Mutagenetix > Incidental Mutations

Incidental Mutation 'R6477:Nmur2'

516854

Institutional Source

Beutler Lab

Gene Symbol

Nmur2

Ensembl Gene

ENSMUSG00000037393

Gene Name

neuromedin U receptor 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R6477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56024987-56041010 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56029591 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 276 (F276Y)

Ref Sequence

ENSEMBL: ENSMUSP00000044718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037682]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037682
AA Change: F276Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044718
Gene: ENSMUSG00000037393
AA Change: F276Y

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srw	42	337	4.7e-7	PFAM
Pfam:7TM_GPCR_Srsx	48	334	1.8e-13	PFAM
Pfam:7tm_1	54	319	5.7e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134285

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit increased chemical and thermal nociception thresholds, insensitivity to treatment with Nmu or Nms, and altered weight gain following a fast or when fed a high-fat diet that can be sex-dependent. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,257,630		probably null	Het
4933415F23Rik	A	T	1: 23,101,780	L151Q	probably benign	Het
Aatk	T	C	11: 120,018,870	D23G	probably benign	Het
Abca14	T	C	7: 120,325,102	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,502,212	V481M	probably benign	Het
Ankfy1	G	A	11: 72,730,482	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,794,022	R20*	probably null	Het
Cops7a	A	T	6: 124,960,176	V184E	probably damaging	Het
Cpa3	T	C	3: 20,239,575	E83G	possibly damaging	Het
Crls1	C	T	2: 132,861,233	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,481,817	S153R	probably damaging	Het
Ddx54	T	A	5: 120,621,778	I410N	probably damaging	Het
Dido1	T	A	2: 180,660,481	T1877S	probably benign	Het
Dip2c	A	G	13: 9,623,760	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,677,886	V681I	probably benign	Het
Dst	A	G	1: 34,208,728		probably null	Het
Eya2	A	G	2: 165,763,761	T362A	probably benign	Het
Hgs	G	A	11: 120,469,655	V60M	probably damaging	Het
Inpp4b	A	G	8: 81,844,714		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kdr	C	A	5: 75,968,841	A129S	probably benign	Het
Lhcgr	A	T	17: 88,742,373	M575K	probably damaging	Het
Lsamp	G	T	16: 42,168,165		probably benign	Het
Mcm5	T	C	8: 75,112,602	V161A	probably benign	Het
Mmp14	A	T	14: 54,437,658	H249L	probably damaging	Het
Mroh5	A	G	15: 73,790,755	S405P	probably damaging	Het
Mroh9	C	A	1: 163,076,304	L46F	probably damaging	Het
Mtrr	A	T	13: 68,570,073	H357Q	probably damaging	Het
Myrf	G	A	19: 10,228,785	P89L	probably benign	Het
Mzb1	C	T	18: 35,648,258		probably null	Het
Naip6	A	G	13: 100,316,008	S182P	probably damaging	Het
Nudt12	G	T	17: 59,011,145	S35Y	probably benign	Het
Olfr1154	A	G	2: 87,902,990	S229P	probably damaging	Het
Olfr572	T	A	7: 102,928,378	V250E	probably damaging	Het
Olfr657	T	C	7: 104,635,679	S2P	probably benign	Het
Osbpl1a	T	C	18: 12,756,261	I541V	probably benign	Het
Parp4	A	G	14: 56,647,237	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,980,659	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,536,627	T930A	probably benign	Het
Pomt1	G	A	2: 32,248,716		probably null	Het
Pramel6	A	G	2: 87,510,602	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,044,261	T83A	probably damaging	Het
Rbm27	T	A	18: 42,333,318	V915E	probably damaging	Het
Rnf114	T	A	2: 167,503,488	D10E	probably benign	Het
Sbk1	A	G	7: 126,291,178	E121G	probably damaging	Het
Senp6	A	T	9: 80,093,625	R39*	probably null	Het
Sergef	A	T	7: 46,633,826	I94N	probably benign	Het
Slc30a9	C	T	5: 67,328,524	R183W	probably benign	Het
Smurf1	C	T	5: 144,889,792	R414H	possibly damaging	Het
Sptb	A	T	12: 76,606,392	W1566R	probably damaging	Het
Tenm2	T	C	11: 36,010,507		probably null	Het
Tnni1	T	C	1: 135,805,566	V42A	probably benign	Het
Tnxb	A	G	17: 34,719,539	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,434,574	F46L	probably benign	Het
Ubqln5	G	A	7: 104,128,258	S453F	probably damaging	Het
Ubr3	A	T	2: 69,979,429	R1248*	probably null	Het
Utp20	A	G	10: 88,768,918	V1705A	probably benign	Het
Zfp60	G	A	7: 27,749,803	R632H	probably benign	Het
Zfp638	A	G	6: 83,965,578	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,480,910	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,704,167	K1355T	probably benign	Het

Other mutations in Nmur2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Nmur2	APN	11	56040777	missense	probably damaging	0.99
IGL01591:Nmur2	APN	11	56026999	missense	probably benign
IGL01960:Nmur2	APN	11	56040511	missense	probably damaging	0.99
IGL02108:Nmur2	APN	11	56040364	missense	probably benign	0.33
IGL02602:Nmur2	APN	11	56027063	missense	probably benign	0.19
PIT4677001:Nmur2	UTSW	11	56033009	missense	probably benign	0.00
R0324:Nmur2	UTSW	11	56040520	missense	probably damaging	1.00
R0458:Nmur2	UTSW	11	56040568	missense	possibly damaging	0.93
R0718:Nmur2	UTSW	11	56029498	splice site	probably benign
R1799:Nmur2	UTSW	11	56029621	missense	probably damaging	1.00
R2099:Nmur2	UTSW	11	56040763	missense	probably benign	0.00
R2263:Nmur2	UTSW	11	56029561	missense	probably damaging	0.97
R3701:Nmur2	UTSW	11	56040777	missense	probably damaging	0.99
R3705:Nmur2	UTSW	11	56040474	missense	probably damaging	1.00
R3951:Nmur2	UTSW	11	56040225	missense	probably damaging	1.00
R4083:Nmur2	UTSW	11	56040225	missense	probably damaging	1.00
R4744:Nmur2	UTSW	11	56040835	missense	probably benign	0.01
R4747:Nmur2	UTSW	11	56040279	missense	probably benign	0.05
R5288:Nmur2	UTSW	11	56040214	missense	probably damaging	1.00
R5384:Nmur2	UTSW	11	56040214	missense	probably damaging	1.00
R5579:Nmur2	UTSW	11	56033009	missense	probably benign	0.00
R6329:Nmur2	UTSW	11	56029585	missense	probably benign	0.30
R7445:Nmur2	UTSW	11	56032940	missense	probably damaging	0.97
R7580:Nmur2	UTSW	11	56026982	missense	probably benign	0.03
R7899:Nmur2	UTSW	11	56040335	missense	probably benign
R7982:Nmur2	UTSW	11	56040335	missense	probably benign
X0062:Nmur2	UTSW	11	56040849	missense	probably benign	0.01
Z1176:Nmur2	UTSW	11	56027101	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TCTTTGAATACAAATCAGCACCTGC -3'
(R):5'- GGGGTCACCTTTGCCTATAG -3'

Sequencing Primer
(F):5'- TGTTTCCATAACAGAAGGCCAG -3'
(R):5'- GCAATCATCACTTAGCCAAGGTGG -3'

Posted On

2018-05-21