Incidental Mutation 'R9285:Or4s2b'
| ID |
703848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4s2b
|
| Ensembl Gene |
ENSMUSG00000060827 |
| Gene Name |
olfactory receptor family 4 subfamily S member 2B |
| Synonyms |
MOR230-9, Olfr1194-ps1, MOR226-1, GA_x6K02T2Q125-50158288-50158818, Olfr1193, GA_x6K02T2Q125-50154044-50154826 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R9285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
88508201-88509157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88508680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 153
(H153Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081697]
[ENSMUST00000099818]
[ENSMUST00000213545]
[ENSMUST00000213893]
[ENSMUST00000216767]
|
| AlphaFold |
A2AV13 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081697
AA Change: H160Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080399
Gene: ENSMUSG00000060827
AA Change: H160Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
36 |
310 |
7.5e-51 |
PFAM |
|
Pfam:7tm_1
|
46 |
292 |
7.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099818
|
| SMART Domains |
Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.5e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
32 |
300 |
1.6e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
5.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213545
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213893
AA Change: H153Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216767
AA Change: H153Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,526,756 (GRCm39) |
T1085K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,654,989 (GRCm39) |
I1000F |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,465,141 (GRCm39) |
M308V |
probably benign |
Het |
| Chd3 |
G |
T |
11: 69,249,954 (GRCm39) |
R736S |
possibly damaging |
Het |
| Chst9 |
T |
A |
18: 15,586,017 (GRCm39) |
H182L |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,452,746 (GRCm39) |
F2112S |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,956,088 (GRCm39) |
L3373H |
probably damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,946,402 (GRCm39) |
D303V |
probably benign |
Het |
| Cyp7b1 |
T |
A |
3: 18,151,564 (GRCm39) |
K216N |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,833,012 (GRCm39) |
F1315V |
probably benign |
Het |
| Eme2 |
T |
C |
17: 25,108,132 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,925,568 (GRCm39) |
I222M |
probably damaging |
Het |
| Ggcx |
T |
A |
6: 72,395,402 (GRCm39) |
Y164* |
probably null |
Het |
| Gm20939 |
T |
C |
17: 95,184,188 (GRCm39) |
F279L |
probably damaging |
Het |
| Gm44511 |
T |
C |
6: 128,777,017 (GRCm39) |
|
probably benign |
Het |
| Gprin1 |
A |
G |
13: 54,886,523 (GRCm39) |
S584P |
probably damaging |
Het |
| Ighv2-2 |
A |
T |
12: 113,551,903 (GRCm39) |
Y112N |
probably damaging |
Het |
| Kansl3 |
T |
C |
1: 36,383,148 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,381,611 (GRCm39) |
I449K |
probably damaging |
Het |
| Lima1 |
T |
C |
15: 99,678,687 (GRCm39) |
R585G |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,662,686 (GRCm39) |
V1905E |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,972,870 (GRCm39) |
V343E |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,985,170 (GRCm39) |
F279S |
|
Het |
| Mgat3 |
A |
G |
15: 80,096,538 (GRCm39) |
D455G |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,434,753 (GRCm39) |
Q2230L |
probably damaging |
Het |
| Myog |
T |
C |
1: 134,218,895 (GRCm39) |
F179S |
possibly damaging |
Het |
| Nlrc5 |
A |
C |
8: 95,199,604 (GRCm39) |
I72L |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,472,715 (GRCm39) |
T246A |
probably benign |
Het |
| Or4k2 |
A |
C |
14: 50,424,122 (GRCm39) |
V185G |
probably benign |
Het |
| Or5k15 |
T |
A |
16: 58,710,569 (GRCm39) |
K5* |
probably null |
Het |
| Or5p5 |
C |
T |
7: 107,413,821 (GRCm39) |
T10I |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,707,786 (GRCm39) |
L895P |
probably damaging |
Het |
| Pibf1 |
C |
T |
14: 99,480,345 (GRCm39) |
T707M |
probably benign |
Het |
| Ptk2b |
A |
T |
14: 66,410,844 (GRCm39) |
Y418N |
possibly damaging |
Het |
| Ptx4 |
T |
G |
17: 25,343,930 (GRCm39) |
Y393* |
probably null |
Het |
| Sass6 |
C |
A |
3: 116,422,354 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Spatc1l |
T |
C |
10: 76,398,264 (GRCm39) |
V22A |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,195,279 (GRCm39) |
E1668G |
probably damaging |
Het |
| Sulf2 |
T |
A |
2: 165,935,435 (GRCm39) |
H226L |
probably damaging |
Het |
| Sun5 |
T |
C |
2: 153,709,426 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,809 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
C |
A |
10: 78,588,234 (GRCm39) |
|
probably benign |
Het |
| Xylt2 |
A |
T |
11: 94,558,536 (GRCm39) |
I540N |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,723 (GRCm39) |
N780S |
probably benign |
Het |
| Zfp983 |
T |
A |
17: 21,876,520 (GRCm39) |
M8K |
possibly damaging |
Het |
|
| Other mutations in Or4s2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01939:Or4s2b
|
APN |
2 |
88,509,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Or4s2b
|
UTSW |
2 |
88,509,011 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0711:Or4s2b
|
UTSW |
2 |
88,509,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Or4s2b
|
UTSW |
2 |
88,508,219 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1610:Or4s2b
|
UTSW |
2 |
88,508,918 (GRCm39) |
nonsense |
probably null |
|
|
R4380:Or4s2b
|
UTSW |
2 |
88,508,615 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4602:Or4s2b
|
UTSW |
2 |
88,508,523 (GRCm39) |
missense |
probably benign |
|
|
R4602:Or4s2b
|
UTSW |
2 |
88,508,240 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4610:Or4s2b
|
UTSW |
2 |
88,508,523 (GRCm39) |
missense |
probably benign |
|
|
R4610:Or4s2b
|
UTSW |
2 |
88,508,240 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4790:Or4s2b
|
UTSW |
2 |
88,508,731 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4803:Or4s2b
|
UTSW |
2 |
88,508,366 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5402:Or4s2b
|
UTSW |
2 |
88,508,492 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5736:Or4s2b
|
UTSW |
2 |
88,508,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6896:Or4s2b
|
UTSW |
2 |
88,508,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Or4s2b
|
UTSW |
2 |
88,508,852 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7038:Or4s2b
|
UTSW |
2 |
88,509,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Or4s2b
|
UTSW |
2 |
88,508,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0022:Or4s2b
|
UTSW |
2 |
88,508,664 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1088:Or4s2b
|
UTSW |
2 |
88,509,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGTGCATGTTACAACTC -3'
(R):5'- ACTGCTTTCTCAGAGACATGAG -3'
Sequencing Primer
(F):5'- GCATGTTACAACTCTTTGTGGTTC -3'
(R):5'- GCTTTCTCAGAGACATGAGAATGAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation