Incidental Mutation 'R9280:Glul'
ID 703534
Institutional Source Beutler Lab
Gene Symbol Glul
Ensembl Gene ENSMUSG00000026473
Gene Name glutamate-ammonia ligase
Synonyms Glns, GS
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9280 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 153775692-153785469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153783611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 269 (C269R)
Ref Sequence ENSEMBL: ENSMUSP00000083375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086199] [ENSMUST00000139476] [ENSMUST00000140685]
AlphaFold P15105
Predicted Effect probably benign
Transcript: ENSMUST00000086199
AA Change: C269R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083375
Gene: ENSMUSG00000026473
AA Change: C269R

DomainStartEndE-ValueType
Pfam:Gln-synt_N 24 104 1.1e-15 PFAM
Gln-synt_C 110 359 6.09e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139476
SMART Domains Protein: ENSMUSP00000114377
Gene: ENSMUSG00000026473

DomainStartEndE-ValueType
Pfam:Gln-synt_N 24 104 8.8e-23 PFAM
Pfam:Gln-synt_C 110 199 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140685
SMART Domains Protein: ENSMUSP00000123157
Gene: ENSMUSG00000026473

DomainStartEndE-ValueType
Pfam:Gln-synt_N 24 104 1.7e-23 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Embryos homozygous for a reporter/null allele are not viable after E3.5; however, mutant E2.5 embryonic cells can survive in vitro if provided with glutamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp G T 6: 125,039,938 (GRCm39) V514L probably damaging Het
Actl11 A G 9: 107,808,573 (GRCm39) I965M probably damaging Het
Ank3 A T 10: 69,818,021 (GRCm39) S1468C possibly damaging Het
Aoc1l1 A G 6: 48,955,116 (GRCm39) D652G possibly damaging Het
Apobec3 A C 15: 79,791,082 (GRCm39) N392T Het
Ccdc33 A T 9: 57,965,549 (GRCm39) M591K probably benign Het
Ccdc39 T C 3: 33,870,153 (GRCm39) E689G probably damaging Het
Cnot1 A T 8: 96,497,227 (GRCm39) M250K probably benign Het
Crppa T A 12: 36,571,975 (GRCm39) S344R probably benign Het
Ctbs A T 3: 146,160,142 (GRCm39) Y57F probably damaging Het
Dchs2 A G 3: 83,189,255 (GRCm39) I1540V possibly damaging Het
Dnah8 A T 17: 31,004,071 (GRCm39) Q3651H possibly damaging Het
Eif2a A G 3: 58,447,009 (GRCm39) probably benign Het
Entpd2 A G 2: 25,289,511 (GRCm39) N331S possibly damaging Het
F830045P16Rik G A 2: 129,314,774 (GRCm39) P168S probably damaging Het
Fam76b A T 9: 13,751,012 (GRCm39) H302L possibly damaging Het
Fancm A G 12: 65,153,612 (GRCm39) E1356G probably benign Het
Fat2 G A 11: 55,201,523 (GRCm39) T517I probably benign Het
Gm3404 C T 5: 146,462,756 (GRCm39) H40Y possibly damaging Het
Grb7 T C 11: 98,345,248 (GRCm39) F435S probably damaging Het
Ide A T 19: 37,295,490 (GRCm39) Y191N Het
Ide T C 19: 37,307,801 (GRCm39) probably benign Het
Ighv6-3 T A 12: 114,355,420 (GRCm39) T90S probably damaging Het
Il23r A G 6: 67,429,410 (GRCm39) C311R probably damaging Het
Ilf2 A G 3: 90,394,922 (GRCm39) E390G unknown Het
Ints1 C T 5: 139,750,469 (GRCm39) C896Y probably damaging Het
Ipcef1 T C 10: 6,850,736 (GRCm39) E289G probably benign Het
Kbtbd2 G A 6: 56,755,997 (GRCm39) R580W probably damaging Het
Kif21b T C 1: 136,099,445 (GRCm39) probably null Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mmp27 A T 9: 7,579,812 (GRCm39) I429L probably benign Het
Mmp8 A G 9: 7,567,292 (GRCm39) D431G possibly damaging Het
Mpeg1 A G 19: 12,439,828 (GRCm39) T429A probably benign Het
Mterf1a A T 5: 3,941,539 (GRCm39) Y110N probably damaging Het
Myh4 G A 11: 67,146,135 (GRCm39) A1398T probably damaging Het
Nr3c2 T A 8: 77,635,973 (GRCm39) M358K probably benign Het
Nup50l A C 6: 96,141,982 (GRCm39) L354R probably damaging Het
Or5d14 A T 2: 87,880,458 (GRCm39) F170Y probably damaging Het
Or5g25 G A 2: 85,478,504 (GRCm39) R54* probably null Het
Or7e173 A C 9: 19,938,639 (GRCm39) S198R probably benign Het
Otof A G 5: 30,528,894 (GRCm39) F1838S probably damaging Het
Pappa2 G A 1: 158,675,533 (GRCm39) T1071I possibly damaging Het
Pcdhb15 A G 18: 37,607,794 (GRCm39) D342G probably damaging Het
Pcdhgb7 T C 18: 37,886,585 (GRCm39) L585P probably damaging Het
Pde1c A T 6: 56,114,505 (GRCm39) S469R probably benign Het
Pla2g6 A G 15: 79,197,314 (GRCm39) F87L probably benign Het
Rag2 A T 2: 101,460,145 (GRCm39) M152L probably benign Het
Rasa1 C T 13: 85,436,732 (GRCm39) A99T unknown Het
Rasgrp1 T C 2: 117,113,132 (GRCm39) N760S probably benign Het
Rgsl1 A T 1: 153,669,898 (GRCm39) M232K probably benign Het
Ryr1 G A 7: 28,802,389 (GRCm39) H744Y probably damaging Het
Slc1a4 A G 11: 20,282,325 (GRCm39) S50P probably damaging Het
Slc25a36 A C 9: 96,982,233 (GRCm39) L34R probably damaging Het
Slc39a12 A T 2: 14,401,003 (GRCm39) I127F probably benign Het
Slco1a8 A G 6: 141,939,978 (GRCm39) L175P possibly damaging Het
Sntb1 T C 15: 55,769,771 (GRCm39) T73A probably benign Het
Tbc1d14 T C 5: 36,680,268 (GRCm39) probably benign Het
Tll2 T A 19: 41,077,309 (GRCm39) E819V possibly damaging Het
Trappc13 C T 13: 104,290,809 (GRCm39) A181T probably benign Het
Trbj1-1 A G 6: 41,510,830 (GRCm39) R11G Het
Ubash3b A C 9: 41,072,877 (GRCm39) I12S unknown Het
Usp37 T C 1: 74,489,699 (GRCm39) K828E probably damaging Het
Usp8 G C 2: 126,561,944 (GRCm39) S46T unknown Het
Zfp418 A G 7: 7,184,408 (GRCm39) T124A possibly damaging Het
Zfp87 T C 13: 74,520,803 (GRCm39) T92A probably benign Het
Other mutations in Glul
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Glul APN 1 153,782,222 (GRCm39) missense probably benign 0.01
IGL02881:Glul APN 1 153,782,862 (GRCm39) missense probably benign 0.00
R0512:Glul UTSW 1 153,781,132 (GRCm39) intron probably benign
R1455:Glul UTSW 1 153,782,845 (GRCm39) splice site probably null
R1589:Glul UTSW 1 153,781,284 (GRCm39) intron probably benign
R1922:Glul UTSW 1 153,783,070 (GRCm39) missense probably benign 0.05
R2223:Glul UTSW 1 153,782,243 (GRCm39) critical splice donor site probably null
R3115:Glul UTSW 1 153,783,038 (GRCm39) missense possibly damaging 0.56
R4498:Glul UTSW 1 153,782,849 (GRCm39) nonsense probably null
R4541:Glul UTSW 1 153,778,782 (GRCm39) nonsense probably null
R4595:Glul UTSW 1 153,778,796 (GRCm39) missense possibly damaging 0.95
R4825:Glul UTSW 1 153,778,790 (GRCm39) missense probably benign 0.00
R5714:Glul UTSW 1 153,782,243 (GRCm39) unclassified probably benign
R6058:Glul UTSW 1 153,783,087 (GRCm39) missense probably benign 0.03
R6101:Glul UTSW 1 153,782,177 (GRCm39) nonsense probably null
R6105:Glul UTSW 1 153,782,177 (GRCm39) nonsense probably null
R6517:Glul UTSW 1 153,783,779 (GRCm39) missense probably benign 0.10
R8076:Glul UTSW 1 153,782,868 (GRCm39) missense possibly damaging 0.91
R8695:Glul UTSW 1 153,778,769 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ACTTAATTCTTACTGGTGGGAAGAGG -3'
(R):5'- GGTCACAATTGGCAGAAGGC -3'

Sequencing Primer
(F):5'- AGGCGAGTGATTGGGGGTC -3'
(R):5'- GCCGACGGTCTTCAAAGTAG -3'
Posted On 2022-03-25