Mutagenetix > Incidental Mutation

Incidental Mutation 'R7896:Npr3'

609709

Institutional Source

Beutler Lab

Gene Symbol

Npr3

Ensembl Gene

ENSMUSG00000022206

Gene Name

natriuretic peptide receptor 3

Synonyms

lgj, Nppc receptor, B430320C24Rik, NPR-C, longjohn

MMRRC Submission

045948-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R7896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11839982-11907287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11883448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 327 (F327S)

Ref Sequence

ENSEMBL: ENSMUSP00000066737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066529] [ENSMUST00000228489] [ENSMUST00000228603]

AlphaFold

P70180

Predicted Effect

probably damaging
Transcript: ENSMUST00000066529
AA Change: F327S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066737
Gene: ENSMUSG00000022206
AA Change: F327S

Domain	Start	End	E-Value	Type
low complexity region	13	29	N/A	INTRINSIC
Pfam:ANF_receptor	66	417	1e-59	PFAM
transmembrane domain	477	499	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000228489
AA Change: F73S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228603
AA Change: F327S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (82/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous inactivation of this gene leads to partial postnatal lethality, altered blood homeostasis, polyuria, hypovolemia, hypotension, increased bone turnover, skeletal deformities and altered adipose morphology. Spontaneous and ENU-induced mutations cause a skeletal-overgrowth phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,840,792 (GRCm39)	T894A	probably damaging	Het
Abcc10	T	A	17: 46,635,235 (GRCm39)	H256L	probably benign	Het
Abcc6	A	G	7: 45,626,803 (GRCm39)	L1418P	probably damaging	Het
Actn2	G	A	13: 12,309,203 (GRCm39)	A290V	possibly damaging	Het
Actrt2	A	T	4: 154,751,652 (GRCm39)	D161E	probably benign	Het
Adam19	T	A	11: 46,028,370 (GRCm39)	C668S	probably damaging	Het
Alg8	T	C	7: 97,040,123 (GRCm39)	L435S	probably damaging	Het
Amz2	G	A	11: 109,327,413 (GRCm39)	E322K	possibly damaging	Het
Ankrd12	T	A	17: 66,292,680 (GRCm39)	R918*	probably null	Het
Atp5pb	A	G	3: 105,863,259 (GRCm39)	I59T	probably damaging	Het
Bach1	T	A	16: 87,515,893 (GRCm39)	C145S	possibly damaging	Het
Bcl6b	G	T	11: 70,117,848 (GRCm39)	S309*	probably null	Het
Birc6	G	T	17: 74,929,077 (GRCm39)	R2323L	probably damaging	Het
Catspere2	A	T	1: 177,938,740 (GRCm39)	M538L	probably benign	Het
Ccdc154	A	T	17: 25,390,800 (GRCm39)	M647L	probably benign	Het
Cdc14a	T	C	3: 116,088,482 (GRCm39)	T447A	probably benign	Het
Chst9	C	T	18: 15,585,846 (GRCm39)	R239H	probably damaging	Het
Cs	C	T	10: 128,189,004 (GRCm39)	A171V	probably damaging	Het
D3Ertd751e	T	A	3: 41,710,508 (GRCm39)	F107I	probably benign	Het
D430041D05Rik	T	C	2: 104,088,385 (GRCm39)	D197G	probably benign	Het
Dcdc2c	G	A	12: 28,520,619 (GRCm39)	Q486*	probably null	Het
Dolk	A	T	2: 30,175,961 (GRCm39)	V28E	possibly damaging	Het
Dpf2	C	T	19: 5,954,333 (GRCm39)	S191N	probably benign	Het
Eml3	T	A	19: 8,911,171 (GRCm39)	F267I	possibly damaging	Het
Entrep2	T	C	7: 64,426,557 (GRCm39)	H232R	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Foxo3	T	C	10: 42,073,732 (GRCm39)	S262G	possibly damaging	Het
