Mutagenetix > Incidental Mutation

Incidental Mutation 'R6187:Nfatc2'

502220

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

044327-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

168318330-168443577 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 168322158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 914 (I914F)

Ref Sequence

ENSEMBL: ENSMUSP00000074198 (fasta)

Gene Model

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

AlphaFold

Q60591

Predicted Effect

probably benign
Transcript: ENSMUST00000074618
AA Change: I914F

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000074198
Gene: ENSMUSG00000027544
AA Change: I914F

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 benign
Transcript: ENSMUST00000109184

SMART Domains

Protein: ENSMUSP00000104812
Gene: ENSMUSG00000027544

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,085 (GRCm39)	L2937H	probably damaging	Het
Abca3	A	G	17: 24,627,141 (GRCm39)	I1281V	possibly damaging	Het
Adam2	A	T	14: 66,306,068 (GRCm39)	S138T	possibly damaging	Het
Adamts4	C	T	1: 171,078,562 (GRCm39)	P61S	probably damaging	Het
Adamts6	C	T	13: 104,433,933 (GRCm39)	P121S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ak1	G	A	2: 32,523,489 (GRCm39)	V186M	probably damaging	Het
Alpk1	T	C	3: 127,466,991 (GRCm39)	Y1096C	probably damaging	Het
Ankrd29	A	C	18: 12,412,747 (GRCm39)	Y73*	probably null	Het
Asah2	A	T	19: 32,002,267 (GRCm39)	S292R	probably damaging	Het
Atp6v1b1	A	T	6: 83,729,377 (GRCm39)	T105S	probably damaging	Het
Axdnd1	T	A	1: 156,193,182 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,461,481 (GRCm39)	S678A	probably damaging	Het
Cdcp3	G	A	7: 130,872,328 (GRCm39)		probably benign	Het
Cenpq	T	A	17: 41,238,089 (GRCm39)	M142L	probably benign	Het
Ciz1	T	A	2: 32,260,063 (GRCm39)	V203E	possibly damaging	Het
Cmklr2	T	C	1: 63,222,434 (GRCm39)	E267G	probably damaging	Het
Col2a1	G	T	15: 97,886,671 (GRCm39)	T378N	unknown	Het
Cyp2c68	A	T	19: 39,729,452 (GRCm39)	S12T	probably benign	Het
Cyp4f18	C	A	8: 72,747,030 (GRCm39)	A322S	probably damaging	Het
Disp2	A	G	2: 118,622,624 (GRCm39)	S1119G	probably damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Faxc	A	G	4: 21,958,445 (GRCm39)	T201A	possibly damaging	Het
Fbxw14	A	G	9: 109,105,332 (GRCm39)	S278P	probably damaging	Het
Fpr1	G	T	17: 18,097,190 (GRCm39)	C266*	probably null	Het
Fsip2	T	C	2: 82,812,798 (GRCm39)	I3039T	probably benign	Het
Gas1	G	T	13: 60,324,186 (GRCm39)	S190R	possibly damaging	Het
Gemin2	A	G	12: 59,060,371 (GRCm39)	T37A	probably damaging	Het
Gm21370	T	C	13: 120,488,403 (GRCm39)	I49V	probably benign	Het
Gm8444	T	C	15: 81,727,807 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,128,936 (GRCm39)	D401G	possibly damaging	Het
Gstk1	G	A	6: 42,226,794 (GRCm39)	V187I	possibly damaging	Het
Hmcn1	T	C	1: 150,506,479 (GRCm39)	D3776G	probably damaging	Het
Itfg1	A	C	8: 86,563,094 (GRCm39)	V102G	probably damaging	Het
Kidins220	A	G	12: 25,101,307 (GRCm39)		probably null	Het
Kif13b	A	C	14: 64,973,664 (GRCm39)	D338A	probably damaging	Het
