Mutagenetix > Incidental Mutation

Incidental Mutation 'R6159:Nipal2'

489774

Institutional Source

Beutler Lab

Gene Symbol

Nipal2

Ensembl Gene

ENSMUSG00000038879

Gene Name

NIPA-like domain containing 2

Synonyms

Npal2, 9330161F08Rik

MMRRC Submission

044306-MU

Accession Numbers

Essential gene?

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

Stock #

R6159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34572945-34679358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34600172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 215 (V215G)

Ref Sequence

ENSEMBL: ENSMUSP00000038922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040791] [ENSMUST00000228073]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040791
AA Change: V215G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038922
Gene: ENSMUSG00000038879
AA Change: V215G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227222

Predicted Effect

probably benign
Transcript: ENSMUST00000228073

Meta Mutation Damage Score

0.7511

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.2%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	C	6: 29,908,457 (GRCm39)	N609T	possibly damaging	Het
Ankzf1	G	A	1: 75,170,888 (GRCm39)	C98Y	probably damaging	Het
Atg101	T	A	15: 101,188,519 (GRCm39)	M208K	possibly damaging	Het
Baiap2l2	A	G	15: 79,143,930 (GRCm39)	I388T	probably benign	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Chrnd	T	A	1: 87,118,812 (GRCm39)	D56E	probably benign	Het
Col28a1	A	T	6: 8,162,247 (GRCm39)		probably null	Het
Col4a1	G	T	8: 11,270,007 (GRCm39)	P899Q	probably damaging	Het
Cts3	C	A	13: 61,714,655 (GRCm39)	A217S	probably damaging	Het
Dab2	A	G	15: 6,465,941 (GRCm39)	N495S	possibly damaging	Het
Dnah2	T	A	11: 69,349,368 (GRCm39)	I2423F	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock6	T	C	9: 21,733,041 (GRCm39)	H1053R	probably benign	Het
Eif1ad14	G	A	12: 87,886,521 (GRCm39)	A36V	probably damaging	Het
Fam184a	G	A	10: 53,574,869 (GRCm39)	L191F	probably damaging	Het
Fbxl9	T	C	8: 106,049,925 (GRCm39)	Y33C	probably damaging	Het
Fip1l1	C	T	5: 74,752,608 (GRCm39)	R472W	probably damaging	Het
Gbp2	T	C	3: 142,338,018 (GRCm39)	F378S	probably damaging	Het
Ggt1	A	T	10: 75,420,799 (GRCm39)	E388V	probably damaging	Het
Gm14496	A	G	2: 181,638,050 (GRCm39)	T375A	probably benign	Het
Gm43302	A	G	5: 105,436,894 (GRCm39)	S71P	probably benign	Het
Gnrhr	G	T	5: 86,330,216 (GRCm39)	T268K	probably damaging	Het
Htt	T	C	5: 34,962,020 (GRCm39)	V335A	probably benign	Het
Klhl20	A	T	1: 160,933,037 (GRCm39)	L257H	probably damaging	Het
Med27	C	A	2: 29,414,376 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,369,323 (GRCm39)	C2433S	possibly damaging	Het
Nasp	A	G	4: 116,461,086 (GRCm39)		probably null	Het
Or10al5	A	T	17: 38,063,038 (GRCm39)	I98F	probably damaging	Het
Or9i1b	C	T	19: 13,897,104 (GRCm39)	T240I	probably damaging	Het
Oxct2b	G	A	4: 123,011,244 (GRCm39)	R388H	probably damaging	Het
Pbrm1	A	G	14: 30,774,240 (GRCm39)	I469V	possibly damaging	Het
Phyhip	A	G	14: 70,704,294 (GRCm39)	H171R	possibly damaging	Het
Pigs	C	T	11: 78,219,326 (GRCm39)	T9M	probably benign	Het
Plek	T	C	11: 16,935,539 (GRCm39)	D256G	probably damaging	Het
Prss50	T	C	9: 110,693,371 (GRCm39)	V369A	probably benign	Het
Psmc5	A	G	11: 106,152,088 (GRCm39)	K82E	possibly damaging	Het
Qrsl1	A	T	10: 43,758,189 (GRCm39)	F301L	probably benign	Het
Rasal1	T	C	5: 120,797,673 (GRCm39)	L135P	probably damaging	Het
Rbm47	A	G	5: 66,184,159 (GRCm39)	V148A	probably damaging	Het
Scyl1	T	A	19: 5,814,785 (GRCm39)	D381V	probably benign	Het
Selplg	G	T	5: 113,957,162 (GRCm39)	D381E	probably benign	Het
Sh3rf2	C	A	18: 42,289,200 (GRCm39)	Q674K	probably damaging	Het
Sned1	A	G	1: 93,210,659 (GRCm39)	T987A	probably benign	Het
Sntb1	A	G	15: 55,539,698 (GRCm39)		probably null	Het
Synj2	A	T	17: 6,036,327 (GRCm39)	I14F	probably damaging	Het
Taf2	A	T	15: 54,926,440 (GRCm39)	M170K	possibly damaging	Het
Tg	A	G	15: 66,607,096 (GRCm39)	E211G	possibly damaging	Het
Thnsl1	G	T	2: 21,217,016 (GRCm39)	E257*	probably null	Het
Tlr4	A	G	4: 66,758,070 (GRCm39)	R288G	possibly damaging	Het
Trbc1	T	C	6: 41,515,385 (GRCm39)		probably benign	Het
Trim37	G	A	11: 87,107,374 (GRCm39)		probably null	Het
Txnrd3	T	C	6: 89,640,176 (GRCm39)		probably null	Het
Tyk2	C	A	9: 21,021,800 (GRCm39)	Q875H	probably damaging	Het
Vmn2r55	A	G	7: 12,385,698 (GRCm39)	Y761H	probably damaging	Het
Zswim5	T	C	4: 116,836,876 (GRCm39)	L720P	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
IGL03230:Nipal2	APN	15	34,575,702 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- ACATTGTTAAGCAAGCTTGTACCC -3'
(R):5'- ACCTTCATGAGAACCACTGC -3'

Sequencing Primer
(F):5'- GCAAGCTTGTACCCAAATTAAGTTC -3'
(R):5'- CTGCAAATCCAAACATATACTTGGGG -3'

Posted On

2017-10-10