Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Or5b21'

224403

Institutional Source

Beutler Lab

Gene Symbol

Or5b21

Ensembl Gene

ENSMUSG00000046272

Gene Name

olfactory receptor family 5 subfamily B member 21

Synonyms

Olfr1444, GA_x6K02T2RE5P-3191201-3192160, MOR202-4

MMRRC Submission

040041-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12839141-12840100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12839151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 4 (M4K)

Ref Sequence

ENSEMBL: ENSMUSP00000150212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059675] [ENSMUST00000213606]

AlphaFold

Q8VFX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059675
AA Change: M4K

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062460
Gene: ENSMUSG00000046272
AA Change: M4K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	1.6e-54	PFAM
Pfam:7tm_1	42	291	5.3e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213606
AA Change: M4K

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.8164

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,385 (GRCm39)	I65V	probably benign	Het
Abca13	A	G	11: 9,242,628 (GRCm39)	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,726,061 (GRCm39)	N184K	probably benign	Het
Ampd2	A	T	3: 107,984,679 (GRCm39)	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,490,378 (GRCm39)	D1018G	possibly damaging	Het
Ano9	T	A	7: 140,688,048 (GRCm39)	I223F	probably damaging	Het
B3gnt6	A	G	7: 97,843,225 (GRCm39)	L245P	possibly damaging	Het
Bag6	G	A	17: 35,363,668 (GRCm39)	R784Q	probably damaging	Het
Brca1	C	G	11: 101,380,675 (GRCm39)	S1786T	probably benign	Het
Btbd3	T	G	2: 138,120,903 (GRCm39)	S26A	probably benign	Het
Cacna1d	C	A	14: 29,811,820 (GRCm39)	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491 (GRCm39)	T6I	probably damaging	Het
Col7a1	T	C	9: 108,792,075 (GRCm39)	V1262A	unknown	Het
Crh	C	A	3: 19,748,262 (GRCm39)	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,770,882 (GRCm39)	L64*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddc	T	A	11: 11,830,456 (GRCm39)	I63L	probably benign	Het
Eif3a	C	T	19: 60,750,568 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gm5420	A	G	10: 21,567,512 (GRCm39)		noncoding transcript	Het
Grb14	A	G	2: 64,753,873 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,475,593 (GRCm39)	I545F	probably damaging	Het
Hectd1	A	T	12: 51,803,899 (GRCm39)		probably null	Het
Helz2	G	A	2: 180,874,371 (GRCm39)	P2041L	probably damaging	Het
Herc1	G	A	9: 66,349,254 (GRCm39)	A2038T	probably benign	Het
Il10	C	A	1: 130,951,922 (GRCm39)	Q152K	probably benign	Het
Klrg1	A	G	6: 122,256,596 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,401,408 (GRCm39)	T160A	probably benign	Het
Mmd2	A	T	5: 142,560,939 (GRCm39)		probably null	Het
Mmp2	C	T	8: 93,563,540 (GRCm39)	S338F	probably damaging	Het
Nalcn	T	G	14: 123,521,015 (GRCm39)	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,235,207 (GRCm39)	S909G	probably benign	Het
Neb	A	T	2: 52,170,623 (GRCm39)	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,435,350 (GRCm39)	I637V	possibly damaging	Het
Npw	G	A	17: 24,877,242 (GRCm39)	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,111,343 (GRCm39)		probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nup188	T	A	2: 30,200,097 (GRCm39)		probably benign	Het
Or4k15c	T	C	14: 50,321,440 (GRCm39)	M233V	probably benign	Het
Parp4	A	T	14: 56,871,720 (GRCm39)	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,555,546 (GRCm39)	V292A	probably benign	Het
Pcnx2	A	G	8: 126,545,406 (GRCm39)		probably null	Het
Phf2	A	G	13: 48,971,206 (GRCm39)	S489P	unknown	Het
Pik3r5	T	A	11: 68,384,403 (GRCm39)	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,261,516 (GRCm39)	E432D	probably damaging	Het
Pink1	T	C	4: 138,045,343 (GRCm39)	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,270,893 (GRCm39)	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,462,902 (GRCm39)	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,015,124 (GRCm39)	V492A	possibly damaging	Het
Prp2	G	T	6: 132,572,947 (GRCm39)		probably null	Het
Rabl6	T	C	2: 25,475,444 (GRCm39)	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605 (GRCm39)		probably null	Het
Rps6kb2	T	C	19: 4,211,106 (GRCm39)	T140A	probably damaging	Het
S100a11	T	C	3: 93,433,429 (GRCm39)	I91T	probably benign	Het
Serpine2	A	G	1: 79,774,569 (GRCm39)	L230P	probably damaging	Het
Sh3tc2	A	G	18: 62,120,737 (GRCm39)	D370G	probably damaging	Het
Sim2	A	C	16: 93,886,801 (GRCm39)	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,226,798 (GRCm39)	L419P	probably damaging	Het
Srgap1	C	T	10: 121,628,651 (GRCm39)	E817K	probably damaging	Het
Stag3	A	G	5: 138,296,263 (GRCm39)	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,890,645 (GRCm39)	N361S	probably damaging	Het
Tmco6	A	G	18: 36,870,909 (GRCm39)		probably null	Het
Tmem104	T	A	11: 115,134,373 (GRCm39)	I303N	probably benign	Het
Ttll6	G	T	11: 96,026,352 (GRCm39)	D86Y	probably damaging	Het
Tut4	C	T	4: 108,369,392 (GRCm39)	R651W	probably damaging	Het
Vmn1r120	T	G	7: 20,786,883 (GRCm39)	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,886,988 (GRCm39)	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,262,242 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,381,868 (GRCm39)	K568*	probably null	Het

Other mutations in Or5b21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Or5b21	APN	19	12,839,231 (GRCm39)	missense	probably benign	0.00
IGL01963:Or5b21	APN	19	12,839,746 (GRCm39)	missense	probably benign	0.00
IGL02030:Or5b21	APN	19	12,839,799 (GRCm39)	missense	probably benign	0.00
IGL02178:Or5b21	APN	19	12,839,907 (GRCm39)	missense	possibly damaging	0.49
IGL02641:Or5b21	APN	19	12,839,566 (GRCm39)	nonsense	probably null
R0311:Or5b21	UTSW	19	12,839,233 (GRCm39)	missense	probably benign	0.01
R0543:Or5b21	UTSW	19	12,839,252 (GRCm39)	missense	probably benign	0.00
R0815:Or5b21	UTSW	19	12,840,008 (GRCm39)	missense	probably benign	0.00
R2078:Or5b21	UTSW	19	12,839,751 (GRCm39)	missense	probably benign	0.05
R2431:Or5b21	UTSW	19	12,839,970 (GRCm39)	missense	probably damaging	1.00
R3032:Or5b21	UTSW	19	12,839,282 (GRCm39)	missense	probably benign	0.00
R3932:Or5b21	UTSW	19	12,839,994 (GRCm39)	missense	possibly damaging	0.95
R4498:Or5b21	UTSW	19	12,840,033 (GRCm39)	missense	probably damaging	1.00
R4654:Or5b21	UTSW	19	12,839,596 (GRCm39)	nonsense	probably null
R4708:Or5b21	UTSW	19	12,839,261 (GRCm39)	missense	probably benign	0.00
R4823:Or5b21	UTSW	19	12,839,180 (GRCm39)	missense	probably benign	0.04
R4938:Or5b21	UTSW	19	12,839,916 (GRCm39)	missense	probably damaging	1.00
R4980:Or5b21	UTSW	19	12,839,384 (GRCm39)	missense	probably benign
R5580:Or5b21	UTSW	19	12,839,168 (GRCm39)	missense	possibly damaging	0.59
R5622:Or5b21	UTSW	19	12,839,663 (GRCm39)	missense	probably benign	0.08
R5671:Or5b21	UTSW	19	12,839,171 (GRCm39)	missense	probably benign	0.02
R6149:Or5b21	UTSW	19	12,839,723 (GRCm39)	missense	probably benign	0.02
R6683:Or5b21	UTSW	19	12,840,014 (GRCm39)	missense	probably damaging	0.98
R7389:Or5b21	UTSW	19	12,839,981 (GRCm39)	missense	probably benign	0.04
R7392:Or5b21	UTSW	19	12,839,951 (GRCm39)	missense	probably benign	0.18
R7461:Or5b21	UTSW	19	12,839,141 (GRCm39)	start codon destroyed	probably benign	0.00
R7613:Or5b21	UTSW	19	12,839,141 (GRCm39)	start codon destroyed	probably benign	0.00
R7698:Or5b21	UTSW	19	12,840,077 (GRCm39)	missense	possibly damaging	0.69
R7717:Or5b21	UTSW	19	12,839,159 (GRCm39)	missense	probably benign	0.07
R7892:Or5b21	UTSW	19	12,839,843 (GRCm39)	nonsense	probably null
R9151:Or5b21	UTSW	19	12,839,976 (GRCm39)	missense	probably damaging	1.00
R9656:Or5b21	UTSW	19	12,839,247 (GRCm39)	missense	probably damaging	1.00
Z1088:Or5b21	UTSW	19	12,839,648 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCACATCCAGTTTGAACTCAG -3'
(R):5'- TCCCAGATCTACAAAGGACAGG -3'

Sequencing Primer
(F):5'- TGACTTTGACCTTTATTAAGCTGTC -3'
(R):5'- GGTTACTGAGGAAAAAGTACATGG -3'

Posted On

2014-08-25