Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Nfatc2'

485291

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

044252-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

168476410-168601657 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 168519507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104812 (fasta)

Gene Model

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

AlphaFold

Q60591

Predicted Effect

unknown
Transcript: ENSMUST00000029057
AA Change: I634T

SMART Domains

Protein: ENSMUSP00000029057
Gene: ENSMUSG00000027544
AA Change: I634T

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

SMART Domains

Protein: ENSMUSP00000074198
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_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

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

unknown
Transcript: ENSMUST00000137451
AA Change: I614T

SMART Domains

Protein: ENSMUSP00000118329
Gene: ENSMUSG00000027544
AA Change: I614T

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: ENSMUST00000151292

Predicted Effect

unknown
Transcript: ENSMUST00000171689
AA Change: I413T

SMART Domains

Protein: ENSMUSP00000130875
Gene: ENSMUSG00000027544
AA Change: I413T

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,320,023	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572		probably null	Het
Ccr4	C	T	9: 114,496,493		probably null	Het
Clasrp	G	A	7: 19,586,468		probably benign	Het
Cldn23	A	G	8: 35,825,551	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,320,160	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Frs3	C	T	17: 47,702,671	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,768,496	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131		probably null	Het
Mmp13	A	G	9: 7,276,688	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211	Q188L	probably benign	Het
Olfr152	T	C	2: 87,782,848	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,287,668	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,234,738	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022		probably benign	Het
Psme4	T	A	11: 30,865,567	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,988,393	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Serpina3b	A	T	12: 104,134,169	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520	V1840A	probably benign	Het
Ssb	T	C	2: 69,871,208	*416Q	probably null	Het
Strada	A	G	11: 106,168,436	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350		probably null	Het
Tubb2a	T	C	13: 34,075,343	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,776,138		probably null	Het
Zfp273	A	G	13: 67,822,347	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653	L248P	probably damaging	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
R0631:Nfatc2	UTSW	2	168590115	missense	probably benign	0.02
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
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
R8425:Nfatc2	UTSW	2	168536296	missense	probably damaging	1.00
R8485:Nfatc2	UTSW	2	168590092	missense	probably damaging	1.00
R8791:Nfatc2	UTSW	2	168536294	missense	probably damaging	0.99
R9024:Nfatc2	UTSW	2	168486728	makesense	probably null
R9442:Nfatc2	UTSW	2	168486978	intron	probably benign
R9519:Nfatc2	UTSW	2	168570758	missense	probably benign
Z1176:Nfatc2	UTSW	2	168571349	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCTTCCCAGTAAGAGGAG -3'
(R):5'- TGTCCACTGAAACGGGCTTG -3'

Sequencing Primer
(F):5'- CTTCCCAGTAAGAGGAGACACAG -3'
(R):5'- TGAAACGGGCTTGGCACTG -3'

Posted On

2017-08-16