Gm1527	T	G	3: 28,975,742 (GRCm39)		probably null	Het
Gm49380	G	A	9: 44,024,096 (GRCm39)	L51F	probably damaging	Het
Gm9195	A	T	14: 72,693,178 (GRCm39)	H1582Q	unknown	Het
Grip1	A	G	10: 119,814,450 (GRCm39)	Q327R	possibly damaging	Het
Gstt1	A	G	10: 75,619,976 (GRCm39)	F207S	probably damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kif16b	A	G	2: 142,675,995 (GRCm39)		probably null	Het
Kif5a	A	G	10: 127,077,873 (GRCm39)	V407A	probably benign	Het
Lrrc57	C	A	2: 120,438,372 (GRCm39)	D134Y	probably damaging	Het
Map1a	A	G	2: 121,135,657 (GRCm39)	T2158A	probably benign	Het
Mink1	A	G	11: 70,503,108 (GRCm39)	N1068S	possibly damaging	Het
Mmp8	A	T	9: 7,564,978 (GRCm39)	I295F	probably damaging	Het
Muc21	G	A	17: 35,930,917 (GRCm39)	P1090S	unknown	Het
Mup18	G	T	4: 61,590,925 (GRCm39)		probably null	Het
Myo1h	G	T	5: 114,474,372 (GRCm39)		probably null	Het
Nap1l5	C	T	6: 58,883,505 (GRCm39)	G52S	probably damaging	Het
Nrxn2	C	A	19: 6,582,083 (GRCm39)	Q1673K	possibly damaging	Het
Or13a20	G	T	7: 140,232,814 (GRCm39)	L307F	probably benign	Het
Or2r3	T	A	6: 42,449,100 (GRCm39)	D4V	probably benign	Het
Paf1	T	C	7: 28,096,072 (GRCm39)	Y260H	probably damaging	Het
Pcmtd2	T	C	2: 181,496,776 (GRCm39)	I251T	probably damaging	Het
Pde9a	C	T	17: 31,678,941 (GRCm39)	Q261*	probably null	Het
Ppip5k1	T	C	2: 121,177,811 (GRCm39)	D332G	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppp1r36	A	G	12: 76,474,923 (GRCm39)		probably null	Het
Pprc1	T	C	19: 46,049,888 (GRCm39)	L67P	unknown	Het
Prkdc	T	G	16: 15,526,767 (GRCm39)	L1346R	probably damaging	Het
Prl7c1	A	T	13: 27,962,070 (GRCm39)	M79K	possibly damaging	Het
Ptprb	C	T	10: 116,205,362 (GRCm39)		probably null	Het
R3hdm1	T	A	1: 128,096,703 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,744,663 (GRCm39)	V1276A	probably benign	Het
Rapsn	T	C	2: 90,875,300 (GRCm39)	L361P	probably benign	Het
Rbm22	G	T	18: 60,702,505 (GRCm39)	A275S	probably benign	Het
Rsph3a	A	G	17: 8,164,940 (GRCm39)	Y100C	probably damaging	Het
Rsrp1	A	T	4: 134,651,274 (GRCm39)	M13L	unknown	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Setd7	C	A	3: 51,444,077 (GRCm39)		probably null	Het
Slc38a2	A	G	15: 96,591,466 (GRCm39)	I206T	probably damaging	Het
Slc9a8	T	C	2: 167,307,278 (GRCm39)	F321L	probably benign	Het
Sppl2c	A	G	11: 104,077,956 (GRCm39)	D252G	possibly damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,082,397 (GRCm39)	T117A	probably damaging	Het
Szt2	A	T	4: 118,260,110 (GRCm39)	F79I	possibly damaging	Het
Tlr3	T	A	8: 45,850,090 (GRCm39)	K860*	probably null	Het
Ttn	T	C	2: 76,625,018 (GRCm39)	S15187G	probably benign	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Unc5c	A	T	3: 141,476,922 (GRCm39)	T363S	possibly damaging	Het
Usp40	G	A	1: 87,906,201 (GRCm39)	T678I	possibly damaging	Het
Vmn1r62	A	T	7: 5,678,609 (GRCm39)	T97S	probably damaging	Het
Vmn1r85	T	A	7: 12,818,448 (GRCm39)	H232L	probably benign	Het
Vmn2r67	A	G	7: 84,785,920 (GRCm39)	I695T	probably damaging	Het
Zfp383	C	A	7: 29,611,626 (GRCm39)	D35E	probably damaging	Het
Zfp65	A	T	13: 67,877,174 (GRCm39)		probably null	Het
Zfp692	A	G	11: 58,205,062 (GRCm39)	K437R	probably damaging	Het
Zfp831	A	T	2: 174,488,921 (GRCm39)	T1199S	possibly damaging	Het
Zfr	T	A	15: 12,146,463 (GRCm39)	I338N	probably damaging	Het

Other mutations in Npr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Npr3	APN	15	11,895,780 (GRCm39)	missense	probably damaging	1.00
IGL01420:Npr3	APN	15	11,858,718 (GRCm39)	missense	probably damaging	1.00
IGL01599:Npr3	APN	15	11,895,875 (GRCm39)	missense	probably damaging	1.00
IGL01977:Npr3	APN	15	11,858,804 (GRCm39)	missense	probably damaging	1.00
eel	UTSW	15	11,858,733 (GRCm39)	missense	probably damaging	0.99
Electric	UTSW	15	11,848,689 (GRCm39)	missense	possibly damaging	0.73
Morray	UTSW	15	11,851,536 (GRCm39)	missense	probably damaging	0.99
R0581:Npr3	UTSW	15	11,851,536 (GRCm39)	missense	probably damaging	0.99
R0607:Npr3	UTSW	15	11,845,368 (GRCm39)	missense	probably benign	0.32
R1554:Npr3	UTSW	15	11,848,649 (GRCm39)	missense	probably benign
R1779:Npr3	UTSW	15	11,851,572 (GRCm39)	missense	probably damaging	1.00
R1793:Npr3	UTSW	15	11,848,665 (GRCm39)	missense	probably benign	0.05
R1968:Npr3	UTSW	15	11,905,055 (GRCm39)	missense	probably benign	0.31
R2379:Npr3	UTSW	15	11,883,449 (GRCm39)	missense	probably damaging	0.99
R2883:Npr3	UTSW	15	11,883,410 (GRCm39)	missense	possibly damaging	0.50
R3080:Npr3	UTSW	15	11,905,235 (GRCm39)	missense	probably benign	0.01
R3745:Npr3	UTSW	15	11,905,577 (GRCm39)	missense	probably damaging	1.00
R3803:Npr3	UTSW	15	11,895,876 (GRCm39)	missense	probably damaging	1.00
R4166:Npr3	UTSW	15	11,848,599 (GRCm39)	missense	probably benign	0.32
R4411:Npr3	UTSW	15	11,905,235 (GRCm39)	missense	probably benign	0.01
R4412:Npr3	UTSW	15	11,905,235 (GRCm39)	missense	probably benign	0.01
R4667:Npr3	UTSW	15	11,905,553 (GRCm39)	missense	possibly damaging	0.58
R5209:Npr3	UTSW	15	11,848,689 (GRCm39)	missense	possibly damaging	0.73
R5742:Npr3	UTSW	15	11,883,494 (GRCm39)	missense	probably damaging	1.00
R6339:Npr3	UTSW	15	11,845,361 (GRCm39)	missense	probably damaging	0.99
R6605:Npr3	UTSW	15	11,905,518 (GRCm39)	missense	probably damaging	1.00
R6890:Npr3	UTSW	15	11,883,478 (GRCm39)	missense	possibly damaging	0.89
R7009:Npr3	UTSW	15	11,905,334 (GRCm39)	missense	probably damaging	1.00
R7371:Npr3	UTSW	15	11,845,376 (GRCm39)	critical splice acceptor site	probably null
R7582:Npr3	UTSW	15	11,895,768 (GRCm39)	missense	probably null	1.00
R7743:Npr3	UTSW	15	11,905,724 (GRCm39)	start codon destroyed	probably null	0.90
R8672:Npr3	UTSW	15	11,851,579 (GRCm39)	missense	probably damaging	1.00
R8840:Npr3	UTSW	15	11,905,329 (GRCm39)	missense	probably damaging	0.98
S24628:Npr3	UTSW	15	11,848,649 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCGACACTCAGACTTGAACTC -3'
(R):5'- CTCTGCTGCCAAAGGTACCATG -3'

Sequencing Primer
(F):5'- GAACTCGGAATTTTTGAATGGCTCAG -3'
(R):5'- TACCATGTAGGGACACATTGC -3'

Posted On

2019-12-20