Incidental Mutation 'R4557:Or1e29'
| ID |
341916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e29
|
| Ensembl Gene |
ENSMUSG00000070383 |
| Gene Name |
olfactory receptor family 1 subfamily E member 29 |
| Synonyms |
MOR135-6, GA_x6K02T2P1NL-3932085-3931147, Olfr389 |
| MMRRC Submission |
041784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4557 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73667213-73671415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73667307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 282
(T282I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122224]
[ENSMUST00000124927]
[ENSMUST00000215418]
|
| AlphaFold |
Q7TRX7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118611
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122224
AA Change: T282I
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113364
Gene: ENSMUSG00000070383
AA Change: T282I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.8e-56 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
4.2e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124927
AA Change: T282I
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115639
Gene: ENSMUSG00000070383
AA Change: T282I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
221 |
6.6e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
224 |
3.5e-29 |
PFAM |
|
Pfam:7tm_4
|
139 |
224 |
1.4e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215418
AA Change: T282I
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.3220 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Acad11 |
T |
C |
9: 103,960,038 (GRCm39) |
F219L |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,848,346 (GRCm39) |
Y659H |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Apba1 |
T |
A |
19: 23,894,956 (GRCm39) |
I464N |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,165,914 (GRCm39) |
T1057A |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,114,004 (GRCm39) |
E449G |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,463,384 (GRCm39) |
I1453L |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,175,080 (GRCm39) |
E531V |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,189,113 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
C |
A |
17: 70,823,684 (GRCm39) |
T223K |
probably benign |
Het |
| Exoc1 |
G |
A |
5: 76,709,290 (GRCm39) |
V24M |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Gm10100 |
G |
A |
10: 77,562,365 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,291 (GRCm39) |
V622A |
probably damaging |
Het |
| Gpr149 |
A |
C |
3: 62,511,918 (GRCm39) |
M27R |
probably benign |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,818 (GRCm39) |
N101D |
probably benign |
Het |
| Igkv4-78 |
A |
G |
6: 69,036,755 (GRCm39) |
S93P |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,505,313 (GRCm39) |
W3332R |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,141,028 (GRCm39) |
I459T |
probably benign |
Het |
| Mdn1 |
G |
T |
4: 32,754,437 (GRCm39) |
C4646F |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,182,993 (GRCm39) |
K351E |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,647 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
A |
17: 38,263,142 (GRCm39) |
A258S |
probably benign |
Het |
| Or1r1 |
A |
T |
11: 73,875,425 (GRCm39) |
V3E |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,398 (GRCm39) |
Y250H |
probably damaging |
Het |
| Phrf1 |
C |
T |
7: 140,838,842 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,284 (GRCm39) |
M48L |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,976 (GRCm39) |
E923G |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,414,886 (GRCm39) |
S2075R |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,011,553 (GRCm39) |
C114R |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,191,154 (GRCm39) |
R945S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,028,561 (GRCm39) |
N517S |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,258,079 (GRCm39) |
L443R |
possibly damaging |
Het |
| Smok4a |
T |
C |
17: 13,746,643 (GRCm39) |
|
noncoding transcript |
Het |
| Snx18 |
A |
G |
13: 113,754,364 (GRCm39) |
S190P |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ttc27 |
T |
G |
17: 75,136,544 (GRCm39) |
S584A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,779,359 (GRCm39) |
Y1174N |
probably damaging |
Het |
| Zbtb44 |
T |
G |
9: 30,975,544 (GRCm39) |
S391R |
probably damaging |
Het |
|
| Other mutations in Or1e29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01458:Or1e29
|
APN |
11 |
73,667,532 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01766:Or1e29
|
APN |
11 |
73,667,901 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01771:Or1e29
|
APN |
11 |
73,667,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02535:Or1e29
|
APN |
11 |
73,667,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02639:Or1e29
|
APN |
11 |
73,667,371 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03060:Or1e29
|
APN |
11 |
73,667,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03075:Or1e29
|
APN |
11 |
73,667,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Or1e29
|
UTSW |
11 |
73,667,935 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0426:Or1e29
|
UTSW |
11 |
73,667,263 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1140:Or1e29
|
UTSW |
11 |
73,667,680 (GRCm39) |
missense |
probably benign |
|
|
R1638:Or1e29
|
UTSW |
11 |
73,667,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2001:Or1e29
|
UTSW |
11 |
73,667,539 (GRCm39) |
missense |
probably benign |
|
|
R2214:Or1e29
|
UTSW |
11 |
73,667,655 (GRCm39) |
nonsense |
probably null |
|
|
R3076:Or1e29
|
UTSW |
11 |
73,667,466 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3077:Or1e29
|
UTSW |
11 |
73,667,466 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3078:Or1e29
|
UTSW |
11 |
73,667,466 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3081:Or1e29
|
UTSW |
11 |
73,668,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Or1e29
|
UTSW |
11 |
73,667,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3731:Or1e29
|
UTSW |
11 |
73,667,565 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4090:Or1e29
|
UTSW |
11 |
73,667,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Or1e29
|
UTSW |
11 |
73,667,664 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4516:Or1e29
|
UTSW |
11 |
73,667,866 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4556:Or1e29
|
UTSW |
11 |
73,667,307 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4775:Or1e29
|
UTSW |
11 |
73,667,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Or1e29
|
UTSW |
11 |
73,667,372 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5015:Or1e29
|
UTSW |
11 |
73,668,007 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5087:Or1e29
|
UTSW |
11 |
73,668,084 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6599:Or1e29
|
UTSW |
11 |
73,667,506 (GRCm39) |
missense |
probably benign |
|
|
R6701:Or1e29
|
UTSW |
11 |
73,667,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6784:Or1e29
|
UTSW |
11 |
73,667,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Or1e29
|
UTSW |
11 |
73,667,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7066:Or1e29
|
UTSW |
11 |
73,668,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7226:Or1e29
|
UTSW |
11 |
73,667,503 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7457:Or1e29
|
UTSW |
11 |
73,667,652 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7486:Or1e29
|
UTSW |
11 |
73,667,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7990:Or1e29
|
UTSW |
11 |
73,667,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8289:Or1e29
|
UTSW |
11 |
73,667,839 (GRCm39) |
missense |
probably benign |
|
|
R9131:Or1e29
|
UTSW |
11 |
73,668,150 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9160:Or1e29
|
UTSW |
11 |
73,667,881 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9239:Or1e29
|
UTSW |
11 |
73,667,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9666:Or1e29
|
UTSW |
11 |
73,667,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGACTACTATACCAAACCTGTACCC -3'
(R):5'- AAGGTCCCATCTACACAGGG -3'
Sequencing Primer
(F):5'- CCATCCTTGTAGGTCCTATGATGAG -3'
(R):5'- AGGGCATCCACAAGGTCTTTTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation