Mutagenetix > Incidental Mutation

Incidental Mutation 'R4354:Nprl3'

327455

Institutional Source

Beutler Lab

Gene Symbol

Nprl3

Ensembl Gene

ENSMUSG00000020289

Gene Name

nitrogen permease regulator-like 3

Synonyms

Mare, HS-26, Prox1, Phg, -14 gene, HS-40, m(alpha)RE

MMRRC Submission

041107-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R4354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32181963-32217707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32184906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 368 (M368L)

Ref Sequence

ENSEMBL: ENSMUSP00000105016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020528] [ENSMUST00000020530] [ENSMUST00000109389] [ENSMUST00000124640] [ENSMUST00000141859] [ENSMUST00000138050] [ENSMUST00000137950] [ENSMUST00000149526] [ENSMUST00000136903] [ENSMUST00000142964]

AlphaFold

Q8VIJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000020528

SMART Domains

Protein: ENSMUSP00000020528
Gene: ENSMUSG00000020287

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
Pfam:Pur_DNA_glyco	109	304	1.2e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020530
AA Change: M393L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
AA Change: M393L

Domain	Start	End	E-Value	Type
Blast:DSPc	1	77	3e-27	BLAST
Pfam:NPR3	104	418	1.8e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109389
AA Change: M368L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
AA Change: M368L

Domain	Start	End	E-Value	Type
Pfam:NPR3	63	108	8.3e-15	PFAM
Pfam:NPR3	104	395	3.1e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109390

Predicted Effect

probably benign
Transcript: ENSMUST00000124640

SMART Domains

Protein: ENSMUSP00000122085
Gene: ENSMUSG00000020289

Domain	Start	End	E-Value	Type
Blast:DSPc	1	68	2e-30	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148636

Predicted Effect

probably benign
Transcript: ENSMUST00000141859

SMART Domains

Protein: ENSMUSP00000120341
Gene: ENSMUSG00000020289

Domain	Start	End	E-Value	Type
Blast:DSPc	1	59	2e-30	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000138050

SMART Domains

Protein: ENSMUSP00000121960
Gene: ENSMUSG00000020287

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
SCOP:d1ewna_	102	125	5e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137950

SMART Domains

Protein: ENSMUSP00000115594
Gene: ENSMUSG00000020289

Domain	Start	End	E-Value	Type
Blast:DSPc	1	68	2e-30	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000149526

SMART Domains

Protein: ENSMUSP00000122231
Gene: ENSMUSG00000020289

Domain	Start	End	E-Value	Type
Pfam:NPR3	8	72	2.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136903

Predicted Effect

probably benign
Transcript: ENSMUST00000142964

SMART Domains

Protein: ENSMUSP00000118208
Gene: ENSMUSG00000020287

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
SCOP:d1ewna_	102	125	5e-4	SMART

Meta Mutation Damage Score

0.1943

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (37/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]
PHENOTYPE: This gene is deleted in the Hba^th-J mutation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Abca8b	A	C	11: 109,862,518 (GRCm39)	S416A	probably benign	Het
Abcb4	A	T	5: 8,968,771 (GRCm39)	N370I	probably benign	Het
Abi3bp	T	C	16: 56,353,314 (GRCm39)	F81S	probably benign	Het
Ablim1	C	T	19: 57,143,710 (GRCm39)	C83Y	probably damaging	Het
Adamtsl1	A	T	4: 86,074,921 (GRCm39)	H96L	probably damaging	Het
Alms1-ps1	C	T	6: 85,732,617 (GRCm39)		noncoding transcript	Het
AU040320	A	G	4: 126,748,192 (GRCm39)		probably benign	Het
Chd1	T	A	17: 17,610,263 (GRCm39)	H472Q	probably benign	Het
Chgb	A	T	2: 132,635,864 (GRCm39)	D602V	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gpa33	A	G	1: 165,991,404 (GRCm39)	T212A	possibly damaging	Het
Hspg2	C	A	4: 137,196,222 (GRCm39)	A17E	probably benign	Het
Irf7	T	C	7: 140,845,183 (GRCm39)	R8G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Loxhd1	T	C	18: 77,483,123 (GRCm39)	Y1235H	probably damaging	Het
Mon2	T	C	10: 122,862,888 (GRCm39)	T680A	probably benign	Het
Nab1	A	T	1: 52,529,855 (GRCm39)	L14Q	probably damaging	Het
Neu4	C	T	1: 93,952,279 (GRCm39)	T216I	probably damaging	Het
Nle1	A	G	11: 82,797,257 (GRCm39)	C152R	possibly damaging	Het
Nudt9	A	G	5: 104,205,977 (GRCm39)	K129E	probably damaging	Het
Or5c1	T	C	2: 37,221,888 (GRCm39)	L43P	probably damaging	Het
Pdzd8	T	C	19: 59,333,913 (GRCm39)	D36G	probably benign	Het
Pga5	C	T	19: 10,652,190 (GRCm39)		probably null	Het
Pold3	T	C	7: 99,749,824 (GRCm39)	K47E	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rab3gap1	A	G	1: 127,843,378 (GRCm39)	I251V	probably benign	Het
Susd2	G	T	10: 75,475,562 (GRCm39)	F447L	probably damaging	Het
Tbc1d7	T	C	13: 43,323,344 (GRCm39)	K16E	probably damaging	Het
Tlr8	T	G	X: 166,025,868 (GRCm39)	Q994P	probably damaging	Het
Ube2j1	T	C	4: 33,049,682 (GRCm39)	Y227H	probably benign	Het

