Incidental Mutation 'R5728:Nfatc2'
| ID |
501457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfatc2
|
| Ensembl Gene |
ENSMUSG00000027544 |
| Gene Name |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 |
| Synonyms |
NFAT1, NFAT1-D, NFATp |
| MMRRC Submission |
043345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5728 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168322169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 910
(V910A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074618]
[ENSMUST00000109184]
|
| AlphaFold |
Q60591 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074618
AA Change: V910A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: V910A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
283 |
N/A |
INTRINSIC |
|
Pfam:RHD_DNA_bind
|
412 |
572 |
2.8e-24 |
PFAM |
|
IPT
|
579 |
678 |
1.65e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109184
|
| SMART Domains |
Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
283 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
412 |
572 |
1.3e-24 |
PFAM |
|
IPT
|
579 |
678 |
1.65e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151292
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mutations in this locus cause altered immune system function such as decreased cytokine production by mast cells, increased Th2 responses after infection with a parasite but decreased Th1 responses after myobacterial infection, retarded thymic involutionand massive germinal center formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018P22Rik |
T |
A |
2: 103,953,213 (GRCm39) |
M13K |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,520,576 (GRCm39) |
V4493D |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,612,783 (GRCm39) |
|
probably null |
Het |
| B4galnt4 |
A |
G |
7: 140,650,488 (GRCm39) |
D785G |
probably benign |
Het |
| Chtop |
C |
T |
3: 90,407,399 (GRCm39) |
G187D |
probably damaging |
Het |
| Cnih1 |
A |
G |
14: 47,017,648 (GRCm39) |
F78S |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcun1d4 |
T |
C |
5: 73,677,491 (GRCm39) |
F57L |
possibly damaging |
Het |
| Dgkz |
A |
G |
2: 91,776,132 (GRCm39) |
S44P |
possibly damaging |
Het |
| Dhps |
A |
G |
8: 85,799,964 (GRCm39) |
D138G |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,750,509 (GRCm39) |
E282G |
probably damaging |
Het |
| Exoc6b |
T |
C |
6: 84,837,173 (GRCm39) |
Y342C |
probably damaging |
Het |
| Fasn |
A |
C |
11: 120,704,339 (GRCm39) |
S1386A |
probably benign |
Het |
| Foxj3 |
A |
T |
4: 119,430,959 (GRCm39) |
N111Y |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,779,440 (GRCm39) |
E772G |
probably damaging |
Het |
| Gpbar1 |
A |
G |
1: 74,318,216 (GRCm39) |
N153S |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,270,077 (GRCm39) |
I2345T |
possibly damaging |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Lce1f |
A |
G |
3: 92,626,652 (GRCm39) |
S2P |
unknown |
Het |
| Lrrk2 |
A |
G |
15: 91,659,177 (GRCm39) |
D1863G |
probably benign |
Het |
| Lurap1 |
T |
C |
4: 116,001,585 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lysmd3 |
A |
G |
13: 81,817,380 (GRCm39) |
E119G |
probably damaging |
Het |
| Map9 |
G |
A |
3: 82,270,642 (GRCm39) |
V69I |
probably benign |
Het |
| Mfsd4b2 |
A |
C |
10: 39,799,791 (GRCm39) |
F37C |
possibly damaging |
Het |
| Moxd1 |
A |
T |
10: 24,099,581 (GRCm39) |
H27L |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,379,722 (GRCm39) |
K1476N |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,777,985 (GRCm39) |
I552T |
probably benign |
Het |
| Or52n2 |
C |
T |
7: 104,542,436 (GRCm39) |
R133Q |
possibly damaging |
Het |
| Prss2 |
T |
C |
6: 41,500,851 (GRCm39) |
V88A |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,159,901 (GRCm39) |
|
probably null |
Het |
| Slc10a4 |
A |
T |
5: 73,169,677 (GRCm39) |
Q434L |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,526,484 (GRCm39) |
T2A |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,651,320 (GRCm39) |
*194W |
probably null |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tagap1 |
A |
G |
17: 7,224,420 (GRCm39) |
V92A |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,465,231 (GRCm39) |
Y320C |
probably damaging |
Het |
| Toporsl |
T |
C |
4: 52,611,469 (GRCm39) |
I454T |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Ubap1l |
T |
C |
9: 65,276,570 (GRCm39) |
V24A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,466,238 (GRCm39) |
S1810T |
probably benign |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,122 (GRCm39) |
I165K |
probably benign |
Het |
| Wnt8b |
A |
G |
19: 44,499,757 (GRCm39) |
T169A |
possibly damaging |
Het |
| Wrap73 |
T |
C |
4: 154,239,099 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
A |
G |
8: 48,317,096 (GRCm39) |
I703T |
unknown |
Het |
| Zfp354a |
T |
A |
11: 50,961,432 (GRCm39) |
C546S |
probably damaging |
Het |
|
| Other mutations in Nfatc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Nfatc2
|
APN |
2 |
168,346,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01728:Nfatc2
|
APN |
2 |
168,378,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02303:Nfatc2
|
APN |
2 |
168,348,821 (GRCm39) |
nonsense |
probably null |
|
|
IGL02887:Nfatc2
|
APN |
2 |
168,346,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03002:Nfatc2
|
APN |
2 |
168,376,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03297:Nfatc2
|
APN |
2 |
168,378,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0347:Nfatc2
|
UTSW |
2 |
168,378,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Nfatc2
|
UTSW |
2 |
168,413,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0631:Nfatc2
|
UTSW |
2 |
168,432,035 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1019:Nfatc2
|
UTSW |
2 |
168,346,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Nfatc2
|
UTSW |
2 |
168,432,008 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1420:Nfatc2
|
UTSW |
2 |
168,346,585 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1977:Nfatc2
|
UTSW |
2 |
168,346,379 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2306:Nfatc2
|
UTSW |
2 |
168,432,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3034:Nfatc2
|
UTSW |
2 |
168,376,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Nfatc2
|
UTSW |
2 |
168,348,914 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3276:Nfatc2
|
UTSW |
2 |
168,348,914 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3964:Nfatc2
|
UTSW |
2 |
168,346,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3966:Nfatc2
|
UTSW |
2 |
168,346,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4669:Nfatc2
|
UTSW |
2 |
168,413,410 (GRCm39) |
missense |
probably benign |
|
|
R4864:Nfatc2
|
UTSW |
2 |
168,378,312 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4951:Nfatc2
|
UTSW |
2 |
168,412,992 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5138:Nfatc2
|
UTSW |
2 |
168,378,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5145:Nfatc2
|
UTSW |
2 |
168,431,987 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5185:Nfatc2
|
UTSW |
2 |
168,412,627 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5444:Nfatc2
|
UTSW |
2 |
168,376,810 (GRCm39) |
intron |
probably benign |
|
|
R5496:Nfatc2
|
UTSW |
2 |
168,378,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5791:Nfatc2
|
UTSW |
2 |
168,378,313 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6102:Nfatc2
|
UTSW |
2 |
168,361,427 (GRCm39) |
intron |
probably benign |
|
|
R6157:Nfatc2
|
UTSW |
2 |
168,361,371 (GRCm39) |
intron |
probably benign |
|
|
R6187:Nfatc2
|
UTSW |
2 |
168,322,158 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7116:Nfatc2
|
UTSW |
2 |
168,349,269 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7218:Nfatc2
|
UTSW |
2 |
168,413,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7470:Nfatc2
|
UTSW |
2 |
168,365,227 (GRCm39) |
nonsense |
probably null |
|
|
R7594:Nfatc2
|
UTSW |
2 |
168,365,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Nfatc2
|
UTSW |
2 |
168,376,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Nfatc2
|
UTSW |
2 |
168,413,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8425:Nfatc2
|
UTSW |
2 |
168,378,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Nfatc2
|
UTSW |
2 |
168,432,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Nfatc2
|
UTSW |
2 |
168,378,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9024:Nfatc2
|
UTSW |
2 |
168,328,648 (GRCm39) |
makesense |
probably null |
|
|
R9442:Nfatc2
|
UTSW |
2 |
168,328,898 (GRCm39) |
intron |
probably benign |
|
|
R9519:Nfatc2
|
UTSW |
2 |
168,412,678 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Nfatc2
|
UTSW |
2 |
168,413,269 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTAAGATGCTGTTTGCGC -3'
(R):5'- AGCTGAACTCTTTACCACATGAGC -3'
Sequencing Primer
(F):5'- TGCTGTTTGCGCGGCAG -3'
(R):5'- TCTTTACCACATGAGCAAGAAGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation