Incidental Mutation 'R5721:Or13d1'
| ID |
451433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13d1
|
| Ensembl Gene |
ENSMUSG00000070983 |
| Gene Name |
olfactory receptor family 13 subfamily D member 1 |
| Synonyms |
GA_x6K02T2N78B-7025964-7025020, Olfr270, MOR262-9 |
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
52970629-52971567 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 52971068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 149
(W149L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095084]
[ENSMUST00000172257]
[ENSMUST00000215010]
[ENSMUST00000215127]
|
| AlphaFold |
Q7TS19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095084
AA Change: W149L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092699
Gene: ENSMUSG00000070983
AA Change: W149L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
308 |
7.8e-54 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172257
AA Change: W147L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133100
Gene: ENSMUSG00000070983
AA Change: W147L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
288 |
7.3e-34 |
PFAM |
|
Pfam:7tm_4
|
137 |
281 |
1.3e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215010
AA Change: W149L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215127
AA Change: W149L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
probably damaging |
Het |
|
| Other mutations in Or13d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Or13d1
|
APN |
4 |
52,971,058 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01888:Or13d1
|
APN |
4 |
52,970,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02160:Or13d1
|
APN |
4 |
52,971,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02390:Or13d1
|
APN |
4 |
52,971,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Or13d1
|
UTSW |
4 |
52,971,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4967:Or13d1
|
UTSW |
4 |
52,970,960 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7089:Or13d1
|
UTSW |
4 |
52,971,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Or13d1
|
UTSW |
4 |
52,970,665 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7448:Or13d1
|
UTSW |
4 |
52,971,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7772:Or13d1
|
UTSW |
4 |
52,970,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8058:Or13d1
|
UTSW |
4 |
52,971,106 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8150:Or13d1
|
UTSW |
4 |
52,970,788 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8318:Or13d1
|
UTSW |
4 |
52,971,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8798:Or13d1
|
UTSW |
4 |
52,970,790 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9157:Or13d1
|
UTSW |
4 |
52,971,419 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
X0027:Or13d1
|
UTSW |
4 |
52,971,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACATCTGTTACACATCCTCATC -3'
(R):5'- ACAATACTGGCCACTGTCATG -3'
Sequencing Primer
(F):5'- CTCATCATGTTTATGTCAGCGAG -3'
(R):5'- TGGCCACTGTCATGATAAGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation