Mutagenetix > Incidental Mutations

Incidental Mutation 'R8135:Nipal2'

632230

Institutional Source

Beutler Lab

Gene Symbol

Nipal2

Ensembl Gene

ENSMUSG00000038879

Gene Name

NIPA-like domain containing 2

Synonyms

Npal2, 9330161F08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8135 (G1)

Quality Score

199.009

Status

Not validated

Chromosome

Chromosomal Location

34572799-34679212 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34678573 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 41 (Y41N)

Ref Sequence

ENSEMBL: ENSMUSP00000038922 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040791
AA Change: Y41N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038922
Gene: ENSMUSG00000038879
AA Change: Y41N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228073
AA Change: Y41N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,696,995	I420V	probably benign	Het
Adam7	A	T	14: 68,516,573	M359K	probably damaging	Het
Adra1d	C	T	2: 131,561,772	A133T	probably damaging	Het
B3galnt2	T	A	13: 13,970,869		probably null	Het
Camk1g	A	G	1: 193,354,027	V175A	possibly damaging	Het
Cfi	A	G	3: 129,855,000	N178D	probably benign	Het
Csf2rb	T	A	15: 78,348,119	I542K	possibly damaging	Het
Ctsz	T	C	2: 174,429,153	T183A	probably benign	Het
Dhx8	A	G	11: 101,738,264	D213G	unknown	Het
Dph7	T	C	2: 24,969,544	I271T	probably benign	Het
Edem1	G	T	6: 108,829,061	E108*	probably null	Het
Enpp4	T	C	17: 44,101,335	T328A	probably benign	Het
Fasl	A	G	1: 161,787,128	V122A	probably benign	Het
Fut2	T	C	7: 45,651,142	T69A	probably damaging	Het
Gaa	T	C	11: 119,278,384		probably null	Het
Galnt5	T	A	2: 58,014,868	V481D	probably damaging	Het
Gsdma2	A	G	11: 98,652,046	I211V	probably benign	Het
H2-M10.4	T	C	17: 36,461,770	T107A	probably benign	Het
Iqcg	T	A	16: 33,029,024	K297N	probably benign	Het
Map2	A	G	1: 66,413,669	T573A	probably damaging	Het
Nhsl1	A	G	10: 18,531,432	D1438G	probably damaging	Het
Obscn	A	T	11: 59,031,877	S5878T	possibly damaging	Het
Pde6a	T	C	18: 61,285,925	F791L	probably damaging	Het
Phip	A	T	9: 82,930,374	N308K	probably benign	Het
Pigc	A	G	1: 161,970,565	K39E	possibly damaging	Het
Robo2	T	G	16: 73,933,160	I1050L	probably benign	Het
Rps2	A	G	17: 24,720,435	K54E	probably benign	Het
Set	T	A	2: 30,069,427	D137E	probably benign	Het
Sipa1l1	A	G	12: 82,341,301	I100M	probably benign	Het
Spdye4b	T	C	5: 143,195,022	V81A	probably damaging	Het
Tbc1d2	T	C	4: 46,609,071	D722G	probably benign	Het
Tecpr1	T	A	5: 144,198,602	D1011V	probably damaging	Het
Unc80	A	T	1: 66,509,287	I573F	possibly damaging	Het
Vmn1r74	T	A	7: 11,847,603	C277S	probably benign	Het
Vwa1	T	A	4: 155,772,894	D149V	probably damaging	Het
Zfp397	T	A	18: 23,956,507	V23E	probably damaging	Het
Zmynd8	T	C	2: 165,812,426	D722G	probably damaging	Het

Other mutations in Nipal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Nipal2	APN	15	34600078	missense	probably damaging	1.00
IGL01555:Nipal2	APN	15	34600118	splice site	probably benign
IGL02882:Nipal2	APN	15	34600077	missense	probably damaging	1.00
IGL03230:Nipal2	APN	15	34575556	missense	probably damaging	0.97
PIT4486001:Nipal2	UTSW	15	34584729	missense	probably damaging	0.99
R0603:Nipal2	UTSW	15	34650398	missense	probably damaging	0.97
R1255:Nipal2	UTSW	15	34584682	missense	probably benign	0.30
R1530:Nipal2	UTSW	15	34625022	makesense	probably null
R1673:Nipal2	UTSW	15	34648695	missense	probably damaging	0.99
R1857:Nipal2	UTSW	15	34678633	missense	possibly damaging	0.93
R1888:Nipal2	UTSW	15	34625021	missense	possibly damaging	0.49
R1888:Nipal2	UTSW	15	34625021	missense	possibly damaging	0.49
R3825:Nipal2	UTSW	15	34578706	critical splice donor site	probably null
R4016:Nipal2	UTSW	15	34600061	missense	possibly damaging	0.91
R4656:Nipal2	UTSW	15	34577568	critical splice donor site	probably null
R6159:Nipal2	UTSW	15	34600026	missense	probably damaging	1.00
R7082:Nipal2	UTSW	15	34584663	missense	possibly damaging	0.95
R7263:Nipal2	UTSW	15	34578758	nonsense	probably null
R8234:Nipal2	UTSW	15	34600032	missense	possibly damaging	0.93
R8525:Nipal2	UTSW	15	34584669	missense	probably damaging	0.99
X0065:Nipal2	UTSW	15	34609261	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GATGGGTAGCCAAGTGTCAG -3'
(R):5'- GATGTCATTCCTGCGCTGACAG -3'

Sequencing Primer
(F):5'- TAGCCAAGTGTCAGCGTCAC -3'
(R):5'- ATTCCTGCGCTGACAGGTGTAG -3'

Posted On

2020-06-30