Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Npr3'

544934

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

045111-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11839982-11907287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11905334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 131 (C131Y)

Ref Sequence

ENSEMBL: ENSMUSP00000154180 (fasta)

Gene Model

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

AlphaFold

P70180

Predicted Effect

probably damaging
Transcript: ENSMUST00000066529
AA Change: C131Y

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

SMART Domains

Protein: ENSMUSP00000066737
Gene: ENSMUSG00000022206
AA Change: C131Y

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 benign
Transcript: ENSMUST00000228489

Predicted Effect

probably damaging
Transcript: ENSMUST00000228603
AA Change: C131Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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
4921517D22Rik	G	T	13: 59,838,624 (GRCm39)	D69E	possibly damaging	Het
Abat	A	C	16: 8,420,231 (GRCm39)	M177L	probably benign	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Adam5	T	C	8: 25,296,454 (GRCm39)	N331S	probably benign	Het
Ager	A	G	17: 34,819,710 (GRCm39)	E372G	probably damaging	Het
Angpt1	T	A	15: 42,386,991 (GRCm39)	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,154,178 (GRCm39)	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,157,272 (GRCm39)	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,566,422 (GRCm39)	Q1131L	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,691,322 (GRCm39)	M1K	probably null	Het
Ccdc18	G	A	5: 108,321,728 (GRCm39)		probably null	Het
Ccdc42	T	C	11: 68,485,442 (GRCm39)	F267S	probably damaging	Het
Cdh23	T	A	10: 60,173,085 (GRCm39)	Y1700F	probably damaging	Het
Cenpe	A	T	3: 134,940,962 (GRCm39)	S704C	probably damaging	Het
Cenpe	G	A	3: 134,940,963 (GRCm39)	S704N	probably benign	Het
Cfap299	A	T	5: 98,932,379 (GRCm39)	D193V	probably damaging	Het
Cfap54	A	T	10: 92,710,881 (GRCm39)	S2727T	unknown	Het
Clu	T	A	14: 66,209,281 (GRCm39)	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,161,954 (GRCm39)	I98V	probably benign	Het
Copa	G	T	1: 171,918,567 (GRCm39)	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,376,603 (GRCm39)		probably null	Het
Etnk1	T	A	6: 143,148,880 (GRCm39)		probably null	Het
Fnip1	A	T	11: 54,393,761 (GRCm39)	K732N	probably damaging	Het
G6pd2	A	G	5: 61,966,234 (GRCm39)	E3G	probably benign	Het
Gal3st2	A	G	1: 93,801,481 (GRCm39)	T95A	probably benign	Het
Gapvd1	A	G	2: 34,590,829 (GRCm39)	S948P	probably damaging	Het
Ggps1	A	T	13: 14,228,750 (GRCm39)	Y8*	probably null	Het
Gria2	T	C	3: 80,614,279 (GRCm39)	E587G	probably damaging	Het
Hpse	T	C	5: 100,840,145 (GRCm39)	E324G	probably benign	Het
Il16	G	A	7: 83,295,596 (GRCm39)	T493I	probably benign	Het
Ints1	T	C	5: 139,754,217 (GRCm39)	T652A	possibly damaging	Het
Ism1	A	G	2: 139,599,199 (GRCm39)	I391V	probably damaging	Het
Katnb1	A	G	8: 95,825,012 (GRCm39)	D598G	probably damaging	Het
Kif5c	A	G	2: 49,647,441 (GRCm39)	S880G	probably benign	Het
Klra8	T	C	6: 130,102,147 (GRCm39)	N96S	probably benign	Het
Krt79	T	A	15: 101,839,876 (GRCm39)	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,257,374 (GRCm39)	R92Q	probably benign	Het
Lce1d	C	A	3: 92,593,353 (GRCm39)	C20F	unknown	Het
Limk1	T	C	5: 134,701,553 (GRCm39)	T117A	probably benign	Het
Medag	A	T	5: 149,350,708 (GRCm39)	K61M	probably benign	Het
Mkrn3	T	C	7: 62,069,366 (GRCm39)	M142V	probably benign	Het
Mob3c	G	A	4: 115,688,779 (GRCm39)	R104H	probably benign	Het
Morc1	G	T	16: 48,447,433 (GRCm39)	R903L	possibly damaging	Het
Myh6	T	C	14: 55,189,749 (GRCm39)	E1099G	probably damaging	Het
Nphp3	T	G	9: 103,893,315 (GRCm39)	C434G	probably null	Het
Oacyl	C	A	18: 65,855,609 (GRCm39)	Y112*	probably null	Het
Oprl1	A	G	2: 181,360,174 (GRCm39)	T77A	probably damaging	Het
Osgep	A	G	14: 51,162,165 (GRCm39)	V24A	probably damaging	Het
Otx2	T	A	14: 48,896,254 (GRCm39)	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,101,581 (GRCm39)	L922P	probably benign	Het
Pgap4	A	T	4: 49,586,325 (GRCm39)	M281K	probably benign	Het
Phldb1	A	G	9: 44,605,705 (GRCm39)	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,337,299 (GRCm39)		probably null	Het
Psmd3	G	A	11: 98,573,592 (GRCm39)	D13N	probably benign	Het
Ptprc	G	A	1: 137,992,291 (GRCm39)	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,063,064 (GRCm39)	H291L	probably damaging	Het
Rasa4	T	A	5: 136,130,217 (GRCm39)	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,641,755 (GRCm39)		silent	Het
Rin2	A	C	2: 145,725,395 (GRCm39)	D794A	probably damaging	Het
Ripk1	A	G	13: 34,214,045 (GRCm39)	I522M	probably damaging	Het
Rnf31	T	C	14: 55,830,008 (GRCm39)	Y143H	probably benign	Het
Rp1	T	G	1: 4,112,291 (GRCm39)	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,585,796 (GRCm39)	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,109,541 (GRCm39)	V455A	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	T	G	9: 119,314,996 (GRCm39)	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,326,014 (GRCm39)	S240*	probably null	Het
Slc22a8	C	T	19: 8,582,781 (GRCm39)	T154I	probably benign	Het
Slc25a16	T	A	10: 62,773,233 (GRCm39)	V156E	possibly damaging	Het
Slc28a3	A	T	13: 58,758,618 (GRCm39)	S2T	probably benign	Het
Srd5a3	G	A	5: 76,297,713 (GRCm39)	V48I	probably benign	Het
Srebf1	A	C	11: 60,091,352 (GRCm39)	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,527,672 (GRCm39)	K1310E	probably benign	Het
Swt1	A	G	1: 151,246,381 (GRCm39)	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,731,525 (GRCm39)	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,738,883 (GRCm39)	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,883,165 (GRCm39)		probably null	Het
Trim45	A	G	3: 100,839,195 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,933 (GRCm39)	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,787,139 (GRCm39)	C715*	probably null	Het
Vmn2r102	G	A	17: 19,914,456 (GRCm39)	V674I	probably damaging	Het
Zfp87	A	G	13: 67,665,173 (GRCm39)	S430P	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
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
R7896:Npr3	UTSW	15	11,883,448 (GRCm39)	missense	probably damaging	1.00
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'- CAGAGCGAGCATCATCTCTC -3'
(R):5'- TTGTTCTATTGCCCCGGGAC -3'

Sequencing Primer
(F):5'- GAGCGAGCATCATCTCTCCCATC -3'
(R):5'- GGACGATTCGTACTTGTTCTCGC -3'

Posted On

2019-05-13