Incidental Mutation 'R5245:Or4b1d'
| ID |
401091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4b1d
|
| Ensembl Gene |
ENSMUSG00000075066 |
| Gene Name |
olfactory receptor family 4 subfamily B member 1D |
| Synonyms |
Olfr32, MOR227-9_p, MOR227-7P, MTPCR05, GA_x6K02T2Q125-51573576-51572650 |
| MMRRC Submission |
042816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89966617-89972640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89968606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 292
(K292N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099755]
[ENSMUST00000213293]
[ENSMUST00000214973]
[ENSMUST00000215153]
[ENSMUST00000215659]
[ENSMUST00000215765]
|
| AlphaFold |
Q7TQZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099755
AA Change: K292N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: K292N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
302 |
1.7e-52 |
PFAM |
|
Pfam:7tm_1
|
38 |
284 |
6.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214973
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215153
AA Change: K292N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215659
AA Change: K292N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215765
AA Change: K292N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (51/51) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
T |
A |
19: 21,661,624 (GRCm39) |
Y270* |
probably null |
Het |
| Akap9 |
A |
T |
5: 4,026,209 (GRCm39) |
Q59L |
probably damaging |
Het |
| Aloxe3 |
A |
T |
11: 69,020,502 (GRCm39) |
Q182L |
probably benign |
Het |
| Arhgef5 |
G |
T |
6: 43,242,614 (GRCm39) |
|
probably benign |
Het |
| Bcas3 |
T |
A |
11: 85,449,912 (GRCm39) |
N663K |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,921,770 (GRCm39) |
H51R |
possibly damaging |
Het |
| Cntfr |
A |
T |
4: 41,670,879 (GRCm39) |
W95R |
possibly damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,714,657 (GRCm39) |
T275A |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,473,873 (GRCm39) |
R227G |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,513,304 (GRCm39) |
W160* |
probably null |
Het |
| Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,823,505 (GRCm39) |
M6413V |
probably benign |
Het |
| Gm14401 |
C |
T |
2: 176,778,471 (GRCm39) |
P186S |
probably damaging |
Het |
| Hrc |
G |
A |
7: 44,984,855 (GRCm39) |
G2D |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,903,284 (GRCm39) |
V142A |
possibly damaging |
Het |
| Lama3 |
G |
A |
18: 12,552,950 (GRCm39) |
C454Y |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,680,292 (GRCm39) |
T2068A |
probably damaging |
Het |
| Mab21l2 |
T |
C |
3: 86,454,799 (GRCm39) |
E67G |
possibly damaging |
Het |
| Map3k5 |
G |
A |
10: 20,016,437 (GRCm39) |
V1343I |
probably benign |
Het |
| Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
| Mmp16 |
A |
G |
4: 18,054,596 (GRCm39) |
|
probably benign |
Het |
| Nat3 |
C |
T |
8: 68,000,832 (GRCm39) |
T237I |
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,828,179 (GRCm39) |
*484R |
probably null |
Het |
| Nsmf |
A |
G |
2: 24,946,119 (GRCm39) |
E202G |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,496,443 (GRCm39) |
V358A |
probably benign |
Het |
| Or2v2 |
T |
A |
11: 49,004,116 (GRCm39) |
I146F |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,891,910 (GRCm39) |
E466G |
probably damaging |
Het |
| Pim3 |
A |
G |
15: 88,747,404 (GRCm39) |
E90G |
possibly damaging |
Het |
| Recql5 |
T |
C |
11: 115,784,385 (GRCm39) |
E905G |
probably damaging |
Het |
| Rnf31 |
T |
G |
14: 55,839,163 (GRCm39) |
L925R |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,589,511 (GRCm39) |
V679A |
probably damaging |
Het |
| Setdb2 |
T |
A |
14: 59,663,943 (GRCm39) |
E68V |
probably null |
Het |
| Shtn1 |
T |
A |
19: 59,020,652 (GRCm39) |
N190I |
possibly damaging |
Het |
| Slc25a25 |
G |
A |
2: 32,311,340 (GRCm39) |
Q14* |
probably null |
Het |
| Snrnp27 |
A |
G |
6: 86,659,941 (GRCm39) |
S18P |
unknown |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
T |
C |
5: 120,021,230 (GRCm39) |
V412A |
possibly damaging |
Het |
| Tcea3 |
A |
G |
4: 135,991,813 (GRCm39) |
T166A |
probably benign |
Het |
| Tdrp |
A |
T |
8: 14,024,479 (GRCm39) |
|
probably benign |
Het |
| Tent5a |
G |
T |
9: 85,208,401 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Tmem132e |
T |
C |
11: 82,333,464 (GRCm39) |
V624A |
probably damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,066 (GRCm39) |
D72G |
probably damaging |
Het |
| Trim80 |
C |
A |
11: 115,332,398 (GRCm39) |
H197N |
probably damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,156 (GRCm39) |
C195* |
probably null |
Het |
| Zfp335 |
A |
G |
2: 164,736,678 (GRCm39) |
S986P |
probably benign |
Het |
|
| Other mutations in Or4b1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01328:Or4b1d
|
APN |
2 |
89,969,418 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01976:Or4b1d
|
APN |
2 |
89,969,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02076:Or4b1d
|
APN |
2 |
89,969,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Or4b1d
|
APN |
2 |
89,969,006 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03235:Or4b1d
|
APN |
2 |
89,969,414 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03410:Or4b1d
|
APN |
2 |
89,969,489 (GRCm39) |
start gained |
probably benign |
|
|
R1240:Or4b1d
|
UTSW |
2 |
89,969,157 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1511:Or4b1d
|
UTSW |
2 |
89,968,748 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1602:Or4b1d
|
UTSW |
2 |
89,969,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Or4b1d
|
UTSW |
2 |
89,968,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2023:Or4b1d
|
UTSW |
2 |
89,969,200 (GRCm39) |
nonsense |
probably null |
|
|
R2177:Or4b1d
|
UTSW |
2 |
89,968,808 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2679:Or4b1d
|
UTSW |
2 |
89,968,889 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4490:Or4b1d
|
UTSW |
2 |
89,969,261 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4585:Or4b1d
|
UTSW |
2 |
89,968,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4586:Or4b1d
|
UTSW |
2 |
89,968,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4649:Or4b1d
|
UTSW |
2 |
89,969,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4688:Or4b1d
|
UTSW |
2 |
89,969,343 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4694:Or4b1d
|
UTSW |
2 |
89,968,593 (GRCm39) |
nonsense |
probably null |
|
|
R5509:Or4b1d
|
UTSW |
2 |
89,969,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5991:Or4b1d
|
UTSW |
2 |
89,968,578 (GRCm39) |
nonsense |
probably null |
|
|
R6004:Or4b1d
|
UTSW |
2 |
89,969,343 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6128:Or4b1d
|
UTSW |
2 |
89,968,954 (GRCm39) |
nonsense |
probably null |
|
|
R6519:Or4b1d
|
UTSW |
2 |
89,969,156 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7472:Or4b1d
|
UTSW |
2 |
89,968,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7892:Or4b1d
|
UTSW |
2 |
89,968,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8017:Or4b1d
|
UTSW |
2 |
89,969,170 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8046:Or4b1d
|
UTSW |
2 |
89,969,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8464:Or4b1d
|
UTSW |
2 |
89,968,947 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8712:Or4b1d
|
UTSW |
2 |
89,969,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Or4b1d
|
UTSW |
2 |
89,969,472 (GRCm39) |
missense |
probably benign |
|
|
R9789:Or4b1d
|
UTSW |
2 |
89,969,004 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0066:Or4b1d
|
UTSW |
2 |
89,968,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACACATTAGAGAAGTTCTATTCC -3'
(R):5'- ACGCAAGGCTTTATCTACCTG -3'
Sequencing Primer
(F):5'- CTGATACCTATGACATGATGGAATTC -3'
(R):5'- GTGCCTCTCACATCATGGTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation