Incidental Mutation 'V1662:Or5m13'
| ID |
63474 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
V1662 ()
of strain
633
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
85748271-85749097 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85748938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 223
(T223K)
|
| 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: T223K
| 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 |
probably benign
Transcript: ENSMUST00000188749
AA Change: T223K
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139860
Gene: ENSMUSG00000058884
AA Change: T223K
| 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 |
probably benign
Transcript: ENSMUST00000213474
AA Change: T223K
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219615
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
C |
5: 114,376,769 (GRCm39) |
G1951R |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,071,894 (GRCm39) |
L146Q |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,323,540 (GRCm39) |
V601M |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,540,636 (GRCm39) |
R154Q |
probably damaging |
Het |
| Bank1 |
T |
A |
3: 135,760,179 (GRCm39) |
D782V |
probably damaging |
Het |
| Bhlha9 |
G |
T |
11: 76,563,862 (GRCm39) |
R163L |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,596,283 (GRCm39) |
N1913D |
possibly damaging |
Het |
| Cd7 |
T |
C |
11: 120,927,952 (GRCm39) |
I184V |
probably benign |
Het |
| Cdk2ap1 |
T |
A |
5: 124,486,739 (GRCm39) |
I68F |
possibly damaging |
Het |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| D6Ertd527e |
T |
C |
6: 87,088,874 (GRCm39) |
S346P |
unknown |
Het |
| Daam2 |
A |
G |
17: 49,771,629 (GRCm39) |
L839P |
possibly damaging |
Het |
| Gask1a |
A |
G |
9: 121,794,091 (GRCm39) |
R82G |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| H2-T9 |
A |
G |
17: 36,439,823 (GRCm39) |
Y104H |
probably benign |
Het |
| Itgav |
C |
T |
2: 83,614,198 (GRCm39) |
R519W |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Or2y8 |
T |
C |
11: 52,036,004 (GRCm39) |
M118V |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
| Pyroxd1 |
G |
A |
6: 142,304,169 (GRCm39) |
G307S |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,783 (GRCm39) |
Y443F |
probably damaging |
Het |
| Rpusd4 |
C |
A |
9: 35,184,057 (GRCm39) |
S237R |
probably benign |
Het |
| Sdk2 |
A |
C |
11: 113,725,734 (GRCm39) |
W1172G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,245 (GRCm39) |
I249T |
possibly 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 |
|
R0392:Or5m13
|
UTSW |
2 |
85,749,106 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
|
Z1176:Or5m13
|
UTSW |
2 |
85,748,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAAATGTCCAGAAGCGTCTGCC -3'
(R):5'- AGACCGCCACAATTTTCCCCTG -3'
Sequencing Primer
(F):5'- TTGCAAATGGCCTGGCAC -3'
(R):5'- GCTCTACAGACTTCTCAGATGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation