Mutagenetix > Incidental Mutation

Incidental Mutation 'R7719:Or4b12'

595092

Institutional Source

Beutler Lab

Gene Symbol

Or4b12

Ensembl Gene

ENSMUSG00000075062

Gene Name

olfactory receptor family 4 subfamily B member 12

Synonyms

GA_x6K02T2Q125-51620802-51619885, Olfr1271, MOR227-5

MMRRC Submission

045776-MU

Accession Numbers

Essential gene?

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

Stock #

R7719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90095855-90096772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90096603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 57 (M57K)

Ref Sequence

ENSEMBL: ENSMUSP00000149028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099751] [ENSMUST00000216383]

AlphaFold

Q8VG62

Predicted Effect

probably damaging
Transcript: ENSMUST00000099751
AA Change: M57K

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

SMART Domains

Protein: ENSMUSP00000097340
Gene: ENSMUSG00000075062
AA Change: M57K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.1e-50	PFAM
Pfam:7tm_1	39	285	6.7e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216383
AA Change: M57K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (67/68)

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
Acbd6	T	A	1: 155,562,758 (GRCm39)	L253H	probably damaging	Het
Adam11	T	C	11: 102,663,303 (GRCm39)	V238A	probably benign	Het
Amer3	A	T	1: 34,628,083 (GRCm39)	H774L	possibly damaging	Het
Anapc15	T	C	7: 101,550,236 (GRCm39)	L150P	unknown	Het
Ano8	G	T	8: 71,935,784 (GRCm39)	T278K	possibly damaging	Het
Atg16l2	T	C	7: 100,939,074 (GRCm39)	K618E	probably damaging	Het
Casz1	C	T	4: 149,028,981 (GRCm39)	S1142L	probably damaging	Het
Ccdc30	T	A	4: 119,190,813 (GRCm39)	E471D	probably damaging	Het
Cks1b	T	C	3: 89,323,635 (GRCm39)	N45D	probably benign	Het
Clasrp	T	C	7: 19,321,769 (GRCm39)	T296A	probably damaging	Het
Cluap1	C	T	16: 3,727,467 (GRCm39)		probably null	Het
Cntn5	T	A	9: 9,704,903 (GRCm39)	D632V	probably damaging	Het
Cntnap3	G	A	13: 64,920,591 (GRCm39)	Q593*	probably null	Het
Col18a1	A	T	10: 76,913,846 (GRCm39)	I457K	probably benign	Het
Crybb3	G	T	5: 113,223,834 (GRCm39)	Q192K	probably damaging	Het
Cyb561d2	C	T	9: 107,417,383 (GRCm39)	A123T	probably benign	Het
Cyp2b13	C	T	7: 25,795,095 (GRCm39)	A442V	probably damaging	Het
Cyp2j9	G	A	4: 96,457,079 (GRCm39)	T464I	probably benign	Het
Cyp4a29	G	A	4: 115,108,137 (GRCm39)	G320R	possibly damaging	Het
Dbp	T	C	7: 45,359,174 (GRCm39)	I283T	probably damaging	Het
Efcab3	T	C	11: 105,002,674 (GRCm39)	I303T	probably benign	Het
Efcab8	T	A	2: 153,629,665 (GRCm39)	V166D		Het
Efhc1	A	T	1: 21,049,744 (GRCm39)	I535F	probably benign	Het
Epb41l3	A	G	17: 69,560,409 (GRCm39)	I319V	possibly damaging	Het
Ewsr1	T	C	11: 5,035,900 (GRCm39)	T193A	unknown	Het
Fam227a	T	C	15: 79,504,913 (GRCm39)	N510S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,841 (GRCm39)	C1221R	possibly damaging	Het
Gm6741	A	C	17: 91,544,472 (GRCm39)	E78D	probably benign	Het
Gpam	C	T	19: 55,070,102 (GRCm39)	V385I	probably damaging	Het
Gpr55	A	G	1: 85,869,059 (GRCm39)	V174A	probably benign	Het
Gsdmc	T	C	15: 63,650,813 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,441,080 (GRCm39)	D5509V	possibly damaging	Het
Hoxc13	A	T	15: 102,830,293 (GRCm39)	Q224L	possibly damaging	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Igsf3	G	A	3: 101,342,857 (GRCm39)	R478H	probably damaging	Het
Itgb5	A	G	16: 33,740,486 (GRCm39)	Q532R	probably benign	Het
Jph1	T	C	1: 17,162,215 (GRCm39)	Y149C	probably damaging	Het
Lztfl1	T	C	9: 123,544,395 (GRCm39)	D33G	probably null	Het
Mex3c	G	T	18: 73,723,061 (GRCm39)	A385S	possibly damaging	Het
Myo5a	T	A	9: 75,051,366 (GRCm39)	S320T	probably benign	Het
Nsun4	A	T	4: 115,909,617 (GRCm39)	N314K	possibly damaging	Het
Omg	T	A	11: 79,393,059 (GRCm39)	E266D	probably benign	Het
Paqr9	T	A	9: 95,442,829 (GRCm39)	V273E	possibly damaging	Het
Phkg1	G	A	5: 129,902,699 (GRCm39)		probably benign	Het
Plekhm3	T	C	1: 64,960,901 (GRCm39)	K452E	probably benign	Het
Plpbp	T	A	8: 27,535,974 (GRCm39)	I86N		Het
Prl2c1	G	T	13: 28,035,780 (GRCm39)	A51S	probably damaging	Het
Prmt8	A	T	6: 127,706,466 (GRCm39)	H108Q	probably damaging	Het
Prrc2b	T	A	2: 32,107,280 (GRCm39)	C1614*	probably null	Het
Ptpdc1	A	G	13: 48,739,766 (GRCm39)	V555A	probably benign	Het
Rassf9	A	G	10: 102,381,461 (GRCm39)	D281G	probably benign	Het
Resf1	T	C	6: 149,228,853 (GRCm39)	I633T	probably benign	Het
Rmnd1	T	C	10: 4,377,496 (GRCm39)	D61G	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,745,229 (GRCm39)	S2055P	possibly damaging	Het
Six5	G	A	7: 18,830,803 (GRCm39)	A477T	probably damaging	Het
Speg	A	G	1: 75,352,469 (GRCm39)	E129G	probably damaging	Het
Stard10	C	T	7: 100,995,320 (GRCm39)	A78V	not run	Het
Stard3	T	C	11: 98,266,502 (GRCm39)	V127A	probably benign	Het
Svep1	G	A	4: 58,068,523 (GRCm39)	P3088S	probably damaging	Het
Tbck	A	G	3: 132,440,489 (GRCm39)	D508G	probably damaging	Het
Tgm2	T	A	2: 157,985,038 (GRCm39)	T23S	probably damaging	Het
Ttll10	G	T	4: 156,131,665 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,852,738 (GRCm39)	S741T	probably damaging	Het
Vmn2r13	T	C	5: 109,319,618 (GRCm39)	N454S	probably benign	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Wnt8a	T	C	18: 34,680,588 (GRCm39)	W318R	probably damaging	Het
Zer1	A	T	2: 30,001,243 (GRCm39)	L87H	probably damaging	Het
Zfp518a	T	A	19: 40,901,212 (GRCm39)	N380K	probably benign	Het
Zfp90	T	C	8: 107,145,725 (GRCm39)	V19A	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het

Other mutations in Or4b12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02386:Or4b12	APN	2	90,096,295 (GRCm39)	missense	probably damaging	0.97
IGL02901:Or4b12	APN	2	90,096,052 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Or4b12	UTSW	2	90,096,639 (GRCm39)	missense	probably damaging	0.97
PIT4468001:Or4b12	UTSW	2	90,096,564 (GRCm39)	missense	probably benign	0.00
R0325:Or4b12	UTSW	2	90,095,880 (GRCm39)	missense	probably null
R1350:Or4b12	UTSW	2	90,096,690 (GRCm39)	missense	probably damaging	0.97
R1888:Or4b12	UTSW	2	90,095,913 (GRCm39)	missense	probably damaging	1.00
R1888:Or4b12	UTSW	2	90,095,913 (GRCm39)	missense	probably damaging	1.00
R2509:Or4b12	UTSW	2	90,096,030 (GRCm39)	missense	possibly damaging	0.91
R2510:Or4b12	UTSW	2	90,095,950 (GRCm39)	missense	probably damaging	0.98
R4113:Or4b12	UTSW	2	90,096,684 (GRCm39)	missense	probably damaging	1.00
R5414:Or4b12	UTSW	2	90,096,046 (GRCm39)	missense	probably benign	0.07
R5580:Or4b12	UTSW	2	90,096,694 (GRCm39)	missense	probably benign	0.00
R5664:Or4b12	UTSW	2	90,095,959 (GRCm39)	missense	probably damaging	0.96
R5666:Or4b12	UTSW	2	90,096,308 (GRCm39)	missense	probably benign	0.04
R5670:Or4b12	UTSW	2	90,096,308 (GRCm39)	missense	probably benign	0.04
R5881:Or4b12	UTSW	2	90,096,786 (GRCm39)	splice site	probably null
R6493:Or4b12	UTSW	2	90,096,052 (GRCm39)	missense	probably damaging	1.00
R7688:Or4b12	UTSW	2	90,095,959 (GRCm39)	missense	probably damaging	0.96
R8041:Or4b12	UTSW	2	90,096,488 (GRCm39)	nonsense	probably null
R8220:Or4b12	UTSW	2	90,096,387 (GRCm39)	missense	probably benign	0.01
R8494:Or4b12	UTSW	2	90,095,880 (GRCm39)	missense	probably null
R8736:Or4b12	UTSW	2	90,095,922 (GRCm39)	missense	possibly damaging	0.52
R8861:Or4b12	UTSW	2	90,096,803 (GRCm39)	start gained	probably benign
R9130:Or4b12	UTSW	2	90,096,358 (GRCm39)	missense	probably damaging	1.00
R9514:Or4b12	UTSW	2	90,096,709 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGGTTTGCAGATGGCCAC -3'
(R):5'- ACATGTGAGCTGACCCAATG -3'

Sequencing Primer
(F):5'- TTTGCAGATGGCCACATAGC -3'
(R):5'- TGGTCCATGAAAATAACGTAACTGAG -3'

Posted On

2019-11-12