Mutagenetix > Incidental Mutation

Incidental Mutation 'R0540:Nprl2'

49833

Institutional Source

Beutler Lab

Gene Symbol

Nprl2

Ensembl Gene

ENSMUSG00000010057

Gene Name

NPR2 like, GATOR1 complex subunit

Synonyms

NPRL2, 2810446G01Rik, NPR2L, Tusc4, G21

MMRRC Submission

038732-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R0540 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107419425-107422905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107422497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 329 (Y329F)

Ref Sequence

ENSEMBL: ENSMUSP00000010201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010188] [ENSMUST00000010201] [ENSMUST00000041459] [ENSMUST00000193303] [ENSMUST00000194967] [ENSMUST00000195370] [ENSMUST00000195235]

AlphaFold

Q9WUE4

Predicted Effect

probably benign
Transcript: ENSMUST00000010188

SMART Domains

Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044

Domain	Start	End	E-Value	Type
Pfam:zf-MYND	394	430	1.1e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010201
AA Change: Y329F

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057
AA Change: Y329F

Domain	Start	End	E-Value	Type
Pfam:NPR2	5	279	1.7e-75	PFAM
Pfam:NPR2	269	373	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041459

SMART Domains

Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
B561	47	178	8.01e-42	SMART
transmembrane domain	189	211	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192951

Predicted Effect

probably benign
Transcript: ENSMUST00000193303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194906

Predicted Effect

probably benign
Transcript: ENSMUST00000194344

Predicted Effect

probably benign
Transcript: ENSMUST00000194967

Predicted Effect

probably benign
Transcript: ENSMUST00000195370

SMART Domains

Protein: ENSMUSP00000141746
Gene: ENSMUSG00000010057

Domain	Start	End	E-Value	Type
Pfam:NPR2	2	156	1.2e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195235

SMART Domains

Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
B561	47	178	8.01e-42	SMART
transmembrane domain	189	211	N/A	INTRINSIC

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryo size, microphthalmia, occaional anophthalmia, pale liver, reduced fetal liver hematopoiesis, impaired erythropoiesis and reduced methionine synthesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,926,627 (GRCm39)	T199A	possibly damaging	Het
Als2cl	C	A	9: 110,724,852 (GRCm39)	Y775*	probably null	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ano4	T	A	10: 88,859,806 (GRCm39)	I395F	probably benign	Het
Apcdd1	A	G	18: 63,084,967 (GRCm39)	N388S	possibly damaging	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Atxn1	G	A	13: 45,711,006 (GRCm39)	S642L	probably damaging	Het
Bmp8a	A	G	4: 123,209,723 (GRCm39)	Y322H	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Capn2	A	T	1: 182,319,749 (GRCm39)	Y146*	probably null	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cd209e	T	C	8: 3,901,265 (GRCm39)	K130E	probably benign	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chrna1	T	C	2: 73,401,815 (GRCm39)	N161S	probably damaging	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Cpsf7	G	T	19: 10,510,682 (GRCm39)	E135*	probably null	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Cspg5	T	C	9: 110,076,460 (GRCm39)		probably null	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp2b13	G	A	7: 25,781,136 (GRCm39)	V183I	probably benign	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480 (GRCm39)	S3152A	probably benign	Het
Edn3	C	A	2: 174,602,767 (GRCm39)	P3Q	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Exo5	A	G	4: 120,779,178 (GRCm39)	V229A	probably damaging	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gcn1	T	C	5: 115,727,015 (GRCm39)	V624A	probably benign	Het
Git2	A	G	5: 114,886,335 (GRCm39)	F336L	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Ints8	A	G	4: 11,252,926 (GRCm39)	V52A	possibly damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl6	C	A	16: 19,775,764 (GRCm39)	D265Y	possibly damaging	Het
Kmt5a	T	A	5: 124,589,373 (GRCm39)	N190K	probably damaging	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lipo3	A	T	19: 33,536,967 (GRCm39)	I251K	possibly damaging	Het
Lnpep	A	T	17: 17,758,816 (GRCm39)	F843I	probably damaging	Het
Lrrc45	C	T	11: 120,605,988 (GRCm39)	R99*	probably null	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,759,281 (GRCm39)	P256S	possibly damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Ncan	C	A	8: 70,567,809 (GRCm39)	R101L	possibly damaging	Het
Ndufaf7	A	G	17: 79,253,885 (GRCm39)	D361G	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nexn	T	A	3: 151,953,879 (GRCm39)	K192*	probably null	Het
Nipsnap2	A	T	5: 129,831,909 (GRCm39)	Y234F	probably damaging	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nsun7	A	T	5: 66,440,977 (GRCm39)	K366I	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or11i1	A	T	3: 106,729,829 (GRCm39)	F15L	probably damaging	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or2w2	T	A	13: 21,757,948 (GRCm39)	Y226F	probably benign	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,278,942 (GRCm39)	I641V	probably benign	Het
Peli3	T	C	19: 4,991,939 (GRCm39)	M1V	probably null	Het
Pex16	T	A	2: 92,205,982 (GRCm39)	L25*	probably null	Het
Plekhn1	C	A	4: 156,307,204 (GRCm39)	A449S	possibly damaging	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdx6	A	C	1: 161,078,673 (GRCm39)	L5W	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Rgs6	C	A	12: 83,106,578 (GRCm39)	Y151*	probably null	Het
Ripk4	A	C	16: 97,545,375 (GRCm39)	L361R	probably damaging	Het
Serpinb3d	C	T	1: 107,006,962 (GRCm39)	D249N	probably benign	Het
Skint10	A	T	4: 112,630,224 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,731,713 (GRCm39)	N349K	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srsf10	A	G	4: 135,591,179 (GRCm39)	T210A	possibly damaging	Het
Synpo2l	A	T	14: 20,710,748 (GRCm39)	M624K	probably damaging	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,938,692 (GRCm39)	V49E	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttll5	T	C	12: 85,980,450 (GRCm39)		probably null	Het
Usp28	A	G	9: 48,935,360 (GRCm39)	I104V	probably benign	Het
Vmn1r64	A	G	7: 5,887,096 (GRCm39)	L149S	probably damaging	Het
Yme1l1	T	A	2: 23,082,527 (GRCm39)	M506K	possibly damaging	Het
Zfp280d	T	A	9: 72,215,247 (GRCm39)	F98I	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	probably benign	Het

Other mutations in Nprl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Nprl2	APN	9	107,422,727 (GRCm39)	missense	probably benign	0.04
R0015:Nprl2	UTSW	9	107,421,618 (GRCm39)	missense	probably damaging	1.00
R0015:Nprl2	UTSW	9	107,421,618 (GRCm39)	missense	probably damaging	1.00
R0417:Nprl2	UTSW	9	107,420,497 (GRCm39)	missense	probably damaging	0.98
R1507:Nprl2	UTSW	9	107,420,191 (GRCm39)	missense	probably benign	0.03
R2113:Nprl2	UTSW	9	107,422,511 (GRCm39)	missense	probably benign
R4969:Nprl2	UTSW	9	107,420,273 (GRCm39)	critical splice donor site	probably null
R5040:Nprl2	UTSW	9	107,419,599 (GRCm39)	missense	probably null	0.40
R5097:Nprl2	UTSW	9	107,420,731 (GRCm39)	missense	probably damaging	0.99
R5422:Nprl2	UTSW	9	107,420,796 (GRCm39)	missense	probably benign	0.00
R5544:Nprl2	UTSW	9	107,421,808 (GRCm39)	missense	probably benign	0.00
R5915:Nprl2	UTSW	9	107,422,277 (GRCm39)	unclassified	probably benign
R8022:Nprl2	UTSW	9	107,420,260 (GRCm39)	missense	probably damaging	1.00
R8210:Nprl2	UTSW	9	107,421,947 (GRCm39)	missense	probably damaging	1.00
R8907:Nprl2	UTSW	9	107,421,995 (GRCm39)	missense	probably damaging	0.97
R9331:Nprl2	UTSW	9	107,421,955 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGAAAGGTCAGACGGGCACTCTC -3'
(R):5'- CAGCCTCACTTCCAGCAGATGATG -3'

Sequencing Primer
(F):5'- CTCTCTGGAAGAGCCTTGAGTC -3'
(R):5'- AGCTCATGGTAGCTCATGC -3'

Posted On

2013-06-12