Incidental Mutation 'R5235:Ido2'
| ID |
398304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ido2
|
| Ensembl Gene |
ENSMUSG00000031549 |
| Gene Name |
indoleamine 2,3-dioxygenase 2 |
| Synonyms |
Ido2, C230043N17Rik, Indol1 |
| MMRRC Submission |
042807-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5235 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25021908-25066349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25037202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 168
(I168N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121992]
|
| AlphaFold |
Q8R0V5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121992
AA Change: I168N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113979
Gene: ENSMUSG00000031549
AA Change: I168N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IDO
|
15 |
399 |
1.4e-124 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138155
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140417
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Along with the enzymes encoded by the INDO (MIM 147435) and TDO2 (MIM 191070) genes, the enzyme encoded by the INDOL1 gene metabolizes tryptophan in the kynurenine pathway (Ball et al., 2007 [PubMed 17499941]).[supplied by OMIM, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired T cell function and decreased susceptibility to type IV hypersensitivity reaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
A |
7: 41,274,256 (GRCm39) |
H126Q |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Aga |
A |
G |
8: 53,967,361 (GRCm39) |
H124R |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,572,212 (GRCm39) |
G49R |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,096,714 (GRCm39) |
V270L |
possibly damaging |
Het |
| Arfrp1 |
T |
C |
2: 181,001,298 (GRCm39) |
H145R |
probably benign |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atg3 |
A |
G |
16: 44,979,520 (GRCm39) |
T20A |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,881 (GRCm39) |
L112P |
probably damaging |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,492,674 (GRCm39) |
T3156A |
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,084,897 (GRCm39) |
Y748C |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,239,955 (GRCm39) |
|
probably null |
Het |
| Fras1 |
G |
A |
5: 96,748,609 (GRCm39) |
V695M |
probably benign |
Het |
| Gpx7 |
A |
G |
4: 108,258,189 (GRCm39) |
S135P |
probably damaging |
Het |
| Lca5 |
A |
T |
9: 83,305,107 (GRCm39) |
L233* |
probably null |
Het |
| Liph |
A |
C |
16: 21,802,785 (GRCm39) |
L95V |
probably damaging |
Het |
| Mast1 |
A |
T |
8: 85,640,068 (GRCm39) |
L1113Q |
probably damaging |
Het |
| Nlrx1 |
C |
T |
9: 44,175,047 (GRCm39) |
G243D |
probably damaging |
Het |
| Or4ac1-ps1 |
G |
A |
2: 88,370,769 (GRCm39) |
|
noncoding transcript |
Het |
| Or5d40 |
T |
A |
2: 88,015,912 (GRCm39) |
D230E |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,755,693 (GRCm39) |
L1033P |
probably damaging |
Het |
| Ovol3 |
A |
T |
7: 29,932,899 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,619 (GRCm39) |
N215S |
probably benign |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,488 (GRCm39) |
Y515H |
probably damaging |
Het |
| Phlda1 |
CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC |
CCAGCCCCAACCTCAGCCCCAACC |
10: 111,343,252 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,582,355 (GRCm39) |
N1568Y |
probably damaging |
Het |
| Sec16b |
A |
T |
1: 157,362,334 (GRCm39) |
I251F |
probably benign |
Het |
| Slc29a4 |
T |
A |
5: 142,704,523 (GRCm39) |
I355N |
probably damaging |
Het |
| Snx29 |
G |
T |
16: 11,231,110 (GRCm39) |
C39F |
possibly damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,781 (GRCm39) |
M101V |
probably benign |
Het |
| Stat2 |
T |
C |
10: 128,126,901 (GRCm39) |
|
probably null |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,393 (GRCm39) |
D137G |
probably damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,993,802 (GRCm39) |
E97G |
probably damaging |
Het |
| Ugt8a |
A |
C |
3: 125,661,129 (GRCm39) |
H454Q |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,013 (GRCm39) |
I706L |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,994,972 (GRCm39) |
I3256V |
probably null |
Het |
|
| Other mutations in Ido2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0413:Ido2
|
UTSW |
8 |
25,048,159 (GRCm39) |
splice site |
probably null |
|
|
R1103:Ido2
|
UTSW |
8 |
25,066,239 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1601:Ido2
|
UTSW |
8 |
25,066,205 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1868:Ido2
|
UTSW |
8 |
25,043,776 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2158:Ido2
|
UTSW |
8 |
25,030,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Ido2
|
UTSW |
8 |
25,025,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Ido2
|
UTSW |
8 |
25,025,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Ido2
|
UTSW |
8 |
25,025,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Ido2
|
UTSW |
8 |
25,023,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Ido2
|
UTSW |
8 |
25,023,776 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3735:Ido2
|
UTSW |
8 |
25,025,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3820:Ido2
|
UTSW |
8 |
25,023,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3821:Ido2
|
UTSW |
8 |
25,023,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3822:Ido2
|
UTSW |
8 |
25,023,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4520:Ido2
|
UTSW |
8 |
25,066,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4824:Ido2
|
UTSW |
8 |
25,023,875 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4949:Ido2
|
UTSW |
8 |
25,023,970 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5580:Ido2
|
UTSW |
8 |
25,040,882 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5961:Ido2
|
UTSW |
8 |
25,023,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Ido2
|
UTSW |
8 |
25,023,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Ido2
|
UTSW |
8 |
25,048,212 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7186:Ido2
|
UTSW |
8 |
25,040,826 (GRCm39) |
splice site |
probably null |
|
|
R7248:Ido2
|
UTSW |
8 |
25,038,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7248:Ido2
|
UTSW |
8 |
25,030,657 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Ido2
|
UTSW |
8 |
25,025,154 (GRCm39) |
splice site |
probably null |
|
|
R7788:Ido2
|
UTSW |
8 |
25,037,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7923:Ido2
|
UTSW |
8 |
25,066,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Ido2
|
UTSW |
8 |
25,025,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8191:Ido2
|
UTSW |
8 |
25,023,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9132:Ido2
|
UTSW |
8 |
25,023,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9429:Ido2
|
UTSW |
8 |
25,037,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTAGACGGAGAAGTCGGTTC -3'
(R):5'- TGTGGCAGCAATTCATCCTTGG -3'
Sequencing Primer
(F):5'- GTCGGTTCACTCCAGGCTAAAAG -3'
(R):5'- CTTGGGTTAGAACTCTAGTCAGGCAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation