Incidental Mutation 'R8791:Nfatc2'
| ID |
670927 |
| 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 |
068609-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8791 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 168378214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 484
(K484E)
|
| 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: K484E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: K484E
| 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: K484E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: K484E
| 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: K484E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: K484E
| 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: K464E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: K464E
| 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: K263E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: K263E
| 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 |
0.2216 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
G |
T |
2: 103,823,022 (GRCm39) |
T87K |
possibly damaging |
Het |
| Adar |
G |
A |
3: 89,643,445 (GRCm39) |
R442Q |
probably benign |
Het |
| Agtr1b |
T |
A |
3: 20,370,280 (GRCm39) |
S109C |
probably damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,499,373 (GRCm39) |
Y248N |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,438,597 (GRCm39) |
V932E |
probably benign |
Het |
| Apba3 |
T |
A |
10: 81,105,104 (GRCm39) |
S126T |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,466,061 (GRCm39) |
S1942T |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,596,552 (GRCm39) |
C20Y |
probably damaging |
Het |
| Cd63 |
C |
A |
10: 128,748,071 (GRCm39) |
N156K |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,429,807 (GRCm39) |
E270G |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,744 (GRCm39) |
Y654C |
probably damaging |
Het |
| Dgki |
A |
T |
6: 36,996,875 (GRCm39) |
D574E |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,517,056 (GRCm39) |
S63G |
probably damaging |
Het |
| Exoc1 |
C |
T |
5: 76,683,412 (GRCm39) |
R46C |
probably damaging |
Het |
| Fcgr4 |
C |
A |
1: 170,847,477 (GRCm39) |
A25D |
probably damaging |
Het |
| Fgf4 |
T |
C |
7: 144,415,408 (GRCm39) |
V56A |
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,714,043 (GRCm39) |
I267V |
probably benign |
Het |
| Gm20939 |
A |
C |
17: 95,184,648 (GRCm39) |
H432P |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,242,739 (GRCm39) |
L35Q |
probably damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Ildr1 |
T |
C |
16: 36,528,762 (GRCm39) |
I69T |
probably damaging |
Het |
| Lrfn1 |
A |
G |
7: 28,159,344 (GRCm39) |
D421G |
probably benign |
Het |
| Mmp15 |
C |
T |
8: 96,096,288 (GRCm39) |
Q360* |
probably null |
Het |
| Nkpd1 |
G |
C |
7: 19,258,095 (GRCm39) |
V625L |
probably benign |
Het |
| Nlrp4a |
C |
A |
7: 26,143,561 (GRCm39) |
|
probably benign |
Het |
| Nme9 |
T |
A |
9: 99,350,301 (GRCm39) |
I178N |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,788,356 (GRCm39) |
T352I |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,686,990 (GRCm39) |
I723V |
probably damaging |
Het |
| Or5p50 |
C |
T |
7: 107,422,557 (GRCm39) |
V40M |
possibly damaging |
Het |
| Pias3 |
C |
A |
3: 96,612,201 (GRCm39) |
Q553K |
probably benign |
Het |
| Pnp2 |
T |
G |
14: 51,200,873 (GRCm39) |
H119Q |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,459,295 (GRCm39) |
D156E |
probably benign |
Het |
| Rint1 |
T |
C |
5: 24,005,594 (GRCm39) |
V92A |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,993 (GRCm39) |
M1K |
probably null |
Het |
| Rnh1 |
C |
T |
7: 140,742,346 (GRCm39) |
R404H |
probably benign |
Het |
| Slc4a8 |
T |
C |
15: 100,705,134 (GRCm39) |
V832A |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,537,678 (GRCm39) |
C167S |
probably benign |
Het |
| Spart |
A |
G |
3: 55,029,100 (GRCm39) |
D297G |
probably benign |
Het |
| Spata13 |
C |
T |
14: 60,929,275 (GRCm39) |
R278C |
probably damaging |
Het |
| Tmc1 |
T |
C |
19: 20,767,209 (GRCm39) |
T716A |
probably benign |
Het |
| Tpi1 |
A |
G |
6: 124,789,483 (GRCm39) |
V164A |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,002 (GRCm39) |
S345G |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,687 (GRCm39) |
L327Q |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,386,748 (GRCm39) |
T124I |
probably benign |
Het |
| Wdr76 |
C |
T |
2: 121,357,484 (GRCm39) |
T180I |
probably benign |
Het |
| Zcchc8 |
T |
C |
5: 123,845,362 (GRCm39) |
N333D |
probably benign |
Het |
| Zfp516 |
T |
C |
18: 82,975,460 (GRCm39) |
S553P |
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 |
|
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 |
|
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'- CACTCCAAGATCAGGCAGTG -3'
(R):5'- CATGTGTTCAGCCAGTGGTC -3'
Sequencing Primer
(F):5'- GATCAGGCAGTGGCAGC -3'
(R):5'- TTCAGCCAGTGGTCAGACTACAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation