Incidental Mutation 'R0392:Or5m13'
| ID |
31748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5m13
|
| Ensembl Gene |
ENSMUSG00000058884 |
| Gene Name |
olfactory receptor family 5 subfamily M member 13 |
| Synonyms |
MOR196-5P, GA_x6K02T2Q125-47397266-47398205, Olfr1025, MOR196-6_p |
| MMRRC Submission |
038598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
85748271-85749097 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85749106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 279
(I279N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056718]
[ENSMUST00000188749]
[ENSMUST00000213474]
[ENSMUST00000217615]
[ENSMUST00000219615]
|
| AlphaFold |
A0A140T8K3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056718
|
| SMART Domains |
Protein: ENSMUSP00000049887
Gene: ENSMUSG00000042863
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
6.1e-58 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9e-25 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000076311
Gene: ENSMUSG00000058884
AA Change: I279N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.5e-57 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.6e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188749
AA Change: I279N
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139860
Gene: ENSMUSG00000058884
AA Change: I279N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
41 |
290 |
5.7e-30 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
7.8e-48 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213474
AA Change: I279N
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219615
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bcan |
T |
A |
3: 87,900,869 (GRCm39) |
K455* |
probably null |
Het |
| Casp12 |
T |
A |
9: 5,348,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc61 |
T |
C |
7: 18,625,027 (GRCm39) |
M504V |
probably benign |
Het |
| Cd53 |
A |
T |
3: 106,670,592 (GRCm39) |
V147E |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,785,308 (GRCm39) |
Y226H |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,671 (GRCm39) |
D413G |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,193,230 (GRCm39) |
I254T |
possibly damaging |
Het |
| Ddx39a |
T |
G |
8: 84,448,366 (GRCm39) |
M206R |
probably damaging |
Het |
| Dgki |
T |
A |
6: 36,977,113 (GRCm39) |
T666S |
probably damaging |
Het |
| Dnaaf8 |
T |
C |
16: 4,795,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7a |
C |
A |
1: 53,543,357 (GRCm39) |
C2271F |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,610 (GRCm39) |
K133R |
probably benign |
Het |
| Gm11146 |
T |
A |
16: 77,394,054 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
A |
T |
14: 57,733,617 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,460 (GRCm39) |
|
probably benign |
Het |
| Lamp5 |
T |
C |
2: 135,902,817 (GRCm39) |
S179P |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,907,113 (GRCm39) |
S788P |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,899,499 (GRCm39) |
W267R |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,151 (GRCm39) |
I175M |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,011 (GRCm39) |
K386E |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,220,660 (GRCm39) |
N2056S |
probably benign |
Het |
| Pold2 |
T |
C |
11: 5,826,776 (GRCm39) |
I53V |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,328,212 (GRCm39) |
D1071E |
probably benign |
Het |
| Rtp3 |
A |
T |
9: 110,818,621 (GRCm39) |
M20K |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,277 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,262,608 (GRCm39) |
S94P |
probably damaging |
Het |
| Slitrk5 |
G |
A |
14: 111,916,465 (GRCm39) |
V30I |
probably benign |
Het |
| St8sia5 |
G |
A |
18: 77,342,102 (GRCm39) |
V271M |
probably damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,383,062 (GRCm39) |
T240N |
probably damaging |
Het |
|
| Other mutations in Or5m13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01660:Or5m13
|
APN |
2 |
85,748,908 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02881:Or5m13
|
APN |
2 |
85,748,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0097:Or5m13
|
UTSW |
2 |
85,749,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0097:Or5m13
|
UTSW |
2 |
85,749,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0324:Or5m13
|
UTSW |
2 |
85,748,295 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0765:Or5m13
|
UTSW |
2 |
85,749,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1199:Or5m13
|
UTSW |
2 |
85,748,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1894:Or5m13
|
UTSW |
2 |
85,748,599 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2027:Or5m13
|
UTSW |
2 |
85,749,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2141:Or5m13
|
UTSW |
2 |
85,749,171 (GRCm39) |
missense |
probably null |
|
|
R3871:Or5m13
|
UTSW |
2 |
85,748,926 (GRCm39) |
splice site |
probably null |
|
|
R4837:Or5m13
|
UTSW |
2 |
85,748,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4945:Or5m13
|
UTSW |
2 |
85,748,917 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5056:Or5m13
|
UTSW |
2 |
85,748,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5441:Or5m13
|
UTSW |
2 |
85,748,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5960:Or5m13
|
UTSW |
2 |
85,749,069 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6807:Or5m13
|
UTSW |
2 |
85,748,382 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7320:Or5m13
|
UTSW |
2 |
85,748,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8523:Or5m13
|
UTSW |
2 |
85,748,407 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8715:Or5m13
|
UTSW |
2 |
85,748,273 (GRCm39) |
start codon destroyed |
probably null |
0.81 |
|
R8734:Or5m13
|
UTSW |
2 |
85,748,993 (GRCm39) |
nonsense |
probably null |
|
|
R9275:Or5m13
|
UTSW |
2 |
85,749,046 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9427:Or5m13
|
UTSW |
2 |
85,748,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9728:Or5m13
|
UTSW |
2 |
85,748,887 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
V1662:Or5m13
|
UTSW |
2 |
85,748,938 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Or5m13
|
UTSW |
2 |
85,748,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACAGCCATCCTGCGAATCCG -3'
(R):5'- AGTCTACCTTTGCCAAAACAGCTCC -3'
Sequencing Primer
(F):5'- ATCCTGCGAATCCGTTCTG -3'
(R):5'- AAGGTAGCATACCCTGCTGTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation