Mutagenetix > Incidental Mutation

Incidental Mutation 'R9164:Nipsnap1'

695931

Institutional Source

Beutler Lab

Gene Symbol

Nipsnap1

Ensembl Gene

ENSMUSG00000034285

Gene Name

nipsnap homolog 1

Synonyms

MMRRC Submission

068944-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R9164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4823951-4844200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4839969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 230 (V230A)

Ref Sequence

ENSEMBL: ENSMUSP00000049338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038570] [ENSMUST00000136552] [ENSMUST00000139737]

AlphaFold

O55125

Predicted Effect

probably benign
Transcript: ENSMUST00000038570
AA Change: V230A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285
AA Change: V230A

Domain	Start	End	E-Value	Type
Pfam:NIPSNAP	185	282	2.7e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136552

Predicted Effect

probably benign
Transcript: ENSMUST00000139737

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele treated with nocistatin fail to exhibit suppression of neuropeptide nociceptin/orphanin FQ-induced tactile allodynia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,278,157 (GRCm39)	E3112D	probably damaging	Het
Abtb2	C	T	2: 103,541,829 (GRCm39)	T847I	possibly damaging	Het
Acox1	A	T	11: 116,089,173 (GRCm39)	H48Q	probably benign	Het
Adam9	A	G	8: 25,486,795 (GRCm39)	I161T	possibly damaging	Het
Ankrd50	A	G	3: 38,511,204 (GRCm39)	Y388H	probably damaging	Het
Arap1	A	T	7: 101,041,090 (GRCm39)	K593*	probably null	Het
Bicc1	G	A	10: 70,781,094 (GRCm39)	T661M	probably damaging	Het
Cela1	A	G	15: 100,580,766 (GRCm39)		probably null	Het
Celf1	T	A	2: 90,831,426 (GRCm39)	L85H	probably damaging	Het
Cep120	A	T	18: 53,852,318 (GRCm39)	M520K	probably benign	Het
Cfap91	A	G	16: 38,155,960 (GRCm39)	Y88H	possibly damaging	Het
Chd1l	C	T	3: 97,501,356 (GRCm39)	R230H	probably benign	Het
Cyp2c55	A	T	19: 38,995,571 (GRCm39)	K28*	probably null	Het
D930048N14Rik	A	T	11: 51,545,609 (GRCm39)	H167L	unknown	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dock4	T	A	12: 40,754,337 (GRCm39)	I442N	probably damaging	Het
Dpp6	T	C	5: 27,656,286 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,180,308 (GRCm39)	C1960R	probably damaging	Het
Gm13941	T	C	2: 110,936,324 (GRCm39)	S2G	unknown	Het
Gm37240	T	C	3: 84,417,248 (GRCm39)	N157S	possibly damaging	Het
Gp1ba	A	G	11: 70,531,283 (GRCm39)	I350V	unknown	Het
Gtf3c4	A	G	2: 28,724,661 (GRCm39)	V357A	probably benign	Het
Hemgn	T	C	4: 46,396,106 (GRCm39)	I377V	probably benign	Het
Hsd3b3	T	C	3: 98,660,689 (GRCm39)	D28G	probably benign	Het
Intu	A	T	3: 40,645,133 (GRCm39)	D508V	probably damaging	Het
Kif28	A	T	1: 179,533,333 (GRCm39)	M604K	probably damaging	Het
Klra6	T	A	6: 129,993,687 (GRCm39)	I195F	possibly damaging	Het
Lhfpl6	G	A	3: 52,950,887 (GRCm39)	V54I	probably benign	Het
Lrpap1	T	C	5: 35,262,923 (GRCm39)	Y38C	probably damaging	Het
Map1b	T	A	13: 99,562,351 (GRCm39)	Q2453L	unknown	Het
Map1b	C	A	13: 99,568,816 (GRCm39)	E1302*	probably null	Het
Map7	C	T	10: 20,122,410 (GRCm39)	R159C	probably benign	Het
Mov10l1	C	T	15: 88,896,361 (GRCm39)	T735I	probably benign	Het
Nfasc	C	A	1: 132,562,544 (GRCm39)	R77L	probably damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or7e166	T	A	9: 19,624,954 (GRCm39)	M277K	probably benign	Het
Or7e169	T	A	9: 19,757,504 (GRCm39)	N137I	possibly damaging	Het
Orm3	T	C	4: 63,274,809 (GRCm39)	L39P	probably damaging	Het
Pcdhb19	T	A	18: 37,631,852 (GRCm39)	V549E	probably damaging	Het
Pclo	T	A	5: 14,731,699 (GRCm39)	S274R		Het
Phactr1	A	G	13: 42,836,178 (GRCm39)	D2G	possibly damaging	Het
Phtf2	G	A	5: 21,008,190 (GRCm39)	R164*	probably null	Het
Prkcq	A	G	2: 11,231,716 (GRCm39)	D13G	probably damaging	Het
Proser1	A	T	3: 53,379,494 (GRCm39)	N156I	probably benign	Het
Prss51	T	C	14: 64,334,958 (GRCm39)	I171T	probably damaging	Het
Ptbp2	G	A	3: 119,546,640 (GRCm39)	P81S	probably damaging	Het
Ptk2b	T	C	14: 66,404,222 (GRCm39)	D681G	possibly damaging	Het
Rigi	T	A	4: 40,208,827 (GRCm39)	M762L	probably damaging	Het
Slc7a12	A	T	3: 14,564,360 (GRCm39)	I349F	probably damaging	Het
Sorcs2	G	T	5: 36,235,312 (GRCm39)	T240K	possibly damaging	Het
Sowahc	C	A	10: 59,057,897 (GRCm39)	A11E	probably benign	Het
Spag1	A	T	15: 36,216,399 (GRCm39)	Y526F	probably damaging	Het
Stim1	A	G	7: 102,084,626 (GRCm39)	H526R	probably benign	Het
Stx1b	T	C	7: 127,414,159 (GRCm39)	K69R	probably benign	Het
Tal1	T	C	4: 114,920,646 (GRCm39)	S107P	probably benign	Het
Tas2r130	T	C	6: 131,606,975 (GRCm39)	I273M	probably damaging	Het
Ttc24	A	T	3: 87,980,295 (GRCm39)	Y135*	probably null	Het
Ttn	G	A	2: 76,583,856 (GRCm39)	P22384S	probably damaging	Het
Vmn2r14	T	G	5: 109,364,087 (GRCm39)	T610P	probably damaging	Het
Vmn2r84	T	A	10: 130,221,669 (GRCm39)	*850C	probably null	Het
Vwf	T	A	6: 125,542,806 (GRCm39)	I94N		Het
Zan	A	T	5: 137,422,333 (GRCm39)	S2762T	unknown	Het
Zbtb20	A	G	16: 43,430,764 (GRCm39)	Q352R	probably benign	Het
Zfc3h1	T	C	10: 115,259,374 (GRCm39)	Y1649H	probably benign	Het
Zfp397	A	T	18: 24,089,828 (GRCm39)	Q111L	probably damaging	Het
Zfp616	T	A	11: 73,975,825 (GRCm39)	I698N	probably damaging	Het

