Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00234:Nfatc2'

2478

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfatc2

Ensembl Gene

ENSMUSG00000027544

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2

Synonyms

NFAT1, NFAT1-D, NFATp

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00234

Quality Score

Status

Chromosome

Chromosomal Location

168318330-168443577 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 168346810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 761 (S761R)

Ref Sequence

ENSEMBL: ENSMUSP00000104812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074618] [ENSMUST00000109184]

AlphaFold

Q60591

Predicted Effect

probably damaging
Transcript: ENSMUST00000074618
AA Change: S761R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: S761R

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: S761R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: S761R

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

noncoding transcript
Transcript: ENSMUST00000151292

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl4	T	C	17: 34,000,242 (GRCm39)	N42S	probably damaging	Het
Apoc4	A	T	7: 19,412,665 (GRCm39)	S27T	probably benign	Het
Atp13a3	T	A	16: 30,170,097 (GRCm39)	Q363L	probably damaging	Het
Cfap69	A	G	5: 5,667,295 (GRCm39)	Y417H	probably benign	Het
Cry1	A	G	10: 84,982,698 (GRCm39)	S243P	probably benign	Het
Epb41l2	A	G	10: 25,377,734 (GRCm39)	T116A	probably damaging	Het
Foxb1	A	G	9: 69,667,480 (GRCm39)	S17P	probably damaging	Het
Glb1l3	A	T	9: 26,764,967 (GRCm39)	L148H	probably damaging	Het
Hnrnpk	T	C	13: 58,543,111 (GRCm39)		probably benign	Het
Icam5	G	A	9: 20,948,091 (GRCm39)		probably null	Het
Lats1	A	G	10: 7,567,330 (GRCm39)	I34V	probably damaging	Het
Lipc	A	T	9: 70,727,719 (GRCm39)	Y43N	possibly damaging	Het
Maml3	A	G	3: 51,598,125 (GRCm39)	I207T	probably benign	Het
Nubp1	G	A	16: 10,240,703 (GRCm39)	G280S	probably damaging	Het
Or4d2	T	G	11: 87,784,191 (GRCm39)	R186S	possibly damaging	Het
Pabpc4	A	G	4: 123,180,497 (GRCm39)	N73S	probably damaging	Het
Pcsk6	G	A	7: 65,577,568 (GRCm39)	C163Y	probably damaging	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Prune2	T	A	19: 17,145,708 (GRCm39)		probably null	Het
Psmd7	A	G	8: 108,312,342 (GRCm39)	V85A	probably damaging	Het
Rc3h2	A	G	2: 37,279,759 (GRCm39)	V490A	possibly damaging	Het
Sh3tc1	A	C	5: 35,868,301 (GRCm39)	S388A	probably damaging	Het
Trank1	T	C	9: 111,221,677 (GRCm39)	F2805L	probably damaging	Het
Yars2	T	C	16: 16,121,185 (GRCm39)	L113P	probably damaging	Het
Zfp82	G	A	7: 29,765,755 (GRCm39)	S16L	probably damaging	Het

Other mutations in Nfatc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9519:Nfatc2	UTSW	2	168,412,678 (GRCm39)	missense	probably benign
Z1176:Nfatc2	UTSW	2	168,413,269 (GRCm39)	nonsense	probably null

Posted On

2011-12-09