Incidental Mutation 'R7618:Nfatc2'
| ID |
588986 |
| 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 |
045685-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 168376919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 545
(R545C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029057]
[ENSMUST00000074618]
[ENSMUST00000109184]
[ENSMUST00000137451]
[ENSMUST00000171689]
|
| AlphaFold |
Q60591 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029057
AA Change: R545C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: R545C
| 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: R545C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: R545C
| 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 damaging
Transcript: ENSMUST00000109184
AA Change: R545C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: R545C
| 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: R525C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: R525C
| 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 damaging
Transcript: ENSMUST00000171689
AA Change: R324C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: R324C
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (51/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,736,300 (GRCm39) |
D1830G |
|
Het |
| Alms1 |
A |
G |
6: 85,655,399 (GRCm39) |
N2846S |
probably benign |
Het |
| Amt |
A |
C |
9: 108,177,077 (GRCm39) |
E228D |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,714,925 (GRCm39) |
M618V |
probably benign |
Het |
| Ankrd60 |
T |
C |
2: 173,412,834 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
A |
G |
6: 48,883,320 (GRCm39) |
T399A |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,386,873 (GRCm39) |
I108F |
probably benign |
Het |
| Arfgef3 |
G |
T |
10: 18,522,029 (GRCm39) |
Q666K |
probably damaging |
Het |
| Bin2 |
T |
A |
15: 100,542,894 (GRCm39) |
R430W |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,893,499 (GRCm39) |
Q222R |
possibly damaging |
Het |
| Cdh18 |
T |
A |
15: 23,367,056 (GRCm39) |
V254D |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,183,155 (GRCm39) |
S159R |
|
Het |
| Clnk |
A |
T |
5: 38,893,698 (GRCm39) |
S220T |
probably benign |
Het |
| Col19a1 |
G |
T |
1: 24,361,165 (GRCm39) |
H608Q |
probably benign |
Het |
| Cplx1 |
C |
T |
5: 108,673,395 (GRCm39) |
E24K |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,577,601 (GRCm39) |
L2031Q |
probably damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,872 (GRCm39) |
E79G |
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,898,429 (GRCm39) |
S902P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,751,199 (GRCm39) |
E183D |
probably benign |
Het |
| Fam124b |
G |
A |
1: 80,191,554 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,690,275 (GRCm39) |
Y1816C |
probably damaging |
Het |
| Ighv5-9-1 |
T |
A |
12: 113,699,819 (GRCm39) |
I98F |
probably damaging |
Het |
| Il31ra |
G |
A |
13: 112,688,514 (GRCm39) |
P21L |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,352,578 (GRCm39) |
I121V |
possibly damaging |
Het |
| Kif11 |
T |
C |
19: 37,400,008 (GRCm39) |
W832R |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,638,772 (GRCm39) |
T490A |
possibly damaging |
Het |
| Lars1 |
G |
T |
18: 42,377,956 (GRCm39) |
A153E |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,421,334 (GRCm39) |
I4275L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,561 (GRCm39) |
C294* |
probably null |
Het |
| Nceh1 |
T |
A |
3: 27,237,366 (GRCm39) |
|
probably null |
Het |
| Ncf1 |
T |
A |
5: 134,256,121 (GRCm39) |
T93S |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,042,009 (GRCm39) |
P545S |
probably benign |
Het |
| Ogfod3 |
C |
A |
11: 121,093,804 (GRCm39) |
V69F |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,180 (GRCm39) |
Y254* |
probably null |
Het |
| Phf12 |
A |
G |
11: 77,916,960 (GRCm39) |
N272S |
unknown |
Het |
| Prkcz |
T |
A |
4: 155,346,939 (GRCm39) |
I581F |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,136,085 (GRCm39) |
H8R |
|
Het |
| Rb1cc1 |
T |
A |
1: 6,335,782 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
T |
A |
19: 7,248,411 (GRCm39) |
M186K |
possibly damaging |
Het |
| Rnf111 |
C |
A |
9: 70,410,614 (GRCm39) |
|
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,534,550 (GRCm39) |
C602W |
possibly damaging |
Het |
| Serinc3 |
A |
T |
2: 163,472,889 (GRCm39) |
F247Y |
possibly damaging |
Het |
| Serpina1c |
T |
A |
12: 103,865,029 (GRCm39) |
I206F |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,797 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
G |
12: 75,992,108 (GRCm39) |
H1993Q |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,407,212 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,410 (GRCm39) |
|
probably null |
Het |
| Ube2ql1 |
G |
T |
13: 69,887,066 (GRCm39) |
Q132K |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,957,547 (GRCm39) |
N803D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,840,342 (GRCm39) |
S1734F |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,707,696 (GRCm39) |
Y2630C |
|
Het |
| Wdr93 |
A |
G |
7: 79,435,474 (GRCm39) |
T668A |
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 |
|
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 |
|
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'- AAACCTGGGCACAGTGTCTG -3'
(R):5'- CAGTTTGTAATGCCCAGGGG -3'
Sequencing Primer
(F):5'- GCACAGTGTCTGCCCTTTGG -3'
(R):5'- CCAGGGGGACATTACAGTTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation