Mutagenetix > Incidental Mutation

Incidental Mutation 'R2187:Nipsnap2'

237865

Institutional Source

Beutler Lab

Gene Symbol

Nipsnap2

Ensembl Gene

ENSMUSG00000029432

Gene Name

nipsnap homolog 2

Synonyms

Gbas, Nipsnap2

MMRRC Submission

040189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129802127-129835391 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 129823537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141131 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000086046

SMART Domains

Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124342

SMART Domains

Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432

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 null
Transcript: ENSMUST00000186265

SMART Domains

Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432

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 null
Transcript: ENSMUST00000186265

SMART Domains

Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432

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

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	A	17: 31,324,491 (GRCm39)	S245R	probably damaging	Het
AI597479	T	A	1: 43,139,983 (GRCm39)	W70R	probably damaging	Het
Ankrd55	A	G	13: 112,520,039 (GRCm39)	S575G	probably benign	Het
Bfsp2	T	A	9: 103,303,976 (GRCm39)	K343*	probably null	Het
Cant1	A	T	11: 118,299,667 (GRCm39)	Y227*	probably null	Het
Cd2bp2	T	C	7: 126,793,963 (GRCm39)	N109D	probably benign	Het
Chmp6	A	G	11: 119,807,562 (GRCm39)	E135G	possibly damaging	Het
Dsp	T	G	13: 38,360,383 (GRCm39)	S329R	probably damaging	Het
Epha5	A	T	5: 84,234,223 (GRCm39)	F767L	probably damaging	Het
Epha7	A	T	4: 28,942,648 (GRCm39)	T566S	possibly damaging	Het
Erap1	A	T	13: 74,810,524 (GRCm39)	I288F	probably damaging	Het
Erich6	A	G	3: 58,537,266 (GRCm39)		probably null	Het
Fbxo10	A	G	4: 45,058,531 (GRCm39)	V402A	probably benign	Het
Fndc1	T	A	17: 7,960,604 (GRCm39)	I1604F	probably damaging	Het
Foxd4	T	G	19: 24,877,219 (GRCm39)	Q327P	probably damaging	Het
Fxn	T	A	19: 24,257,853 (GRCm39)	N26I	probably benign	Het
Hsf5	G	T	11: 87,529,010 (GRCm39)	G582C	possibly damaging	Het
Itga8	A	G	2: 12,199,231 (GRCm39)	V522A	possibly damaging	Het
Kplce	A	G	3: 92,775,922 (GRCm39)	S254P	probably damaging	Het
Lyst	C	T	13: 13,883,926 (GRCm39)	T2938I	possibly damaging	Het
Mib2	T	C	4: 155,739,390 (GRCm39)	E863G	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,797 (GRCm39)	F290S	probably damaging	Het
Mst1	T	C	9: 107,961,539 (GRCm39)	Y599H	possibly damaging	Het
Mylk4	T	C	13: 32,905,996 (GRCm39)	I165V	probably damaging	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Nup93	T	A	8: 95,027,478 (GRCm39)	S295R	probably damaging	Het
Nutm2	A	T	13: 50,621,453 (GRCm39)	Q6L	probably benign	Het
Or2b6	A	T	13: 21,823,555 (GRCm39)	I46N	probably damaging	Het
Or5ak20	T	G	2: 85,184,259 (GRCm39)	S4R	probably benign	Het
Or5b12b	T	A	19: 12,861,619 (GRCm39)	C125S	probably damaging	Het
Or6c33	A	G	10: 129,853,557 (GRCm39)	E109G	probably damaging	Het
Pip5k1a	A	T	3: 94,979,229 (GRCm39)	L189Q	probably damaging	Het
Plekha4	C	T	7: 45,198,698 (GRCm39)	R574C	probably damaging	Het
Ppp2cb	A	G	8: 34,100,705 (GRCm39)	E42G	possibly damaging	Het
Prkd3	T	A	17: 79,282,983 (GRCm39)	Q244L	probably benign	Het
Ptpn14	C	T	1: 189,595,425 (GRCm39)	R1023*	probably null	Het
Ptpra	A	G	2: 130,346,219 (GRCm39)	T127A	probably benign	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Rasgrf1	T	C	9: 89,876,888 (GRCm39)	I751T	possibly damaging	Het
Rbm27	A	G	18: 42,459,022 (GRCm39)	K697R	probably damaging	Het
Rhoa	C	T	9: 108,212,352 (GRCm39)	T127M	probably benign	Het
Rnpepl1	A	G	1: 92,844,617 (GRCm39)	S370G	probably null	Het
Sdk1	C	T	5: 142,100,329 (GRCm39)	T1453I	probably damaging	Het
Sel1l2	A	G	2: 140,072,793 (GRCm39)	L614S	probably damaging	Het
Slc6a20b	T	A	9: 123,427,653 (GRCm39)	I419F	probably damaging	Het
Slc8a1	C	T	17: 81,955,982 (GRCm39)	S352N	possibly damaging	Het
Spta1	A	G	1: 174,020,532 (GRCm39)	D547G	probably damaging	Het
Tc2n	G	A	12: 101,672,803 (GRCm39)	T46I	probably damaging	Het
Terb1	T	A	8: 105,199,516 (GRCm39)	Y476F	probably benign	Het
Trim12a	T	A	7: 103,953,399 (GRCm39)	E237D	probably damaging	Het
Usp47	T	C	7: 111,666,398 (GRCm39)	L309P	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
IGL01012:Nipsnap2	APN	5	129,823,503 (GRCm39)	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCATATTCTCTTTCACCCAAAG -3'
(R):5'- CTGGGAACAAGTCAGATCAAAATAC -3'

Sequencing Primer
(F):5'- GGAATTTGTAAATTTCCGAAAGGCC -3'
(R):5'- GTGGTAATGCCTGTAACGCCAAC -3'

Posted On

2014-10-02