Incidental Mutation 'R8920:Nmur1'
ID 679172
Institutional Source Beutler Lab
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 # R8920 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 86313964-86317083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86315577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 96 (Y96C)
Ref Sequence ENSEMBL: ENSMUSP00000027440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027440] [ENSMUST00000212058] [ENSMUST00000212541] [ENSMUST00000212614]
AlphaFold O55040
Predicted Effect probably damaging
Transcript: ENSMUST00000027440
AA Change: Y96C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027440
Gene: ENSMUSG00000026237
AA Change: Y96C

DomainStartEndE-ValueType
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: Y119C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212541
AA Change: Y63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212614
AA Change: Y63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa10 T A 8: 62,527,580 (GRCm39) Q160L probably benign Het
Apc2 A T 10: 80,149,934 (GRCm39) I1663L probably benign Het
Bahcc1 C G 11: 120,175,331 (GRCm39) R1802G probably damaging Het
C1qtnf1 T C 11: 118,339,068 (GRCm39) V246A possibly damaging Het
Cbl A G 9: 44,078,570 (GRCm39) M267T probably damaging Het
Cd300lf T C 11: 115,017,180 (GRCm39) K48E probably benign Het
Cfap46 G T 7: 139,232,442 (GRCm39) N840K Het
Cfap54 T A 10: 92,776,199 (GRCm39) probably null Het
Cnrip1 A C 11: 17,005,003 (GRCm39) K184N unknown Het
Dnah11 A T 12: 118,077,674 (GRCm39) L1273Q probably damaging Het
Dyrk1a T G 16: 94,460,488 (GRCm39) I48R probably benign Het
Exoc7 T C 11: 116,180,055 (GRCm39) E683G probably benign Het
Hdac1-ps A G 17: 78,799,171 (GRCm39) Y54C probably benign Het
Igtp A T 11: 58,096,999 (GRCm39) I57F probably damaging Het
Inhbb T C 1: 119,345,107 (GRCm39) N394S probably damaging Het
Jag1 T C 2: 136,931,143 (GRCm39) H663R probably benign Het
Kcna6 A G 6: 126,716,610 (GRCm39) F93S probably damaging Het
L1td1 C A 4: 98,624,864 (GRCm39) S353* probably null Het
Lgals12 T C 19: 7,576,166 (GRCm39) I253V possibly damaging Het
Lgals4 C T 7: 28,540,289 (GRCm39) R195C probably benign Het
Lrp1b A T 2: 42,213,610 (GRCm39) D67E Het
Lrrc43 T C 5: 123,639,194 (GRCm39) S408P probably benign Het
Madd T C 2: 91,007,168 (GRCm39) I315V probably benign Het
Mdn1 T C 4: 32,719,280 (GRCm39) F2281S probably damaging Het
Med13l A T 5: 118,885,543 (GRCm39) K1499* probably null Het
Myoc A G 1: 162,475,127 (GRCm39) E226G probably benign Het
Nwd2 A T 5: 63,948,863 (GRCm39) D145V probably damaging Het
Or7g18 C A 9: 18,787,394 (GRCm39) T254K probably damaging Het
Paqr8 A T 1: 21,005,245 (GRCm39) Q133L probably damaging Het
Plbd2 T C 5: 120,630,915 (GRCm39) D230G probably damaging Het
Plekha7 A G 7: 115,744,218 (GRCm39) I694T probably benign Het
Rnf139 C T 15: 58,771,529 (GRCm39) T518I possibly damaging Het
Ryr1 G T 7: 28,789,640 (GRCm39) S1498R possibly damaging Het
Senp6 T A 9: 79,999,561 (GRCm39) S72T probably benign Het
Slc12a7 C T 13: 73,946,568 (GRCm39) P554S probably damaging Het
Slc6a2 C A 8: 93,687,990 (GRCm39) R39S probably benign Het
Snrpe T G 1: 133,534,199 (GRCm39) H88P probably benign Het
Stard9 T A 2: 120,533,088 (GRCm39) V3115E probably damaging Het
Stk39 C T 2: 68,302,191 (GRCm39) V11I unknown Het
Tapbpl T C 6: 125,205,214 (GRCm39) Y244C probably damaging Het
Tpx2 A G 2: 152,726,214 (GRCm39) E393G probably damaging Het
Vmn2r100 A T 17: 19,741,620 (GRCm39) N111Y probably damaging Het
Vstm4 C T 14: 32,585,615 (GRCm39) R61C probably damaging Het
Washc2 T A 6: 116,221,615 (GRCm39) F698I possibly damaging Het
Zfp467 G A 6: 48,415,414 (GRCm39) P413S probably benign Het
Zfp532 G T 18: 65,820,390 (GRCm39) A992S probably benign Het
Zfp622 G A 15: 25,996,321 (GRCm39) W430* probably null Het
Other mutations in Nmur1
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL01420:Nmur1 APN 1 86,315,113 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- CCGTGTCATCACAGACTTGG -3'
(R):5'- TCTGAACCTTACCGATGAGGCC -3'

Sequencing Primer
(F):5'- CATCACAGACTTGGCTTGGAG -3'
(R):5'- GCAGATGAAACAGTTTGTCCC -3'
Posted On 2021-08-02