Other mutations in Nprl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02410:Nprl3	APN	11	32,217,539 (GRCm39)	start codon destroyed	probably null	0.99
IGL03055:Nprl3	APN	11	32,198,230 (GRCm39)	intron	probably benign
IGL03366:Nprl3	APN	11	32,200,256 (GRCm39)	missense	probably damaging	1.00
R0114:Nprl3	UTSW	11	32,189,784 (GRCm39)	unclassified	probably benign
R0555:Nprl3	UTSW	11	32,183,118 (GRCm39)	critical splice acceptor site	probably null
R0620:Nprl3	UTSW	11	32,184,876 (GRCm39)	missense	probably damaging	1.00
R2008:Nprl3	UTSW	11	32,182,973 (GRCm39)	missense	probably damaging	0.97
R2172:Nprl3	UTSW	11	32,184,894 (GRCm39)	missense	probably benign	0.00
R2884:Nprl3	UTSW	11	32,198,163 (GRCm39)	missense	probably damaging	1.00
R3713:Nprl3	UTSW	11	32,205,464 (GRCm39)	missense	probably damaging	0.98
R3836:Nprl3	UTSW	11	32,183,082 (GRCm39)	missense	probably damaging	1.00
R6052:Nprl3	UTSW	11	32,205,453 (GRCm39)	missense	possibly damaging	0.92
R6056:Nprl3	UTSW	11	32,217,432 (GRCm39)	missense	probably damaging	0.98
R6307:Nprl3	UTSW	11	32,189,828 (GRCm39)	missense	probably damaging	1.00
R6553:Nprl3	UTSW	11	32,184,812 (GRCm39)	missense	probably benign
R6585:Nprl3	UTSW	11	32,184,812 (GRCm39)	missense	probably benign
R6774:Nprl3	UTSW	11	32,187,381 (GRCm39)	missense	probably damaging	1.00
R6806:Nprl3	UTSW	11	32,217,509 (GRCm39)	missense	probably damaging	0.99
R7746:Nprl3	UTSW	11	32,198,150 (GRCm39)	nonsense	probably null
R7980:Nprl3	UTSW	11	32,187,357 (GRCm39)	missense	probably damaging	1.00
R8483:Nprl3	UTSW	11	32,213,083 (GRCm39)	missense	probably damaging	1.00
R8712:Nprl3	UTSW	11	32,187,334 (GRCm39)	missense	possibly damaging	0.84
R8827:Nprl3	UTSW	11	32,184,742 (GRCm39)	missense	probably benign	0.00
R9264:Nprl3	UTSW	11	32,183,948 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCATTACCAGACAGATGTCCTG -3'
(R):5'- GTATGCTGACCTTGCAGAGC -3'

Sequencing Primer
(F):5'- ATGTCCTGGAAGGGGATCCTAC -3'
(R):5'- TGACCTTGCAGAGCTACCCAG -3'

Posted On

2015-07-07