Mutagenetix > Incidental Mutation

Incidental Mutation 'R0437:Npr2'

39056

Institutional Source

Beutler Lab

Gene Symbol

Npr2

Ensembl Gene

ENSMUSG00000028469

Gene Name

natriuretic peptide receptor 2

Synonyms

pwe, guanylyl cyclase-B, cn

MMRRC Submission

038638-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R0437 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

43631935-43651244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43648082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 842 (V842A)

Ref Sequence

ENSEMBL: ENSMUSP00000103506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030191] [ENSMUST00000084646] [ENSMUST00000107870] [ENSMUST00000107874]

AlphaFold

Q6VVW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030191
AA Change: V842A

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

SMART Domains

Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: V842A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	44	399	1.9e-45	PFAM
Pfam:Pkinase_Tyr	518	786	4.7e-39	PFAM
Pfam:Pkinase	535	785	1.2e-32	PFAM
CYCc	825	1019	3.28e-111	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084646

SMART Domains

Protein: ENSMUSP00000081696
Gene: ENSMUSG00000066196

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	148	175	N/A	INTRINSIC
low complexity region	230	254	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107870

SMART Domains

Protein: ENSMUSP00000103502
Gene: ENSMUSG00000066196

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	148	175	N/A	INTRINSIC
low complexity region	230	254	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107874
AA Change: V842A

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

SMART Domains

Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: V842A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	44	399	5.7e-56	PFAM
Pfam:Pkinase_Tyr	518	786	4.1e-39	PFAM
Pfam:Pkinase	533	785	3.8e-34	PFAM
CYCc	825	989	4.37e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123351

SMART Domains

Protein: ENSMUSP00000117761
Gene: ENSMUSG00000028469

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
Pfam:Pkinase_Tyr	71	173	1.3e-12	PFAM
Pfam:Pkinase	85	170	1.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123883

Predicted Effect

unknown
Transcript: ENSMUST00000128549
AA Change: V407A

SMART Domains

Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: V407A

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Pkinase_Tyr	84	352	1e-39	PFAM
Pfam:Pkinase	101	351	2.6e-33	PFAM
CYCc	391	585	3.28e-111	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143160

