Incidental Mutation 'R2302:Ifngr1'
| ID |
244462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifngr1
|
| Ensembl Gene |
ENSMUSG00000020009 |
| Gene Name |
interferon gamma receptor 1 |
| Synonyms |
IFN-gammaR, Ifgr, IFN-gamma R, Ifngr, Nktar, CD119 |
| MMRRC Submission |
040301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
19467697-19485977 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19485393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 464
(L464P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020188]
[ENSMUST00000164591]
|
| AlphaFold |
P15261 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020188
AA Change: L464P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: L464P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
9 |
119 |
2.2e-27 |
PFAM |
|
Pfam:Interfer-bind
|
131 |
245 |
8.5e-9 |
PFAM |
|
Pfam:IFNGR1
|
168 |
331 |
1.6e-53 |
PFAM |
|
low complexity region
|
401 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164591
|
| SMART Domains |
Protein: ENSMUSP00000129309
Gene: ENSMUSG00000020009
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
9 |
74 |
2.3e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168074
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutant allele exhibit increased susceptibility to viral infection and experimental autoimmune uveoretinitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat2 |
A |
T |
2: 26,494,207 (GRCm39) |
W6R |
possibly damaging |
Het |
| Ahrr |
C |
A |
13: 74,425,780 (GRCm39) |
V72F |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,609,415 (GRCm39) |
C1369Y |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,271,701 (GRCm39) |
P538Q |
probably damaging |
Het |
| Cnn2 |
C |
G |
10: 79,827,233 (GRCm39) |
R35G |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 48,177,447 (GRCm39) |
A364S |
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,391,629 (GRCm39) |
T73A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,241,958 (GRCm39) |
N200D |
possibly damaging |
Het |
| Hyls1 |
T |
C |
9: 35,475,365 (GRCm39) |
E3G |
possibly damaging |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lhfpl2 |
T |
C |
13: 94,311,054 (GRCm39) |
V108A |
probably benign |
Het |
| Lrrc7 |
C |
G |
3: 157,840,881 (GRCm39) |
G1386R |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,849,640 (GRCm39) |
V231A |
possibly damaging |
Het |
| Mup4 |
T |
A |
4: 59,960,702 (GRCm39) |
|
probably null |
Het |
| Myh8 |
A |
T |
11: 67,177,065 (GRCm39) |
R406W |
probably damaging |
Het |
| Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,133,671 (GRCm39) |
G216S |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,377,795 (GRCm39) |
C169S |
probably damaging |
Het |
| Prokr2 |
A |
G |
2: 132,223,104 (GRCm39) |
I146T |
probably damaging |
Het |
| Rab3b |
T |
C |
4: 108,786,640 (GRCm39) |
V130A |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,931,015 (GRCm39) |
I672N |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,108,089 (GRCm39) |
T1546A |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,399 (GRCm39) |
E340V |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,919,756 (GRCm39) |
|
noncoding transcript |
Het |
| Svopl |
A |
T |
6: 38,018,101 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
A |
G |
5: 119,979,924 (GRCm39) |
K157E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,724,696 (GRCm39) |
C6333S |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,702,179 (GRCm39) |
K158E |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,482,057 (GRCm39) |
N535S |
probably damaging |
Het |
|
| Other mutations in Ifngr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Ifngr1
|
APN |
10 |
19,484,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01125:Ifngr1
|
APN |
10 |
19,473,161 (GRCm39) |
splice site |
probably benign |
|
|
IGL01366:Ifngr1
|
APN |
10 |
19,485,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Ifngr1
|
APN |
10 |
19,485,202 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02037:Ifngr1
|
APN |
10 |
19,483,007 (GRCm39) |
missense |
probably benign |
0.26 |
|
Marigold
|
UTSW |
10 |
19,477,233 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB007:Ifngr1
|
UTSW |
10 |
19,484,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB017:Ifngr1
|
UTSW |
10 |
19,484,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Ifngr1
|
UTSW |
10 |
19,485,197 (GRCm39) |
nonsense |
probably null |
|
|
R0325:Ifngr1
|
UTSW |
10 |
19,473,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Ifngr1
|
UTSW |
10 |
19,479,690 (GRCm39) |
splice site |
probably benign |
|
|
R1305:Ifngr1
|
UTSW |
10 |
19,482,001 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1496:Ifngr1
|
UTSW |
10 |
19,477,193 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1597:Ifngr1
|
UTSW |
10 |
19,485,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2019:Ifngr1
|
UTSW |
10 |
19,467,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2484:Ifngr1
|
UTSW |
10 |
19,477,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Ifngr1
|
UTSW |
10 |
19,477,233 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4464:Ifngr1
|
UTSW |
10 |
19,473,265 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4863:Ifngr1
|
UTSW |
10 |
19,485,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Ifngr1
|
UTSW |
10 |
19,484,909 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6047:Ifngr1
|
UTSW |
10 |
19,482,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Ifngr1
|
UTSW |
10 |
19,482,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6750:Ifngr1
|
UTSW |
10 |
19,485,099 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6950:Ifngr1
|
UTSW |
10 |
19,483,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Ifngr1
|
UTSW |
10 |
19,485,101 (GRCm39) |
missense |
probably benign |
|
|
R7930:Ifngr1
|
UTSW |
10 |
19,484,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Ifngr1
|
UTSW |
10 |
19,485,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8436:Ifngr1
|
UTSW |
10 |
19,479,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Ifngr1
|
UTSW |
10 |
19,485,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Ifngr1
|
UTSW |
10 |
19,483,041 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
T0975:Ifngr1
|
UTSW |
10 |
19,485,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0005:Ifngr1
|
UTSW |
10 |
19,485,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCAGTCAGGCCCTTGTAG -3'
(R):5'- CCACAGGATCCTTATTCACGTATC -3'
Sequencing Primer
(F):5'- AAACGGCTCTGACAGTGGC -3'
(R):5'- AGGATCCTTATTCACGTATCTAAGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation