Mutagenetix > Incidental Mutation

Incidental Mutation 'R6379:Npbwr1'

515169

Institutional Source

Beutler Lab

Gene Symbol

Npbwr1

Ensembl Gene

ENSMUSG00000033774

Gene Name

neuropeptides B/W receptor 1

Synonyms

Gpr7

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6379 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

5913707-5917398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5917219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 25 (N25K)

Ref Sequence

ENSEMBL: ENSMUSP00000046233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044180]

AlphaFold

P49681

Predicted Effect

probably benign
Transcript: ENSMUST00000044180
AA Change: N25K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000046233
Gene: ENSMUSG00000033774
AA Change: N25K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srw	44	327	1.3e-7	PFAM
Pfam:7TM_GPCR_Srsx	50	324	8.5e-10	PFAM
Pfam:7tm_1	56	309	1e-48	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null males develop adult-onset obesity, are hyperphagic, and have decreased energy expenditure and locomotor activity. Plasma levels of glucose, leptin and insulin are elevated in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,243,734	I99F	probably benign	Het
2010111I01Rik	T	A	13: 63,068,243	I443K	probably damaging	Het
6820408C15Rik	A	T	2: 152,427,992	R21S	probably benign	Het
9130011E15Rik	A	T	19: 45,921,697	V472D	possibly damaging	Het
9430007A20Rik	G	T	4: 144,522,342	R93L	probably benign	Het
9530053A07Rik	A	C	7: 28,157,592	T2122P	probably damaging	Het
Adcy5	A	T	16: 35,293,999	T991S	probably benign	Het
Aldh18a1	A	T	19: 40,577,770		probably null	Het
Anxa1	T	C	19: 20,373,715	*347W	probably null	Het
Arid1a	G	T	4: 133,680,927	L2090I	unknown	Het
Bambi	T	A	18: 3,512,198	L194Q	probably damaging	Het
Card9	A	G	2: 26,356,777	V353A	probably damaging	Het
Ccdc60	C	A	5: 116,131,023		probably null	Het
Ccdc71	A	G	9: 108,463,612	K208R	possibly damaging	Het
Cdh12	T	C	15: 21,492,657	V254A	probably benign	Het
Cep295nl	T	A	11: 118,333,730	N96I	probably benign	Het
Ces1f	C	A	8: 93,279,651	C17F	probably benign	Het
Clic6	C	A	16: 92,539,535	T577K	probably damaging	Het
Col28a1	T	C	6: 8,012,996	M1019V	probably benign	Het
Ctnnd2	C	A	15: 30,634,698	S73Y	probably damaging	Het
Daam1	C	T	12: 71,951,938	L556F	unknown	Het
Dchs2	A	C	3: 83,355,146	N2907T	probably damaging	Het
Dlgap3	A	C	4: 127,234,974	E829A	probably damaging	Het
Dpysl5	A	T	5: 30,777,973		probably null	Het
Draxin	C	A	4: 148,107,943	C304F	probably damaging	Het
Eif3j1	A	G	2: 122,047,524	D131G	possibly damaging	Het
Fads1	T	C	19: 10,183,187	Y46H	probably damaging	Het
Figla	T	A	6: 86,018,580	I72K	probably damaging	Het
Fnbp4	T	A	2: 90,751,124	S174T	probably benign	Het
Foxn3	C	A	12: 99,196,278	A455S	probably benign	Het
Fyn	C	T	10: 39,455,074		probably benign	Het
Gm17727	T	A	9: 35,778,085		probably benign	Het
Gtse1	G	A	15: 85,864,224	G277S	probably benign	Het
Hist1h2bn	T	A	13: 21,754,418	V99E	probably benign	Het
Icam4	C	A	9: 21,029,782	A110E	probably damaging	Het
Itih3	G	A	14: 30,909,724	S802L	probably damaging	Het
Kcng4	T	A	8: 119,633,620	R6*	probably null	Het
Kmt2c	A	T	5: 25,359,341	C977S	probably damaging	Het
Lrrc8d	A	T	5: 105,812,809	M362L	probably benign	Het
Mtus2	T	C	5: 148,077,198	I267T	probably benign	Het
Nab1	A	G	1: 52,480,997	V275A	probably damaging	Het
Nfasc	G	A	1: 132,570,542	Q1308*	probably null	Het
Nop9	T	C	14: 55,745,792	S7P	possibly damaging	Het
Nptx2	T	C	5: 144,553,442	L227P	probably damaging	Het
Nrg1	T	C	8: 32,883,721		probably benign	Het
Nup160	T	A	2: 90,702,409	C571*	probably null	Het
Nynrin	T	C	14: 55,870,391	L985P	probably damaging	Het
Obsl1	A	C	1: 75,503,143	L341R	probably damaging	Het
Olfr398	T	G	11: 73,984,273	S112R	probably damaging	Het
Phip	G	T	9: 82,913,857	N570K	probably damaging	Het
Pigx	A	T	16: 32,084,523	I240N	probably damaging	Het
Platr25	T	C	13: 62,706,237	D37G	probably damaging	Het
Ppl	A	T	16: 5,097,691	M639K	probably benign	Het
Pqlc2	G	A	4: 139,299,985	L349F	probably benign	Het
Scnn1b	T	G	7: 121,915,328	M441R	probably benign	Het
Sh3gl1	A	T	17: 56,019,143	M121K	probably damaging	Het
Slc30a4	A	T	2: 122,689,549	V132D	probably damaging	Het
Slc38a7	A	G	8: 95,848,527	S42P	probably benign	Het
Srp68	A	G	11: 116,265,401	C172R	probably damaging	Het
Suz12	A	T	11: 80,015,188	D292V	possibly damaging	Het
Sv2b	A	T	7: 75,136,300	D457E	possibly damaging	Het
Tas2r120	T	C	6: 132,657,810	V285A	probably benign	Het
Tdo2	T	A	3: 81,958,795		probably benign	Het
Them7	G	T	2: 105,284,686		probably null	Het
Tnip2	T	C	5: 34,503,635	T158A	probably damaging	Het
Tonsl	C	T	15: 76,629,742	R1209H	probably benign	Het
Trpc2	T	A	7: 102,096,091	L838*	probably null	Het
Trpm1	A	G	7: 64,199,194	I63V	probably benign	Het
Vps13d	A	T	4: 145,088,258	N90K	probably benign	Het
Ylpm1	C	T	12: 85,030,800	S1433F	probably damaging	Het
Zbtb18	A	G	1: 177,447,575	D158G	probably damaging	Het
Zfhx2	T	A	14: 55,074,338	T300S	probably benign	Het
Zscan2	T	A	7: 80,863,337	D23E	probably benign	Het