Predicted Effect

probably benign
Transcript: ENSMUST00000149575

Meta Mutation Damage Score

0.6999

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (104/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in skeletal abnormalities, malocclusion, and reduced viability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,606,631 (GRCm39)	R291K	probably benign	Het
Abca2	T	C	2: 25,332,857 (GRCm39)	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,087,639 (GRCm39)	A1042V	probably damaging	Het
Abcc10	A	T	17: 46,623,845 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,623,846 (GRCm39)		probably benign	Het
Alkbh3	A	C	2: 93,811,914 (GRCm39)	L240V	probably damaging	Het
Apol10b	T	C	15: 77,469,608 (GRCm39)	S190G	probably benign	Het
Atp1a3	C	A	7: 24,698,392 (GRCm39)	C135F	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
Bicra	A	G	7: 15,722,687 (GRCm39)	S277P	possibly damaging	Het
Bltp1	A	T	3: 37,043,953 (GRCm39)	H2820L	possibly damaging	Het
Bmp8a	T	C	4: 123,210,690 (GRCm39)	E275G	probably benign	Het
Ccdc102a	T	C	8: 95,640,054 (GRCm39)	E80G	probably damaging	Het
Cdh23	T	C	10: 60,246,576 (GRCm39)	D954G	probably damaging	Het
Chrm4	A	G	2: 91,758,788 (GRCm39)	T399A	possibly damaging	Het
Clcn3	A	G	8: 61,387,571 (GRCm39)	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,952,164 (GRCm39)		probably null	Het
Crx	G	T	7: 15,605,071 (GRCm39)	S57*	probably null	Het
Cstpp1	A	G	2: 91,252,298 (GRCm39)	L21P	probably damaging	Het
Cyp4f16	A	G	17: 32,756,072 (GRCm39)	I34V	possibly damaging	Het
Daxx	T	C	17: 34,132,598 (GRCm39)	V576A	probably benign	Het
Ddx17	C	T	15: 79,421,672 (GRCm39)	R351H	probably damaging	Het
Dhx38	T	C	8: 110,285,261 (GRCm39)		probably benign	Het
Dnd1	T	C	18: 36,897,552 (GRCm39)		probably benign	Het
Dync1i2	A	T	2: 71,058,169 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,866,446 (GRCm39)	S52P	probably benign	Het
Epb41l4a	A	G	18: 34,013,326 (GRCm39)	F116S	probably damaging	Het
Ext1	T	C	15: 52,969,502 (GRCm39)	N362S	probably damaging	Het
Fam227a	C	A	15: 79,528,189 (GRCm39)	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,782,759 (GRCm39)	L111F	probably damaging	Het
Fat2	T	C	11: 55,173,625 (GRCm39)	T2363A	probably benign	Het
Fat3	A	T	9: 15,908,228 (GRCm39)	N2591K	probably damaging	Het
Frem2	A	G	3: 53,560,436 (GRCm39)	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,400,424 (GRCm39)	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,823,918 (GRCm39)		noncoding transcript	Het
Galnt3	A	G	2: 65,937,573 (GRCm39)	S46P	possibly damaging	Het
Gmeb2	A	G	2: 180,895,766 (GRCm39)	V468A	possibly damaging	Het
Herc2	C	T	7: 55,869,563 (GRCm39)	R4271*	probably null	Het
Il5	C	A	11: 53,614,733 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,818 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,556,453 (GRCm39)	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,670,126 (GRCm39)	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,690,922 (GRCm39)	V281M	probably benign	Het
Lcp2	T	C	11: 34,037,229 (GRCm39)	L391P	probably benign	Het
Lrrc66	T	C	5: 73,765,030 (GRCm39)	Y671C	probably benign	Het
Mettl23	T	C	11: 116,740,120 (GRCm39)	V197A	possibly damaging	Het
Mmp15	C	A	8: 96,097,400 (GRCm39)	D456E	probably benign	Het
