Mutagenetix > Incidental Mutations

Incidental Mutation 'R2172:Nprl3'

237573

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

040174-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R2172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32225628-32267707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32234894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 372 (M372L)

Ref Sequence

ENSEMBL: ENSMUSP00000105016 (fasta)

Gene Model

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

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: M397L

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

SMART Domains

Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
AA Change: M397L

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: M372L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
AA Change: M372L

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 37,990,560	E441V	probably damaging	Het
Arfip2	T	A	7: 105,637,988	D64V	probably damaging	Het
Atg9a	C	A	1: 75,185,685	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,590,548	I308L	probably benign	Het
Bcan	T	A	3: 87,996,581	Y199F	probably damaging	Het
Bsn	T	C	9: 108,109,992		probably benign	Het
Ccdc158	A	T	5: 92,632,508	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,124,512	Y492C	probably benign	Het
Dnah9	G	T	11: 66,072,779	H1783N	probably damaging	Het
Dpep2	A	G	8: 105,988,998	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,045,502	Y282H	probably damaging	Het
Egfr	C	T	11: 16,911,562	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,700,133	S560P	probably damaging	Het
Gm10696	T	G	3: 94,176,298	K69Q	possibly damaging	Het
Gm14295	G	A	2: 176,811,102	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,382,127	V51I	probably benign	Het
Gsap	G	A	5: 21,222,440		probably null	Het
Hecw1	T	A	13: 14,377,706	I103F	probably damaging	Het
Herc3	T	A	6: 58,887,437	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,382,816	D244E	probably benign	Het
Hydin	A	G	8: 110,582,049	E3989G	probably benign	Het
Ibsp	T	C	5: 104,310,430	Y278H	probably damaging	Het
Ift57	T	G	16: 49,759,340	N291K	probably benign	Het
Il15ra	A	G	2: 11,723,571	T149A	possibly damaging	Het
Ints5	C	T	19: 8,896,282	T535I	possibly damaging	Het
Jarid2	T	C	13: 44,902,539	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Lrrc49	A	G	9: 60,602,682	V429A	probably benign	Het
Lsm3	T	C	6: 91,522,272	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map1a	G	T	2: 121,307,932	V2726L	probably damaging	Het
Marveld3	A	C	8: 109,961,846	S88A	probably benign	Het
Mcm9	T	C	10: 53,548,574	D640G	probably damaging	Het
Mettl4	A	G	17: 94,733,163	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,378	L274*	probably null	Het
Nacc2	A	C	2: 26,060,223	D500E	probably benign	Het
Olfr478	A	T	7: 108,031,467	I292N	probably damaging	Het
Otud7b	T	G	3: 96,153,520		probably null	Het
Pcx	G	A	19: 4,620,881	R1070H	probably benign	Het
Ptprq	C	T	10: 107,590,994	W1560*	probably null	Het
Puf60	A	T	15: 76,070,464	I520N	probably damaging	Het
Qars	C	T	9: 108,509,200	R143C	probably damaging	Het
Rfx3	G	A	19: 27,815,494	Q322*	probably null	Het
Samd14	G	T	11: 95,014,391	V10L	probably benign	Het
Setd2	G	A	9: 110,549,844	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,296,664	S117P	probably benign	Het
Sharpin	C	A	15: 76,350,666		probably benign	Het
Skor1	C	A	9: 63,145,122	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,774	T375A	probably benign	Het
Sparc	G	A	11: 55,395,801	Q324*	probably null	Het
Srebf1	T	C	11: 60,206,502	T171A	probably benign	Het
Srrd	A	G	5: 112,341,122	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,196,417	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,211,456	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,217,420	S516N	probably damaging	Het
Trpa1	T	A	1: 14,881,656	T940S	probably benign	Het
Trpv4	G	A	5: 114,644,710	R64C	probably damaging	Het
Tufm	A	G	7: 126,488,847	E174G	probably benign	Het
Urb2	A	G	8: 124,031,102	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,474,615	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,810,767	F277L	probably damaging	Het
Zfp683	C	T	4: 134,055,795	T190I	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
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
R6553:Nprl3	UTSW	11	32234812	missense	probably benign
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'- ATGTCCTGGAAGGGGATCCTAC -3'
(R):5'- TTTCCCTGGGGTATGCTGAC -3'

Sequencing Primer
(F):5'- ATCCTACTTGGGGAGCCAAAGC -3'
(R):5'- GTATGCTGACCTTGCAGAGCTAC -3'

Posted On

2014-10-02