Mutagenetix > Incidental Mutation

Incidental Mutation 'R3803:Npr3'

274450

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

040878-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R3803 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11839982-11907287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11895876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 257 (A257T)

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: A257T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066737
Gene: ENSMUSG00000022206
AA Change: A257T

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

noncoding transcript
Transcript: ENSMUST00000226139

Predicted Effect

probably damaging
Transcript: ENSMUST00000228489
AA Change: A3T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228603
AA Change: A257T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.2263

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,033 (GRCm39)	N1263S	probably benign	Het
Alpk1	A	C	3: 127,473,486 (GRCm39)	V839G	possibly damaging	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Aox1	T	A	1: 58,329,058 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Arhgap24	T	C	5: 103,040,308 (GRCm39)	V508A	probably damaging	Het
Arhgap9	T	A	10: 127,165,386 (GRCm39)	D598E	possibly damaging	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Clstn1	A	G	4: 149,719,796 (GRCm39)	H437R	probably damaging	Het
Col1a1	A	G	11: 94,828,895 (GRCm39)	E79G	unknown	Het
Cspp1	C	A	1: 10,196,598 (GRCm39)	D157E	probably damaging	Het
Cyp4f16	T	C	17: 32,763,858 (GRCm39)	S217P	possibly damaging	Het
Ddx50	C	A	10: 62,475,723 (GRCm39)	V333F	probably damaging	Het
Dnai2	A	G	11: 114,629,551 (GRCm39)	S193G	probably benign	Het
Dync2h1	A	T	9: 6,935,293 (GRCm39)	H4236Q	probably benign	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Erich6	T	A	3: 58,528,753 (GRCm39)	Y499F	probably damaging	Het
Fa2h	A	G	8: 112,082,030 (GRCm39)		probably null	Het
Fads2b	A	T	2: 85,338,682 (GRCm39)		probably null	Het
Gli1	T	A	10: 127,173,934 (GRCm39)		probably benign	Het
Gm14403	A	G	2: 177,200,569 (GRCm39)	S172G	probably benign	Het
Grhl1	C	T	12: 24,634,918 (GRCm39)	T330M	probably damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Helz2	A	G	2: 180,881,789 (GRCm39)	F335L	probably damaging	Het
Hr	G	A	14: 70,795,333 (GRCm39)	A322T	probably benign	Het
Hsd17b8	A	T	17: 34,245,441 (GRCm39)	V231E	probably damaging	Het
Iapp	A	G	6: 142,249,151 (GRCm39)	N68S	probably benign	Het
Kctd4	A	T	14: 76,200,726 (GRCm39)	L232F	probably benign	Het
Kdm5b	A	G	1: 134,543,679 (GRCm39)	I783V	probably benign	Het
Larp4b	T	A	13: 9,208,590 (GRCm39)	N414K	probably benign	Het
Ldb2	T	C	5: 44,630,736 (GRCm39)	E337G	probably benign	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Luc7l3	A	T	11: 94,183,992 (GRCm39)		probably benign	Het
Ndrg2	C	A	14: 52,148,132 (GRCm39)		probably null	Het
Ndufaf3	C	A	9: 108,444,092 (GRCm39)	R12L	probably benign	Het
Nol4	A	T	18: 22,828,012 (GRCm39)	L634I	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Or4g17	A	T	2: 111,209,638 (GRCm39)	M98L	possibly damaging	Het
Or51a7	T	C	7: 102,615,228 (GRCm39)		probably null	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pclo	C	T	5: 14,565,416 (GRCm39)	Q61*	probably null	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,356,531 (GRCm39)	L332P	probably benign	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rgl3	A	G	9: 21,887,321 (GRCm39)	I500T	probably damaging	Het
Rgs7	T	A	1: 175,016,785 (GRCm39)	I62F	probably benign	Het
Rttn	A	G	18: 88,995,831 (GRCm39)	N205D	probably damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Scn7a	G	A	2: 66,510,590 (GRCm39)	Q1271*	probably null	Het
Skor1	A	G	9: 63,052,868 (GRCm39)	V339A	probably benign	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc5a6	T	C	5: 31,200,295 (GRCm39)	E130G	probably damaging	Het
Sorcs2	T	A	5: 36,555,150 (GRCm39)	K80N	probably benign	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Steap4	G	T	5: 8,026,979 (GRCm39)	R314L	probably damaging	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Trav7d-4	A	T	14: 53,007,575 (GRCm39)	K23*	probably null	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn2r52	A	G	7: 9,907,439 (GRCm39)	S96P	probably damaging	Het
Wdr25	T	C	12: 108,864,479 (GRCm39)	V208A	probably damaging	Het
Wdr27	C	T	17: 15,138,371 (GRCm39)	V360M	probably benign	Het
Zfp54	T	C	17: 21,653,814 (GRCm39)	C103R	possibly damaging	Het
Zfp618	A	G	4: 63,051,256 (GRCm39)	E679G	probably damaging	Het
Zfp846	A	G	9: 20,505,735 (GRCm39)	I532V	probably benign	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	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
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
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'- AATCAAGTATGGCTCCGGAG -3'
(R):5'- GTCCCTCCTGTGGATAAGTG -3'

Sequencing Primer
(F):5'- ATCTATGGGCCTCACTAGAGCTG -3'
(R):5'- CCCTCCTGTGGATAAGTGGTGAC -3'

Posted On

2015-04-02