Other mutations in Nipsnap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Nipsnap1	APN	11	4,839,098 (GRCm39)	missense	possibly damaging	0.77
IGL01552:Nipsnap1	APN	11	4,839,124 (GRCm39)	missense	probably damaging	1.00
IGL01744:Nipsnap1	APN	11	4,839,912 (GRCm39)	missense	probably damaging	1.00
IGL01938:Nipsnap1	APN	11	4,843,134 (GRCm39)	missense	probably benign	0.00
IGL03328:Nipsnap1	APN	11	4,834,096 (GRCm39)	missense	possibly damaging	0.89
R0355:Nipsnap1	UTSW	11	4,839,957 (GRCm39)	missense	probably damaging	1.00
R1126:Nipsnap1	UTSW	11	4,834,081 (GRCm39)	missense	probably benign	0.01
R1815:Nipsnap1	UTSW	11	4,839,101 (GRCm39)	missense	probably damaging	1.00
R2129:Nipsnap1	UTSW	11	4,838,932 (GRCm39)	missense	probably benign	0.04
R2205:Nipsnap1	UTSW	11	4,839,974 (GRCm39)	missense	possibly damaging	0.95
R4852:Nipsnap1	UTSW	11	4,841,468 (GRCm39)	nonsense	probably null
R5776:Nipsnap1	UTSW	11	4,838,919 (GRCm39)	missense	probably benign	0.00
R6073:Nipsnap1	UTSW	11	4,838,895 (GRCm39)	missense	possibly damaging	0.86
R7122:Nipsnap1	UTSW	11	4,833,366 (GRCm39)	critical splice acceptor site	probably null
R7263:Nipsnap1	UTSW	11	4,832,960 (GRCm39)	unclassified	probably benign
R7538:Nipsnap1	UTSW	11	4,834,089 (GRCm39)	missense	probably damaging	1.00
R7947:Nipsnap1	UTSW	11	4,839,145 (GRCm39)	missense	possibly damaging	0.64
R8166:Nipsnap1	UTSW	11	4,834,057 (GRCm39)	missense	probably benign	0.00
R9312:Nipsnap1	UTSW	11	4,839,902 (GRCm39)	missense	possibly damaging	0.55
X0011:Nipsnap1	UTSW	11	4,824,069 (GRCm39)	missense	probably benign
Z1177:Nipsnap1	UTSW	11	4,839,956 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGAGTTCATTCCCTTGGCC -3'
(R):5'- AAAAGTGCTTGTTGTCTCCCC -3'

Sequencing Primer
(F):5'- TGGCCCCACTTTGGACC -3'
(R):5'- TGCCTAGTCTTCCCCAGTATG -3'

Posted On

2022-02-07