,853 (GRCm39)	V590A	probably benign	Het
Lrrc8e	A	T	8: 4,284,504 (GRCm39)	H243L	probably damaging	Het
Lsr	A	G	7: 30,657,670 (GRCm39)	L498S	probably benign	Het
Mapkbp1	A	G	2: 119,843,556 (GRCm39)	D268G	probably damaging	Het
Mfn1	T	C	3: 32,598,287 (GRCm39)	V203A	possibly damaging	Het
Micu1	T	A	10: 59,604,051 (GRCm39)	I212N	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or11i1	A	G	3: 106,729,737 (GRCm39)	I46T	probably benign	Het
Or8g30	T	C	9: 39,230,487 (GRCm39)	Y141C	probably benign	Het
Pabpc6	T	C	17: 9,886,769 (GRCm39)	E594G	probably damaging	Het
Pald1	A	T	10: 61,176,989 (GRCm39)		probably null	Het
Pdpk1	A	G	17: 24,325,938 (GRCm39)	I113T	possibly damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pi4kb	T	C	3: 94,906,219 (GRCm39)	S589P	probably damaging	Het
Pik3ca	G	A	3: 32,496,981 (GRCm39)		probably null	Het
Plekhg4	A	T	8: 106,103,271 (GRCm39)	M315L	probably benign	Het
Proz	G	A	8: 13,123,472 (GRCm39)	V248M	possibly damaging	Het
Prss1	T	C	6: 41,438,183 (GRCm39)	Y37H	probably damaging	Het
R3hdml	T	A	2: 163,337,612 (GRCm39)	W89R	probably damaging	Het
Ranbp3l	A	G	15: 9,057,293 (GRCm39)	T319A	probably benign	Het
Scn4a	C	T	11: 106,215,054 (GRCm39)	A1246T	probably damaging	Het
Sdr42e1	T	A	8: 118,389,999 (GRCm39)	Y214F	probably benign	Het
Slc10a2	C	T	8: 5,148,565 (GRCm39)	V127I	probably benign	Het
Slc16a1	T	A	3: 104,560,148 (GRCm39)	M151K	possibly damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Ssbp2	T	A	13: 91,818,525 (GRCm39)	M171K	possibly damaging	Het
Styk1	A	G	6: 131,286,946 (GRCm39)	V183A	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tspan18	T	G	2: 93,040,200 (GRCm39)	D185A	probably benign	Het
Tti2	T	A	8: 31,645,570 (GRCm39)	F320Y	probably damaging	Het
Ttn	T	C	2: 76,608,621 (GRCm39)	I17798M	probably damaging	Het
Ube2j1	C	A	4: 33,036,759 (GRCm39)	H28N	probably benign	Het
Vmn1r195	A	C	13: 22,463,342 (GRCm39)	I271L	possibly damaging	Het
Vmn2r81	A	C	10: 79,103,166 (GRCm39)	T120P	possibly damaging	Het
Vmn2r-ps158	A	T	7: 42,673,965 (GRCm39)	Y348F	possibly damaging	Het
Wtip	A	G	7: 33,824,908 (GRCm39)		probably null	Het
Zc3h12d	C	T	10: 7,729,022 (GRCm39)	H129Y	probably damaging	Het
Zfp600	T	G	4: 146,131,673 (GRCm39)	S114A	possibly damaging	Het

Other mutations in Or12j4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Or12j4	APN	7	140,046,292 (GRCm39)	missense	probably damaging	0.99
IGL02582:Or12j4	APN	7	140,046,560 (GRCm39)	missense	probably benign
IGL02954:Or12j4	APN	7	140,046,353 (GRCm39)	nonsense	probably null
R0790:Or12j4	UTSW	7	140,046,962 (GRCm39)	missense	possibly damaging	0.79
R1754:Or12j4	UTSW	7	140,046,773 (GRCm39)	missense	probably damaging	1.00
R1965:Or12j4	UTSW	7	140,046,574 (GRCm39)	missense	probably benign
R2155:Or12j4	UTSW	7	140,046,504 (GRCm39)	missense	probably benign	0.13
R4613:Or12j4	UTSW	7	140,046,981 (GRCm39)	missense	probably damaging	1.00
R4836:Or12j4	UTSW	7	140,046,989 (GRCm39)	missense	probably damaging	1.00
R5493:Or12j4	UTSW	7	140,046,720 (GRCm39)	missense	probably damaging	1.00
R5694:Or12j4	UTSW	7	140,046,644 (GRCm39)	missense	probably benign	0.28
R6101:Or12j4	UTSW	7	140,046,432 (GRCm39)	missense	probably benign	0.31
R6156:Or12j4	UTSW	7	140,046,758 (GRCm39)	missense	probably benign
R6519:Or12j4	UTSW	7	140,046,458 (GRCm39)	missense	probably benign	0.01
R6672:Or12j4	UTSW	7	140,046,648 (GRCm39)	missense	probably damaging	1.00
R6736:Or12j4	UTSW	7	140,046,834 (GRCm39)	missense	probably damaging	1.00
R6736:Or12j4	UTSW	7	140,046,800 (GRCm39)	missense	probably damaging	1.00
R7086:Or12j4	UTSW	7	140,046,341 (GRCm39)	missense	possibly damaging	0.89
R7174:Or12j4	UTSW	7	140,047,076 (GRCm39)	makesense	probably null
R7465:Or12j4	UTSW	7	140,046,711 (GRCm39)	missense	probably damaging	0.99
R7486:Or12j4	UTSW	7	140,045,947 (GRCm39)	start gained	probably benign
R7872:Or12j4	UTSW	7	140,046,696 (GRCm39)	missense	probably damaging	1.00
R9013:Or12j4	UTSW	7	140,046,179 (GRCm39)	missense	probably benign
R9014:Or12j4	UTSW	7	140,045,883 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGGTCCAGGATGTTCTCTTC -3'
(R):5'- TCAGACAAGTGAGCACCAATG -3'

Sequencing Primer
(F):5'- AATGGCCTGATCATCGCGAC -3'
(R):5'- TGAATTGAAAGCTCCAGTGAACC -3'

Posted On

2022-03-25