Mutagenetix > Incidental Mutations

Incidental Mutation 'R0631:Nfatc2'

57913

Institutional Source

Beutler Lab

Gene Symbol

Nfatc2

Ensembl Gene

ENSMUSG00000027544

Gene Name

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

Synonyms

NFAT1-D, NFATp, NFAT1

MMRRC Submission

038820-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0631 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

168476410-168601657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 168590115 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 26 (D26V)

Ref Sequence

ENSEMBL: ENSMUSP00000029057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029057] [ENSMUST00000074618] [ENSMUST00000109184] [ENSMUST00000137451] [ENSMUST00000171689]

Predicted Effect

probably benign
Transcript: ENSMUST00000029057
AA Change: D26V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: D26V

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: D26V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: D26V

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

noncoding transcript
Transcript: ENSMUST00000099067

Predicted Effect

probably benign
Transcript: ENSMUST00000109184
AA Change: D26V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: D26V

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

SMART Domains

Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544

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

noncoding transcript
Transcript: ENSMUST00000138546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140137

Predicted Effect

probably benign
Transcript: ENSMUST00000171689

SMART Domains

Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544

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

0.0654

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	T	A	9: 51,101,953	R6S	probably benign	Het
Aadat	T	C	8: 60,529,445		probably benign	Het
Afap1l2	T	C	19: 56,916,085	E594G	probably benign	Het
Ak8	T	G	2: 28,735,665	I240S	probably damaging	Het
Akap13	T	C	7: 75,614,996	V174A	probably damaging	Het
Alppl2	G	A	1: 87,089,373	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,894,879	I36F	probably damaging	Het
Antxrl	T	A	14: 34,058,801		probably null	Het
Arhgef2	G	C	3: 88,634,436	V244L	probably damaging	Het
Arid1a	A	G	4: 133,689,170	I1098T	unknown	Het
Atr	T	C	9: 95,874,777	V903A	possibly damaging	Het
AW549877	A	G	15: 3,986,489		probably benign	Het
B3gnt6	C	A	7: 98,193,692	A354S	probably benign	Het
Bnc1	A	T	7: 81,974,366	I371N	probably damaging	Het
Camsap1	A	T	2: 25,933,647	S1464T	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Cass4	T	C	2: 172,432,411	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,493,752	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,278,459	W266L	probably damaging	Het
Cct6b	C	A	11: 82,737,088		probably null	Het
Cd177	T	C	7: 24,756,686	E219G	probably benign	Het
Cdkal1	A	T	13: 29,354,684	Y497*	probably null	Het
Chmp2a	T	C	7: 13,032,444	E107G	probably damaging	Het
Chrna2	T	G	14: 66,149,308	V301G	probably benign	Het
Chrna7	A	G	7: 63,099,643	C364R	probably benign	Het
Cltc	G	T	11: 86,712,613	L796I	probably benign	Het
Col12a1	T	C	9: 79,703,376	T249A	probably damaging	Het
Col13a1	G	A	10: 61,887,350	Q270*	probably null	Het
Col6a1	C	T	10: 76,709,735	V968M	probably benign	Het
Copb1	C	A	7: 114,233,282	V511F	probably benign	Het
Daw1	C	G	1: 83,197,260	S160R	probably damaging	Het
Ddx46	A	G	13: 55,639,777		probably benign	Het
Depdc7	T	C	2: 104,721,987	K492E	possibly damaging	Het
Dmbt1	C	T	7: 131,097,653	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,240,992	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,651,624	F63I	probably benign	Het
Edc4	C	A	8: 105,890,792	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,884,358	K129M	probably damaging	Het
Emx2	A	G	19: 59,464,028	D248G	probably damaging	Het
Erich6b	T	C	14: 75,659,009		probably benign	Het
Exoc3l4	A	G	12: 111,427,966	K507E	probably benign	Het
Fanci	T	A	7: 79,406,205	V195E	probably damaging	Het
Fgfr2	T	G	7: 130,227,239		probably benign	Het
Frem1	A	G	4: 82,972,165	S1007P	probably damaging	Het
Fry	T	C	5: 150,496,352	I993T	possibly damaging	Het
Fst	A	G	13: 114,454,502	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,010	T103A	probably damaging	Het
Gdf2	C	T	14: 33,941,221	P24L	probably damaging	Het
Gja3	T	C	14: 57,036,762	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,273,076	D74G	unknown	Het
Gm12689	G	T	4: 99,296,021	G37V	unknown	Het
Gm5424	C	T	10: 62,071,534		noncoding transcript	Het
Hephl1	T	C	9: 15,084,524	E434G	probably benign	Het
Htatip2	T	C	7: 49,773,311	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,717,274		probably null	Het
Ints2	T	C	11: 86,233,196	I589V	probably benign	Het
Itgae	T	A	11: 73,114,907	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,509,784		probably benign	Het
Kif11	A	G	19: 37,413,117		probably benign	Het
Kif13a	A	G	13: 46,778,888		probably benign	Het
Kif18a	T	A	2: 109,298,322		probably benign	Het
Klhl29	T	C	12: 5,094,883	T406A	probably benign	Het
Litaf	A	T	16: 10,966,412		probably benign	Het
Lmntd1	T	A	6: 145,430,000	I71F	probably benign	Het
Lrit3	A	C	3: 129,788,555	C594W	probably damaging	Het
Lrp6	T	A	6: 134,479,775	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,540,119		probably benign	Het
Macf1	A	T	4: 123,455,524	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,835,955	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,487,180	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,790,474		probably benign	Het
Mgat4b	T	C	11: 50,230,763	S69P	probably damaging	Het
Mki67	A	T	7: 135,704,388	V620D	probably damaging	Het
Moxd1	C	T	10: 24,252,954	T201I	probably damaging	Het
Msh4	G	C	3: 153,866,420	D774E	probably benign	Het
Myg1	C	T	15: 102,331,849	R37C	probably benign	Het
Myrf	C	A	19: 10,228,882	A57S	probably benign	Het
Ndst1	G	A	18: 60,700,359		probably benign	Het
Nedd4l	A	T	18: 65,208,503		probably benign	Het
Neil2	T	A	14: 63,183,400	I281F	possibly damaging	Het
Nt5c	A	G	11: 115,490,714		probably null	Het
Olfr1095	T	C	2: 86,850,967	T244A	probably benign	Het
Olfr1369-ps1	G	T	13: 21,115,908	C72F	probably damaging	Het
Olfr202	A	G	16: 59,284,207	C97R	possibly damaging	Het
Olfr372	T	A	8: 72,058,322	I214N	probably damaging	Het
Olfr538	T	G	7: 140,574,507	M118R	probably damaging	Het
Ovch2	A	G	7: 107,782,021	S557P	probably benign	Het
Pik3cg	A	G	12: 32,205,203	S262P	probably benign	Het
Pla2g6	T	A	15: 79,306,396	H322L	probably damaging	Het
Plch1	A	T	3: 63,699,219	L1079Q	probably benign	Het
Plekhg4	T	A	8: 105,379,302	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,112,419	D747G	possibly damaging	Het
Poln	C	A	5: 34,118,958	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,025,754	S272T	probably benign	Het
Ppp1r3e	T	G	14: 54,876,616	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,710,182	P135S	probably benign	Het
Ptgs2	G	A	1: 150,104,537	V409I	probably benign	Het
Ptk2b	T	C	14: 66,177,751	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,221,989	I84T	probably damaging	Het
Rab44	A	G	17: 29,139,144	D102G	possibly damaging	Het
Rnf125	A	T	18: 20,979,083	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,560,024	F392L	probably damaging	Het
Rttn	A	G	18: 88,989,546	N435S	probably benign	Het
Scn8a	A	G	15: 101,035,537	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,285,123		probably benign	Het
Sgsm3	A	T	15: 81,011,736	*751C	probably null	Het
Slc35c2	A	C	2: 165,280,929	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382	E396V	probably damaging	Het
Smarca4	G	C	9: 21,658,984		probably benign	Het
Snapc3	T	A	4: 83,417,802	V17D	probably damaging	Het
Snta1	G	T	2: 154,377,072	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,739,986	D1334G	probably benign	Het
Stard5	A	G	7: 83,632,757	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,784,358	N731I	probably benign	Het
Tmem135	T	A	7: 89,143,788	K413*	probably null	Het
Tmem38a	G	A	8: 72,580,018	V114I	probably benign	Het
Tpr	A	G	1: 150,422,531	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,539,980	L139Q	probably damaging	Het
Ttn	T	A	2: 76,755,296		probably null	Het
Tuba3b	A	G	6: 145,619,576	T257A	probably damaging	Het
Tubgcp6	A	C	15: 89,100,987	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,671,573		probably benign	Het
Unc13b	A	G	4: 43,182,849	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 86,163,270	S514C	probably null	Het
Whrn	G	A	4: 63,419,489	T545I	probably damaging	Het
Zdhhc20	T	C	14: 57,857,640	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,645,290	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,537,302	H290L	possibly damaging	Het
Zfpm1	C	T	8: 122,336,874		probably benign	Het

Other mutations in Nfatc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Nfatc2	APN	2	168504890	missense	probably damaging	1.00
IGL01728:Nfatc2	APN	2	168536242	missense	probably damaging	1.00
IGL02303:Nfatc2	APN	2	168506901	nonsense	probably null
IGL02887:Nfatc2	APN	2	168504450	missense	probably damaging	1.00
IGL03002:Nfatc2	APN	2	168534984	missense	probably damaging	1.00
IGL03297:Nfatc2	APN	2	168536218	missense	probably damaging	0.99
R0347:Nfatc2	UTSW	2	168536290	missense	probably damaging	1.00
R0590:Nfatc2	UTSW	2	168571199	missense	probably damaging	0.99
R1019:Nfatc2	UTSW	2	168504879	missense	probably damaging	1.00
R1183:Nfatc2	UTSW	2	168590088	missense	possibly damaging	0.83
R1420:Nfatc2	UTSW	2	168504665	missense	probably benign	0.01
R1977:Nfatc2	UTSW	2	168504459	missense	possibly damaging	0.68
R2306:Nfatc2	UTSW	2	168590103	missense	probably damaging	1.00
R3034:Nfatc2	UTSW	2	168535020	missense	probably damaging	1.00
R3176:Nfatc2	UTSW	2	168506994	missense	possibly damaging	0.51
R3276:Nfatc2	UTSW	2	168506994	missense	possibly damaging	0.51
R3964:Nfatc2	UTSW	2	168504549	missense	probably benign	0.00
R3966:Nfatc2	UTSW	2	168504549	missense	probably benign	0.00
R4669:Nfatc2	UTSW	2	168571490	missense	probably benign
R4864:Nfatc2	UTSW	2	168536392	missense	probably damaging	0.96
R4951:Nfatc2	UTSW	2	168571072	missense	probably damaging	0.98
R5138:Nfatc2	UTSW	2	168536309	missense	probably damaging	1.00
R5145:Nfatc2	UTSW	2	168590067	missense	probably benign	0.25
R5185:Nfatc2	UTSW	2	168570707	missense	possibly damaging	0.48
R5444:Nfatc2	UTSW	2	168534890	intron	probably benign
R5496:Nfatc2	UTSW	2	168536278	missense	probably damaging	1.00
R5728:Nfatc2	UTSW	2	168480249	missense	probably benign
R5791:Nfatc2	UTSW	2	168536393	missense	probably benign	0.28
R6102:Nfatc2	UTSW	2	168519507	intron	probably benign
R6157:Nfatc2	UTSW	2	168519451	intron	probably benign
R6187:Nfatc2	UTSW	2	168480238	missense	probably benign	0.13
R7116:Nfatc2	UTSW	2	168507349	missense	probably benign	0.04
R7218:Nfatc2	UTSW	2	168571264	missense	probably benign	0.01
R7470:Nfatc2	UTSW	2	168523307	nonsense	probably null
R7594:Nfatc2	UTSW	2	168523348	missense	probably damaging	1.00
R7618:Nfatc2	UTSW	2	168534999	missense	probably damaging	1.00
R7653:Nfatc2	UTSW	2	168571145	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTGACCCTCAACCTCCTGGAAATC -3'
(R):5'- ACAGACACTTTGGCATGAGCCATAG -3'

Sequencing Primer
(F):5'- ACCTCCTGGAAATCTCCCC -3'
(R):5'- GCAGGCAACAGCTTCTGAC -3'

Posted On

2013-07-11