Mutagenetix > Incidental Mutation

Incidental Mutation 'R6553:Nprl3'

521792

Institutional Source

Beutler Lab

Gene Symbol

Nprl3

Ensembl Gene

ENSMUSG00000020289

Gene Name

nitrogen permease regulator-like 3

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R6553 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32225628-32267707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32234812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 399 (R399Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020528] [ENSMUST00000020530] [ENSMUST00000109389] [ENSMUST00000124640] [ENSMUST00000136903] [ENSMUST00000137950] [ENSMUST00000138050] [ENSMUST00000141859] [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: R424Q

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

SMART Domains

Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
AA Change: R424Q

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: R399Q

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

SMART Domains

Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
AA Change: R399Q

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

probably benign
Transcript: ENSMUST00000136903

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: 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: 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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148636

Meta Mutation Damage Score

0.0735

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	G	T	5: 121,501,187	D598E	probably benign	Het
Ascc3	A	G	10: 50,842,177	K1989E	probably benign	Het
Asic5	A	T	3: 82,009,466	T288S	possibly damaging	Het
Chd1	A	G	17: 15,725,430	N72S	probably benign	Het
Ciita	T	A	16: 10,511,745	V628E	probably benign	Het
Cyp2c50	A	G	19: 40,090,602	T130A	probably benign	Het
Dapk1	T	A	13: 60,761,161	V1196E	probably damaging	Het
Dis3l2	T	A	1: 86,745,494	I69N	probably damaging	Het
Exph5	A	G	9: 53,301,712		probably benign	Het
Fcgbp	A	T	7: 28,113,979	Q2313L	possibly damaging	Het
Gm2888	A	G	14: 3,037,722	H238R	possibly damaging	Het
Gm5622	A	G	14: 51,657,743	K120E	probably damaging	Het
Gm7534	A	G	4: 134,202,056	S313P	probably damaging	Het
Gpr155	A	T	2: 73,349,645	I157N	probably damaging	Het
Hltf	T	C	3: 20,072,394	V245A	probably damaging	Het
Kmt2e	G	A	5: 23,463,026	V28I	probably damaging	Het
Lsm3	GATATATA	GATATATATA	6: 91,519,635		probably null	Het
Olfr804	C	T	10: 129,705,063	R62C	probably benign	Het
Ptgs2	T	C	1: 150,103,987	V281A	possibly damaging	Het
Speer4f2	A	G	5: 17,374,422	E73G	probably damaging	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Trav13n-3	A	G	14: 53,337,161	T14A	probably benign	Het
Trav9d-4	A	T	14: 52,983,741	Q63L	probably benign	Het
Vmn2r75	T	A	7: 86,164,245	N450Y	probably benign	Het
Vmn2r97	G	A	17: 18,930,304	W471*	probably null	Het
Zfp27	G	A	7: 29,896,393	T49I	possibly damaging	Het

Other mutations in Nprl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02410:Nprl3	APN	11	32267539	start codon destroyed	probably null	0.99
IGL03055:Nprl3	APN	11	32248230	intron	probably benign
IGL03366:Nprl3	APN	11	32250256	missense	probably damaging	1.00
R0114:Nprl3	UTSW	11	32239784	unclassified	probably benign
R0555:Nprl3	UTSW	11	32233118	critical splice acceptor site	probably null
R0620:Nprl3	UTSW	11	32234876	missense	probably damaging	1.00
R2008:Nprl3	UTSW	11	32232973	missense	probably damaging	0.97
R2172:Nprl3	UTSW	11	32234894	missense	probably benign	0.00
R2884:Nprl3	UTSW	11	32248163	missense	probably damaging	1.00
R3713:Nprl3	UTSW	11	32255464	missense	probably damaging	0.98
R3836:Nprl3	UTSW	11	32233082	missense	probably damaging	1.00
R4354:Nprl3	UTSW	11	32234906	missense	probably benign	0.00
R6052:Nprl3	UTSW	11	32255453	missense	possibly damaging	0.92
R6056:Nprl3	UTSW	11	32267432	missense	probably damaging	0.98
R6307:Nprl3	UTSW	11	32239828	missense	probably damaging	1.00
R6585:Nprl3	UTSW	11	32234812	missense	probably benign
R6774:Nprl3	UTSW	11	32237381	missense	probably damaging	1.00
R6806:Nprl3	UTSW	11	32267509	missense	probably damaging	0.99
R7746:Nprl3	UTSW	11	32248150	nonsense	probably null
R7980:Nprl3	UTSW	11	32237357	missense	probably damaging	1.00
R8483:Nprl3	UTSW	11	32263083	missense	probably damaging	1.00
R8712:Nprl3	UTSW	11	32237334	missense	possibly damaging	0.84
R8827:Nprl3	UTSW	11	32234742	missense	probably benign	0.00
R9264:Nprl3	UTSW	11	32233948	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTCTTATTCCAACAGTACCCAGG -3'
(R):5'- TAGGTACTGGGGCTGCTAAG -3'

Sequencing Primer
(F):5'- AACAGTACCCAGGCTTCTTGGATG -3'
(R):5'- TCCCCAGGAATAGGAATCTGTTC -3'

Posted On

2018-06-06