Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00391:Nmur1'

7419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nmur1

Ensembl Gene

ENSMUSG00000026237

Gene Name

neuromedin U receptor 1

Synonyms

Gpr66, NMU1R, NmU-R, FM-3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00391

Quality Score

Status

Chromosome

Chromosomal Location

86386303-86426228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86386471 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 381 (R381C)

Ref Sequence

ENSEMBL: ENSMUSP00000148767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027440] [ENSMUST00000212058] [ENSMUST00000212541] [ENSMUST00000212614]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027440
AA Change: R358C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027440
Gene: ENSMUSG00000026237
AA Change: R358C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	231	4.1e-8	PFAM
Pfam:7TM_GPCR_Srsx	48	349	2.6e-8	PFAM
Pfam:7tm_1	54	334	7.8e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212058
AA Change: R381C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212541
AA Change: R325C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000212614

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are healthy and viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,724,224	V990M	probably damaging	Het
Ap4b1	A	G	3: 103,821,542	T499A	probably benign	Het
Cacna2d4	T	C	6: 119,337,933		probably benign	Het
Ccr5	T	A	9: 124,124,406	D15E	possibly damaging	Het
Clca4b	A	G	3: 144,915,561	V584A	possibly damaging	Het
Cmtr1	T	C	17: 29,674,262	M85T	probably damaging	Het
Col6a3	T	A	1: 90,828,255	H104L	probably damaging	Het
Coq9	A	T	8: 94,850,517	K170M	probably damaging	Het
Elmod1	A	G	9: 53,924,398		probably null	Het
Fam47e	A	C	5: 92,579,663	E143D	probably damaging	Het
Faxc	A	G	4: 21,948,725	K146E	probably damaging	Het
Gm5346	A	T	8: 43,625,629	F519L	probably damaging	Het
Hrasls5	A	T	19: 7,619,266		probably benign	Het
Myo7b	A	C	18: 32,021,556		probably benign	Het
Nsd2	T	G	5: 33,855,733	D469E	probably damaging	Het
Osbpl6	G	A	2: 76,590,439	C786Y	probably damaging	Het
Osgin2	T	C	4: 16,006,439	Y85C	probably damaging	Het
Otof	A	G	5: 30,375,623	C1587R	probably damaging	Het
Plekha2	A	G	8: 25,057,327	V247A	probably damaging	Het
Plppr5	A	T	3: 117,671,943	N281I	possibly damaging	Het
Popdc3	A	G	10: 45,317,826		probably null	Het
Ppp1r12a	A	G	10: 108,198,848	N85D	probably damaging	Het
Serpinb8	A	G	1: 107,606,984	S262G	probably benign	Het
Sspo	G	A	6: 48,497,386	G4780R	probably damaging	Het
Ush2a	A	G	1: 188,916,061	E4621G	probably damaging	Het

Other mutations in Nmur1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Nmur1	APN	1	86386362	missense	probably benign
IGL01420:Nmur1	APN	1	86387391	missense	probably benign	0.01
IGL02505:Nmur1	APN	1	86386335	missense	probably benign	0.00
R0391:Nmur1	UTSW	1	86387678	missense	probably damaging	0.99
R1235:Nmur1	UTSW	1	86386693	missense	probably damaging	1.00
R4213:Nmur1	UTSW	1	86387784	missense	probably damaging	1.00
R4432:Nmur1	UTSW	1	86387565	missense	probably damaging	1.00
R4583:Nmur1	UTSW	1	86386645	missense	possibly damaging	0.90
R4718:Nmur1	UTSW	1	86387741	missense	probably damaging	0.99
R6027:Nmur1	UTSW	1	86387331	nonsense	probably null
R7025:Nmur1	UTSW	1	86387848	missense	possibly damaging	0.94
R7097:Nmur1	UTSW	1	86387508	missense	probably damaging	1.00
R7173:Nmur1	UTSW	1	86386468	missense	probably benign	0.00
R7436:Nmur1	UTSW	1	86386378	missense	probably benign	0.04
R7601:Nmur1	UTSW	1	86388019	missense	probably damaging	1.00

Posted On

2012-04-20