Incidental Mutation 'R5185:Nfatc2'
ID |
397799 |
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 |
042764-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5185 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 168412627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 132
(F132L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130875
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029057]
[ENSMUST00000074618]
[ENSMUST00000109184]
[ENSMUST00000137451]
[ENSMUST00000171689]
|
AlphaFold |
Q60591 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029057
AA Change: F353L
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029057 Gene: ENSMUSG00000027544 AA Change: F353L
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 |
possibly damaging
Transcript: ENSMUST00000074618
AA Change: F353L
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000074198 Gene: ENSMUSG00000027544 AA Change: F353L
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 |
possibly damaging
Transcript: ENSMUST00000109184
AA Change: F353L
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104812 Gene: ENSMUSG00000027544 AA Change: F353L
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 |
possibly damaging
Transcript: ENSMUST00000137451
AA Change: F333L
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118329 Gene: ENSMUSG00000027544 AA Change: F333L
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 |
possibly damaging
Transcript: ENSMUST00000171689
AA Change: F132L
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000130875 Gene: ENSMUSG00000027544 AA Change: F132L
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 |
0.0681 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
95% (70/74) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf2 |
T |
C |
11: 94,453,737 (GRCm39) |
Y408C |
probably damaging |
Het |
Aox4 |
T |
C |
1: 58,293,477 (GRCm39) |
L943S |
probably damaging |
Het |
Ap1g1 |
G |
A |
8: 110,589,958 (GRCm39) |
|
probably benign |
Het |
Arsb |
T |
C |
13: 93,930,667 (GRCm39) |
S212P |
probably damaging |
Het |
Arsi |
A |
G |
18: 61,049,984 (GRCm39) |
N289S |
probably damaging |
Het |
Atp6v1h |
T |
A |
1: 5,165,865 (GRCm39) |
F72I |
probably damaging |
Het |
Atxn7 |
T |
C |
14: 14,090,063 (GRCm38) |
I336T |
probably benign |
Het |
Bak1 |
G |
A |
17: 27,241,722 (GRCm39) |
P65L |
possibly damaging |
Het |
Bcl6 |
A |
T |
16: 23,791,697 (GRCm39) |
M219K |
possibly damaging |
Het |
Brd3 |
T |
C |
2: 27,352,460 (GRCm39) |
K157E |
probably damaging |
Het |
Ccdc171 |
T |
G |
4: 83,581,892 (GRCm39) |
S674A |
possibly damaging |
Het |
Cfap43 |
A |
G |
19: 47,768,833 (GRCm39) |
I737T |
probably benign |
Het |
Cul9 |
A |
T |
17: 46,836,758 (GRCm39) |
V1089D |
possibly damaging |
Het |
Dffa |
C |
A |
4: 149,201,887 (GRCm39) |
A155E |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Efcab12 |
T |
A |
6: 115,800,451 (GRCm39) |
M191L |
probably benign |
Het |
Efl1 |
T |
C |
7: 82,421,707 (GRCm39) |
L1018P |
probably damaging |
Het |
Fcho1 |
A |
G |
8: 72,167,600 (GRCm39) |
|
probably benign |
Het |
Fndc3b |
T |
A |
3: 27,511,219 (GRCm39) |
T764S |
probably benign |
Het |
Gm29125 |
T |
C |
1: 80,361,948 (GRCm39) |
|
noncoding transcript |
Het |
Gm5108 |
A |
G |
5: 68,101,953 (GRCm39) |
|
probably benign |
Het |
Gm9949 |
T |
G |
18: 62,313,636 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,695,503 (GRCm39) |
|
probably benign |
Het |
Gpd2 |
T |
C |
2: 57,230,216 (GRCm39) |
Y323H |
probably damaging |
Het |
