Mutagenetix > Incidental Mutations

Incidental Mutation 'R0585:Npbwr1'

55698

Institutional Source

Beutler Lab

Gene Symbol

Npbwr1

Ensembl Gene

ENSMUSG00000033774

Gene Name

neuropeptides B/W receptor 1

Synonyms

Gpr7

MMRRC Submission

038775-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0585 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

5913707-5917398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5916458 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 279 (T279I)

Ref Sequence

ENSEMBL: ENSMUSP00000046233 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044180
AA Change: T279I

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046233
Gene: ENSMUSG00000033774
AA Change: T279I

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

Meta Mutation Damage Score

0.0986

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

100% (38/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,550,723	V267A	probably benign	Het
9530003J23Rik	T	A	10: 117,238,451	I44F	possibly damaging	Het
Brdt	T	G	5: 107,356,882		probably null	Het
Ccdc162	C	T	10: 41,586,379	C1474Y	probably benign	Het
Ces2e	T	C	8: 104,929,821	S228P	probably damaging	Het
Clca1	G	T	3: 145,032,625	H41N	probably benign	Het
Cyp2c39	A	T	19: 39,536,759	I169F	probably benign	Het
Cyp2c65	A	G	19: 39,069,242	K107R	probably benign	Het
Cyp2c67	T	A	19: 39,638,694	N231Y	possibly damaging	Het
Eps8l3	G	C	3: 107,881,197	D33H	probably damaging	Het
Evi5	T	C	5: 107,813,536		probably benign	Het
Fcho1	T	C	8: 71,715,725	Y218C	probably damaging	Het
Gm3993	T	A	12: 20,072,148		probably null	Het
Gtf2ird1	A	C	5: 134,376,942	L28R	probably damaging	Het
Hsf4	A	G	8: 105,271,031	D75G	probably damaging	Het
Larp4b	A	G	13: 9,147,493	T249A	probably damaging	Het
Larp4b	A	G	13: 9,170,701	D578G	probably benign	Het
Matn3	A	T	12: 8,961,103		probably benign	Het
Myo10	T	A	15: 25,736,455	Y428N	probably damaging	Het
Nf1	T	A	11: 79,568,701	D661E	probably damaging	Het
Nktr	A	G	9: 121,754,280		probably benign	Het
Olfr665	A	C	7: 104,881,499	H264P	probably damaging	Het
Osmr	T	C	15: 6,837,793	I341V	probably benign	Het
Pan2	T	C	10: 128,310,515		probably null	Het
Pknox2	G	A	9: 36,909,760		probably benign	Het
Pla2g2d	A	C	4: 138,779,393	D50A	probably benign	Het
Ptprk	C	T	10: 28,575,668	L1051F	probably damaging	Het
Rap1gds1	G	A	3: 139,021,872	T59M	probably benign	Het
Rps5	T	C	7: 12,925,405	V41A	possibly damaging	Het
Ryr1	G	T	7: 29,036,076	D4092E	probably damaging	Het
Spic	T	C	10: 88,676,043	Y117C	probably damaging	Het
Thrap3	A	T	4: 126,178,574		probably null	Het
Tlr9	C	T	9: 106,225,076	T522I	probably benign	Het
Tspan3	A	T	9: 56,145,932		probably benign	Het
Ttn	T	C	2: 76,873,159		probably benign	Het
Zfp773	T	A	7: 7,132,575	I341L	probably benign	Het
Zmat3	G	A	3: 32,361,105	P19S	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCAGGCTGAACGGCATGACAC -3'
(R):5'- TGTGCAAGCTCATTGTAGCCGTC -3'

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

Posted On

2013-07-11