Incidental Mutation 'R6596:Or4b1'
| ID |
525952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4b1
|
| Ensembl Gene |
ENSMUSG00000075065 |
| Gene Name |
olfactory receptor family 4 subfamily B member 1 |
| Synonyms |
Olfr1270, GA_x6K02T2Q125-51584440-51583526, MOR227-1 |
| MMRRC Submission |
044720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6596 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
89979363-89980380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89979622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 243
(T243S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099754]
[ENSMUST00000213946]
[ENSMUST00000215578]
[ENSMUST00000215975]
[ENSMUST00000216354]
[ENSMUST00000217139]
|
| AlphaFold |
Q8VGP3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099754
AA Change: T243S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097343
Gene: ENSMUSG00000075065
AA Change: T243S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.3e-54 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
300 |
7.5e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
2e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165784
|
| SMART Domains |
Protein: ENSMUSP00000126140
Gene: ENSMUSG00000091703
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
19 |
81 |
1.29e-3 |
SMART |
|
low complexity region
|
118 |
128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213946
AA Change: T243S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215578
AA Change: T243S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215975
AA Change: T243S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216354
AA Change: T243S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217139
AA Change: T243S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
A |
9: 101,819,984 (GRCm39) |
C135S |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Cldn15 |
T |
A |
5: 137,003,533 (GRCm39) |
C178* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,783,409 (GRCm39) |
|
probably benign |
Het |
| Crnn |
G |
A |
3: 93,054,182 (GRCm39) |
E22K |
probably damaging |
Het |
| Dcstamp |
A |
C |
15: 39,617,605 (GRCm39) |
T5P |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,759,702 (GRCm39) |
Y269C |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,403,581 (GRCm39) |
|
probably null |
Het |
| Duox2 |
C |
T |
2: 122,115,819 (GRCm39) |
V972I |
probably benign |
Het |
| Eif1ad15 |
C |
A |
12: 88,288,057 (GRCm39) |
L65F |
possibly damaging |
Het |
| Ephb1 |
A |
C |
9: 102,072,001 (GRCm39) |
Y259* |
probably null |
Het |
| Fam149a |
G |
T |
8: 45,834,667 (GRCm39) |
T44K |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,648,641 (GRCm39) |
Y1423H |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gfm2 |
C |
T |
13: 97,301,657 (GRCm39) |
P487S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,052 (GRCm39) |
E625G |
probably benign |
Het |
| Kmt5a |
G |
A |
5: 124,588,759 (GRCm39) |
V121M |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,201,001 (GRCm39) |
S229P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,478,011 (GRCm39) |
D7098G |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,801,283 (GRCm39) |
I244N |
probably damaging |
Het |
| Obox1 |
C |
T |
7: 15,289,301 (GRCm39) |
S72L |
probably damaging |
Het |
| Or5d38 |
C |
T |
2: 87,954,543 (GRCm39) |
C262Y |
probably damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,414 (GRCm39) |
I517F |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,534,296 (GRCm39) |
A292V |
probably benign |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,894,847 (GRCm39) |
N1089I |
possibly damaging |
Het |
| Robo2 |
T |
A |
16: 73,767,996 (GRCm39) |
N603Y |
probably damaging |
Het |
| Slc35f4 |
G |
A |
14: 49,763,057 (GRCm39) |
A5V |
probably damaging |
Het |
| Smc4 |
A |
T |
3: 68,933,226 (GRCm39) |
I616F |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,912,899 (GRCm39) |
N1361H |
possibly damaging |
Het |
| Syngr1 |
C |
T |
15: 79,995,893 (GRCm39) |
T144M |
probably damaging |
Het |
| Tbc1d16 |
A |
C |
11: 119,048,601 (GRCm39) |
W351G |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,259,508 (GRCm39) |
S460G |
probably benign |
Het |
| Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
| Tpte |
T |
C |
8: 22,823,285 (GRCm39) |
L304P |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,456,382 (GRCm39) |
F325I |
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,131,140 (GRCm39) |
I198F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,930,274 (GRCm39) |
V413A |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,907,155 (GRCm39) |
M1T |
probably null |
Het |
|
| Other mutations in Or4b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02648:Or4b1
|
APN |
2 |
89,979,697 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03034:Or4b1
|
APN |
2 |
89,980,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Or4b1
|
UTSW |
2 |
89,979,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Or4b1
|
UTSW |
2 |
89,979,068 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1965:Or4b1
|
UTSW |
2 |
89,979,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1966:Or4b1
|
UTSW |
2 |
89,979,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2353:Or4b1
|
UTSW |
2 |
89,980,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3805:Or4b1
|
UTSW |
2 |
89,978,805 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4606:Or4b1
|
UTSW |
2 |
89,979,160 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4662:Or4b1
|
UTSW |
2 |
89,980,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Or4b1
|
UTSW |
2 |
89,979,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6957:Or4b1
|
UTSW |
2 |
89,979,494 (GRCm39) |
nonsense |
probably null |
|
|
R7408:Or4b1
|
UTSW |
2 |
89,980,188 (GRCm39) |
missense |
probably benign |
|
|
R7418:Or4b1
|
UTSW |
2 |
89,979,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Or4b1
|
UTSW |
2 |
89,979,763 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7935:Or4b1
|
UTSW |
2 |
89,979,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9006:Or4b1
|
UTSW |
2 |
89,980,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Or4b1
|
UTSW |
2 |
89,979,522 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9454:Or4b1
|
UTSW |
2 |
89,979,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9478:Or4b1
|
UTSW |
2 |
89,979,595 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCTGTCTATGGGAGAAGGTAC -3'
(R):5'- AAGCTGGCTTGCACTGATAC -3'
Sequencing Primer
(F):5'- ATAAAGTGTGCATTCATAGAGTCG -3'
(R):5'- AAGCTGGCTTGCACTGATACATTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation