Incidental Mutation 'R5496:Nfatc2'
| ID |
432329 |
| 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 |
043057-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5496 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 168378198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 268
(T268M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029057]
[ENSMUST00000074618]
[ENSMUST00000109184]
[ENSMUST00000137451]
[ENSMUST00000171689]
|
| AlphaFold |
Q60591 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029057
AA Change: T489M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: T489M
| 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 damaging
Transcript: ENSMUST00000074618
AA Change: T489M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: T489M
| 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 damaging
Transcript: ENSMUST00000109184
AA Change: T489M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: T489M
| 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 damaging
Transcript: ENSMUST00000137451
AA Change: T469M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: T469M
| 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: ENSMUST00000140137
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151292
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171689
AA Change: T268M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: T268M
| 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 |
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,724,818 (GRCm39) |
V84I |
probably benign |
Het |
| Adam10 |
T |
G |
9: 70,630,021 (GRCm39) |
F151C |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,187,436 (GRCm39) |
S1617G |
possibly damaging |
Het |
| Ano6 |
T |
A |
15: 95,865,495 (GRCm39) |
|
probably null |
Het |
| Atmin |
A |
G |
8: 117,683,911 (GRCm39) |
T524A |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,721,766 (GRCm39) |
V584I |
probably benign |
Het |
| Carmil1 |
G |
A |
13: 24,339,433 (GRCm39) |
R54C |
probably damaging |
Het |
| Cbln1 |
A |
G |
8: 88,198,324 (GRCm39) |
I127T |
possibly damaging |
Het |
| Ccl26 |
A |
G |
5: 135,592,217 (GRCm39) |
V40A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,976,647 (GRCm39) |
I104N |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,855 (GRCm39) |
I359T |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,509,467 (GRCm39) |
|
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,224,761 (GRCm39) |
E173G |
probably damaging |
Het |
| Cyb561 |
A |
G |
11: 105,828,545 (GRCm39) |
Y94H |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,404,341 (GRCm39) |
K34M |
probably damaging |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,496,927 (GRCm39) |
M3110L |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,956 (GRCm39) |
E434G |
probably damaging |
Het |
| Ebag9 |
T |
G |
15: 44,503,816 (GRCm39) |
*214E |
probably null |
Het |
| Egln3 |
A |
T |
12: 54,250,110 (GRCm39) |
W80R |
probably damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,136,619 (GRCm39) |
Y336H |
probably benign |
Het |
| Gak |
A |
G |
5: 108,724,483 (GRCm39) |
S1076P |
probably benign |
Het |
| Glra1 |
T |
C |
11: 55,418,241 (GRCm39) |
Y168C |
probably damaging |
Het |
| Glrx2 |
T |
A |
1: 143,620,945 (GRCm39) |
M108K |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,519,393 (GRCm39) |
S59T |
possibly damaging |
Het |
| Gm8212 |
A |
T |
14: 44,438,614 (GRCm39) |
|
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,674,507 (GRCm39) |
A457D |
probably damaging |
Het |
| H2-M11 |
T |
C |
17: 36,858,871 (GRCm39) |
F137S |
possibly damaging |
Het |
| Ighv1-55 |
C |
G |
12: 115,172,140 (GRCm39) |
W3S |
probably damaging |
Het |
| Il22 |
T |
G |
10: 118,041,002 (GRCm39) |
V36G |
possibly damaging |
Het |
| Ints1 |
G |
A |
5: 139,740,953 (GRCm39) |
A1904V |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,766,561 (GRCm39) |
Y1481H |
probably damaging |
Het |
| Kcnn3 |
C |
T |
3: 89,516,797 (GRCm39) |
A402V |
possibly damaging |
Het |
| Kif18b |
A |
T |
11: 102,804,568 (GRCm39) |
I362N |
possibly damaging |
Het |
| Kif5c |
C |
G |
2: 49,620,202 (GRCm39) |
A223G |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,922,245 (GRCm39) |
D948G |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,383,290 (GRCm39) |
T229A |
possibly damaging |
Het |
| Leprot |
T |
A |
4: 101,515,093 (GRCm39) |
I113N |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,817,985 (GRCm39) |
D2415G |
probably benign |
Het |
| Mnd1 |
T |
A |
3: 83,995,481 (GRCm39) |
D171V |
probably damaging |
Het |
| Mthfsd |
A |
T |
8: 121,825,553 (GRCm39) |
Y339* |
probably null |
Het |
| Or14j10 |
T |
C |
17: 37,935,469 (GRCm39) |
D19G |
probably benign |
Het |
| Or52d3 |
G |
C |
7: 104,229,701 (GRCm39) |
A283P |
probably damaging |
Het |
| Or8h7 |
G |
T |
2: 86,720,658 (GRCm39) |
P287Q |
probably damaging |
Het |
| Or8h7 |
G |
C |
2: 86,720,659 (GRCm39) |
P287A |
probably damaging |
Het |
| Pan3 |
G |
A |
5: 147,463,938 (GRCm39) |
|
probably null |
Het |
| Pde6a |
A |
T |
18: 61,386,736 (GRCm39) |
|
probably null |
Het |
| Prss39 |
T |
C |
1: 34,539,342 (GRCm39) |
I194T |
possibly damaging |
Het |
| Rfx8 |
T |
C |
1: 39,709,507 (GRCm39) |
S507G |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,988,928 (GRCm39) |
S774P |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Smurf1 |
C |
A |
5: 144,819,403 (GRCm39) |
E601* |
probably null |
Het |
| Stau2 |
T |
C |
1: 16,460,245 (GRCm39) |
S231G |
probably damaging |
Het |
| Timp2 |
T |
G |
11: 118,194,707 (GRCm39) |
M161L |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,801,197 (GRCm39) |
L167P |
probably damaging |
Het |
| Trhr |
G |
A |
15: 44,060,932 (GRCm39) |
A151T |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,957,534 (GRCm39) |
V807A |
probably damaging |
Het |
| Usp2 |
T |
C |
9: 43,996,505 (GRCm39) |
V7A |
possibly damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,589 (GRCm39) |
T447A |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,434,607 (GRCm39) |
I2232T |
unknown |
Het |
| Zfp12 |
C |
A |
5: 143,230,550 (GRCm39) |
C292* |
probably null |
Het |
| Zfp850 |
A |
C |
7: 27,706,771 (GRCm39) |
M43R |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,696,755 (GRCm39) |
T620M |
unknown |
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 |
|
|
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'- ACTCCAAGATCAGGCAGTGG -3'
(R):5'- CATGTGTTCAGCCAGTGGTC -3'
Sequencing Primer
(F):5'- TCAGGCAGTGGCAGCAAAG -3'
(R):5'- TTCAGCCAGTGGTCAGACTACAG -3'
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| Posted On |
2016-10-05 |
Incidental Mutation