Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01012:Nipsnap2'

53565

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipsnap2

Ensembl Gene

ENSMUSG00000029432

Gene Name

nipsnap homolog 2

Synonyms

Gbas, Nipsnap2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01012

Quality Score

Status

Chromosome

Chromosomal Location

129802127-129835391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129823503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 181 (I181T)

Ref Sequence

ENSEMBL: ENSMUSP00000141131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086046] [ENSMUST00000124342] [ENSMUST00000186265] [ENSMUST00000195946]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086046
AA Change: I181T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432
AA Change: I181T

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:NIPSNAP	182	279	2.6e-32	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124342
AA Change: I181T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432
AA Change: I181T

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:NIPSNAP	182	279	2.8e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186265
AA Change: I181T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432
AA Change: I181T

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:NIPSNAP	182	279	2.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195946

SMART Domains

Protein: ENSMUSP00000142916
Gene: ENSMUSG00000029432

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC

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 member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,972,772 (GRCm39)	M249K	possibly damaging	Het
Adamtsl1	T	C	4: 86,260,426 (GRCm39)	F879S	possibly damaging	Het
Afap1l2	T	C	19: 56,918,693 (GRCm39)	E30G	probably damaging	Het
Aqp9	A	G	9: 71,037,831 (GRCm39)		probably benign	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Arhgef10	T	C	8: 15,029,977 (GRCm39)	S921P	probably damaging	Het
Atp6v0e2	T	C	6: 48,514,749 (GRCm39)	I22T	probably damaging	Het
AY074887	C	T	9: 54,857,963 (GRCm39)		probably benign	Het
Bcl2l15	T	A	3: 103,740,730 (GRCm39)	D65E	probably damaging	Het
C2cd6	A	T	1: 59,036,507 (GRCm39)		probably benign	Het
Ccdc138	G	A	10: 58,376,737 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,904,838 (GRCm39)	T159A	possibly damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cd300ld2	T	A	11: 114,903,123 (GRCm39)	I241F	probably benign	Het
Cep192	T	A	18: 67,945,477 (GRCm39)	N192K	possibly damaging	Het
Csmd1	T	C	8: 15,967,341 (GRCm39)	K3174R	probably benign	Het
Dpy30	A	T	17: 74,614,749 (GRCm39)	L65I	probably damaging	Het
Eci2	A	T	13: 35,174,312 (GRCm39)	L83*	probably null	Het
F7	A	T	8: 13,083,409 (GRCm39)	E183V	probably damaging	Het
Gabrg1	T	C	5: 70,935,512 (GRCm39)	K214R	probably benign	Het
Galr2	A	T	11: 116,173,996 (GRCm39)	T209S	probably damaging	Het
Gimap9	T	C	6: 48,654,851 (GRCm39)		probably null	Het
Gip	C	A	11: 95,916,285 (GRCm39)	F28L	probably benign	Het
Gpd2	A	G	2: 57,254,542 (GRCm39)	N662S	probably benign	Het
Grik2	T	G	10: 49,149,052 (GRCm39)	D511A	probably damaging	Het
Ift122	T	A	6: 115,876,452 (GRCm39)	Y563N	probably damaging	Het
Ipo8	A	G	6: 148,690,561 (GRCm39)		probably benign	Het
Islr	T	C	9: 58,064,511 (GRCm39)	E332G	probably damaging	Het
Itgb7	G	A	15: 102,136,020 (GRCm39)	S5L	probably benign	Het
Itpr2	G	A	6: 146,246,659 (GRCm39)	R1087W	probably damaging	Het
Katnal2	C	A	18: 77,105,250 (GRCm39)	V66F	probably damaging	Het
Krt81	T	C	15: 101,358,900 (GRCm39)	D284G	probably benign	Het
Krtap4-8	T	A	11: 99,670,831 (GRCm39)		probably benign	Het
Map1s	C	A	8: 71,366,554 (GRCm39)	N486K	probably benign	Het
Med13l	G	A	5: 118,872,093 (GRCm39)	D842N	probably damaging	Het
Mef2c	T	A	13: 83,803,714 (GRCm39)	M306K	probably damaging	Het
Myb	C	T	10: 21,022,159 (GRCm39)	V377I	probably benign	Het
Myocd	C	T	11: 65,075,451 (GRCm39)	G558R	possibly damaging	Het
Nars1	G	T	18: 64,638,039 (GRCm39)	A305E	probably damaging	Het
Neb	A	T	2: 52,086,373 (GRCm39)	N5233K	probably benign	Het
Or10d4b	A	T	9: 39,534,661 (GRCm39)	M81L	probably benign	Het
Or1s2	T	C	19: 13,758,937 (GRCm39)		probably benign	Het
P3h2	A	C	16: 25,805,998 (GRCm39)	C282G	probably damaging	Het
Pcgf5	T	A	19: 36,420,268 (GRCm39)	C167S	probably damaging	Het
Pck2	T	C	14: 55,781,526 (GRCm39)		probably benign	Het
Peli2	C	T	14: 48,490,187 (GRCm39)	R169*	probably null	Het
Pramel16	T	A	4: 143,676,784 (GRCm39)		probably benign	Het
Psme3ip1	G	A	8: 95,313,990 (GRCm39)	R104W	probably damaging	Het
Ralgapa2	T	A	2: 146,263,659 (GRCm39)	Q686L	possibly damaging	Het
Scap	C	A	9: 110,191,488 (GRCm39)	P50H	probably damaging	Het
Sh3rf2	T	A	18: 42,187,257 (GRCm39)	D125E	possibly damaging	Het
Slc25a38	T	C	9: 119,945,560 (GRCm39)		probably benign	Het
Slc35a5	A	G	16: 44,964,195 (GRCm39)	V346A	probably damaging	Het
Smad4	T	A	18: 73,808,880 (GRCm39)	N129I	probably damaging	Het
Sod2	C	T	17: 13,232,464 (GRCm39)	A163V	possibly damaging	Het
Spred3	T	A	7: 28,860,948 (GRCm39)		probably benign	Het
Stag1	C	A	9: 100,737,912 (GRCm39)	A423E	possibly damaging	Het
Stk17b	A	T	1: 53,800,196 (GRCm39)	S261T	probably benign	Het
Stx3	T	C	19: 11,769,152 (GRCm39)	K58E	probably damaging	Het
Timm10b	C	A	7: 105,290,345 (GRCm39)	Y79*	probably null	Het
Tmem204	T	C	17: 25,289,329 (GRCm39)	D97G	probably damaging	Het
Tnfrsf25	T	C	4: 152,202,885 (GRCm39)	V181A	probably benign	Het
Trim54	T	G	5: 31,294,302 (GRCm39)	S313A	probably benign	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Vmn2r23	A	G	6: 123,706,555 (GRCm39)	T462A	probably benign	Het
Wdr27	T	A	17: 15,146,509 (GRCm39)	H162L	probably damaging	Het

Other mutations in Nipsnap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Nipsnap2	APN	5	129,831,915 (GRCm39)	missense	probably damaging	0.99
IGL01320:Nipsnap2	APN	5	129,821,828 (GRCm39)	missense	probably damaging	1.00
IGL01321:Nipsnap2	APN	5	129,834,205 (GRCm39)	makesense	probably null
IGL02119:Nipsnap2	APN	5	129,825,056 (GRCm39)	splice site	probably benign
IGL02636:Nipsnap2	APN	5	129,822,354 (GRCm39)	intron	probably benign
R0540:Nipsnap2	UTSW	5	129,831,909 (GRCm39)	missense	probably damaging	1.00
R1497:Nipsnap2	UTSW	5	129,830,282 (GRCm39)	intron	probably benign
R1649:Nipsnap2	UTSW	5	129,830,301 (GRCm39)	missense	probably damaging	0.99
R1743:Nipsnap2	UTSW	5	129,834,149 (GRCm39)	missense	probably damaging	1.00
R2020:Nipsnap2	UTSW	5	129,830,287 (GRCm39)	splice site	probably null
R2187:Nipsnap2	UTSW	5	129,823,537 (GRCm39)	splice site	probably null
R2215:Nipsnap2	UTSW	5	129,816,649 (GRCm39)	missense	probably damaging	1.00
R2430:Nipsnap2	UTSW	5	129,821,855 (GRCm39)	missense	possibly damaging	0.94
R3124:Nipsnap2	UTSW	5	129,825,098 (GRCm39)	critical splice donor site	probably null
R5072:Nipsnap2	UTSW	5	129,816,644 (GRCm39)	missense	probably damaging	1.00
R5150:Nipsnap2	UTSW	5	129,834,175 (GRCm39)	missense	probably benign	0.03
R5823:Nipsnap2	UTSW	5	129,816,833 (GRCm39)	splice site	probably null
R6736:Nipsnap2	UTSW	5	129,822,352 (GRCm39)	critical splice donor site	probably null
R6913:Nipsnap2	UTSW	5	129,830,357 (GRCm39)	missense	probably benign	0.11
R7163:Nipsnap2	UTSW	5	129,821,774 (GRCm39)	missense	probably benign	0.00
R7597:Nipsnap2	UTSW	5	129,816,637 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28