Mutagenetix > Incidental Mutation

Incidental Mutation 'R5915:Nprl2'

461267

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

044112-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.844) question?

Stock #

R5915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107419425-107422905 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 107422277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141746 (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

probably benign
Transcript: ENSMUST00000010201

SMART Domains

Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057

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: ENSMUST00000194906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195627

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (60/61)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,644,122 (GRCm39)	V940E	probably damaging	Het
Adgrg7	A	T	16: 56,550,748 (GRCm39)		probably null	Het
Alox12e	T	C	11: 70,209,050 (GRCm39)	I399V	possibly damaging	Het
Apoa5	C	A	9: 46,180,607 (GRCm39)	Q42K	probably damaging	Het
Arfgap1	A	G	2: 180,620,215 (GRCm39)	Y243C	possibly damaging	Het
Arhgap12	A	G	18: 6,037,016 (GRCm39)		probably null	Het
Arl16	G	A	11: 120,357,431 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,370,577 (GRCm39)	D951G	probably damaging	Het
Babam2	T	A	5: 31,942,955 (GRCm39)	L80Q	probably damaging	Het
Celsr1	C	T	15: 85,822,176 (GRCm39)	V1714I	probably benign	Het
Celsr1	C	T	15: 85,914,550 (GRCm39)	R1141H	probably damaging	Het
Cep295	A	G	9: 15,252,775 (GRCm39)	L351P	probably damaging	Het
Dlc1	T	A	8: 37,405,829 (GRCm39)		probably benign	Het
Dpy30	G	T	17: 74,622,906 (GRCm39)	D25E	probably benign	Het
Drosha	T	C	15: 12,935,152 (GRCm39)	W998R	probably damaging	Het
Fibp	A	G	19: 5,513,644 (GRCm39)	D220G	possibly damaging	Het
Grm3	C	T	5: 9,561,927 (GRCm39)	C641Y	probably damaging	Het
Gulo	A	T	14: 66,245,570 (GRCm39)	V8D	probably benign	Het
Ifrd1	A	T	12: 40,263,095 (GRCm39)	C164S	possibly damaging	Het
Jam2	G	A	16: 84,606,295 (GRCm39)	S103N	probably benign	Het
Krtap17-1	T	C	11: 99,884,444 (GRCm39)	T108A	unknown	Het
Man2a2	A	G	7: 80,010,669 (GRCm39)	F774S	probably benign	Het
Map1b	G	A	13: 99,566,839 (GRCm39)	R1961W	unknown	Het
Mib2	A	G	4: 155,740,508 (GRCm39)		probably benign	Het
Mr1	A	T	1: 155,012,534 (GRCm39)	F127I	probably damaging	Het
Mrgprb2	A	G	7: 48,202,554 (GRCm39)	I57T	probably benign	Het
Ncan	G	T	8: 70,550,731 (GRCm39)	Y1154*	probably null	Het
Nfx1	T	A	4: 40,977,285 (GRCm39)	S320T	probably benign	Het
Nlrp4f	A	G	13: 65,335,369 (GRCm39)	L740P	probably damaging	Het
Opn1sw	A	G	6: 29,379,754 (GRCm39)		probably null	Het
Or5bw2	A	T	7: 6,573,172 (GRCm39)	I61F	probably benign	Het
Palld	A	G	8: 61,986,386 (GRCm39)		probably null	Het
Phf14	T	A	6: 11,933,726 (GRCm39)	M196K	possibly damaging	Het
Rnf145	T	C	11: 44,433,549 (GRCm39)		probably null	Het
Sbf2	A	T	7: 109,977,303 (GRCm39)	C610*	probably null	Het
Sec24a	C	T	11: 51,646,964 (GRCm39)	A13T	probably benign	Het
Smim8	TCTCCTC	TCTC	4: 34,769,010 (GRCm39)		probably benign	Het
Sox8	A	C	17: 25,786,443 (GRCm39)	L420R	probably damaging	Het
Sry	C	G	Y: 2,662,612 (GRCm39)	Q349H	unknown	Het
Sspo	A	G	6: 48,441,530 (GRCm39)	D1889G	probably benign	Het
Sspo	A	T	6: 48,468,418 (GRCm39)	H4382L	possibly damaging	Het
Tmem65	T	C	15: 58,662,037 (GRCm39)	I141V	probably damaging	Het
Tpr	A	T	1: 150,301,400 (GRCm39)	T1329S	probably benign	Het
Trim17	C	T	11: 58,859,388 (GRCm39)	R201W	probably damaging	Het
Trim3	A	G	7: 105,267,182 (GRCm39)	L399P	possibly damaging	Het
Trim7	A	G	11: 48,736,477 (GRCm39)	D277G	possibly damaging	Het
Vstm2b	A	G	7: 40,552,107 (GRCm39)	N153S	possibly damaging	Het
Wnk2	G	T	13: 49,231,561 (GRCm39)	Q786K	probably damaging	Het
Wnk4	A	G	11: 101,154,720 (GRCm39)	*286W	probably null	Het
Xpot	A	T	10: 121,450,998 (GRCm39)	L134Q	probably damaging	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zc3h7a	G	A	16: 10,982,466 (GRCm39)	Q20*	probably null	Het
Zfp599	C	T	9: 22,161,130 (GRCm39)	C345Y	probably damaging	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
R0540:Nprl2	UTSW	9	107,422,497 (GRCm39)	missense	possibly damaging	0.50
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
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'- ACAGGACCATGTCGGACTAAC -3'
(R):5'- ATAAGGTTCTTCATCAGCCCAAAC -3'

Sequencing Primer
(F):5'- ACCATGTCGGACTAACCCTGG -3'
(R):5'- CCAAACTGGATCAGCTTCCTG -3'

Posted On

2017-02-28