Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03188:Nipa2'

412517

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipa2

Ensembl Gene

ENSMUSG00000030452

Gene Name

non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human)

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.817) question?

Stock #

IGL03188

Quality Score

Status

Chromosome

Chromosomal Location

55931287-55962476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55932932 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 355 (N355T)

Ref Sequence

ENSEMBL: ENSMUSP00000114020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000032635] [ENSMUST00000085255] [ENSMUST00000117812] [ENSMUST00000119041] [ENSMUST00000119201] [ENSMUST00000126604] [ENSMUST00000152649] [ENSMUST00000163845]

Predicted Effect

probably benign
Transcript: ENSMUST00000032629

SMART Domains

Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:DUF1394	59	302	5.7e-11	PFAM
Pfam:FragX_IP	389	1222	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032635
AA Change: N355T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452
AA Change: N355T

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	6	306	3.2e-150	PFAM
Pfam:EmrE	16	135	6.2e-12	PFAM
Pfam:EamA	52	128	9.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085255

SMART Domains

Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	385	1222	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117812
AA Change: N355T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452
AA Change: N355T

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	8	302	1.4e-151	PFAM
Pfam:EamA	47	128	4.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119041
AA Change: N355T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452
AA Change: N355T

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	6	306	3.2e-150	PFAM
Pfam:EmrE	16	135	6.2e-12	PFAM
Pfam:EamA	52	128	9.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119201
AA Change: N355T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452
AA Change: N355T

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	6	306	3.2e-150	PFAM
Pfam:EmrE	16	135	6.2e-12	PFAM
Pfam:EamA	52	128	9.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126604

SMART Domains

Protein: ENSMUSP00000116219
Gene: ENSMUSG00000030452

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	6	130	1.2e-66	PFAM
Pfam:EmrE	14	130	1.8e-11	PFAM
Pfam:EamA	50	128	1.8e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147950

Predicted Effect

probably benign
Transcript: ENSMUST00000152649

SMART Domains

Protein: ENSMUSP00000120798
Gene: ENSMUSG00000030452

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	6	127	1.9e-53	PFAM
Pfam:EamA	10	109	1.8e-9	PFAM
Pfam:EmrE	18	116	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163845

SMART Domains

Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	385	1224	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206417

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 encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,225	Y186C	possibly damaging	Het
Adamts18	C	A	8: 113,699,024	C1202F	probably damaging	Het
Ago2	C	T	15: 73,123,333	V466I	probably benign	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Aptx	A	T	4: 40,695,143		probably null	Het
Aurka	A	T	2: 172,363,768	D123E	possibly damaging	Het
AW549877	A	G	15: 3,988,705	Y163H	probably damaging	Het
Btaf1	T	C	19: 36,949,108	I60T	possibly damaging	Het
Ccdc154	A	T	17: 25,164,093		probably null	Het
Cct5	T	C	15: 31,598,002	N55S	probably benign	Het
Cntnap3	A	G	13: 64,781,745	S547P	probably damaging	Het
Efl1	T	A	7: 82,671,701	I114N	probably damaging	Het
Gprin1	T	C	13: 54,738,652	D603G	probably benign	Het
Il16	A	G	7: 83,688,163	S115P	probably benign	Het
Kalrn	C	A	16: 34,314,192	V401L	probably benign	Het
Kcnq4	T	A	4: 120,704,426	K482I	possibly damaging	Het
L3mbtl3	C	T	10: 26,342,617	A114T	unknown	Het
Lig1	G	A	7: 13,311,107		probably benign	Het
Lnx1	G	A	5: 74,620,263	T199M	probably damaging	Het
Mapk13	A	G	17: 28,776,583		probably benign	Het
Mfsd2b	A	T	12: 4,866,538		probably null	Het
Mrpl3	A	G	9: 105,057,065	D137G	probably benign	Het
Muc15	A	G	2: 110,731,699	D160G	probably benign	Het
Myh4	T	C	11: 67,246,543		probably null	Het
Olfr1396	T	C	11: 49,113,709	N6D	probably damaging	Het
Olfr484	T	C	7: 108,124,634	T210A	probably benign	Het
Olfr644	A	G	7: 104,068,738	S98P	possibly damaging	Het
Olfr749	A	T	14: 50,736,858	Y101*	probably null	Het
Pfkm	G	T	15: 98,123,243		probably null	Het
Ppip5k1	A	G	2: 121,326,846		probably benign	Het
Ppp1r18	A	G	17: 35,867,965	D244G	possibly damaging	Het
Scn2a	T	C	2: 65,671,653	S107P	probably damaging	Het
Scn5a	A	T	9: 119,522,566	I783N	probably damaging	Het
Snx1	A	G	9: 66,094,452	W307R	probably damaging	Het
Stk11ip	G	A	1: 75,534,435	V928M	probably benign	Het
Tgm4	A	G	9: 123,045,036	M114V	probably null	Het
Trpm2	G	A	10: 77,918,909	R1248C	probably benign	Het
Txnrd1	T	C	10: 82,885,046	I347T	possibly damaging	Het
Unc5a	A	G	13: 54,999,503	S106G	probably damaging	Het
Vmn2r85	T	C	10: 130,418,743	M691V	probably benign	Het
Zfp58	T	A	13: 67,491,409	Q321L	probably benign	Het

Other mutations in Nipa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Nipa2	APN	7	55933445	missense	probably damaging	1.00
IGL01965:Nipa2	APN	7	55944623	start gained	probably benign
IGL02373:Nipa2	APN	7	55933128	missense	probably benign	0.01
IGL02812:Nipa2	APN	7	55943018	missense	probably damaging	1.00
IGL03079:Nipa2	APN	7	55933457	missense	probably damaging	1.00
R1327:Nipa2	UTSW	7	55944508	missense	possibly damaging	0.81
R2356:Nipa2	UTSW	7	55932966	missense	probably benign	0.00
R3758:Nipa2	UTSW	7	55935941	missense	probably damaging	1.00
R3870:Nipa2	UTSW	7	55932942	missense	probably damaging	1.00
R4684:Nipa2	UTSW	7	55935826	missense	probably benign
R4775:Nipa2	UTSW	7	55935863	missense	probably benign	0.19
R5285:Nipa2	UTSW	7	55933012	nonsense	probably null
R6453:Nipa2	UTSW	7	55935821	missense	probably damaging	0.98
R6880:Nipa2	UTSW	7	55933251	missense	probably damaging	0.99
R7459:Nipa2	UTSW	7	55933341	missense	probably damaging	1.00
R8312:Nipa2	UTSW	7	55933302	nonsense	probably null

Posted On

2016-08-02