Mospd4	T	C	18: 46,598,848 (GRCm39)		noncoding transcript	Het
Mov10l1	C	A	15: 88,889,515 (GRCm39)	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,453,631 (GRCm39)	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,233,933 (GRCm39)		probably null	Het
Mybbp1a	T	C	11: 72,339,674 (GRCm39)	V919A	possibly damaging	Het
Mycbpap	A	T	11: 94,404,338 (GRCm39)		probably benign	Het
Naip6	G	A	13: 100,433,432 (GRCm39)	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,049,544 (GRCm39)	M50K	probably benign	Het
Ntsr2	G	T	12: 16,703,696 (GRCm39)	G66W	probably damaging	Het
Obscn	T	C	11: 58,885,914 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or4c11	T	A	2: 88,695,229 (GRCm39)	N93K	probably benign	Het
Or4c114	T	A	2: 88,904,956 (GRCm39)	I160F	probably benign	Het
Or6c33	T	C	10: 129,853,965 (GRCm39)	V245A	probably damaging	Het
Or6k14	G	A	1: 173,927,965 (GRCm39)	G314R	probably benign	Het
Otud4	T	A	8: 80,396,626 (GRCm39)	H628Q	probably benign	Het
Padi6	T	C	4: 140,456,240 (GRCm39)	T585A	probably benign	Het
Pex16	G	T	2: 92,205,937 (GRCm39)	R10L	probably damaging	Het
Pitpnm2	A	G	5: 124,269,152 (GRCm39)		probably benign	Het
Pom121l2	A	G	13: 22,167,375 (GRCm39)	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,613,759 (GRCm39)	M470K	probably benign	Het
Prkag2	T	A	5: 25,233,503 (GRCm39)	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,383,447 (GRCm39)	M38V	probably benign	Het
Prpf18	T	A	2: 4,648,572 (GRCm39)	I85F	possibly damaging	Het
Psg27	A	G	7: 18,294,636 (GRCm39)		probably benign	Het
Relt	A	G	7: 100,497,991 (GRCm39)		probably benign	Het
Rskr	T	C	11: 78,182,362 (GRCm39)	L57P	probably benign	Het
Serpina3b	A	T	12: 104,096,929 (GRCm39)	N70I	probably damaging	Het
Slc19a3	T	C	1: 83,000,286 (GRCm39)	S244G	probably benign	Het
Slc39a5	T	C	10: 128,235,716 (GRCm39)	T81A	possibly damaging	Het
Slc7a2	G	A	8: 41,357,563 (GRCm39)	G277D	probably damaging	Het
Slc9c1	C	T	16: 45,420,250 (GRCm39)		probably benign	Het
Slx1b	A	G	7: 126,291,753 (GRCm39)	F104L	probably benign	Het
Smg6	G	A	11: 74,820,527 (GRCm39)	S266N	probably damaging	Het
Spata9	T	C	13: 76,146,614 (GRCm39)	V162A	possibly damaging	Het
Szrd1	T	C	4: 140,846,055 (GRCm39)	I47V	probably benign	Het
Tha1	G	T	11: 117,759,401 (GRCm39)	L363M	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Tmem132d	C	T	5: 127,866,849 (GRCm39)	G684R	probably damaging	Het
Trim55	G	A	3: 19,725,142 (GRCm39)	G220S	probably benign	Het
Ttn	A	G	2: 76,600,874 (GRCm39)	L18836P	probably damaging	Het
Ubn1	G	T	16: 4,890,048 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,643,228 (GRCm39)	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,286,231 (GRCm39)	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,990,526 (GRCm39)	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,282,412 (GRCm39)	C735S	probably damaging	Het
Vwf	A	T	6: 125,543,281 (GRCm39)	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910 (GRCm39)	N16S	probably damaging	Het
Zfp444	C	T	7: 6,192,408 (GRCm39)	T142I	probably benign	Het
Zfp804a	A	G	2: 81,884,135 (GRCm39)	M1V	probably null	Het
Zfp936	T	G	7: 42,838,734 (GRCm39)	I67S	probably benign	Het
Zfp948	A	T	17: 21,807,260 (GRCm39)	N151Y	unknown	Het

Other mutations in Npr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Npr2	APN	4	43,641,612 (GRCm39)	missense	possibly damaging	0.51
IGL01116:Npr2	APN	4	43,640,248 (GRCm39)	missense	probably damaging	0.99
IGL01447:Npr2	APN	4	43,640,554 (GRCm39)	missense	possibly damaging	0.93
IGL02412:Npr2	APN	4	43,647,005 (GRCm39)	missense	probably damaging	0.97
IGL02449:Npr2	APN	4	43,646,641 (GRCm39)	missense	probably damaging	1.00
IGL03120:Npr2	APN	4	43,643,133 (GRCm39)	missense	probably damaging	0.99
IGL03351:Npr2	APN	4	43,640,652 (GRCm39)	missense	probably benign	0.36
Anterior	UTSW	4	43,643,622 (GRCm39)	missense	probably damaging	1.00
palmar	UTSW	4	43,647,553 (GRCm39)	missense	probably damaging	1.00
Plantar	UTSW	4	43,640,597 (GRCm39)	missense	probably damaging	1.00
Ventral	UTSW	4	43,641,254 (GRCm39)	missense	probably damaging	1.00
R0066:Npr2	UTSW	4	43,632,329 (GRCm39)	missense	probably benign	0.00
R0201:Npr2	UTSW	4	43,641,617 (GRCm39)	missense	probably damaging	0.98
R0309:Npr2	UTSW	4	43,640,904 (GRCm39)	unclassified	probably benign
R0440:Npr2	UTSW	4	43,650,315 (GRCm39)	missense	probably damaging	0.99
R0464:Npr2	UTSW	4	43,640,597 (GRCm39)	splice site	probably null
R0511:Npr2	UTSW	4	43,632,801 (GRCm39)	missense	probably benign	0.00
R0576:Npr2	UTSW	4	43,640,947 (GRCm39)	missense	probably benign	0.01
R0630:Npr2	UTSW	4	43,641,219 (GRCm39)	missense	probably benign	0.18
R0690:Npr2	UTSW	4	43,646,991 (GRCm39)	missense	probably damaging	0.98
R1079:Npr2	UTSW	4	43,643,654 (GRCm39)	missense	probably damaging	1.00
R1140:Npr2	UTSW	4	43,648,353 (GRCm39)	missense	possibly damaging	0.87
R1171:Npr2	UTSW	4	43,647,260 (GRCm39)	missense	possibly damaging	0.52
R1741:Npr2	UTSW	4	43,643,350 (GRCm39)	missense	probably damaging	1.00
R1848:Npr2	UTSW	4	43,632,384 (GRCm39)	missense	probably benign
R1864:Npr2	UTSW	4	43,641,258 (GRCm39)	missense	probably benign	0.30
R1919:Npr2	UTSW	4	43,640,578 (GRCm39)	missense	probably damaging	1.00
R2054:Npr2	UTSW	4	43,646,560 (GRCm39)	missense	probably damaging	0.99
R2106:Npr2	UTSW	4	43,644,329 (GRCm39)	missense	probably damaging	1.00
R2143:Npr2	UTSW	4	43,648,166 (GRCm39)	missense	probably damaging	1.00
R2306:Npr2	UTSW	4	43,633,609 (GRCm39)	missense	probably damaging	1.00
R2372:Npr2	UTSW	4	43,650,432 (GRCm39)	missense	probably damaging	1.00
R2889:Npr2	UTSW	4	43,641,600 (GRCm39)	missense	probably benign	0.26
R3076:Npr2	UTSW	4	43,640,182 (GRCm39)	missense	probably damaging	1.00
R3078:Npr2	UTSW	4	43,640,182 (GRCm39)	missense	probably damaging	1.00
R3711:Npr2	UTSW	4	43,643,378 (GRCm39)	missense	probably benign	0.00
R3730:Npr2	UTSW	4	43,640,999 (GRCm39)	missense	possibly damaging	0.93
R4301:Npr2	UTSW	4	43,641,332 (GRCm39)	critical splice donor site	probably null
R4352:Npr2	UTSW	4	43,646,592 (GRCm39)	missense	probably damaging	1.00
R4412:Npr2	UTSW	4	43,644,150 (GRCm39)	missense	probably damaging	0.99
R4583:Npr2	UTSW	4	43,633,522 (GRCm39)	splice site	probably null
R4593:Npr2	UTSW	4	43,647,323 (GRCm39)	unclassified	probably benign
R5042:Npr2	UTSW	4	43,647,002 (GRCm39)	missense	probably damaging	1.00
R5213:Npr2	UTSW	4	43,640,673 (GRCm39)	critical splice donor site	probably null
R5546:Npr2	UTSW	4	43,650,150 (GRCm39)	missense	probably damaging	1.00
R5784:Npr2	UTSW	4	43,632,801 (GRCm39)	missense	probably benign	0.00
R5787:Npr2	UTSW	4	43,633,593 (GRCm39)	missense	possibly damaging	0.69
R6364:Npr2	UTSW	4	43,643,622 (GRCm39)	missense	probably damaging	1.00
R6925:Npr2	UTSW	4	43,647,553 (GRCm39)	missense	probably damaging	1.00
R6949:Npr2	UTSW	4	43,640,597 (GRCm39)	missense	probably damaging	1.00
R7380:Npr2	UTSW	4	43,641,254 (GRCm39)	missense	probably damaging	1.00
R7432:Npr2	UTSW	4	43,647,155 (GRCm39)	missense	probably damaging	0.96
R7500:Npr2	UTSW	4	43,650,415 (GRCm39)	missense	probably damaging	1.00
R8235:Npr2	UTSW	4	43,641,603 (GRCm39)	missense	probably benign	0.09
R8292:Npr2	UTSW	4	43,643,086 (GRCm39)	missense	possibly damaging	0.70
R9310:Npr2	UTSW	4	43,632,404 (GRCm39)	missense	probably benign	0.01
R9684:Npr2	UTSW	4	43,632,491 (GRCm39)	missense	probably damaging	1.00
R9746:Npr2	UTSW	4	43,633,527 (GRCm39)	missense	possibly damaging	0.64
Z1176:Npr2	UTSW	4	43,650,720 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGAACGATTTCAACTGGAACCAC -3'
(R):5'- AAGTGTCACCACCTAACAGGACGG -3'

Sequencing Primer
(F):5'- ACTTATCCCCACGGGAGTC -3'
(R):5'- AGGCTCTGAAATTAGTGCCC -3'

Posted On

2013-05-23