Incidental Mutation 'R5125:Or13c7b'
| ID |
393487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13c7b
|
| Ensembl Gene |
ENSMUSG00000110970 |
| Gene Name |
olfactory receptor family 13 subfamily C member 7B |
| Synonyms |
mOR37b, GA_x6K02T2N78B-16125144-16126100, Olfr37b, OR37B, Olfr156, MOR262-6 |
| MMRRC Submission |
042713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R5125 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43820335-43821433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43820480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 294
(I294F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079234]
[ENSMUST00000079465]
[ENSMUST00000214843]
[ENSMUST00000215406]
|
| AlphaFold |
Q8VGA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079234
AA Change: I294F
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078226
Gene: ENSMUSG00000110970
AA Change: I294F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
314 |
4.8e-58 |
PFAM |
|
Pfam:7tm_1
|
41 |
296 |
2.9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079465
AA Change: I294F
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078431
Gene: ENSMUSG00000110970
AA Change: I294F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
314 |
1.2e-58 |
PFAM |
|
Pfam:7tm_1
|
41 |
296 |
6.5e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214843
AA Change: I294F
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215406
AA Change: I294F
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
96% (49/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,589,948 (GRCm39) |
F683L |
probably benign |
Het |
| Denr |
A |
T |
5: 124,065,144 (GRCm39) |
I166F |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Ei24 |
T |
A |
9: 36,693,742 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Gm7356 |
T |
C |
17: 14,221,576 (GRCm39) |
D151G |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,186,839 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,900,297 (GRCm39) |
V195M |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,489,379 (GRCm39) |
V4520A |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
| Lmx1a |
C |
T |
1: 167,658,256 (GRCm39) |
S213L |
possibly damaging |
Het |
| Ly6g6d |
A |
G |
17: 35,293,418 (GRCm39) |
I8T |
possibly damaging |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,174,635 (GRCm39) |
G1851D |
possibly damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| P2rx2 |
G |
A |
5: 110,490,517 (GRCm39) |
T66I |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,419,912 (GRCm39) |
E1197G |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Rbm39 |
A |
T |
2: 156,004,785 (GRCm39) |
M184K |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,118,239 (GRCm39) |
V2935A |
possibly damaging |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Sh3rf3 |
C |
G |
10: 58,967,012 (GRCm39) |
P785A |
probably benign |
Het |
| Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
| Slc24a3 |
T |
C |
2: 145,360,767 (GRCm39) |
V120A |
possibly damaging |
Het |
| Sost |
C |
T |
11: 101,854,767 (GRCm39) |
G181R |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Stim2 |
T |
C |
5: 54,267,939 (GRCm39) |
S87P |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,559,671 (GRCm39) |
M407T |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,856,399 (GRCm39) |
H493R |
possibly damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,888,859 (GRCm39) |
V783E |
possibly damaging |
Het |
|
| Other mutations in Or13c7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02508:Or13c7b
|
APN |
4 |
43,821,289 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02690:Or13c7b
|
APN |
4 |
43,821,190 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1454:Or13c7b
|
UTSW |
4 |
43,820,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Or13c7b
|
UTSW |
4 |
43,820,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Or13c7b
|
UTSW |
4 |
43,820,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1859:Or13c7b
|
UTSW |
4 |
43,820,779 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2146:Or13c7b
|
UTSW |
4 |
43,821,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Or13c7b
|
UTSW |
4 |
43,820,544 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3162:Or13c7b
|
UTSW |
4 |
43,820,544 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3162:Or13c7b
|
UTSW |
4 |
43,820,544 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3414:Or13c7b
|
UTSW |
4 |
43,821,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3936:Or13c7b
|
UTSW |
4 |
43,821,359 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R4497:Or13c7b
|
UTSW |
4 |
43,821,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Or13c7b
|
UTSW |
4 |
43,820,563 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5371:Or13c7b
|
UTSW |
4 |
43,821,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Or13c7b
|
UTSW |
4 |
43,821,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Or13c7b
|
UTSW |
4 |
43,820,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5889:Or13c7b
|
UTSW |
4 |
43,820,492 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6461:Or13c7b
|
UTSW |
4 |
43,821,355 (GRCm39) |
missense |
probably benign |
|
|
R6865:Or13c7b
|
UTSW |
4 |
43,821,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7566:Or13c7b
|
UTSW |
4 |
43,820,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Or13c7b
|
UTSW |
4 |
43,821,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9048:Or13c7b
|
UTSW |
4 |
43,820,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Or13c7b
|
UTSW |
4 |
43,821,109 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1177:Or13c7b
|
UTSW |
4 |
43,821,337 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Or13c7b
|
UTSW |
4 |
43,820,900 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGATCTTCAGGGCTAGCCATC -3'
(R):5'- TACTCTCCACCATCCTGAGG -3'
Sequencing Primer
(F):5'- CCATCAAGGCTATGCTGAATG -3'
(R):5'- TCCACCATCCTGAGGATCCC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation