Mutagenetix > Incidental Mutation

Incidental Mutation 'R1472:Npbwr1'

164951

Institutional Source

Beutler Lab

Gene Symbol

Npbwr1

Ensembl Gene

ENSMUSG00000033774

Gene Name

neuropeptides B/W receptor 1

Synonyms

Gpr7

MMRRC Submission

039525-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1472 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

5913707-5917398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5916681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 205 (S205G)

Ref Sequence

ENSEMBL: ENSMUSP00000046233 (fasta)

Gene Model

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

AlphaFold

P49681

Predicted Effect

probably damaging
Transcript: ENSMUST00000044180
AA Change: S205G

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

SMART Domains

Protein: ENSMUSP00000046233
Gene: ENSMUSG00000033774
AA Change: S205G

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,067,552	T834M	possibly damaging	Het
Ak1	T	C	2: 32,630,301	L32P	probably damaging	Het
Ankrd24	A	G	10: 81,634,920	D61G	probably damaging	Het
Atp13a2	T	C	4: 140,993,802	S99P	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Bmp10	A	G	6: 87,433,797	I191V	probably benign	Het
C2cd6	A	T	1: 59,067,785	S294T	possibly damaging	Het
C4b	T	A	17: 34,743,769	K20*	probably null	Het
Caps2	C	T	10: 112,179,472	T139I	probably benign	Het
Cdc25a	T	C	9: 109,876,089	S34P	probably benign	Het
Cenpv	T	C	11: 62,536,295	I146V	probably benign	Het
Cep57	A	T	9: 13,821,554	F32I	probably benign	Het
Cep85	A	G	4: 134,167,400	W32R	probably damaging	Het
Cntrl	T	C	2: 35,169,317		probably null	Het
Cpd	A	G	11: 76,784,398	V1299A	probably damaging	Het
Cpne6	T	C	14: 55,514,635	V283A	probably benign	Het
Crot	A	G	5: 8,966,941	C584R	probably damaging	Het
Ctsc	A	C	7: 88,281,462	H83P	possibly damaging	Het
Dido1	T	C	2: 180,660,720	N1797S	probably benign	Het
Dlgap4	C	T	2: 156,760,901	Q148*	probably null	Het
Dnah3	T	C	7: 120,070,958	D688G	probably benign	Het
Dnmt1	T	C	9: 20,932,176	E138G	probably benign	Het
Edc4	T	A	8: 105,892,828	M1396K	probably damaging	Het
Haao	T	A	17: 83,838,838	Q69L	probably benign	Het
Hsd3b6	A	T	3: 98,807,939		probably null	Het
Itpr3	T	A	17: 27,114,225	I1937N	probably benign	Het
Kcnk15	C	A	2: 163,858,207	T103K	probably damaging	Het
Kifc3	A	G	8: 95,137,913		probably null	Het
Lama3	T	A	18: 12,482,045	F1342Y	probably benign	Het
Lilra6	A	T	7: 3,912,719	M98K	probably damaging	Het
Map3k21	T	C	8: 125,941,678	S668P	probably benign	Het
Mcpt8	T	C	14: 56,082,334	T220A	probably benign	Het
Mettl13	C	T	1: 162,537,167	V548I	possibly damaging	Het
Mfsd4b4	A	G	10: 39,891,864	M411T	probably benign	Het
Mrfap1	A	G	5: 36,796,473	S41P	possibly damaging	Het
Mroh2b	A	G	15: 4,948,655	I1302V	probably benign	Het
Mrpl45	C	T	11: 97,323,855	R123*	probably null	Het
Mstn	T	A	1: 53,061,998	I78K	probably damaging	Het
Mtdh	T	C	15: 34,114,045	S168P	possibly damaging	Het
Muc15	G	T	2: 110,731,560	V114F	probably damaging	Het
Muc6	T	C	7: 141,651,879	E112G	probably benign	Het
Myocd	G	T	11: 65,187,504	H360Q	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nav3	T	C	10: 109,727,941	E1627G	probably damaging	Het
Nlrp14	T	C	7: 107,182,703	L369P	probably benign	Het
Nlrp6	A	G	7: 140,923,495	T505A	probably damaging	Het
Nsmaf	G	A	4: 6,423,448	R307*	probably null	Het
Olfr1505	T	C	19: 13,919,844	S275P	probably damaging	Het
Olfr187	A	T	16: 59,036,557	L60Q	probably damaging	Het
Parp9	T	G	16: 35,953,680	S341A	possibly damaging	Het
Pdss2	A	G	10: 43,413,537	N346S	probably benign	Het
Pikfyve	T	A	1: 65,224,201	F503Y	probably damaging	Het
Polr1e	G	T	4: 45,028,026	A290S	probably damaging	Het
Ppp1r21	A	T	17: 88,558,605	H305L	probably damaging	Het
Prss47	A	G	13: 65,049,289	L117P	probably damaging	Het
Psmb2	A	G	4: 126,687,032	Y73C	probably damaging	Het
Rcn2	C	T	9: 56,056,253	P222L	probably benign	Het
Rnf144b	T	C	13: 47,242,885	Y233H	probably damaging	Het
Rnf17	T	C	14: 56,427,979	L196P	probably damaging	Het
Sik2	A	G	9: 51,008,811	I22T	probably damaging	Het
Sis	A	G	3: 72,889,027	V1807A	probably benign	Het
Slc1a2	T	A	2: 102,737,909	I88N	probably damaging	Het
Slc22a22	A	G	15: 57,247,520	F437S	probably benign	Het
Slc39a13	A	T	2: 91,068,705	C20*	probably null	Het
Sos2	C	T	12: 69,585,316		probably null	Het
Sst	A	G	16: 23,890,698	V16A	probably benign	Het
Stab1	C	T	14: 31,141,586	G2073D	probably benign	Het
Stxbp1	A	T	2: 32,794,636	S594T	probably benign	Het
Sugct	A	T	13: 17,452,546	C241S	probably benign	Het
Svil	T	A	18: 5,048,950	C76S	probably benign	Het
Tcaf1	A	G	6: 42,686,448	V166A	possibly damaging	Het
Tmem131	A	T	1: 36,816,241	N801K	possibly damaging	Het
Tox3	T	C	8: 90,254,345	N277S	probably damaging	Het
Tril	G	T	6: 53,818,027	R737S	probably damaging	Het
Trpm2	C	A	10: 77,966,007	V75L	probably damaging	Het
Tshz1	A	C	18: 84,013,805	L826R	possibly damaging	Het
Ttn	C	T	2: 76,766,852	V19906I	probably damaging	Het
Wnt5a	C	T	14: 28,518,504	R184*	probably null	Het
Wnt5b	G	A	6: 119,433,481	R333C	probably damaging	Het
Zbtb6	T	C	2: 37,429,344	T191A	probably benign	Het
Zc3h4	A	G	7: 16,434,770	N935D	unknown	Het
Zc3h7a	C	T	16: 11,161,026	R95H	probably damaging	Het
Zfp110	T	C	7: 12,848,541	V372A	possibly damaging	Het
Zmym2	C	T	14: 56,911,183	S318L	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
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
R6379:Npbwr1	UTSW	1	5917219	missense	probably benign	0.03
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'- AACAAGGTCACGCGCTTCTTGG -3'
(R):5'- TGTGCAAGCTCATTGTAGCCGTC -3'

Sequencing Primer
(F):5'- TTGGCACGATCCAGGGC -3'
(R):5'- GACCGATACCTGGTGGTTC -3'

Posted On

2014-03-28