Incidental Mutation 'R5138:Nfatc2'
| ID |
396263 |
| 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 |
042724-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5138 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 168378229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 258
(H258Y)
|
| 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: H479Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: H479Y
| 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: H479Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: H479Y
| 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: H479Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: H479Y
| 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: H459Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: H459Y
| 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: H258Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: H258Y
| 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 |
0.9260 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (76/78) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
A |
9: 46,218,119 (GRCm39) |
|
probably null |
Het |
| Actr10 |
G |
A |
12: 71,008,653 (GRCm39) |
G362E |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,057,600 (GRCm39) |
T278A |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 112,008,152 (GRCm39) |
K116M |
probably damaging |
Het |
| Arrdc3 |
T |
C |
13: 81,039,184 (GRCm39) |
Y72H |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,819,649 (GRCm39) |
V2212A |
probably benign |
Het |
| Bcdin3d |
A |
G |
15: 99,368,932 (GRCm39) |
F89S |
possibly damaging |
Het |
| Cacna1d |
C |
A |
14: 30,212,929 (GRCm39) |
A44S |
probably benign |
Het |
| Cbx3 |
A |
G |
6: 51,452,269 (GRCm39) |
E28G |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,148,061 (GRCm39) |
F2722L |
probably damaging |
Het |
| Clec11a |
A |
G |
7: 43,954,062 (GRCm39) |
V297A |
probably benign |
Het |
| Clk2 |
C |
A |
3: 89,082,806 (GRCm39) |
|
probably benign |
Het |
| Clybl |
T |
A |
14: 122,608,716 (GRCm39) |
C103S |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,551,248 (GRCm39) |
N2123Y |
probably damaging |
Het |
| Corin |
G |
A |
5: 72,496,402 (GRCm39) |
P517L |
probably damaging |
Het |
| Ddhd2 |
A |
T |
8: 26,217,726 (GRCm39) |
I717N |
probably damaging |
Het |
| Derl2 |
C |
A |
11: 70,905,390 (GRCm39) |
G31* |
probably null |
Het |
| Dgcr8 |
A |
G |
16: 18,095,941 (GRCm39) |
V523A |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,984,571 (GRCm39) |
S3090P |
probably damaging |
Het |
| Dsp |
C |
A |
13: 38,367,274 (GRCm39) |
H641N |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,379,821 (GRCm39) |
T1590S |
possibly damaging |
Het |
| Duox2 |
A |
T |
2: 122,128,012 (GRCm39) |
L57Q |
probably damaging |
Het |
| Etfdh |
A |
T |
3: 79,530,880 (GRCm39) |
V47D |
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,715,922 (GRCm39) |
Y823H |
probably damaging |
Het |
| Fam81a |
C |
T |
9: 70,006,457 (GRCm39) |
R185K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,811,768 (GRCm39) |
I2696V |
probably benign |
Het |
| Glis1 |
GCACACA |
GCACA |
4: 107,480,302 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,664 (GRCm39) |
N1548K |
probably benign |
Het |
| H3c2 |
G |
A |
13: 23,936,613 (GRCm39) |
R84H |
probably damaging |
Het |
| Hkdc1 |
A |
T |
10: 62,234,470 (GRCm39) |
I575N |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,518,239 (GRCm39) |
I449V |
probably null |
Het |
| Ino80 |
T |
C |
2: 119,213,902 (GRCm39) |
T1223A |
probably damaging |
Het |
| Kctd9 |
T |
C |
14: 67,966,197 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
A |
G |
4: 129,635,647 (GRCm39) |
Y103H |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,707,693 (GRCm39) |
H1752R |
probably damaging |
Het |
| Lrp5 |
T |
A |
19: 3,678,319 (GRCm39) |
Q512L |
probably benign |
Het |
| Map2k5 |
T |
C |
9: 63,170,440 (GRCm39) |
T293A |
probably damaging |
Het |
| Myo7a |
C |
A |
7: 97,732,806 (GRCm39) |
R657L |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,631,963 (GRCm39) |
|
probably null |
Het |
| Nup205 |
T |
A |
6: 35,202,801 (GRCm39) |
L1336Q |
probably damaging |
Het |
| Or10z1 |
A |
G |
1: 174,078,395 (GRCm39) |
S33P |
probably damaging |
Het |
| Or4c113 |
T |
C |
2: 88,885,291 (GRCm39) |
I160V |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,140 (GRCm39) |
M119V |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,899,430 (GRCm39) |
S244T |
possibly damaging |
Het |
| Pcdh17 |
T |
G |
14: 84,684,649 (GRCm39) |
I372S |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,827,556 (GRCm39) |
Y200* |
probably null |
Het |
| Plagl1 |
A |
G |
10: 13,003,919 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,931,115 (GRCm39) |
F910S |
possibly damaging |
Het |
| Prdm13 |
G |
A |
4: 21,679,507 (GRCm39) |
P328S |
unknown |
Het |
| Prdm5 |
C |
T |
6: 65,833,086 (GRCm39) |
Q152* |
probably null |
Het |
| Psat1 |
A |
G |
19: 15,892,312 (GRCm39) |
F216S |
possibly damaging |
Het |
| Psg21 |
A |
T |
7: 18,390,453 (GRCm39) |
M1K |
probably null |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,000 (GRCm39) |
S994T |
probably benign |
Het |
| Rax |
A |
G |
18: 66,071,389 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,099,934 (GRCm39) |
S260R |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,675,175 (GRCm39) |
H3317Q |
probably damaging |
Het |
| Sc5d |
A |
G |
9: 42,166,811 (GRCm39) |
Y243H |
probably damaging |
Het |
| Serpinf1 |
T |
C |
11: 75,305,854 (GRCm39) |
E178G |
probably damaging |
Het |
| Slc15a3 |
A |
T |
19: 10,833,369 (GRCm39) |
Y462F |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,063,534 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
C |
T |
5: 48,439,309 (GRCm39) |
P1111S |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,479,812 (GRCm39) |
Y330H |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,507,205 (GRCm39) |
K204E |
probably benign |
Het |
| Steap1 |
A |
G |
5: 5,786,486 (GRCm39) |
I317T |
probably damaging |
Het |
| Sval2 |
A |
G |
6: 41,838,879 (GRCm39) |
N20S |
probably damaging |
Het |
| Tfrc |
C |
A |
16: 32,434,027 (GRCm39) |
Y85* |
probably null |
Het |
| Tmem87a |
T |
C |
2: 120,202,026 (GRCm39) |
T412A |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,583,239 (GRCm39) |
K2705E |
probably damaging |
Het |
| Vmn1r230 |
A |
T |
17: 21,067,230 (GRCm39) |
K140* |
probably null |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,240 (GRCm39) |
H734Q |
possibly damaging |
Het |
| Zbtb8os |
T |
A |
4: 129,240,719 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
A |
T |
18: 55,024,871 (GRCm39) |
H1466Q |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,450,362 (GRCm39) |
C479Y |
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 |
|
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'- ACTCCAAGATCAGGCAGTGG -3'
(R):5'- GTCATGTGTTCAGCCAGTGGTC -3'
Sequencing Primer
(F):5'- TTAGCCATCCCCTCAACACTG -3'
(R):5'- TTCAGCCAGTGGTCAGACTACAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation