Mutagenetix > Incidental Mutation

Incidental Mutation 'R4684:Nipa2'

353519

Institutional Source

Beutler Lab

Gene Symbol

Nipa2

Ensembl Gene

ENSMUSG00000030452

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R4684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55931287-55962476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55935826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 121 (N121K)

Ref Sequence

ENSEMBL: ENSMUSP00000120798 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000032635
AA Change: N140K

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

SMART Domains

Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452
AA Change: N140K

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: ENSMUST00000117812
AA Change: N140K

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

SMART Domains

Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452
AA Change: N140K

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: N140K

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

SMART Domains

Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452
AA Change: N140K

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: N140K

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

SMART Domains

Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452
AA Change: N140K

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
AA Change: N121K

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

SMART Domains

Protein: ENSMUSP00000120798
Gene: ENSMUSG00000030452
AA Change: N121K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946 (GRCm38)	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871 (GRCm38)	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684 (GRCm38)	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193 (GRCm38)	R3882*	probably null	Het
Adamts3	T	G	5: 89,703,007 (GRCm38)	T558P	probably damaging	Het
Ano2	A	G	6: 125,790,341 (GRCm38)	N214S	probably benign	Het
Arhgef4	A	T	1: 34,811,785 (GRCm38)		probably null	Het
Boc	C	T	16: 44,500,380 (GRCm38)	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781 (GRCm38)	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256 (GRCm38)		probably benign	Het
Cobll1	G	T	2: 65,099,028 (GRCm38)	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038 (GRCm38)	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335 (GRCm38)	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003 (GRCm38)	Y118N	probably damaging	Het
Dgki	A	T	6: 37,299,846 (GRCm38)		probably benign	Het
Disp2	A	G	2: 118,792,756 (GRCm38)	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409 (GRCm38)	Y42*	probably null	Het
Eps8l1	C	A	7: 4,473,945 (GRCm38)	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,721,687 (GRCm38)	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184 (GRCm38)	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309 (GRCm38)	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858 (GRCm38)	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476 (GRCm38)	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256 (GRCm38)	F910L	probably damaging	Het
Helz	T	C	11: 107,649,145 (GRCm38)	V315A	probably damaging	Het
Hk2	T	C	6: 82,739,648 (GRCm38)	Y301C	probably damaging	Het
Htt	C	T	5: 34,852,765 (GRCm38)	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433 (GRCm38)	M1T	probably null	Het
Ik	T	C	18: 36,752,414 (GRCm38)	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370 (GRCm38)	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173 (GRCm38)	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968 (GRCm38)	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641 (GRCm38)	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778 (GRCm38)	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304 (GRCm38)	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244 (GRCm38)	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816 (GRCm38)	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049 (GRCm38)	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430 (GRCm38)	F123L	probably damaging	Het
Mettl7b	G	T	10: 128,960,702 (GRCm38)	C79*	probably null	Het
Myh4	G	C	11: 67,245,811 (GRCm38)	D472H	probably damaging	Het
Nostrin	C	T	2: 69,183,924 (GRCm38)	T408M	probably benign	Het
Olfr347	A	G	2: 36,734,674 (GRCm38)	M118V	probably damaging	Het
Olfr725	T	C	14: 50,034,830 (GRCm38)	D191G	probably damaging	Het
Oosp2	C	T	19: 11,649,653 (GRCm38)	R102H	probably damaging	Het
Osgin2	T	A	4: 16,001,946 (GRCm38)	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697 (GRCm38)	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101 (GRCm38)	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515 (GRCm38)	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278 (GRCm38)	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594 (GRCm38)	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608 (GRCm38)	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179 (GRCm38)	K35*	probably null	Het
Psmc2	A	G	5: 21,803,265 (GRCm38)	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,441,125 (GRCm38)	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096 (GRCm38)	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599 (GRCm38)	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713 (GRCm38)	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200 (GRCm38)		probably null	Het
Secisbp2l	T	C	2: 125,745,942 (GRCm38)	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690 (GRCm38)	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849 (GRCm38)	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936 (GRCm38)	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506 (GRCm38)	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490 (GRCm38)	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076 (GRCm38)	F1887S	probably damaging	Het
Sptbn4	A	T	7: 27,366,735 (GRCm38)	D649E	possibly damaging	Het
Sptbn4	T	C	7: 27,364,419 (GRCm38)	E879G	probably damaging	Het
Stx5a	C	A	19: 8,743,361 (GRCm38)	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771 (GRCm38)	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437 (GRCm38)	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847 (GRCm38)	S32P	probably benign	Het
Trmt44	C	T	5: 35,558,043 (GRCm38)	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781 (GRCm38)	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177 (GRCm38)	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114 (GRCm38)	F1107L	probably benign	Het
Usp5	A	T	6: 124,817,956 (GRCm38)	V677E	probably damaging	Het
Utp20	A	T	10: 88,807,445 (GRCm38)	L605*	probably null	Het
Utrn	T	C	10: 12,745,240 (GRCm38)	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502 (GRCm38)	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334 (GRCm38)	D168V	possibly damaging	Het
Vps13b	C	A	15: 35,879,821 (GRCm38)	T3014K	probably benign	Het
Vps13b	C	T	15: 35,841,341 (GRCm38)	H2506Y	probably benign	Het
Vps13b	T	C	15: 35,646,178 (GRCm38)	V1476A	probably damaging	Het
Vps37c	T	C	19: 10,712,768 (GRCm38)	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385 (GRCm38)	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407 (GRCm38)	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078 (GRCm38)	T1994A	probably benign	Het
Zfp791	A	G	8: 85,110,930 (GRCm38)	Y102H	probably benign	Het

Other mutations in Nipa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Nipa2	APN	7	55,933,445 (GRCm38)	missense	probably damaging	1.00
IGL01965:Nipa2	APN	7	55,944,623 (GRCm38)	start gained	probably benign
IGL02373:Nipa2	APN	7	55,933,128 (GRCm38)	missense	probably benign	0.01
IGL02812:Nipa2	APN	7	55,943,018 (GRCm38)	missense	probably damaging	1.00
IGL03079:Nipa2	APN	7	55,933,457 (GRCm38)	missense	probably damaging	1.00
IGL03188:Nipa2	APN	7	55,932,932 (GRCm38)	missense	probably benign
R1327:Nipa2	UTSW	7	55,944,508 (GRCm38)	missense	possibly damaging	0.81
R2356:Nipa2	UTSW	7	55,932,966 (GRCm38)	missense	probably benign	0.00
R3758:Nipa2	UTSW	7	55,935,941 (GRCm38)	missense	probably damaging	1.00
R3870:Nipa2	UTSW	7	55,932,942 (GRCm38)	missense	probably damaging	1.00
R4775:Nipa2	UTSW	7	55,935,863 (GRCm38)	missense	probably benign	0.19
R5285:Nipa2	UTSW	7	55,933,012 (GRCm38)	nonsense	probably null
R6453:Nipa2	UTSW	7	55,935,821 (GRCm38)	missense	probably damaging	0.98
R6880:Nipa2	UTSW	7	55,933,251 (GRCm38)	missense	probably damaging	0.99
R7459:Nipa2	UTSW	7	55,933,341 (GRCm38)	missense	probably damaging	1.00
R8312:Nipa2	UTSW	7	55,933,302 (GRCm38)	nonsense	probably null
R8835:Nipa2	UTSW	7	55,933,559 (GRCm38)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGGATAATGACTTTGGCTAAGG -3'
(R):5'- CAGTGATCTGCATTGCAAGTCTG -3'

Sequencing Primer
(F):5'- AATGACTTTGGCTAAGGAAATAGC -3'
(R):5'- CTGCATTGCAAGTCTGTTAATTTTC -3'

Posted On

2015-10-21