Incidental Mutation 'R3853:Or7a38'
| ID |
276019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7a38
|
| Ensembl Gene |
ENSMUSG00000094673 |
| Gene Name |
olfactory receptor family 7 subfamily A member 38 |
| Synonyms |
GA_x6K02T03FR9-4826-3919, Olfr1354, Olfr233-ps1, MOR185-8, EG257869, MOR139-7, MOR139-5, GA_x6K02T2QGN0-2895081-2894349 |
| MMRRC Submission |
040900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R3853 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78752676-78753770 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78752781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 36
(Y36N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075859]
[ENSMUST00000204587]
[ENSMUST00000217073]
|
| AlphaFold |
E9Q5G9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075859
AA Change: Y36N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093126
Gene: ENSMUSG00000094673
AA Change: Y36N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
2.4e-49 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
3.8e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203132
AA Change: Y36N
|
| SMART Domains |
Protein: ENSMUSP00000144897
Gene: ENSMUSG00000094673
AA Change: Y36N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
2.4e-49 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
3.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204587
AA Change: Y36N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205040
AA Change: Y36N
|
| SMART Domains |
Protein: ENSMUSP00000144994
Gene: ENSMUSG00000094673
AA Change: Y36N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
146 |
9.6e-24 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
147 |
1.8e-6 |
PFAM |
|
Pfam:7tm_1
|
42 |
147 |
4e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217073
AA Change: Y36N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
96% (47/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,976 (GRCm39) |
H316L |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,509,090 (GRCm38) |
|
probably benign |
Het |
| Cluh |
A |
G |
11: 74,547,279 (GRCm39) |
D44G |
probably benign |
Het |
| Copb1 |
A |
G |
7: 113,822,551 (GRCm39) |
V726A |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,582,291 (GRCm39) |
V79A |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,720,554 (GRCm39) |
I291F |
probably benign |
Het |
| Eya4 |
C |
T |
10: 22,992,574 (GRCm39) |
A460T |
probably damaging |
Het |
| Gjd3 |
G |
T |
11: 102,690,952 (GRCm39) |
D350E |
probably benign |
Het |
| Hcar2 |
T |
C |
5: 124,002,475 (GRCm39) |
M343V |
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,046 (GRCm39) |
Y146C |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,139 (GRCm39) |
Q32* |
probably null |
Het |
| Llgl1 |
T |
C |
11: 60,598,075 (GRCm39) |
L373P |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,254,655 (GRCm39) |
C642R |
probably damaging |
Het |
| Mbd3l2 |
A |
G |
9: 18,356,092 (GRCm39) |
Q139R |
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,101,562 (GRCm39) |
N410K |
probably benign |
Het |
| Or10g7 |
A |
T |
9: 39,905,450 (GRCm39) |
T115S |
probably damaging |
Het |
| Or4a71 |
A |
T |
2: 89,357,917 (GRCm39) |
M279K |
possibly damaging |
Het |
| Or5b112 |
A |
G |
19: 13,319,862 (GRCm39) |
T247A |
possibly damaging |
Het |
| Or8b1 |
G |
T |
9: 38,400,247 (GRCm39) |
R307S |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,518,580 (GRCm39) |
|
probably benign |
Het |
| Prkce |
A |
G |
17: 86,476,277 (GRCm39) |
D86G |
probably damaging |
Het |
| Pwwp3b |
C |
T |
X: 138,137,403 (GRCm39) |
|
probably null |
Het |
| Rad21 |
T |
G |
15: 51,835,712 (GRCm39) |
I234L |
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,210,932 (GRCm39) |
M1695K |
possibly damaging |
Het |
| Sdccag8 |
T |
C |
1: 176,681,361 (GRCm39) |
S325P |
probably damaging |
Het |
| Sebox |
G |
A |
11: 78,394,975 (GRCm39) |
G106R |
probably benign |
Het |
| Serpinb9 |
A |
G |
13: 33,199,503 (GRCm39) |
E266G |
possibly damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,390 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,289,372 (GRCm39) |
|
probably benign |
Het |
| Tmc6 |
A |
T |
11: 117,663,884 (GRCm39) |
L474* |
probably null |
Het |
| Tmem132c |
T |
C |
5: 127,436,933 (GRCm39) |
Y141H |
probably benign |
Het |
| Trap1 |
G |
A |
16: 3,872,686 (GRCm39) |
R328C |
possibly damaging |
Het |
| Trim36 |
C |
A |
18: 46,305,439 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,069,055 (GRCm39) |
Y299F |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,728,975 (GRCm39) |
K630E |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,567,333 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,775,335 (GRCm39) |
C1677F |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,485,018 (GRCm39) |
V2D |
|
Het |
| Usp9x |
A |
G |
X: 12,964,822 (GRCm39) |
D77G |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zan |
A |
C |
5: 137,472,326 (GRCm39) |
L140R |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,709,346 (GRCm39) |
S508T |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,777 (GRCm39) |
Y419C |
possibly damaging |
Het |
|
| Other mutations in Or7a38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02903:Or7a38
|
APN |
10 |
78,753,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02962:Or7a38
|
APN |
10 |
78,752,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03032:Or7a38
|
APN |
10 |
78,753,471 (GRCm39) |
missense |
probably benign |
0.21 |
|
PIT4495001:Or7a38
|
UTSW |
10 |
78,752,821 (GRCm39) |
missense |
probably benign |
|
|
R0268:Or7a38
|
UTSW |
10 |
78,753,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0359:Or7a38
|
UTSW |
10 |
78,753,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0382:Or7a38
|
UTSW |
10 |
78,752,960 (GRCm39) |
nonsense |
probably null |
|
|
R1895:Or7a38
|
UTSW |
10 |
78,752,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Or7a38
|
UTSW |
10 |
78,752,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Or7a38
|
UTSW |
10 |
78,753,421 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4756:Or7a38
|
UTSW |
10 |
78,753,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Or7a38
|
UTSW |
10 |
78,753,420 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5607:Or7a38
|
UTSW |
10 |
78,752,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7070:Or7a38
|
UTSW |
10 |
78,753,102 (GRCm39) |
missense |
probably benign |
|
|
R7088:Or7a38
|
UTSW |
10 |
78,753,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7212:Or7a38
|
UTSW |
10 |
78,753,339 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7348:Or7a38
|
UTSW |
10 |
78,753,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7386:Or7a38
|
UTSW |
10 |
78,752,677 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R7847:Or7a38
|
UTSW |
10 |
78,752,730 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8976:Or7a38
|
UTSW |
10 |
78,753,418 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9267:Or7a38
|
UTSW |
10 |
78,752,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Or7a38
|
UTSW |
10 |
78,753,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGAGTGAAAGGAATGTCTATC -3'
(R):5'- CTGCATATGTAATGGCCTTGCTTTG -3'
Sequencing Primer
(F):5'- AGAGACTCCATAAGAAGAACAATTTC -3'
(R):5'- GCTTTGAGTCTGTATATTTACCAGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation