Incidental Mutation 'R7389:Or5b21'
| ID |
573333 |
| 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 |
045471-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
R7389 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12839141-12840100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 12839981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 281
(V281L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059675]
[ENSMUST00000213606]
|
| AlphaFold |
Q8VFX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059675
AA Change: V281L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000062460
Gene: ENSMUSG00000046272
AA Change: V281L
| 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 |
probably benign
Transcript: ENSMUST00000213606
AA Change: V281L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa11 |
C |
A |
14: 25,873,312 (GRCm39) |
P182Q |
probably damaging |
Het |
| Asns |
C |
A |
6: 7,689,291 (GRCm39) |
L70F |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,017,529 (GRCm39) |
K445N |
probably benign |
Het |
| Cyp2c50 |
G |
T |
19: 40,079,107 (GRCm39) |
R150L |
probably benign |
Het |
| Dqx1 |
G |
T |
6: 83,041,775 (GRCm39) |
S539I |
probably null |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,593,347 (GRCm39) |
E247G |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,789,904 (GRCm39) |
Q801* |
probably null |
Het |
| Fabp2 |
G |
T |
3: 122,689,014 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,819,140 (GRCm39) |
V4958I |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Hdgfl2 |
T |
G |
17: 56,406,389 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
T |
C |
1: 135,894,785 (GRCm39) |
D1927G |
probably benign |
Het |
| Ino80 |
A |
C |
2: 119,273,010 (GRCm39) |
S489A |
probably benign |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,893,741 (GRCm39) |
T481A |
probably benign |
Het |
| Map2k3 |
A |
T |
11: 60,822,862 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,717,638 (GRCm39) |
T617A |
probably benign |
Het |
| Mybpc2 |
T |
G |
7: 44,155,028 (GRCm39) |
T960P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,257,049 (GRCm39) |
N150S |
possibly damaging |
Het |
| Nup153 |
A |
T |
13: 46,854,463 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 58,927,226 (GRCm39) |
L5498P |
probably benign |
Het |
| Or5v1b |
A |
G |
17: 37,841,548 (GRCm39) |
R227G |
possibly damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,389 (GRCm39) |
P181Q |
probably damaging |
Het |
| Pcdhgb4 |
T |
C |
18: 37,855,416 (GRCm39) |
Y604H |
probably damaging |
Het |
| Pja2 |
T |
A |
17: 64,604,722 (GRCm39) |
E487V |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,593,981 (GRCm39) |
R1331* |
probably null |
Het |
| Ppl |
T |
A |
16: 4,924,577 (GRCm39) |
|
probably null |
Het |
| Rhbdl3 |
T |
A |
11: 80,237,665 (GRCm39) |
M299K |
possibly damaging |
Het |
| Scart1 |
A |
G |
7: 139,808,704 (GRCm39) |
K872E |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,696,986 (GRCm39) |
*791W |
probably null |
Het |
| Slc7a2 |
A |
G |
8: 41,365,552 (GRCm39) |
Y461C |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,671,003 (GRCm39) |
Q447K |
probably damaging |
Het |
| Ssh1 |
A |
T |
5: 114,096,892 (GRCm39) |
I205N |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,869,196 (GRCm39) |
V1511I |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
| Tinf2 |
G |
T |
14: 55,918,167 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
A |
G |
4: 48,617,097 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
G |
T |
5: 34,671,145 (GRCm39) |
Q33K |
probably benign |
Het |
| Traf3 |
C |
A |
12: 111,204,187 (GRCm39) |
L59M |
probably damaging |
Het |
| Trav14d-3-dv8 |
T |
C |
14: 53,316,328 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Trim11 |
C |
T |
11: 58,881,481 (GRCm39) |
S458L |
probably damaging |
Het |
| Tspan18 |
A |
T |
2: 93,040,272 (GRCm39) |
V161E |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,038,304 (GRCm39) |
V928E |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,966,457 (GRCm39) |
V767I |
possibly damaging |
Het |
| Usp34 |
T |
G |
11: 23,295,200 (GRCm39) |
F287L |
|
Het |
| Vmn1r213 |
T |
C |
13: 23,196,556 (GRCm39) |
C380R |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,550,515 (GRCm39) |
|
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 |
|
R2034:Or5b21
|
UTSW |
19 |
12,839,151 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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'- TGCCTCAATCCATGCTGCAG -3'
(R):5'- TCAAAAGTTGCATTGCCCAG -3'
Sequencing Primer
(F):5'- GCACACACATCAGTAAATTGGTTGTC -3'
(R):5'- AGGAGGCGATCTATCCCTTAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation