Mutagenetix > Incidental Mutation

Incidental Mutation 'R8441:Npbwr1'

654187

Institutional Source

Beutler Lab

Gene Symbol

Npbwr1

Ensembl Gene

ENSMUSG00000033774

Gene Name

neuropeptides B/W receptor 1

Synonyms

Gpr7

MMRRC Submission

067885-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8441 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5983926-5987617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5987397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 39 (A39V)

Ref Sequence

ENSEMBL: ENSMUSP00000046233 (fasta)

Gene Model

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

AlphaFold

P49681

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044180
AA Change: A39V

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046233
Gene: ENSMUSG00000033774
AA Change: A39V

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,087,574 (GRCm39)	Y1064H	possibly damaging	Het
Ahrr	T	C	13: 74,362,182 (GRCm39)	D567G	probably benign	Het
Aldh1b1	T	A	4: 45,802,465 (GRCm39)	M1K	probably null	Het
Ankrd12	A	T	17: 66,349,546 (GRCm39)	S96T	probably benign	Het
Arhgef10	A	T	8: 15,041,237 (GRCm39)		probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cmpk2	G	A	12: 26,527,204 (GRCm39)	A398T	probably benign	Het
Cpn2	A	G	16: 30,078,849 (GRCm39)	L284P	probably damaging	Het
Cubn	T	C	2: 13,432,658 (GRCm39)	D1221G	probably damaging	Het
Dnah7c	A	G	1: 46,572,398 (GRCm39)	K957R	probably damaging	Het
Eif1ad2	T	G	12: 87,786,384 (GRCm39)	D98E	probably benign	Het
Flnb	T	A	14: 7,896,488 (GRCm38)	V893E	probably benign	Het
Flrt3	C	A	2: 140,502,546 (GRCm39)	V361L	probably benign	Het
Fnta	G	A	8: 26,501,209 (GRCm39)	R104*	probably null	Het
Ggt1	C	T	10: 75,415,185 (GRCm39)	T233I	possibly damaging	Het
Gpr37l1	A	T	1: 135,094,875 (GRCm39)	V123E	probably damaging	Het
Grpel1	A	G	5: 36,622,556 (GRCm39)	R7G	probably benign	Het
H2-M10.5	A	T	17: 37,084,199 (GRCm39)	I54L	probably benign	Het
Mapk8ip3	A	T	17: 25,139,474 (GRCm39)		probably benign	Het
Mcm3	T	C	1: 20,884,690 (GRCm39)	D271G	probably benign	Het
Naip6	A	G	13: 100,422,265 (GRCm39)	V1256A	possibly damaging	Het
Nipbl	A	G	15: 8,322,599 (GRCm39)	V2604A	probably benign	Het
Nlrp1b	T	A	11: 71,073,204 (GRCm39)	D213V	probably damaging	Het
Nr6a1	T	C	2: 38,632,888 (GRCm39)	D191G	probably benign	Het
Olfml1	T	G	7: 107,166,977 (GRCm39)	V2G	probably benign	Het
Or4k38	A	T	2: 111,166,131 (GRCm39)	Y97*	probably null	Het
Or5b105	T	A	19: 13,080,020 (GRCm39)	Y216F	probably damaging	Het
Otof	T	C	5: 30,538,200 (GRCm39)	K1175E	probably damaging	Het
Pira13	C	A	7: 3,826,301 (GRCm39)	E231*	probably null	Het
Plekhg2	C	T	7: 28,060,291 (GRCm39)	V989I	probably benign	Het
Prkcq	A	G	2: 11,253,037 (GRCm39)	D229G	probably benign	Het
Ptprf	A	T	4: 118,075,255 (GRCm39)		probably benign	Het
Rest	G	T	5: 77,429,766 (GRCm39)	Q728H	possibly damaging	Het
Scube1	A	T	15: 83,494,423 (GRCm39)	I868N	probably damaging	Het
Spcs3	A	G	8: 54,981,375 (GRCm39)		probably null	Het
Speg	A	G	1: 75,387,976 (GRCm39)	S1445G	possibly damaging	Het
Spmap2	C	A	10: 79,412,510 (GRCm39)	R327L	probably damaging	Het
Tmem145	T	C	7: 25,008,200 (GRCm39)	F261S	possibly damaging	Het
Trav9d-4	A	G	14: 53,221,284 (GRCm39)	S93G	probably benign	Het
Trbv5	T	A	6: 41,039,517 (GRCm39)	C41S	probably damaging	Het
Trpm5	A	G	7: 142,626,171 (GRCm39)	S1131P	possibly damaging	Het
Ttc28	C	T	5: 111,325,507 (GRCm39)	R313*	probably null	Het
Ubap2l	T	C	3: 89,920,007 (GRCm39)	T853A	unknown	Het
Xirp2	T	C	2: 67,343,159 (GRCm39)	V1800A	possibly damaging	Het
Zfhx2	A	G	14: 55,303,985 (GRCm39)	L1333P	possibly damaging	Het

Other mutations in Npbwr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Npbwr1	APN	1	5,987,184 (GRCm39)	missense	possibly damaging	0.55
R0140:Npbwr1	UTSW	1	5,986,840 (GRCm39)	missense	probably damaging	1.00
R0585:Npbwr1	UTSW	1	5,986,677 (GRCm39)	missense	possibly damaging	0.72
R0827:Npbwr1	UTSW	1	5,987,008 (GRCm39)	missense	possibly damaging	0.85
R1472:Npbwr1	UTSW	1	5,986,900 (GRCm39)	missense	probably damaging	1.00
R1646:Npbwr1	UTSW	1	5,987,473 (GRCm39)	missense	probably benign	0.01
R2001:Npbwr1	UTSW	1	5,987,394 (GRCm39)	missense	possibly damaging	0.81
R2004:Npbwr1	UTSW	1	5,986,570 (GRCm39)	missense	probably damaging	1.00
R2005:Npbwr1	UTSW	1	5,986,570 (GRCm39)	missense	probably damaging	1.00
R2006:Npbwr1	UTSW	1	5,986,570 (GRCm39)	missense	probably damaging	1.00
R2259:Npbwr1	UTSW	1	5,986,877 (GRCm39)	missense	probably damaging	1.00
R4172:Npbwr1	UTSW	1	5,987,155 (GRCm39)	missense	probably damaging	1.00
R5614:Npbwr1	UTSW	1	5,987,030 (GRCm39)	missense	probably damaging	1.00
R6379:Npbwr1	UTSW	1	5,987,438 (GRCm39)	missense	probably benign	0.03
R7022:Npbwr1	UTSW	1	5,987,319 (GRCm39)	missense	probably damaging	1.00
R7462:Npbwr1	UTSW	1	5,987,151 (GRCm39)	missense	probably damaging	1.00
R7678:Npbwr1	UTSW	1	5,986,927 (GRCm39)	missense	probably benign	0.03
R8547:Npbwr1	UTSW	1	5,987,446 (GRCm39)	missense	possibly damaging	0.53
R8694:Npbwr1	UTSW	1	5,986,617 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCTTGCACATGACCTCC -3'
(R):5'- CATAAACCTCGAGTTTCGCGG -3'

Sequencing Primer
(F):5'- CAGGAAGTCCGCGATGTTG -3'
(R):5'- GGGCTGCTGAGTGGAATCC -3'

Posted On

2020-10-20