Incidental Mutation 'R3966:Nfatc2'
ID |
312339 |
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 |
040935-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3966 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 168346469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 875
(S875N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074618]
[ENSMUST00000109184]
|
AlphaFold |
Q60591 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074618
AA Change: S875N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000074198 Gene: ENSMUSG00000027544 AA Change: S875N
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
AA Change: S875N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000104812 Gene: ENSMUSG00000027544 AA Change: S875N
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
|
Meta Mutation Damage Score |
0.0693 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
96% (47/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
T |
C |
1: 89,762,183 (GRCm39) |
I371T |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,845,730 (GRCm39) |
T731I |
probably damaging |
Het |
C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
C3 |
A |
G |
17: 57,525,664 (GRCm39) |
V864A |
probably damaging |
Het |
Cadps |
A |
T |
14: 12,522,161 (GRCm38) |
|
probably null |
Het |
Cemip |
T |
A |
7: 83,600,717 (GRCm39) |
Y968F |
probably benign |
Het |
Ces1g |
C |
A |
8: 94,055,139 (GRCm39) |
R186L |
possibly damaging |
Het |
Chd2 |
A |
G |
7: 73,114,143 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
T |
C |
13: 73,764,091 (GRCm39) |
Y404H |
probably damaging |
Het |
CN725425 |
T |
A |
15: 91,126,890 (GRCm39) |
|
probably null |
Het |
Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
E330034G19Rik |
G |
T |
14: 24,356,939 (GRCm39) |
M158I |
unknown |
Het |
Ehbp1l1 |
C |
T |
19: 5,760,601 (GRCm39) |
|
probably null |
Het |
Gm14137 |
T |
A |
2: 119,005,497 (GRCm39) |
S19T |
probably benign |
Het |
Gpr141b |
A |
G |
13: 19,913,614 (GRCm39) |
|
noncoding transcript |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Inhbb |
C |
A |
1: 119,345,291 (GRCm39) |
G333W |
probably damaging |
Het |
Kcnb1 |
C |
T |
2: 166,946,412 (GRCm39) |
C812Y |
probably damaging |
Het |
Kdm4c |
A |
G |
4: 74,216,820 (GRCm39) |
D193G |
probably damaging |
Het |
Mbd5 |
A |
T |
2: 49,162,082 (GRCm39) |
I855L |
possibly damaging |
Het |
Mcpt1 |
G |
A |
14: 56,256,503 (GRCm39) |
V80M |
probably benign |
Het |
Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
Megf10 |
A |
G |
18: 57,313,646 (GRCm39) |
D30G |
probably damaging |
Het |
Ms4a6b |
T |
C |
19: 11,499,098 (GRCm39) |
S71P |
probably benign |
Het |
Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,376,161 (GRCm39) |
|
probably benign |
Het |
Myrf |
T |
C |
19: 10,196,979 (GRCm39) |
E267G |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,235,583 (GRCm39) |
T624A |
probably damaging |
Het |
Nfat5 |
G |
T |
8: 108,093,921 (GRCm39) |
A721S |
possibly damaging |
Het |
Npm1 |
C |
T |
11: 33,110,350 (GRCm39) |
G148D |
probably benign |
Het |
Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
Nucb2 |
A |
G |
7: 116,128,110 (GRCm39) |
E273G |
probably damaging |
Het |
Prkd1 |
C |
T |
12: 50,439,724 (GRCm39) |
E368K |
probably benign |
Het |
Ptgs2 |
T |
A |
1: 149,981,226 (GRCm39) |
I503N |
probably damaging |
Het |
Qrfpr |
A |
G |
3: 36,235,149 (GRCm39) |
S243P |
possibly damaging |
Het |
Safb2 |
T |
C |
17: 56,882,356 (GRCm39) |
S426G |
probably null |
Het |
Sos1 |
C |
T |
17: 80,762,608 (GRCm39) |
R73H |
probably damaging |
Het |
Spink10 |
T |
C |
18: 62,790,975 (GRCm39) |
I87T |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,193,418 (GRCm39) |
S339P |
possibly damaging |
Het |
Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
Tmx4 |
T |
C |
2: 134,441,981 (GRCm39) |
I206V |
possibly damaging |
Het |
Tom1 |
A |
G |
8: 75,785,867 (GRCm39) |
K360E |
probably benign |
Het |
Trp73 |
A |
G |
4: 154,146,493 (GRCm39) |
V422A |
probably benign |
Het |
Vmn2r33 |
T |
C |
7: 7,557,168 (GRCm39) |
M511V |
probably benign |
Het |
Zfp628 |
T |
C |
7: 4,924,744 (GRCm39) |
S989P |
probably benign |
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 |
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 |
R5728:Nfatc2
|
UTSW |
2 |
168,322,169 (GRCm39) |
missense |
probably benign |
|
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'- CCCTCAAGTTAAAATGGAGGTACG -3'
(R):5'- AGAAGCAAGAGCCTGAGTCC -3'
Sequencing Primer
(F):5'- TTAAAATGGAGGTACGGAGGC -3'
(R):5'- CATGCTGGTTCTCAGGGGC -3'
|
Posted On |
2015-04-29 |