Incidental Mutation 'R7594:Nfatc2'
| ID |
587602 |
| 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 |
045670-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7594 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168365268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 582
(V582A)
|
| 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: V582A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: V582A
| 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: V582A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: V582A
| 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: V582A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: V582A
| 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: V562A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: V562A
| 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: V361A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: V361A
| 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: 98.9%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Acsm3 |
A |
G |
7: 119,384,213 (GRCm39) |
|
probably null |
Het |
| Acvr2a |
T |
A |
2: 48,784,749 (GRCm39) |
L345* |
probably null |
Het |
| App |
T |
C |
16: 84,876,890 (GRCm39) |
D167G |
unknown |
Het |
| Arhgef33 |
A |
G |
17: 80,677,734 (GRCm39) |
D427G |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,288,875 (GRCm39) |
S1675P |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,808,935 (GRCm39) |
Y985C |
|
Het |
| AW209491 |
A |
G |
13: 14,811,831 (GRCm39) |
D228G |
probably benign |
Het |
| Casc3 |
G |
A |
11: 98,712,311 (GRCm39) |
A117T |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,271,568 (GRCm39) |
P645S |
probably benign |
Het |
| Ccar2 |
A |
T |
14: 70,379,243 (GRCm39) |
Y553* |
probably null |
Het |
| Cox16 |
A |
T |
12: 81,521,352 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
T |
19: 37,151,551 (GRCm39) |
V275E |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,316,905 (GRCm39) |
V634A |
probably benign |
Het |
| Dnajb1 |
G |
A |
8: 84,336,473 (GRCm39) |
S81N |
probably benign |
Het |
| Dst |
A |
G |
1: 34,252,094 (GRCm39) |
K2262E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,422,136 (GRCm39) |
V237A |
probably benign |
Het |
| Fbxo31 |
T |
A |
8: 122,279,107 (GRCm39) |
D460V |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,830,885 (GRCm39) |
C33R |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,632,443 (GRCm39) |
N168K |
possibly damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm10134 |
T |
C |
2: 28,396,372 (GRCm39) |
M89T |
unknown |
Het |
| Kif17 |
T |
C |
4: 138,005,236 (GRCm39) |
L267P |
probably damaging |
Het |
| Ksr2 |
C |
A |
5: 117,693,131 (GRCm39) |
T193N |
possibly damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,110,564 (GRCm39) |
L428P |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,696,359 (GRCm39) |
L1247F |
probably benign |
Het |
| Med24 |
T |
C |
11: 98,605,923 (GRCm39) |
Y323C |
probably damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,283,665 (GRCm39) |
V339A |
probably benign |
Het |
| Mtus2 |
G |
T |
5: 148,014,216 (GRCm39) |
R336S |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,556,358 (GRCm39) |
T3312A |
unknown |
Het |
| Nacad |
A |
G |
11: 6,552,457 (GRCm39) |
S245P |
probably damaging |
Het |
| Nacc1 |
T |
C |
8: 85,401,631 (GRCm39) |
D394G |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,818,791 (GRCm39) |
D428E |
probably benign |
Het |
| Or10ag57 |
A |
G |
2: 87,218,613 (GRCm39) |
H188R |
probably damaging |
Het |
| Or4a80 |
T |
A |
2: 89,582,906 (GRCm39) |
T89S |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,880 (GRCm39) |
L3S |
probably benign |
Het |
| Osbpl5 |
A |
T |
7: 143,247,534 (GRCm39) |
L768Q |
probably benign |
Het |
| Plch2 |
C |
T |
4: 155,091,484 (GRCm39) |
V210I |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,123,277 (GRCm39) |
T1153I |
possibly damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,670 (GRCm39) |
S2P |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,286 (GRCm39) |
I69N |
probably damaging |
Het |
| Psmd5 |
G |
T |
2: 34,750,741 (GRCm39) |
H239Q |
probably benign |
Het |
| Ptcd2 |
C |
A |
13: 99,456,790 (GRCm39) |
A345S |
possibly damaging |
Het |
| Sap30l |
G |
A |
11: 57,700,947 (GRCm39) |
|
probably null |
Het |
| Sec14l2 |
A |
G |
11: 4,061,213 (GRCm39) |
Y83H |
probably damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,508,634 (GRCm39) |
I470T |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,165,190 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,601,432 (GRCm39) |
D1766E |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,511,473 (GRCm39) |
E259G |
probably benign |
Het |
| Tlr6 |
T |
C |
5: 65,110,594 (GRCm39) |
Y771C |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,508 (GRCm39) |
V670E |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,428,587 (GRCm38) |
T1522A |
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,694,595 (GRCm39) |
M158T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,557,186 (GRCm39) |
I29940V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,581,698 (GRCm39) |
T23065I |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,173,779 (GRCm39) |
S20G |
probably benign |
Het |
| Uts2r |
G |
T |
11: 121,052,191 (GRCm39) |
V352F |
possibly damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,342 (GRCm39) |
M202K |
possibly damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,580,635 (GRCm39) |
V524A |
probably benign |
Het |
| Zc3h12d |
C |
A |
10: 7,738,382 (GRCm39) |
D229E |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,311 (GRCm39) |
D116G |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,675,793 (GRCm39) |
E464G |
possibly 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 |
|
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 |
|
|
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'- ACAGTGATCTACGTGGCTGC -3'
(R):5'- ATGGTATCTGATAGCCACCAAAGC -3'
Sequencing Primer
(F):5'- GGAAGTTACCCAGTAGGCTG -3'
(R):5'- GCAAACTGGCTTTTCCAAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation