Incidental Mutation 'R5228:Gldn'
ID 402737
Institutional Source Beutler Lab
Gene Symbol Gldn
Ensembl Gene ENSMUSG00000046167
Gene Name gliomedin
Synonyms CRG-L2, Crlg2
MMRRC Submission 042801-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R5228 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 54193770-54249061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54242003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 319 (T319I)
Ref Sequence ENSEMBL: ENSMUSP00000056080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056740]
AlphaFold Q8BMF8
Predicted Effect probably damaging
Transcript: ENSMUST00000056740
AA Change: T319I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056080
Gene: ENSMUSG00000046167
AA Change: T319I

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Collagen 136 195 8.3e-11 PFAM
low complexity region 199 211 N/A INTRINSIC
low complexity region 213 221 N/A INTRINSIC
low complexity region 236 261 N/A INTRINSIC
OLF 299 543 1.97e-35 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele fail to form heminodes without overt neurological abnormalities or alteration in nerve conduction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,303,545 (GRCm39) probably null Het
Agrn G T 4: 156,251,403 (GRCm39) A1864D probably damaging Het
Ahnak2 A G 12: 112,741,820 (GRCm39) S751P probably benign Het
Aifm2 T C 10: 61,568,196 (GRCm39) V201A probably damaging Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Clec2h G T 6: 128,651,749 (GRCm39) A153S probably benign Het
Dnah7a T C 1: 53,476,768 (GRCm39) probably null Het
Frmpd1 T C 4: 45,284,322 (GRCm39) S1048P probably damaging Het
Galnt16 A T 12: 80,630,822 (GRCm39) D300V probably damaging Het
Gbp8 G T 5: 105,164,051 (GRCm39) Q416K probably benign Het
Gli2 T A 1: 118,763,936 (GRCm39) D1405V probably damaging Het
Gtsf2 A G 15: 103,353,042 (GRCm39) Y45H probably damaging Het
Hmcn1 C A 1: 150,522,452 (GRCm39) V3483F probably benign Het
Hspa12b T C 2: 130,984,884 (GRCm39) V385A possibly damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Inpp4b C G 8: 82,494,744 (GRCm39) P53R probably damaging Het
Ipo7 T A 7: 109,645,969 (GRCm39) C504S probably benign Het
Iws1 A G 18: 32,221,314 (GRCm39) D549G probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Klhl40 A G 9: 121,606,867 (GRCm39) E9G probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Morc2a T C 11: 3,635,439 (GRCm39) V810A probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
N4bp2 T C 5: 65,964,861 (GRCm39) V970A probably benign Het
Pira2 T A 7: 3,847,373 (GRCm39) K105N probably benign Het
Pml G A 9: 58,127,280 (GRCm39) R61C probably damaging Het
Pms2 T C 5: 143,860,415 (GRCm39) L76P probably damaging Het
Rlbp1 T G 7: 79,027,082 (GRCm39) T193P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGG 11: 3,103,384 (GRCm39) probably benign Homo
Sh3rf2 T C 18: 42,286,246 (GRCm39) S548P possibly damaging Het
Slc4a4 A G 5: 89,304,384 (GRCm39) D609G possibly damaging Het
Slk A T 19: 47,613,771 (GRCm39) I876F probably damaging Het
Tcf20 G A 15: 82,740,156 (GRCm39) P432S probably benign Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Topors G C 4: 40,262,367 (GRCm39) L306V probably damaging Het
Trappc9 A T 15: 72,929,844 (GRCm39) S171T probably damaging Het
Ube2m G T 7: 12,769,697 (GRCm39) probably benign Het
Vmn1r37 T C 6: 66,709,282 (GRCm39) *266Q probably null Het
Vmn2r34 T C 7: 7,675,340 (GRCm39) T683A probably damaging Het
Other mutations in Gldn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Gldn APN 9 54,245,748 (GRCm39) missense probably damaging 0.99
IGL01778:Gldn APN 9 54,241,776 (GRCm39) splice site probably null
IGL02425:Gldn APN 9 54,246,005 (GRCm39) missense probably damaging 1.00
R2284:Gldn UTSW 9 54,193,849 (GRCm39) nonsense probably null
R2902:Gldn UTSW 9 54,243,098 (GRCm39) missense possibly damaging 0.84
R3055:Gldn UTSW 9 54,245,807 (GRCm39) missense probably damaging 0.96
R3683:Gldn UTSW 9 54,245,624 (GRCm39) missense possibly damaging 0.58
R3684:Gldn UTSW 9 54,245,624 (GRCm39) missense possibly damaging 0.58
R3732:Gldn UTSW 9 54,245,946 (GRCm39) missense possibly damaging 0.76
R3732:Gldn UTSW 9 54,245,946 (GRCm39) missense possibly damaging 0.76
R3733:Gldn UTSW 9 54,245,946 (GRCm39) missense possibly damaging 0.76
R3734:Gldn UTSW 9 54,245,946 (GRCm39) missense possibly damaging 0.76
R4668:Gldn UTSW 9 54,239,302 (GRCm39) nonsense probably null
R5574:Gldn UTSW 9 54,220,206 (GRCm39) missense probably damaging 1.00
R5773:Gldn UTSW 9 54,241,775 (GRCm39) critical splice donor site probably null
R5926:Gldn UTSW 9 54,245,722 (GRCm39) missense possibly damaging 0.68
R5943:Gldn UTSW 9 54,245,721 (GRCm39) missense possibly damaging 0.81
R6331:Gldn UTSW 9 54,194,162 (GRCm39) missense probably benign 0.32
R6671:Gldn UTSW 9 54,245,691 (GRCm39) missense probably damaging 1.00
R6821:Gldn UTSW 9 54,246,054 (GRCm39) missense probably benign 0.01
R6897:Gldn UTSW 9 54,242,158 (GRCm39) splice site probably null
R7579:Gldn UTSW 9 54,245,648 (GRCm39) missense probably benign 0.21
R7604:Gldn UTSW 9 54,245,877 (GRCm39) missense probably benign
R7705:Gldn UTSW 9 54,245,976 (GRCm39) missense probably benign 0.00
R9036:Gldn UTSW 9 54,245,747 (GRCm39) missense probably benign 0.00
R9672:Gldn UTSW 9 54,245,780 (GRCm39) missense probably damaging 0.97
Z1177:Gldn UTSW 9 54,193,944 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- TACCTTGGTGGGAAGAGCTG -3'
(R):5'- GTGCCTTTTAAGATGAGGAGCC -3'

Sequencing Primer
(F):5'- TGAGAAAGCAAATGAACGCCATTC -3'
(R):5'- GGAGCCTTATACTAACACTAGTGG -3'
Posted On 2016-07-22