Incidental Mutation 'R9519:Nfatc2'
ID |
718743 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9519 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 168412678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 336
(T336A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029057]
[ENSMUST00000074618]
[ENSMUST00000109184]
[ENSMUST00000137451]
[ENSMUST00000171689]
|
AlphaFold |
Q60591 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029057
AA Change: T336A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029057 Gene: ENSMUSG00000027544 AA Change: T336A
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: T336A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074198 Gene: ENSMUSG00000027544 AA Change: T336A
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: T336A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104812 Gene: ENSMUSG00000027544 AA Change: T336A
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
AA Change: T316A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118329 Gene: ENSMUSG00000027544 AA Change: T316A
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 |
probably benign
Transcript: ENSMUST00000171689
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130875 Gene: ENSMUSG00000027544 AA Change: T115A
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
C |
5: 77,030,572 (GRCm39) |
E676G |
probably benign |
Het |
Aatk |
G |
A |
11: 119,912,309 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,207,681 (GRCm39) |
V20A |
probably benign |
Het |
Abcc3 |
A |
G |
11: 94,264,805 (GRCm39) |
V181A |
possibly damaging |
Het |
Alkbh2 |
T |
C |
5: 114,265,794 (GRCm39) |
K3E |
probably benign |
Het |
Aox1 |
A |
C |
1: 58,373,926 (GRCm39) |
K862N |
probably damaging |
Het |
Arap1 |
G |
A |
7: 101,043,946 (GRCm39) |
|
probably benign |
Het |
Arid2 |
A |
G |
15: 96,186,948 (GRCm39) |
N67D |
possibly damaging |
Het |
Atxn1l |
C |
T |
8: 110,458,688 (GRCm39) |
V525M |
probably damaging |
Het |
Bcan |
C |
G |
3: 87,902,964 (GRCm39) |
E271D |
probably damaging |
Het |
Bcan |
T |
C |
3: 87,902,968 (GRCm39) |
E270G |
probably benign |
Het |
Bcan |
C |
A |
3: 87,902,967 (GRCm39) |
E270D |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,546,290 (GRCm38) |
H522R |
possibly damaging |
Het |
Dll3 |
A |
G |
7: 27,995,764 (GRCm39) |
S346P |
probably damaging |
Het |
Epha3 |
T |
A |
16: 63,472,668 (GRCm39) |
T406S |
possibly damaging |
Het |
Far1 |
A |
G |
7: 113,150,559 (GRCm39) |
R296G |
probably benign |
Het |
Flot1 |
T |
G |
17: 36,136,363 (GRCm39) |
V172G |
possibly damaging |
Het |
Gm973 |
A |
G |
1: 59,580,611 (GRCm39) |
M165V |
probably benign |
Het |
Golm1 |
T |
C |
13: 59,792,914 (GRCm39) |
H197R |
probably benign |
Het |
Gpr85 |
T |
C |
6: 13,836,998 (GRCm39) |
|
probably benign |
Het |
Herc1 |
A |
G |
9: 66,307,356 (GRCm39) |
K1017E |
probably damaging |
Het |
Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
Jmjd1c |
A |
G |
10: 66,993,798 (GRCm39) |
D93G |
possibly damaging |
Het |
Kcnn4 |
T |
A |
7: 24,081,941 (GRCm39) |
V363E |
probably damaging |
Het |
Kif9 |
A |
G |
9: 110,350,344 (GRCm39) |
D745G |
probably damaging |
Het |
Lipm |
T |
C |
19: 34,090,392 (GRCm39) |
M191T |
probably benign |
Het |
Ltbp1 |
C |
T |
17: 75,692,190 (GRCm39) |
R1603C |
probably damaging |
Het |
Ms4a13 |
C |
G |
19: 11,147,332 (GRCm39) |
S194T |
unknown |
Het |
Muc16 |
A |
T |
9: 18,498,216 (GRCm39) |
I6577N |
probably benign |
Het |
Nlrp9c |
T |
A |
7: 26,085,302 (GRCm39) |
K92N |
possibly damaging |
Het |
Or1p1b |
A |
T |
11: 74,130,827 (GRCm39) |
T146S |
probably benign |
Het |
Or51a10 |
C |
A |
7: 103,698,636 (GRCm39) |
M308I |
probably benign |
Het |
Parp16 |
T |
A |
9: 65,137,222 (GRCm39) |
Y149* |
probably null |
Het |
Pdgfra |
A |
T |
5: 75,337,350 (GRCm39) |
T463S |
probably benign |
Het |
Peg3 |
T |
C |
7: 6,714,394 (GRCm39) |
E276G |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,213,403 (GRCm39) |
V110A |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,520,961 (GRCm39) |
Y737C |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sds |
T |
A |
5: 120,619,610 (GRCm39) |
L173Q |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Slc8a3 |
A |
T |
12: 81,362,326 (GRCm39) |
D164E |
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,395,770 (GRCm39) |
N607I |
probably damaging |
Het |
Smarce1 |
A |
T |
11: 99,104,933 (GRCm39) |
I248K |
probably benign |
Het |
Smg7 |
G |
T |
1: 152,735,196 (GRCm39) |
T213K |
probably damaging |
Het |
Snrnp70 |
C |
T |
7: 45,036,875 (GRCm39) |
D90N |
probably benign |
Het |
Snx20 |
A |
G |
8: 89,354,400 (GRCm39) |
V110A |
possibly damaging |
Het |
Snx25 |
A |
G |
8: 46,486,783 (GRCm39) |
V986A |
probably damaging |
Het |
Soat1 |
T |
C |
1: 156,259,779 (GRCm39) |
K521E |
probably benign |
Het |
Speg |
C |
T |
1: 75,392,380 (GRCm39) |
T1679M |
probably damaging |
Het |
Stoml3 |
T |
A |
3: 53,405,402 (GRCm39) |
F28I |
probably benign |
Het |
Sult1d1 |
A |
T |
5: 87,704,721 (GRCm39) |
M256K |
probably damaging |
Het |
Tiam1 |
T |
C |
16: 89,608,822 (GRCm39) |
E1064G |
probably benign |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Zfp790 |
C |
A |
7: 29,522,567 (GRCm39) |
H3N |
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 |
|
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 |
|
Z1176:Nfatc2
|
UTSW |
2 |
168,413,269 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCATCGACAGCTCTCAAAG -3'
(R):5'- AGAGGCTTTGGTTGCTCCTC -3'
Sequencing Primer
(F):5'- GCCCCCACTCACCTGCAG -3'
(R):5'- GGTTGCTCCTCTGCCCG -3'
|
Posted On |
2022-07-18 |