Mab21l2	T	C	3: 86,454,565 (GRCm39)	Y145C	probably damaging	Het
Magel2	A	G	7: 62,027,389 (GRCm39)	M98V	unknown	Het
Mdfic	T	C	6: 15,721,196 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,473,220 (GRCm39)	I897T	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mycbp2	A	G	14: 103,384,453 (GRCm39)	L3475P	probably damaging	Het
Myh14	G	A	7: 44,276,457 (GRCm39)	T1216I	probably damaging	Het
Nup58	T	C	14: 60,478,256 (GRCm39)		probably null	Het
Or10ag53	T	A	2: 87,083,042 (GRCm39)	S254T	probably damaging	Het
Or10al4	T	C	17: 38,037,032 (GRCm39)	L48P	probably damaging	Het
Or13a22	A	G	7: 140,072,529 (GRCm39)		probably benign	Het
Or2y13	G	T	11: 49,414,338 (GRCm39)		probably benign	Het
Or4l15	A	G	14: 50,198,526 (GRCm39)	M1T	probably null	Het
Or5p50	A	T	7: 107,421,781 (GRCm39)	N298K	probably benign	Het
Or7g20	A	C	9: 18,946,689 (GRCm39)	Q90P	probably benign	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Oxr1	A	G	15: 41,689,315 (GRCm39)	Q513R	probably damaging	Het
Padi1	C	T	4: 140,554,276 (GRCm39)	V310M	probably damaging	Het
Pard3	T	C	8: 127,800,023 (GRCm39)	L11S	probably benign	Het
Pcdhb14	A	T	18: 37,581,497 (GRCm39)	D201V	probably damaging	Het
Pcdhb7	A	G	18: 37,475,622 (GRCm39)	R253G	probably benign	Het
Plxnb2	C	T	15: 89,051,461 (GRCm39)	D253N	probably damaging	Het
Ppp2cb	T	C	8: 34,105,502 (GRCm39)	S171P	probably damaging	Het
Prr5	C	T	15: 84,577,973 (GRCm39)	T94M	probably damaging	Het
Rp1	A	G	1: 4,420,092 (GRCm39)	F340S	probably damaging	Het
Rpa1	C	G	11: 75,201,062 (GRCm39)	G433A	probably benign	Het
Smg1	A	T	7: 117,788,386 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Homo
Svep1	C	T	4: 58,072,872 (GRCm39)	G2146R	probably damaging	Het
Tas2r106	A	G	6: 131,655,173 (GRCm39)	M226T	probably damaging	Het
Tbk1	T	C	10: 121,420,148 (GRCm39)	I14V	probably benign	Het
Tekt4	G	C	17: 25,691,197 (GRCm39)	V168L	probably damaging	Het
Tnfaip1	T	A	11: 78,418,372 (GRCm39)	T232S	probably damaging	Het
Trio	C	T	15: 27,744,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,774,781 (GRCm39)	Y2133F	unknown	Het
Uap1l1	C	T	2: 25,252,741 (GRCm39)	R433H	probably damaging	Het
Ugt2b35	T	C	5: 87,155,181 (GRCm39)	F339L	probably damaging	Het
Unc5b	T	C	10: 60,608,003 (GRCm39)	Y699C	probably damaging	Het
Vcpip1	T	C	1: 9,795,005 (GRCm39)	H1122R	probably damaging	Het
Vmn2r91	T	C	17: 18,326,888 (GRCm39)	V391A	probably benign	Het
Vps13c	C	T	9: 67,822,939 (GRCm39)	R1327W	probably damaging	Het
Yes1	A	G	5: 32,802,385 (GRCm39)	Y100C	probably damaging	Het
Zfp407	A	T	18: 84,577,134 (GRCm39)	N1326K	possibly damaging	Het
Zfp518a	G	A	19: 40,903,890 (GRCm39)	C1273Y	probably benign	Het
Zfr	AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA	AGCAGCAGCA	15: 12,146,317 (GRCm39)		probably benign	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
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'- GGACAACGGCTAAGATGCTG -3'
(R):5'- CTCTTTACCACATGAGCAAGAAG -3'

Sequencing Primer
(F):5'- GCTAAGATGCTGTTTGCGC -3'
(R):5'- CAAGAAGCTGGGGGACTTG -3'

Posted On

2018-02-27