Mutagenetix > Incidental Mutation

Incidental Mutation 'R4864:Nfatc2'

374726

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

042474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

168318330-168443577 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 168378312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 451 (M451T)

Ref Sequence

ENSEMBL: ENSMUSP00000104812 (fasta)

Gene Model

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

AlphaFold

Q60591

Predicted Effect

probably benign
Transcript: ENSMUST00000029057
AA Change: M451T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: M451T

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: M451T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: M451T

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 damaging
Transcript: ENSMUST00000109184
AA Change: M451T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544
AA Change: M451T

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

possibly damaging
Transcript: ENSMUST00000137451
AA Change: M431T

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: M431T

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: ENSMUST00000140137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151292

Predicted Effect

probably benign
Transcript: ENSMUST00000171689
AA Change: M230T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: M230T

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

0.0730

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Acp6	T	C	3: 97,066,683 (GRCm39)		probably null	Het
Adora3	T	A	3: 105,815,131 (GRCm39)	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,740,040 (GRCm39)	S538L	probably damaging	Het
Aox3	T	G	1: 58,215,646 (GRCm39)	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgef37	G	A	18: 61,627,996 (GRCm39)	A649V	probably benign	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Bace1	A	T	9: 45,766,109 (GRCm39)	I179F	probably damaging	Het
Brinp1	A	G	4: 68,717,123 (GRCm39)	F242L	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,466,736 (GRCm39)	T148A	probably benign	Het
Cenpc1	T	A	5: 86,193,180 (GRCm39)	L236F	probably damaging	Het
Col13a1	C	T	10: 61,698,439 (GRCm39)	E541K	unknown	Het
Copg1	T	A	6: 87,866,678 (GRCm39)	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 25,047,595 (GRCm39)	E380G	probably damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dgkd	A	T	1: 87,844,560 (GRCm39)	N242I	possibly damaging	Het
Dnah2	C	T	11: 69,313,416 (GRCm39)	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,411,607 (GRCm39)	K376*	probably null	Het
Eef1d	A	G	15: 75,775,255 (GRCm39)	S135P	possibly damaging	Het
Epc2	T	A	2: 49,427,177 (GRCm39)	S574T	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,455,967 (GRCm39)		probably benign	Het
Exoc5	A	T	14: 49,289,839 (GRCm39)	V13E	probably benign	Het
Fbn1	A	T	2: 125,214,317 (GRCm39)	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,752,392 (GRCm39)	C74S	probably benign	Het
Fbxw9	T	C	8: 85,792,530 (GRCm39)	S322P	probably damaging	Het
Fmo5	T	A	3: 97,553,195 (GRCm39)	I381N	probably damaging	Het
Fmo6	T	C	1: 162,751,964 (GRCm39)	D175G	probably benign	Het
Gm7361	A	G	5: 26,467,008 (GRCm39)		probably null	Het
Gm9961	G	A	16: 11,720,899 (GRCm39)		probably benign	Het
Golga7b	T	A	19: 42,255,405 (GRCm39)		probably null	Het
Gorab	T	C	1: 163,213,967 (GRCm39)	E321G	probably benign	Het
Gpx1	T	A	9: 108,216,594 (GRCm39)	V28E	probably benign	Het
H2-T15	T	A	17: 36,369,253 (GRCm39)		probably benign	Het
H3c14	T	C	3: 96,154,575 (GRCm39)	I125T	probably damaging	Het
Hk1	T	C	10: 62,178,318 (GRCm39)	S8G	probably benign	Het
Iqsec1	C	T	6: 90,641,038 (GRCm39)	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,660,091 (GRCm39)	Y86F	probably benign	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Lamb1	C	T	12: 31,371,005 (GRCm39)	T1400M	probably benign	Het
Lcor	G	T	19: 41,573,803 (GRCm39)	A853S	probably benign	Het
Lrriq3	T	A	3: 154,893,447 (GRCm39)	Y383N	possibly damaging	Het
Map3k21	T	C	8: 126,654,294 (GRCm39)	I371T	probably benign	Het
Mllt1	A	T	17: 57,212,819 (GRCm39)	F105I	probably damaging	Het
Nfkbiz	A	C	16: 55,638,787 (GRCm39)	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,115,088 (GRCm39)	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,778,081 (GRCm39)	Y778H	probably benign	Het
Nup98	C	A	7: 101,802,403 (GRCm39)	A734S	possibly damaging	Het
Or2ag18	T	C	7: 106,405,171 (GRCm39)	Y166C	probably damaging	Het
Or4k2	T	A	14: 50,424,039 (GRCm39)	I212F	probably damaging	Het
Or9g20	A	G	2: 85,630,033 (GRCm39)	Y194H	probably damaging	Het
Or9r7	T	A	10: 129,962,756 (GRCm39)	R57*	probably null	Het
Pate4	A	T	9: 35,519,535 (GRCm39)	C52S	probably damaging	Het
Pecr	C	A	1: 72,316,490 (GRCm39)	A72S	probably benign	Het
Pomt1	A	G	2: 32,142,004 (GRCm39)	N578S	probably benign	Het
Ppm1a	T	C	12: 72,830,738 (GRCm39)	S88P	probably benign	Het
Ppm1l	T	A	3: 69,449,844 (GRCm39)		probably benign	Het
Prdm13	A	G	4: 21,685,543 (GRCm39)	S86P	unknown	Het
Prph2	T	C	17: 47,221,848 (GRCm39)	S76P	probably benign	Het
Sarnp	G	A	10: 128,669,212 (GRCm39)	R23H	probably damaging	Het
Septin1	T	C	7: 126,816,064 (GRCm39)		probably benign	Het
Serpini1	T	C	3: 75,520,481 (GRCm39)	I26T	probably benign	Het
Setdb2	A	G	14: 59,646,715 (GRCm39)	I616T	probably benign	Het
Slc2a10	T	C	2: 165,356,541 (GRCm39)	F67S	probably benign	Het
Slc38a6	T	A	12: 73,390,424 (GRCm39)		probably null	Het
Smg6	T	C	11: 74,820,988 (GRCm39)	S420P	possibly damaging	Het
Srp72	T	A	5: 77,132,009 (GRCm39)	H229Q	probably benign	Het
Ston2	A	G	12: 91,615,448 (GRCm39)	V320A	possibly damaging	Het
Stx3	A	T	19: 11,754,515 (GRCm39)	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,400,843 (GRCm39)		noncoding transcript	Het
Tecpr1	T	A	5: 144,150,935 (GRCm39)	N291I	probably benign	Het
Tmem177	A	G	1: 119,838,553 (GRCm39)	V42A	probably benign	Het
Trim26	T	A	17: 37,168,886 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,196,980 (GRCm39)	S456P	probably benign	Het
Tubgcp6	T	C	15: 88,988,021 (GRCm39)	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,766,872 (GRCm39)	E82G	possibly damaging	Het
Uncx	T	C	5: 139,529,875 (GRCm39)	S43P	probably damaging	Het
Vmn1r1	A	G	1: 181,985,332 (GRCm39)	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,240,907 (GRCm39)	I255V	probably damaging	Het
Vwce	A	G	19: 10,628,000 (GRCm39)	T487A	probably benign	Het
Xaf1	A	G	11: 72,197,682 (GRCm39)		probably benign	Het
Zfp27	G	T	7: 29,594,261 (GRCm39)	P568Q	probably damaging	Het
Zfp382	A	T	7: 29,832,885 (GRCm39)	I179F	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
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

Predicted Primers

PCR Primer
(F):5'- ACGTGGCTCTCATGTTGTTC -3'
(R):5'- CTCTTGTGGCTGCTTTAAAGTC -3'

Sequencing Primer
(F):5'- CTTTGGCTCCAGGGGGATCTC -3'
(R):5'- ATGCCCTAGAACTGGTGTCACAG -3'

Posted On

2016-03-17