Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03230:Nipal2'

413848

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipal2

Ensembl Gene

ENSMUSG00000038879

Gene Name

NIPA-like domain containing 2

Synonyms

Npal2, 9330161F08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03230

Quality Score

Status

Chromosome

Chromosomal Location

34572945-34679358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34575702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 352 (D352V)

Ref Sequence

ENSEMBL: ENSMUSP00000038922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040791]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040791
AA Change: D352V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038922
Gene: ENSMUSG00000038879
AA Change: D352V

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	45	332	1.5e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228679

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,244,313 (GRCm39)	Q2059K	probably benign	Het
Abcc1	A	T	16: 14,275,811 (GRCm39)	T902S	probably benign	Het
Acly	A	T	11: 100,384,885 (GRCm39)	C623S	probably damaging	Het
Ak8	A	G	2: 28,599,935 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,918,065 (GRCm39)	D1811G	probably damaging	Het
Bms1	T	A	6: 118,395,522 (GRCm39)	K8N	possibly damaging	Het
Cdc25b	T	C	2: 131,030,060 (GRCm39)	F79L	probably benign	Het
Cdh13	T	A	8: 119,969,056 (GRCm39)	V471D	probably damaging	Het
Cnot4	T	C	6: 35,028,344 (GRCm39)	D424G	probably damaging	Het
Cyp2a12	A	T	7: 26,729,017 (GRCm39)	I70F	possibly damaging	Het
Cyp2c66	A	T	19: 39,172,302 (GRCm39)	R406W	possibly damaging	Het
Cyp2g1	C	A	7: 26,518,828 (GRCm39)	P408Q	probably damaging	Het
Defa26	A	G	8: 22,108,314 (GRCm39)	D39G	probably damaging	Het
Dnah1	A	T	14: 30,992,023 (GRCm39)	S3020T	probably damaging	Het
Dst	A	T	1: 34,223,133 (GRCm39)	K1119*	probably null	Het
Gm10110	A	C	14: 90,135,733 (GRCm39)		noncoding transcript	Het
Grk2	C	T	19: 4,337,857 (GRCm39)	E508K	probably benign	Het
Hpx	A	T	7: 105,248,519 (GRCm39)	I94N	probably benign	Het
Il23r	C	T	6: 67,400,948 (GRCm39)	A461T	probably benign	Het
Iqca1	A	G	1: 90,072,724 (GRCm39)	I52T	probably damaging	Het
Kif21b	T	A	1: 136,090,550 (GRCm39)	M1146K	probably benign	Het
Kifap3	C	A	1: 163,653,293 (GRCm39)	T293K	probably benign	Het
Luzp1	G	A	4: 136,270,189 (GRCm39)	S804N	probably benign	Het
Mcmdc2	C	T	1: 10,002,221 (GRCm39)		probably benign	Het
Mctp1	G	T	13: 76,972,976 (GRCm39)	A403S	possibly damaging	Het
Mtnr1a	T	C	8: 45,540,435 (GRCm39)	I132T	probably damaging	Het
Musk	T	A	4: 58,296,710 (GRCm39)	N103K	probably damaging	Het
Oas1a	T	A	5: 121,036,419 (GRCm39)	K336I	probably benign	Het
Oasl1	T	C	5: 115,075,115 (GRCm39)	S392P	probably damaging	Het
Or2ag17	A	G	7: 106,389,911 (GRCm39)	L99P	probably damaging	Het
Or3a1c	A	G	11: 74,046,099 (GRCm39)	T40A	probably benign	Het
Or4c117	A	G	2: 88,955,892 (GRCm39)	F61S	probably damaging	Het
Or4c120	A	T	2: 89,001,433 (GRCm39)	M41K	possibly damaging	Het
Or4c58	T	C	2: 89,674,457 (GRCm39)	T287A	probably benign	Het
Or5m8	A	T	2: 85,822,583 (GRCm39)	T141S	probably benign	Het
Pate3	T	G	9: 35,557,402 (GRCm39)	T85P	probably benign	Het
Piezo2	T	C	18: 63,174,791 (GRCm39)	N1988D	probably damaging	Het
Plcxd3	T	A	15: 4,546,272 (GRCm39)	I92N	probably damaging	Het
Ptprd	T	A	4: 75,968,654 (GRCm39)	R213*	probably null	Het
Skic3	T	A	13: 76,303,766 (GRCm39)		probably benign	Het
Slit1	T	C	19: 41,717,524 (GRCm39)	D80G	probably damaging	Het
Sorcs1	A	G	19: 50,230,531 (GRCm39)	V472A	probably damaging	Het
Trp63	T	A	16: 25,707,760 (GRCm39)	D485E	probably damaging	Het
Tsr1	T	C	11: 74,791,297 (GRCm39)	V292A	probably benign	Het
Ush2a	G	T	1: 188,198,390 (GRCm39)	A1485S	probably benign	Het
Vmn1r49	T	A	6: 90,049,650 (GRCm39)	R117S	probably damaging	Het
Vmn2r97	C	A	17: 19,149,668 (GRCm39)	P352H	probably benign	Het
Zxdc	C	T	6: 90,350,785 (GRCm39)	T412I	probably damaging	Het

Other mutations in Nipal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Nipal2	APN	15	34,600,224 (GRCm39)	missense	probably damaging	1.00
IGL01555:Nipal2	APN	15	34,600,264 (GRCm39)	splice site	probably benign
IGL02882:Nipal2	APN	15	34,600,223 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Nipal2	UTSW	15	34,584,875 (GRCm39)	missense	probably damaging	0.99
R0603:Nipal2	UTSW	15	34,650,544 (GRCm39)	missense	probably damaging	0.97
R1255:Nipal2	UTSW	15	34,584,828 (GRCm39)	missense	probably benign	0.30
R1530:Nipal2	UTSW	15	34,625,168 (GRCm39)	makesense	probably null
R1673:Nipal2	UTSW	15	34,648,841 (GRCm39)	missense	probably damaging	0.99
R1857:Nipal2	UTSW	15	34,678,779 (GRCm39)	missense	possibly damaging	0.93
R1888:Nipal2	UTSW	15	34,625,167 (GRCm39)	missense	possibly damaging	0.49
R1888:Nipal2	UTSW	15	34,625,167 (GRCm39)	missense	possibly damaging	0.49
R3825:Nipal2	UTSW	15	34,578,852 (GRCm39)	critical splice donor site	probably null
R4016:Nipal2	UTSW	15	34,600,207 (GRCm39)	missense	possibly damaging	0.91
R4656:Nipal2	UTSW	15	34,577,714 (GRCm39)	critical splice donor site	probably null
R6159:Nipal2	UTSW	15	34,600,172 (GRCm39)	missense	probably damaging	1.00
R7082:Nipal2	UTSW	15	34,584,809 (GRCm39)	missense	possibly damaging	0.95
R7263:Nipal2	UTSW	15	34,578,904 (GRCm39)	nonsense	probably null
R8135:Nipal2	UTSW	15	34,678,719 (GRCm39)	missense	possibly damaging	0.90
R8234:Nipal2	UTSW	15	34,600,178 (GRCm39)	missense	possibly damaging	0.93
R8525:Nipal2	UTSW	15	34,584,815 (GRCm39)	missense	probably damaging	0.99
R8993:Nipal2	UTSW	15	34,648,983 (GRCm39)	nonsense	probably null
R9511:Nipal2	UTSW	15	34,584,833 (GRCm39)	missense	probably damaging	1.00
X0065:Nipal2	UTSW	15	34,609,407 (GRCm39)	nonsense	probably null

Posted On

2016-08-02