Incidental Mutation 'R5145:Nfatc2'
| ID |
395074 |
| 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 |
042729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5145 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 168431987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 42
(I42S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029057]
[ENSMUST00000074618]
[ENSMUST00000109184]
[ENSMUST00000137451]
[ENSMUST00000171689]
|
| AlphaFold |
Q60591 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029057
AA Change: I42S
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: I42S
| 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 |
2.6e-24 |
PFAM |
|
Blast:IPT
|
579 |
618 |
8e-19 |
BLAST |
|
SCOP:d1imhc1
|
579 |
619 |
3e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074618
AA Change: I42S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: I42S
| 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 |
noncoding transcript
Transcript: ENSMUST00000099067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109184
AA Change: I42S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: I42S
| 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 |
probably benign
Transcript: ENSMUST00000137451
|
| SMART Domains |
Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
263 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
392 |
552 |
7.9e-25 |
PFAM |
|
Blast:IPT
|
559 |
598 |
8e-19 |
BLAST |
|
SCOP:d1imhc1
|
559 |
599 |
2e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140137
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171689
|
| SMART Domains |
Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
62 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
191 |
351 |
1.3e-24 |
PFAM |
|
Blast:IPT
|
358 |
397 |
4e-19 |
BLAST |
|
SCOP:d1imhc1
|
358 |
398 |
1e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
G |
A |
15: 11,285,962 (GRCm39) |
G724R |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,562,682 (GRCm39) |
I552L |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,943 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,613,582 (GRCm39) |
T88A |
probably benign |
Het |
| Col6a5 |
T |
G |
9: 105,811,444 (GRCm39) |
I692L |
unknown |
Het |
| Cry2 |
T |
C |
2: 92,243,405 (GRCm39) |
I479V |
probably benign |
Het |
| Ddx21 |
T |
C |
10: 62,423,318 (GRCm39) |
|
probably null |
Het |
| Efcab12 |
T |
A |
6: 115,800,238 (GRCm39) |
I262F |
probably damaging |
Het |
| Eif2ak2 |
T |
C |
17: 79,183,633 (GRCm39) |
D72G |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,293,689 (GRCm39) |
F461L |
probably damaging |
Het |
| Gm38706 |
G |
A |
6: 130,460,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
C |
T |
17: 22,226,107 (GRCm39) |
C59Y |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,263 (GRCm39) |
E79G |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mfsd2b |
T |
A |
12: 4,915,908 (GRCm39) |
|
probably benign |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Npy6r |
C |
T |
18: 44,409,686 (GRCm39) |
T369I |
probably benign |
Het |
| Or7a36 |
A |
G |
10: 78,820,143 (GRCm39) |
E173G |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,017,304 (GRCm39) |
S624P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,377,169 (GRCm39) |
V441A |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,860 (GRCm39) |
D2193E |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,017,397 (GRCm39) |
|
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,906 (GRCm39) |
|
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,738,259 (GRCm39) |
V179A |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,762 (GRCm39) |
Y617C |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,936,966 (GRCm39) |
S1361C |
probably damaging |
Het |
| Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
| Tti1 |
G |
A |
2: 157,850,432 (GRCm39) |
A269V |
probably benign |
Het |
| Ugt2a1 |
A |
G |
5: 87,633,886 (GRCm39) |
|
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,761 (GRCm39) |
T730A |
possibly 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 |
|
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'- TGACAGTGACCCTCAACCTC -3'
(R):5'- AGAAGTTGTCTGGGCCTGTC -3'
Sequencing Primer
(F):5'- GTGACCCTCAACCTCCTGGAAATC -3'
(R):5'- ACAGATACGGTGACCCCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation