Incidental Mutation 'R6371:Ifnar2'
| ID |
513543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifnar2
|
| Ensembl Gene |
ENSMUSG00000022971 |
| Gene Name |
interferon (alpha and beta) receptor 2 |
| Synonyms |
Ifnar-2 |
| MMRRC Submission |
044521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R6371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91169671-91202477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91184986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 24
(Y24H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023693]
[ENSMUST00000089042]
[ENSMUST00000117836]
[ENSMUST00000134491]
[ENSMUST00000139503]
|
| AlphaFold |
O35664 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023693
AA Change: Y126H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023693
Gene: ENSMUSG00000022971
AA Change: Y126H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
9 |
118 |
8.9e-18 |
PFAM |
|
Pfam:Interfer-bind
|
132 |
231 |
9.2e-19 |
PFAM |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089042
AA Change: Y126H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000086443
Gene: ENSMUSG00000022971
AA Change: Y126H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
9 |
118 |
2.9e-18 |
PFAM |
|
Pfam:Interfer-bind
|
132 |
231 |
1.5e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117836
AA Change: Y126H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113358
Gene: ENSMUSG00000022971
AA Change: Y126H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
9 |
118 |
2.9e-18 |
PFAM |
|
Pfam:Interfer-bind
|
132 |
231 |
1.5e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134491
AA Change: Y24H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134796
Gene: ENSMUSG00000022971
AA Change: Y24H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Interfer-bind
|
30 |
117 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139503
AA Change: Y24H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160764
|
| SMART Domains |
Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
2 |
92 |
5.1e1 |
SMART |
|
FN3
|
110 |
187 |
9.09e0 |
SMART |
|
FN3
|
201 |
291 |
1.39e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161517
|
| SMART Domains |
Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Interfer-bind
|
1 |
100 |
7.5e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with mutations of this gene have defects in immune responses involving, variously, NK cells, CD4+ and CD8+ T cells and B cells in response to induced and transplanted tumors, viruses, and double stranded DNA. These defects include diminished secretion of type I and type II interferons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,453,894 (GRCm39) |
S237L |
probably damaging |
Het |
| Ank3 |
T |
G |
10: 69,644,709 (GRCm39) |
L58V |
probably damaging |
Het |
| Arsb |
A |
T |
13: 93,926,574 (GRCm39) |
I115F |
possibly damaging |
Het |
| Atad2b |
T |
C |
12: 5,023,970 (GRCm39) |
Y32H |
probably damaging |
Het |
| Brd1 |
A |
C |
15: 88,598,201 (GRCm39) |
M515R |
probably benign |
Het |
| Cbx7 |
A |
G |
15: 79,803,023 (GRCm39) |
S30P |
possibly damaging |
Het |
| Cdk12 |
A |
G |
11: 98,136,114 (GRCm39) |
T1123A |
unknown |
Het |
| Cep170b |
A |
G |
12: 112,707,379 (GRCm39) |
D375G |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,390,369 (GRCm39) |
K164E |
probably benign |
Het |
| Clip4 |
A |
C |
17: 72,163,459 (GRCm39) |
K677T |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,617,540 (GRCm39) |
I137T |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,802,816 (GRCm39) |
S39P |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,143,353 (GRCm39) |
N1318K |
probably benign |
Het |
| Emc1 |
C |
T |
4: 139,098,976 (GRCm39) |
Q820* |
probably null |
Het |
| Fbxl2 |
G |
A |
9: 113,818,451 (GRCm39) |
T170I |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,762,358 (GRCm39) |
V257A |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,269,006 (GRCm39) |
Y2213H |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Itgb2 |
C |
A |
10: 77,384,431 (GRCm39) |
P184H |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,781,436 (GRCm39) |
D769E |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,741,666 (GRCm39) |
M3087T |
possibly damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,795,800 (GRCm39) |
|
probably null |
Het |
| Ms4a6b |
A |
G |
19: 11,497,728 (GRCm39) |
E9G |
probably damaging |
Het |
| Nat3 |
G |
A |
8: 67,976,831 (GRCm39) |
|
probably null |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
| Nop58 |
T |
G |
1: 59,750,471 (GRCm39) |
|
probably benign |
Het |
| Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
| Or8s16 |
A |
G |
15: 98,211,219 (GRCm39) |
Y71H |
possibly damaging |
Het |
| P3h4 |
C |
T |
11: 100,302,575 (GRCm39) |
E354K |
probably benign |
Het |
| Plekhm2 |
T |
G |
4: 141,356,843 (GRCm39) |
T787P |
possibly damaging |
Het |
| Ppia |
C |
T |
11: 6,368,230 (GRCm39) |
T37I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,200,511 (GRCm39) |
M1330L |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,539,426 (GRCm39) |
E53G |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,823,482 (GRCm39) |
V721E |
probably damaging |
Het |
| Slc33a1 |
A |
T |
3: 63,850,709 (GRCm39) |
D538E |
probably benign |
Het |
| Son |
T |
C |
16: 91,471,629 (GRCm39) |
|
|
Het |
| Srebf1 |
A |
T |
11: 60,094,341 (GRCm39) |
S591R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Taok2 |
G |
A |
7: 126,469,319 (GRCm39) |
R1170W |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,845,688 (GRCm39) |
V210E |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,775,249 (GRCm39) |
N1648K |
possibly damaging |
Het |
| Vgll3 |
C |
T |
16: 65,636,131 (GRCm39) |
P94L |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,362 (GRCm39) |
V740E |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 20,040,460 (GRCm39) |
E1127G |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,329 (GRCm39) |
Y252N |
probably damaging |
Het |
|
| Other mutations in Ifnar2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Ifnar2
|
APN |
16 |
91,188,599 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02817:Ifnar2
|
APN |
16 |
91,184,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
macro-2
|
UTSW |
16 |
91,180,787 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0701:Ifnar2
|
UTSW |
16 |
91,201,117 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1342:Ifnar2
|
UTSW |
16 |
91,200,809 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1542:Ifnar2
|
UTSW |
16 |
91,196,153 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1631:Ifnar2
|
UTSW |
16 |
91,188,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1913:Ifnar2
|
UTSW |
16 |
91,201,058 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3078:Ifnar2
|
UTSW |
16 |
91,182,889 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4193:Ifnar2
|
UTSW |
16 |
91,201,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4592:Ifnar2
|
UTSW |
16 |
91,188,684 (GRCm39) |
missense |
probably benign |
|
|
R5385:Ifnar2
|
UTSW |
16 |
91,201,086 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5545:Ifnar2
|
UTSW |
16 |
91,181,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5645:Ifnar2
|
UTSW |
16 |
91,201,115 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6223:Ifnar2
|
UTSW |
16 |
91,184,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6710:Ifnar2
|
UTSW |
16 |
91,190,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6929:Ifnar2
|
UTSW |
16 |
91,190,766 (GRCm39) |
nonsense |
probably null |
|
|
R7530:Ifnar2
|
UTSW |
16 |
91,201,201 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7763:Ifnar2
|
UTSW |
16 |
91,196,181 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8444:Ifnar2
|
UTSW |
16 |
91,200,857 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8529:Ifnar2
|
UTSW |
16 |
91,188,684 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8969:Ifnar2
|
UTSW |
16 |
91,201,060 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9016:Ifnar2
|
UTSW |
16 |
91,201,073 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9667:Ifnar2
|
UTSW |
16 |
91,184,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9765:Ifnar2
|
UTSW |
16 |
91,184,975 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCACACGCATGTTCGTC -3'
(R):5'- TGCCTTATACACGTGCCGAAC -3'
Sequencing Primer
(F):5'- ACACGCATGTTCGTCTTTCC -3'
(R):5'- GTGCCGAACAAAAACCTGAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation