Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Or52e19b'

672802

Institutional Source

Beutler Lab

Gene Symbol

Or52e19b

Ensembl Gene

ENSMUSG00000059874

Gene Name

olfactory receptor family 52 subfamily E member 19B

Synonyms

MOR32-2, GA_x6K02T2PBJ9-6092550-6092362, GA_x6K02T2PBJ9-6096387-6095449, Olfr604, Olfr603, MOR32-14_i

MMRRC Submission

068727-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103032269-103033207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103032825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 128 (I128N)

Ref Sequence

ENSEMBL: ENSMUSP00000151321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071844] [ENSMUST00000218246]

AlphaFold

L7N1Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000071844
AA Change: I128N

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

SMART Domains

Protein: ENSMUSP00000071744
Gene: ENSMUSG00000059874
AA Change: I128N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.7e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	210	1.9e-10	PFAM
Pfam:7tm_1	43	293	5.4e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000218246
AA Change: I128N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,400,361 (GRCm39)	V139A	probably benign	Het
Aass	A	T	6: 23,097,195 (GRCm39)	Y41*	probably null	Het
AI429214	G	A	8: 37,461,268 (GRCm39)	V139I	probably benign	Het
Cacna1a	G	A	8: 85,365,426 (GRCm39)	A2190T	probably benign	Het
Cstpp1	A	G	2: 91,107,343 (GRCm39)	Y320H	probably benign	Het
Cutc	T	C	19: 43,744,113 (GRCm39)	V38A	probably benign	Het
Cxcl10	G	T	5: 92,495,230 (GRCm39)	P98H	probably damaging	Het
Dop1a	T	C	9: 86,396,003 (GRCm39)	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,454,631 (GRCm39)	L117P	probably damaging	Het
Emc3	A	G	6: 113,492,868 (GRCm39)	F261S	probably damaging	Het
Ephx2	T	C	14: 66,344,725 (GRCm39)	T200A	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
Ethe1	T	C	7: 24,305,727 (GRCm39)	I158T	probably damaging	Het
Fancm	C	T	12: 65,167,331 (GRCm39)	R1547C	probably damaging	Het
Fer1l4	T	A	2: 155,890,143 (GRCm39)	T261S	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gabrp	A	T	11: 33,504,464 (GRCm39)	S284T	possibly damaging	Het
Gga2	G	A	7: 121,590,845 (GRCm39)	R488*	probably null	Het
Gm9758	A	G	5: 14,962,230 (GRCm39)	L126S	probably damaging	Het
Gse1	T	C	8: 121,294,542 (GRCm39)	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,954,068 (GRCm39)	S2P	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Huwe1	A	G	X: 150,669,993 (GRCm39)	K1482R	probably benign	Het
Lama2	A	T	10: 27,063,869 (GRCm39)	W1307R	probably damaging	Het
Map3k6	A	G	4: 132,974,071 (GRCm39)	K517E	probably benign	Het
Mbl1	T	A	14: 40,875,555 (GRCm39)	L3Q	unknown	Het
Mepe	G	T	5: 104,485,151 (GRCm39)	R97L	probably benign	Het
Minpp1	T	A	19: 32,463,747 (GRCm39)	M136K	possibly damaging	Het
Mrgprb1	T	A	7: 48,097,070 (GRCm39)	I281F	probably benign	Het
Naip5	T	C	13: 100,349,207 (GRCm39)	I1374V	probably benign	Het
Or14j8	A	G	17: 38,263,273 (GRCm39)	I214T	probably damaging	Het
Or4c12	A	G	2: 89,773,790 (GRCm39)	L223S	probably damaging	Het
Or8g34	C	T	9: 39,373,387 (GRCm39)	S217F	probably damaging	Het
Or8g37	G	T	9: 39,730,939 (GRCm39)	M1I	probably null	Het
Pamr1	T	G	2: 102,464,766 (GRCm39)	V305G	probably benign	Het
Pcbp3	T	C	10: 76,625,670 (GRCm39)	T125A	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 71,941,894 (GRCm39)	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,702,774 (GRCm39)	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,175,429 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,042,971 (GRCm39)	K480E	probably damaging	Het
Psd3	A	G	8: 68,413,135 (GRCm39)	I465T	possibly damaging	Het
Pskh1	C	T	8: 106,656,352 (GRCm39)	R343W	probably damaging	Het
Ptprz1	A	T	6: 23,007,371 (GRCm39)	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,808,416 (GRCm39)	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,023 (GRCm39)		probably benign	Het
Recql	G	A	6: 142,304,612 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,196,332 (GRCm39)	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,268,085 (GRCm39)	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,378,056 (GRCm39)	V468A	probably benign	Het
Ryr2	T	A	13: 11,750,509 (GRCm39)	I1921F	possibly damaging	Het
Sirpa	G	A	2: 129,435,558 (GRCm39)	G9D	unknown	Het
Slc28a2b	A	T	2: 122,348,988 (GRCm39)	T305S	possibly damaging	Het
Slc40a1	A	C	1: 45,948,699 (GRCm39)	V527G	probably damaging	Het
Smarca4	T	A	9: 21,547,497 (GRCm39)	M260K	probably benign	Het
Smarca5	A	T	8: 81,460,379 (GRCm39)	M119K	probably benign	Het
Smg1	A	G	7: 117,758,887 (GRCm39)	V2206A	unknown	Het
Sp4	A	T	12: 118,225,624 (GRCm39)	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,182,376 (GRCm39)	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srcap	T	C	7: 127,152,395 (GRCm39)	S2220P	probably benign	Het
Stra6	G	T	9: 58,059,265 (GRCm39)	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,523,335 (GRCm39)	F1626I	probably benign	Het
Tjp1	T	C	7: 64,952,810 (GRCm39)	N1508S	probably benign	Het
Trrap	T	A	5: 144,782,348 (GRCm39)	L3298Q	probably damaging	Het
Tsn	A	G	1: 118,232,470 (GRCm39)	L135P	probably damaging	Het
Ttl	A	T	2: 128,910,778 (GRCm39)	H54L	probably damaging	Het
Ttn	T	A	2: 76,660,251 (GRCm39)	T12110S	unknown	Het
Uba6	T	C	5: 86,296,772 (GRCm39)	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425 (GRCm39)	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 187,995,231 (GRCm39)	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,542,559 (GRCm39)	V158F	probably benign	Het
Wif1	A	G	10: 120,932,621 (GRCm39)	H333R	possibly damaging	Het
Zfp282	T	A	6: 47,881,760 (GRCm39)	N482K	probably benign	Het

Other mutations in Or52e19b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Or52e19b	APN	7	103,032,672 (GRCm39)	missense	probably damaging	0.98
IGL01582:Or52e19b	APN	7	103,032,806 (GRCm39)	nonsense	probably null
IGL01788:Or52e19b	APN	7	103,032,770 (GRCm39)	missense	probably benign	0.00
IGL02837:Or52e19b	UTSW	7	103,032,822 (GRCm39)	missense	probably damaging	1.00
R1807:Or52e19b	UTSW	7	103,032,790 (GRCm39)	missense	probably benign	0.25
R2097:Or52e19b	UTSW	7	103,032,840 (GRCm39)	missense	probably damaging	1.00
R2161:Or52e19b	UTSW	7	103,032,407 (GRCm39)	missense	probably benign	0.01
R4870:Or52e19b	UTSW	7	103,032,840 (GRCm39)	missense	probably damaging	1.00
R5116:Or52e19b	UTSW	7	103,033,071 (GRCm39)	missense	probably benign	0.03
R6263:Or52e19b	UTSW	7	103,032,403 (GRCm39)	missense	possibly damaging	0.88
R6385:Or52e19b	UTSW	7	103,033,104 (GRCm39)	missense	possibly damaging	0.61
R6980:Or52e19b	UTSW	7	103,032,303 (GRCm39)	missense	probably benign	0.01
R7474:Or52e19b	UTSW	7	103,032,969 (GRCm39)	missense	probably damaging	0.99
R7754:Or52e19b	UTSW	7	103,032,945 (GRCm39)	missense	probably damaging	1.00
R7842:Or52e19b	UTSW	7	103,032,783 (GRCm39)	missense	probably benign	0.00
R7947:Or52e19b	UTSW	7	103,032,735 (GRCm39)	missense	possibly damaging	0.95
R7980:Or52e19b	UTSW	7	103,032,970 (GRCm39)	missense	probably damaging	0.99
R8176:Or52e19b	UTSW	7	103,033,071 (GRCm39)	missense	probably benign	0.03
R8523:Or52e19b	UTSW	7	103,032,413 (GRCm39)	missense	probably benign	0.31
R8845:Or52e19b	UTSW	7	103,032,357 (GRCm39)	missense	probably damaging	0.98
R8968:Or52e19b	UTSW	7	103,032,667 (GRCm39)	missense	probably damaging	1.00
R9398:Or52e19b	UTSW	7	103,032,487 (GRCm39)	missense	probably damaging	0.97
R9770:Or52e19b	UTSW	7	103,032,613 (GRCm39)	missense	probably damaging	0.99
Z1177:Or52e19b	UTSW	7	103,033,009 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATCCCCATATGTTCACAGTAGG -3'
(R):5'- ATGAACAGAGTCTTCACCAGCC -3'

Sequencing Primer
(F):5'- CCCATATGTTCACAGTAGGTATGAGG -3'
(R):5'- AGAGTCTTCACCAGCCCATGTTC -3'

Posted On

2021-04-30