Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01420:Nmur1'

80371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nmur1

Ensembl Gene

ENSMUSG00000026237

Gene Name

neuromedin U receptor 1

Synonyms

NmU-R, NMU1R, Gpr66, FM-3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

86313964-86317083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86315113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 218 (T218A)

Ref Sequence

ENSEMBL: ENSMUSP00000148301 (fasta)

Gene Model

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

AlphaFold

O55040

Predicted Effect

probably benign
Transcript: ENSMUST00000027440
AA Change: T251A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027440
Gene: ENSMUSG00000026237
AA Change: T251A

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 benign
Transcript: ENSMUST00000212058
AA Change: T274A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000212541
AA Change: T218A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,920,637 (GRCm39)		probably benign	Het
Actr6	A	T	10: 89,561,027 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,850,916 (GRCm39)	M541K	possibly damaging	Het
Adgre4	T	C	17: 56,106,785 (GRCm39)		probably benign	Het
Anxa6	T	C	11: 54,883,189 (GRCm39)	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,748,292 (GRCm39)	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,297,649 (GRCm39)	D261G	probably damaging	Het
Bche	T	C	3: 73,609,342 (GRCm39)	H28R	probably benign	Het
C2cd3	T	C	7: 100,104,065 (GRCm39)	V2026A	probably benign	Het
Cacna1d	C	T	14: 29,773,595 (GRCm39)	V1697I	probably benign	Het
Celsr2	T	C	3: 108,301,079 (GRCm39)	H2738R	probably benign	Het
Celsr3	A	G	9: 108,718,389 (GRCm39)		probably null	Het
Cep152	A	T	2: 125,405,572 (GRCm39)	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,470,137 (GRCm39)	I248F	probably benign	Het
Clcnka	C	A	4: 141,116,643 (GRCm39)	R536L	probably benign	Het
Dao	T	A	5: 114,161,881 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,175,367 (GRCm39)	S585P	possibly damaging	Het
Dysf	C	T	6: 84,126,741 (GRCm39)	Q1333*	probably null	Het
Eps8l2	T	A	7: 140,937,576 (GRCm39)	S397T	probably benign	Het
Fap	A	G	2: 62,334,846 (GRCm39)		probably benign	Het
Fbf1	T	C	11: 116,036,822 (GRCm39)	T971A	probably benign	Het
Fbxl17	C	T	17: 63,692,047 (GRCm39)	V22M	probably damaging	Het
Fcgbpl1	T	A	7: 27,839,558 (GRCm39)	M457K	probably benign	Het
Fundc2	T	C	X: 74,434,471 (GRCm39)		probably benign	Het
Heyl	C	A	4: 123,133,967 (GRCm39)	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,871 (GRCm39)	K30E	probably benign	Het
Igsf10	T	C	3: 59,227,071 (GRCm39)	I2201V	probably benign	Het
Il34	T	C	8: 111,469,345 (GRCm39)	K157E	probably damaging	Het
Kcnj13	T	C	1: 87,316,766 (GRCm39)	T116A	probably damaging	Het
Lpl	T	C	8: 69,340,085 (GRCm39)		probably benign	Het
Mcm6	A	G	1: 128,273,612 (GRCm39)	L406P	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Nadk2	T	C	15: 9,103,072 (GRCm39)	S308P	probably damaging	Het
Nae1	G	T	8: 105,249,797 (GRCm39)	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,249,507 (GRCm39)	P1266S	probably damaging	Het
Neb	A	G	2: 52,047,389 (GRCm39)	Y6485H	probably damaging	Het
Nin	G	A	12: 70,092,188 (GRCm39)	A707V	probably benign	Het
Npr3	T	C	15: 11,858,718 (GRCm39)	N135D	probably damaging	Het
Nup107	A	T	10: 117,620,926 (GRCm39)	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,048,750 (GRCm39)	S53T	probably benign	Het
Plxdc2	T	A	2: 16,654,950 (GRCm39)	V232D	probably damaging	Het
Pou2f2	T	C	7: 24,792,377 (GRCm39)	N493D	possibly damaging	Het
Rtel1	T	C	2: 180,996,194 (GRCm39)	I750T	probably benign	Het
Sbk1	A	G	7: 125,891,184 (GRCm39)		probably null	Het
Sec24d	A	G	3: 123,143,658 (GRCm39)	N603S	probably benign	Het
Slc38a10	T	A	11: 119,997,286 (GRCm39)	E736V	probably damaging	Het
Smc6	A	G	12: 11,341,659 (GRCm39)	Y559C	probably benign	Het
Sprr4	A	T	3: 92,407,691 (GRCm39)	V37E	unknown	Het
Sptbn2	A	G	19: 4,784,153 (GRCm39)	T632A	probably benign	Het
Trim31	A	G	17: 37,209,303 (GRCm39)	M20V	probably benign	Het
Trim65	C	A	11: 116,017,335 (GRCm39)	V376L	probably damaging	Het
Ttn	T	C	2: 76,542,420 (GRCm39)	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,537,830 (GRCm39)	T503A	possibly damaging	Het
Vtn	A	T	11: 78,390,200 (GRCm39)	I9L	probably benign	Het
Zfp398	A	G	6: 47,842,868 (GRCm39)	M175V	probably benign	Het

Other mutations in Nmur1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Nmur1	APN	1	86,314,193 (GRCm39)	missense	probably damaging	0.99
IGL00494:Nmur1	APN	1	86,314,084 (GRCm39)	missense	probably benign
IGL02505:Nmur1	APN	1	86,314,057 (GRCm39)	missense	probably benign	0.00
R0391:Nmur1	UTSW	1	86,315,400 (GRCm39)	missense	probably damaging	0.99
R1235:Nmur1	UTSW	1	86,314,415 (GRCm39)	missense	probably damaging	1.00
R4213:Nmur1	UTSW	1	86,315,506 (GRCm39)	missense	probably damaging	1.00
R4432:Nmur1	UTSW	1	86,315,287 (GRCm39)	missense	probably damaging	1.00
R4583:Nmur1	UTSW	1	86,314,367 (GRCm39)	missense	possibly damaging	0.90
R4718:Nmur1	UTSW	1	86,315,463 (GRCm39)	missense	probably damaging	0.99
R6027:Nmur1	UTSW	1	86,315,053 (GRCm39)	nonsense	probably null
R7025:Nmur1	UTSW	1	86,315,570 (GRCm39)	missense	possibly damaging	0.94
R7097:Nmur1	UTSW	1	86,315,230 (GRCm39)	missense	probably damaging	1.00
R7173:Nmur1	UTSW	1	86,314,190 (GRCm39)	missense	probably benign	0.00
R7436:Nmur1	UTSW	1	86,314,100 (GRCm39)	missense	probably benign	0.04
R7601:Nmur1	UTSW	1	86,315,741 (GRCm39)	missense	probably damaging	1.00
R8920:Nmur1	UTSW	1	86,315,577 (GRCm39)	missense	probably damaging	1.00
R8985:Nmur1	UTSW	1	86,314,103 (GRCm39)	missense	probably benign	0.00
R9088:Nmur1	UTSW	1	86,315,252 (GRCm39)	missense	probably benign
R9198:Nmur1	UTSW	1	86,315,256 (GRCm39)	missense	probably benign

Posted On

2013-11-05