Incidental Mutation 'R4607:Dlgap5'
ID 346096
Institutional Source Beutler Lab
Gene Symbol Dlgap5
Ensembl Gene ENSMUSG00000037544
Gene Name DLG associated protein 5
Synonyms Dlg7, C86398, Hurp
MMRRC Submission 041818-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R4607 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 47625236-47655864 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47650475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 151 (I151T)
Ref Sequence ENSEMBL: ENSMUSP00000154283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043296] [ENSMUST00000178661] [ENSMUST00000180299]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000043296
AA Change: I151T

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040416
Gene: ENSMUSG00000037544
AA Change: I151T

DomainStartEndE-ValueType
coiled coil region 86 116 N/A INTRINSIC
Pfam:GKAP 327 590 2.2e-38 PFAM
low complexity region 735 757 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111778
SMART Domains Protein: ENSMUSP00000107408
Gene: ENSMUSG00000037544

DomainStartEndE-ValueType
Pfam:GKAP 78 303 3.9e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178661
AA Change: I151T

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179392
Predicted Effect possibly damaging
Transcript: ENSMUST00000180299
AA Change: I151T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1602 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (65/67)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display female infertility resulting from a defect in decidualization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T A 10: 106,802,890 (GRCm39) I452F possibly damaging Het
Adgra3 A C 5: 50,128,081 (GRCm39) V800G probably damaging Het
Aldh1a1 A T 19: 20,599,051 (GRCm39) Y154F probably benign Het
Bbs10 T G 10: 111,136,681 (GRCm39) I598S probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Ccnl1 C T 3: 65,854,131 (GRCm39) probably benign Het
Chrna9 A G 5: 66,134,078 (GRCm39) I310V possibly damaging Het
Cpeb3 A G 19: 37,152,239 (GRCm39) S46P possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dsg4 C T 18: 20,604,302 (GRCm39) T923M probably damaging Het
Eif4g3 G T 4: 137,853,769 (GRCm39) R618L probably benign Het
Erlin1 C T 19: 44,051,474 (GRCm39) V76M probably damaging Het
Fam161a G A 11: 22,970,710 (GRCm39) S296N probably benign Het
Fam187b T A 7: 30,677,170 (GRCm39) N226K probably benign Het
Fes G A 7: 80,036,959 (GRCm39) R42W probably damaging Het
Fmnl2 T A 2: 52,993,728 (GRCm39) N374K possibly damaging Het
Fpgt G A 3: 154,792,333 (GRCm39) Q565* probably null Het
Gm26657 C A 4: 56,741,114 (GRCm39) H100N probably benign Het
Gna14 A G 19: 16,511,075 (GRCm39) probably null Het
Gsg1l T A 7: 125,557,721 (GRCm39) I136F probably damaging Het
Hhip C T 8: 80,724,192 (GRCm39) R350Q probably damaging Het
Ints10 G A 8: 69,263,271 (GRCm39) R394Q probably damaging Het
Ipo11 A G 13: 107,037,319 (GRCm39) S175P probably damaging Het
Klk13 C A 7: 43,363,284 (GRCm39) C10* probably null Het
Leng8 T A 7: 4,147,796 (GRCm39) I607N probably damaging Het
Map3k2 T C 18: 32,333,030 (GRCm39) L68P probably damaging Het
Memo1 G A 17: 74,565,456 (GRCm39) Q36* probably null Het
Mink1 A G 11: 70,496,893 (GRCm39) E417G possibly damaging Het
Myrf G T 19: 10,206,431 (GRCm39) D29E probably damaging Het
Nelfcd T A 2: 174,264,955 (GRCm39) D215E probably benign Het
Nostrin G A 2: 69,014,243 (GRCm39) V400M possibly damaging Het
Nrip1 T C 16: 76,089,920 (GRCm39) T546A probably benign Het
Or13a24 A G 7: 140,154,554 (GRCm39) M163V probably benign Het
Or1l4 T A 2: 37,092,094 (GRCm39) Y280* probably null Het
Or2h2b-ps1 A T 17: 37,481,173 (GRCm39) V20E probably damaging Het
