Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03079:Nipa2'

417788

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

3830408P04Rik, 2600017P10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

IGL03079

Quality Score

Status

Chromosome

Chromosomal Location

55581035-55612224 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55583205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 180 (V180E)

Ref Sequence

ENSEMBL: ENSMUSP00000114020 (fasta)

Gene Model

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

AlphaFold

Q9JJC8

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 damaging
Transcript: ENSMUST00000032635
AA Change: V180E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452
AA Change: V180E

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 damaging
Transcript: ENSMUST00000117812
AA Change: V180E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452
AA Change: V180E

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 damaging
Transcript: ENSMUST00000119041
AA Change: V180E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452
AA Change: V180E

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 damaging
Transcript: ENSMUST00000119201
AA Change: V180E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452
AA Change: V180E

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: ENSMUST00000205656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173267

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alx1	T	A	10: 102,845,209 (GRCm39)	H274L	probably damaging	Het
Arl6ip4	A	T	5: 124,254,990 (GRCm39)	H59L	possibly damaging	Het
C1ra	A	G	6: 124,496,794 (GRCm39)	Y410C	probably damaging	Het
Ceacam11	A	G	7: 17,712,361 (GRCm39)	N270S	probably benign	Het
Cmtr1	T	A	17: 29,882,267 (GRCm39)	N39K	possibly damaging	Het
Cmya5	T	C	13: 93,234,209 (GRCm39)	D293G	possibly damaging	Het
Cyp2d11	T	C	15: 82,275,167 (GRCm39)	E260G	probably damaging	Het
Dnajc13	C	T	9: 104,090,068 (GRCm39)	W700*	probably null	Het
Efemp2	G	T	19: 5,525,155 (GRCm39)	L20F	probably damaging	Het
Hars1	G	A	18: 36,903,556 (GRCm39)	L289F	probably damaging	Het
Hdlbp	A	G	1: 93,341,662 (GRCm39)		probably benign	Het
Iqgap3	A	T	3: 88,020,477 (GRCm39)	M374L	probably benign	Het
Lrig2	A	T	3: 104,398,287 (GRCm39)	W281R	probably damaging	Het
Lyg2	C	T	1: 37,946,727 (GRCm39)	E185K	possibly damaging	Het
Maml2	A	G	9: 13,532,912 (GRCm39)		probably benign	Het
Marchf11	T	C	15: 26,311,144 (GRCm39)	S207P	probably damaging	Het
Or4k6	A	T	14: 50,475,581 (GRCm39)	C254S	possibly damaging	Het
P2rx5	A	G	11: 73,055,714 (GRCm39)	D57G	possibly damaging	Het
Pxdn	T	C	12: 30,052,997 (GRCm39)	I1058T	probably damaging	Het
Rxfp3	C	A	15: 11,036,909 (GRCm39)	M154I	possibly damaging	Het
Slc3a1	T	A	17: 85,367,251 (GRCm39)	Y479*	probably null	Het
Tamalin	T	C	15: 101,128,448 (GRCm39)	V162A	probably damaging	Het
Tecrl	G	A	5: 83,442,447 (GRCm39)	H209Y	probably damaging	Het
Ttll5	T	C	12: 85,923,332 (GRCm39)	Y270H	probably damaging	Het
Usp34	A	G	11: 23,382,247 (GRCm39)	E1986G	possibly damaging	Het
Zfp719	A	G	7: 43,240,590 (GRCm39)	Y726C	probably damaging	Het
Zfp810	T	C	9: 22,195,423 (GRCm39)	E7G	probably damaging	Het

Other mutations in Nipa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Nipa2	APN	7	55,583,193 (GRCm39)	missense	probably damaging	1.00
IGL01965:Nipa2	APN	7	55,594,371 (GRCm39)	start gained	probably benign
IGL02373:Nipa2	APN	7	55,582,876 (GRCm39)	missense	probably benign	0.01
IGL02812:Nipa2	APN	7	55,592,766 (GRCm39)	missense	probably damaging	1.00
IGL03188:Nipa2	APN	7	55,582,680 (GRCm39)	missense	probably benign
R1327:Nipa2	UTSW	7	55,594,256 (GRCm39)	missense	possibly damaging	0.81
R2356:Nipa2	UTSW	7	55,582,714 (GRCm39)	missense	probably benign	0.00
R3758:Nipa2	UTSW	7	55,585,689 (GRCm39)	missense	probably damaging	1.00
R3870:Nipa2	UTSW	7	55,582,690 (GRCm39)	missense	probably damaging	1.00
R4684:Nipa2	UTSW	7	55,585,574 (GRCm39)	missense	probably benign
R4775:Nipa2	UTSW	7	55,585,611 (GRCm39)	missense	probably benign	0.19
R5285:Nipa2	UTSW	7	55,582,760 (GRCm39)	nonsense	probably null
R6453:Nipa2	UTSW	7	55,585,569 (GRCm39)	missense	probably damaging	0.98
R6880:Nipa2	UTSW	7	55,582,999 (GRCm39)	missense	probably damaging	0.99
R7459:Nipa2	UTSW	7	55,583,089 (GRCm39)	missense	probably damaging	1.00
R8312:Nipa2	UTSW	7	55,583,050 (GRCm39)	nonsense	probably null
R8835:Nipa2	UTSW	7	55,583,307 (GRCm39)	unclassified	probably benign

Posted On

2016-08-02