Other mutations in Npbwr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Npbwr1	APN	1	5916965	missense	possibly damaging	0.55
R0140:Npbwr1	UTSW	1	5916621	missense	probably damaging	1.00
R0585:Npbwr1	UTSW	1	5916458	missense	possibly damaging	0.72
R0827:Npbwr1	UTSW	1	5916789	missense	possibly damaging	0.85
R1472:Npbwr1	UTSW	1	5916681	missense	probably damaging	1.00
R1646:Npbwr1	UTSW	1	5917254	missense	probably benign	0.01
R2001:Npbwr1	UTSW	1	5917175	missense	possibly damaging	0.81
R2004:Npbwr1	UTSW	1	5916351	missense	probably damaging	1.00
R2005:Npbwr1	UTSW	1	5916351	missense	probably damaging	1.00
R2006:Npbwr1	UTSW	1	5916351	missense	probably damaging	1.00
R2259:Npbwr1	UTSW	1	5916658	missense	probably damaging	1.00
R4172:Npbwr1	UTSW	1	5916936	missense	probably damaging	1.00
R5614:Npbwr1	UTSW	1	5916811	missense	probably damaging	1.00
R7022:Npbwr1	UTSW	1	5917100	missense	probably damaging	1.00
R7462:Npbwr1	UTSW	1	5916932	missense	probably damaging	1.00
R7678:Npbwr1	UTSW	1	5916708	missense	probably benign	0.03
R8441:Npbwr1	UTSW	1	5917178	missense	possibly damaging	0.73
R8547:Npbwr1	UTSW	1	5917227	missense	possibly damaging	0.53
R8694:Npbwr1	UTSW	1	5916398	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGAAGAGCTCATCGGCGATAG -3'
(R):5'- GCATCCAGAGAAAAGCTGTGAC -3'

Sequencing Primer
(F):5'- TAGCCAGGTTGAGGATGAACAC -3'
(R):5'- AAGCTGTGACACTCAGGC -3'

Posted On

2018-05-04