Mutagenetix > Incidental Mutations

Incidental Mutation 'R4594:Nxpe2'

344263

Institutional Source

Beutler Lab

Gene Symbol

Nxpe2

Ensembl Gene

ENSMUSG00000032028

Gene Name

neurexophilin and PC-esterase domain family, member 2

Synonyms

MMRRC Submission

041810-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48318006-48353454 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48319482 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 529 (D529G)

Ref Sequence

ENSEMBL: ENSMUSP00000034527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034527] [ENSMUST00000135457] [ENSMUST00000215780] [ENSMUST00000216998]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034527
AA Change: D529G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: D529G

Domain	Start	End	E-Value	Type
transmembrane domain	22	39	N/A	INTRINSIC
Pfam:Neurexophilin	80	277	1.2e-18	PFAM
low complexity region	307	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135457

Predicted Effect

probably benign
Transcript: ENSMUST00000215780

Predicted Effect

probably benign
Transcript: ENSMUST00000216998

Meta Mutation Damage Score

0.8280

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in Nxpe2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01414:Nxpe2	APN	9	48320623	missense	probably benign	0.00
IGL01830:Nxpe2	APN	9	48326494	missense	probably damaging	1.00
IGL02039:Nxpe2	APN	9	48319659	missense	probably benign	0.11
IGL02618:Nxpe2	APN	9	48326334	missense	probably damaging	1.00
IGL03065:Nxpe2	APN	9	48319692	missense	possibly damaging	0.68
IGL03128:Nxpe2	APN	9	48319498	missense	probably benign	0.12
P4717OSA:Nxpe2	UTSW	9	48326377	missense	probably benign	0.08
R0019:Nxpe2	UTSW	9	48319780	missense	probably benign	0.37
R0172:Nxpe2	UTSW	9	48319909	missense	possibly damaging	0.76
R0255:Nxpe2	UTSW	9	48340570	critical splice donor site	probably null
R0415:Nxpe2	UTSW	9	48326614	missense	probably damaging	0.99
R1061:Nxpe2	UTSW	9	48326363	missense	probably damaging	1.00
R1248:Nxpe2	UTSW	9	48319911	missense	possibly damaging	0.46
R1311:Nxpe2	UTSW	9	48326614	missense	probably damaging	0.99
R1393:Nxpe2	UTSW	9	48326614	missense	probably damaging	0.99
R1827:Nxpe2	UTSW	9	48326614	missense	probably damaging	0.99
R1828:Nxpe2	UTSW	9	48326614	missense	probably damaging	0.99
R1831:Nxpe2	UTSW	9	48326152	missense	probably benign	0.01
R1866:Nxpe2	UTSW	9	48326821	missense	probably benign	0.01
R1889:Nxpe2	UTSW	9	48326614	missense	probably damaging	0.99
R1892:Nxpe2	UTSW	9	48326614	missense	probably damaging	0.99
R1903:Nxpe2	UTSW	9	48319606	missense	probably benign	0.40
R1928:Nxpe2	UTSW	9	48326614	missense	probably damaging	0.99
R1959:Nxpe2	UTSW	9	48319726	missense	probably benign	0.06
R4697:Nxpe2	UTSW	9	48320521	missense	probably benign	0.03
R4909:Nxpe2	UTSW	9	48319597	missense	possibly damaging	0.93
R5048:Nxpe2	UTSW	9	48326088	splice site	probably null
R5372:Nxpe2	UTSW	9	48339519	missense	possibly damaging	0.66
R5614:Nxpe2	UTSW	9	48323101	missense	probably benign	0.30
R5762:Nxpe2	UTSW	9	48319575	missense	probably benign	0.02
R6151:Nxpe2	UTSW	9	48326191	missense	probably benign	0.01
R6958:Nxpe2	UTSW	9	48326266	missense	probably damaging	1.00
R7130:Nxpe2	UTSW	9	48339537	missense	probably benign	0.00
R7138:Nxpe2	UTSW	9	48320706	missense	probably damaging	1.00
R7250:Nxpe2	UTSW	9	48326796	missense	possibly damaging	0.77
R7289:Nxpe2	UTSW	9	48323039	critical splice donor site	probably null
R7949:Nxpe2	UTSW	9	48323097	missense	possibly damaging	0.83
R7973:Nxpe2	UTSW	9	48319868	missense	probably damaging	0.99
R8327:Nxpe2	UTSW	9	48319759	missense	probably benign	0.01
R8725:Nxpe2	UTSW	9	48326773	missense	probably benign	0.01
R8727:Nxpe2	UTSW	9	48326773	missense	probably benign	0.01
R9085:Nxpe2	UTSW	9	48339572	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TGTGCATGCAAGTACCTATGAG -3'
(R):5'- TTTTGGTCAACACTTCAGACCC -3'

Sequencing Primer
(F):5'- TGCATGCAAGTACCTATGAGATCAG -3'
(R):5'- CGTAGGGCCATCAACGTC -3'

Posted On

2015-09-25