Grip1 |
T |
G |
10: 119,767,164 (GRCm39) |
D96E |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,532,492 (GRCm39) |
I3132V |
probably benign |
Het |
Hsd17b1 |
T |
C |
11: 100,971,024 (GRCm39) |
W327R |
possibly damaging |
Het |
Htra2 |
G |
A |
6: 83,031,223 (GRCm39) |
P62L |
probably benign |
Het |
Kdr |
A |
T |
5: 76,113,077 (GRCm39) |
|
probably null |
Het |
Kif14 |
T |
A |
1: 136,455,207 (GRCm39) |
C1626* |
probably null |
Het |
Kmt2a |
A |
T |
9: 44,731,543 (GRCm39) |
|
probably benign |
Het |
Krt15 |
T |
C |
11: 100,024,259 (GRCm39) |
T321A |
probably damaging |
Het |
Lactbl1 |
A |
T |
4: 136,358,356 (GRCm39) |
H109L |
probably benign |
Het |
Lilra6 |
T |
A |
7: 3,917,635 (GRCm39) |
H120L |
probably benign |
Het |
Lpcat2 |
G |
A |
8: 93,596,365 (GRCm39) |
S134N |
probably benign |
Het |
Mpp4 |
T |
C |
1: 59,164,742 (GRCm39) |
D465G |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,325,859 (GRCm39) |
D16E |
probably damaging |
Het |
Nek5 |
C |
T |
8: 22,573,397 (GRCm39) |
A520T |
possibly damaging |
Het |
Nlrp3 |
C |
A |
11: 59,455,910 (GRCm39) |
T902N |
probably benign |
Het |
Or10d1b |
A |
T |
9: 39,613,172 (GRCm39) |
W298R |
probably benign |
Het |
Or4c123 |
A |
T |
2: 89,126,731 (GRCm39) |
H294Q |
probably benign |
Het |
Or7e165 |
T |
C |
9: 19,694,672 (GRCm39) |
M81T |
probably damaging |
Het |
Or8h7 |
T |
C |
2: 86,720,946 (GRCm39) |
D191G |
probably benign |
Het |
Pcdhb16 |
T |
C |
18: 37,613,142 (GRCm39) |
S701P |
possibly damaging |
Het |
Phf7 |
A |
G |
14: 30,969,994 (GRCm39) |
|
probably null |
Het |
Plpp4 |
G |
A |
7: 128,918,028 (GRCm39) |
V68M |
probably damaging |
Het |
Pnma2 |
A |
T |
14: 67,153,578 (GRCm39) |
M1L |
possibly damaging |
Het |
Pnma8b |
A |
T |
7: 16,679,901 (GRCm39) |
D295V |
probably damaging |
Het |
Rad21l |
T |
C |
2: 151,499,382 (GRCm39) |
D270G |
probably benign |
Het |
Ralgapa2 |
C |
A |
2: 146,230,406 (GRCm39) |
|
probably null |
Het |
Rasal3 |
A |
T |
17: 32,615,764 (GRCm39) |
L334Q |
probably damaging |
Het |
Rfx4 |
G |
T |
10: 84,699,114 (GRCm39) |
R240L |
probably damaging |
Het |
Rnf19b |
T |
A |
4: 128,977,713 (GRCm39) |
C642* |
probably null |
Het |
Slc28a2 |
G |
A |
2: 122,288,675 (GRCm39) |
E594K |
probably benign |
Het |
Spata31 |
G |
T |
13: 65,065,340 (GRCm39) |
W15L |
possibly damaging |
Het |
Spink5 |
T |
C |
18: 44,148,711 (GRCm39) |
S925P |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,084,534 (GRCm39) |
G1865S |
probably damaging |
Het |
Tg |
T |
C |
15: 66,645,323 (GRCm39) |
L791P |
probably damaging |
Het |
Thbs4 |
A |
C |
13: 92,911,675 (GRCm39) |
V247G |
probably damaging |
Het |
Tpcn2 |
A |
T |
7: 144,809,191 (GRCm39) |
F705Y |
probably damaging |
Het |
Try10 |
A |
T |
6: 41,333,483 (GRCm39) |
H76L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,769,565 (GRCm39) |
V2695I |
probably damaging |
Het |
Tut1 |
C |
A |
19: 8,932,814 (GRCm39) |
T49N |
probably benign |
Het |
Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
Xdh |
G |
A |
17: 74,232,006 (GRCm39) |
R235C |
probably damaging |
Het |
Yipf4 |
A |
G |
17: 74,799,470 (GRCm39) |
D70G |
probably null |
Het |
Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
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 |
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 |
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'- AGAAAACCAGCTCTTAGGGC -3'
(R):5'- AGAGGCTTTGGTTGCTCCTC -3'
Sequencing Primer
(F):5'- AGCTCTTAGGGCACACTCG -3'
(R):5'- TGCAGGACGACAGCATCC -3'
|
Posted On |
2016-07-06 |