Or4c114 G T 2: 88,904,656 (GRCm39) P260T probably benign Het
Or6aa1 A T 7: 86,043,718 (GRCm39) probably null Het
Or8g32 T C 9: 39,306,031 (GRCm39) *312Q probably null Het
P2ry6 A G 7: 100,587,511 (GRCm39) Y283H probably damaging Het
Pcdh9 T A 14: 93,253,009 (GRCm39) N1218I probably benign Het
Pcdhga6 A G 18: 37,841,671 (GRCm39) N464D probably damaging Het
Pramel52-ps G T 5: 94,531,387 (GRCm39) R90S probably benign Het
Rdx T A 9: 51,980,137 (GRCm39) S243R probably damaging Het
Rxfp1 T C 3: 79,594,196 (GRCm39) N66S probably damaging Het
Slit1 C A 19: 41,605,232 (GRCm39) R873L probably benign Het
Spata31e3 G A 13: 50,399,542 (GRCm39) T928I possibly damaging Het
Strc T A 2: 121,203,426 (GRCm39) I1130F probably benign Het
Tlk2 T A 11: 105,145,844 (GRCm39) L350Q probably damaging Het
Tmem74 G T 15: 43,730,554 (GRCm39) T163K probably damaging Het
Trav15-1-dv6-1 T A 14: 53,797,511 (GRCm39) H53Q probably benign Het
Trbv24 T C 6: 41,195,335 (GRCm39) probably benign Het
Uba2 T C 7: 33,854,021 (GRCm39) D307G probably damaging Het
Uty C T Y: 1,131,134 (GRCm39) R924Q probably damaging Het
Wdr7 C T 18: 63,910,651 (GRCm39) T681I probably benign Het
Zbtb42 C T 12: 112,646,976 (GRCm39) R384W probably damaging Het
Zfand4 T A 6: 116,305,195 (GRCm39) C207* probably null Het
Zfp512b C A 2: 181,230,567 (GRCm39) R441L probably damaging Het
Other mutations in Dlgap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Dlgap5 APN 14 47,635,925 (GRCm39) missense probably damaging 1.00
IGL01110:Dlgap5 APN 14 47,631,783 (GRCm39) splice site probably benign
IGL02943:Dlgap5 APN 14 47,650,433 (GRCm39) critical splice donor site probably null
PIT4453001:Dlgap5 UTSW 14 47,638,979 (GRCm39) frame shift probably null
R0189:Dlgap5 UTSW 14 47,650,432 (GRCm39) splice site probably null
R0383:Dlgap5 UTSW 14 47,647,818 (GRCm39) missense probably benign 0.01
R1078:Dlgap5 UTSW 14 47,637,023 (GRCm39) missense probably damaging 1.00
R1915:Dlgap5 UTSW 14 47,645,230 (GRCm39) missense probably benign 0.00
R1959:Dlgap5 UTSW 14 47,653,843 (GRCm39) missense possibly damaging 0.88
R2051:Dlgap5 UTSW 14 47,648,941 (GRCm39) missense probably benign 0.01
R2145:Dlgap5 UTSW 14 47,633,380 (GRCm39) nonsense probably null
R2922:Dlgap5 UTSW 14 47,627,898 (GRCm39) critical splice donor site probably null
R4261:Dlgap5 UTSW 14 47,651,245 (GRCm39) missense probably damaging 1.00
R4724:Dlgap5 UTSW 14 47,638,977 (GRCm39) critical splice donor site probably null
R4898:Dlgap5 UTSW 14 47,651,276 (GRCm39) missense probably benign 0.01
R5135:Dlgap5 UTSW 14 47,637,122 (GRCm39) missense probably damaging 1.00
R5154:Dlgap5 UTSW 14 47,651,177 (GRCm39) missense probably damaging 1.00
R5650:Dlgap5 UTSW 14 47,649,196 (GRCm39) missense probably benign 0.01
R5849:Dlgap5 UTSW 14 47,626,892 (GRCm39) missense possibly damaging 0.95
R5958:Dlgap5 UTSW 14 47,651,211 (GRCm39) missense probably damaging 1.00
R6845:Dlgap5 UTSW 14 47,654,020 (GRCm39) missense possibly damaging 0.79
R7163:Dlgap5 UTSW 14 47,637,095 (GRCm39) missense probably damaging 1.00
R7529:Dlgap5 UTSW 14 47,653,876 (GRCm39) missense probably damaging 1.00
R7646:Dlgap5 UTSW 14 47,636,976 (GRCm39) critical splice donor site probably null
R8029:Dlgap5 UTSW 14 47,653,897 (GRCm39) missense probably benign 0.01
R8084:Dlgap5 UTSW 14 47,645,298 (GRCm39) missense probably benign 0.00
R9126:Dlgap5 UTSW 14 47,638,989 (GRCm39) missense probably damaging 1.00
R9166:Dlgap5 UTSW 14 47,651,206 (GRCm39) missense probably damaging 1.00
Z1177:Dlgap5 UTSW 14 47,625,520 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCTTCATACCTTCAAGTCCGAT -3'
(R):5'- ACAAACAATTCTTTTAACTCTGGAAC -3'

Sequencing Primer
(F):5'- CCGATAAATACATCACTATGCTTGC -3'
(R):5'- CTTGACACAGCTGGAGTTATCACAG -3'
Posted On 2015-09-25