Incidental Mutation 'R2922:Dlgap5'
ID 255591
Institutional Source Beutler Lab
Gene Symbol Dlgap5
Ensembl Gene ENSMUSG00000037544
Gene Name DLG associated protein 5
Synonyms Dlg7, C86398, Hurp
MMRRC Submission 040507-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.820) question?
Stock # R2922 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 47387779-47418407 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 47390441 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000043296] [ENSMUST00000142734] [ENSMUST00000146468] [ENSMUST00000150290] [ENSMUST00000178661] [ENSMUST00000180299]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000043296
SMART Domains Protein: ENSMUSP00000040416
Gene: ENSMUSG00000037544

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: ENSMUST00000142734
SMART Domains Protein: ENSMUSP00000118169
Gene: ENSMUSG00000050335

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
GLECT 130 262 8.36e-57 SMART
Gal-bind_lectin 136 261 1.02e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146468
SMART Domains Protein: ENSMUSP00000119275
Gene: ENSMUSG00000050335

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
GLECT 130 262 8.36e-57 SMART
Gal-bind_lectin 136 261 1.02e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150290
SMART Domains Protein: ENSMUSP00000114350
Gene: ENSMUSG00000050335

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
GLECT 130 262 8.36e-57 SMART
Gal-bind_lectin 136 261 1.02e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000177822
Predicted Effect probably benign
Transcript: ENSMUST00000178661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179465
Predicted Effect silent
Transcript: ENSMUST00000180299
Meta Mutation Damage Score 0.9583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,861,534 D90G possibly damaging Het
Atp6v0a2 C T 5: 124,717,917 T656M possibly damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 128,125,077 probably null Het
Bsn C T 9: 108,108,186 V2890M unknown Het
Bsn T C 9: 108,115,469 E1028G probably damaging Het
Ccdc116 T C 16: 17,142,443 H170R probably benign Het
Cdk11b CAGAAGAAG CAGAAG 4: 155,640,744 probably benign Het
Clpb A G 7: 101,722,828 D257G probably benign Het
Crygs C T 16: 22,805,551 G102D possibly damaging Het
Dmwd T C 7: 19,076,345 F26L probably damaging Het
Eif5b T C 1: 38,018,019 probably benign Het
Flii A G 11: 60,718,916 Y622H probably damaging Het
Gbp7 A T 3: 142,534,572 E17V probably benign Het
Ghrh T C 2: 157,331,877 probably null Het
Gm20939 T A 17: 94,877,293 H456Q probably damaging Het
Golga4 T A 9: 118,559,343 S1844R possibly damaging Het
Hgd T C 16: 37,618,968 F213L probably damaging Het
Hoxb1 T C 11: 96,366,293 L156P probably benign Het
Itga11 A G 9: 62,768,630 probably benign Het
Kcnn3 T C 3: 89,521,022 V185A probably damaging Het
Lrriq1 T C 10: 103,214,675 T739A probably benign Het
Mib1 C T 18: 10,760,831 Q374* probably null Het
Myh9 A G 15: 77,813,184 L10P probably damaging Het
Ncor2 A G 5: 125,055,791 F44S probably damaging Het
Nr3c1 C A 18: 39,487,103 A44S possibly damaging Het
Olfr148 G A 9: 39,613,764 V66I probably benign Het
Olfr644 A G 7: 104,068,587 V148A probably benign Het
Ovch2 A G 7: 107,790,389 L317P possibly damaging Het
Pcolce2 T A 9: 95,694,714 L346Q probably damaging Het
Rdm1 T A 11: 101,630,890 L157H possibly damaging Het
Rptn A G 3: 93,398,708 Y1116C possibly damaging Het
Scn7a A G 2: 66,700,207 probably benign Het
Slc24a2 A G 4: 86,991,354 V660A possibly damaging Het
Tet3 A G 6: 83,368,512 S1648P probably damaging Het
Tmem198b G A 10: 128,802,193 T167I probably damaging Het
Tmem2 A G 19: 21,817,939 D732G possibly damaging Het
Tmx1 T A 12: 70,466,121 C268S probably benign Het
Ubr4 A G 4: 139,479,500 N4886S possibly damaging Het
Usp47 A G 7: 112,093,198 S956G probably damaging Het
Vmn2r60 T A 7: 42,141,035 V482E probably damaging Het
Zfhx4 C T 3: 5,403,664 P2986S probably damaging Het
Zfp507 T C 7: 35,794,799 E273G probably damaging Het
Other mutations in Dlgap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Dlgap5 APN 14 47398468 missense probably damaging 1.00
IGL01110:Dlgap5 APN 14 47394326 splice site probably benign
IGL02943:Dlgap5 APN 14 47412976 critical splice donor site probably null
PIT4453001:Dlgap5 UTSW 14 47401522 frame shift probably null
R0189:Dlgap5 UTSW 14 47412975 splice site probably null
R0383:Dlgap5 UTSW 14 47410361 missense probably benign 0.01
R1078:Dlgap5 UTSW 14 47399566 missense probably damaging 1.00
R1915:Dlgap5 UTSW 14 47407773 missense probably benign 0.00
R1959:Dlgap5 UTSW 14 47416386 missense possibly damaging 0.88
R2051:Dlgap5 UTSW 14 47411484 missense probably benign 0.01
R2145:Dlgap5 UTSW 14 47395923 nonsense probably null
R4261:Dlgap5 UTSW 14 47413788 missense probably damaging 1.00
R4607:Dlgap5 UTSW 14 47413018 missense possibly damaging 0.87
R4724:Dlgap5 UTSW 14 47401520 critical splice donor site probably null
R4898:Dlgap5 UTSW 14 47413819 missense probably benign 0.01
R5135:Dlgap5 UTSW 14 47399665 missense probably damaging 1.00
R5154:Dlgap5 UTSW 14 47413720 missense probably damaging 1.00
R5650:Dlgap5 UTSW 14 47411739 missense probably benign 0.01
R5849:Dlgap5 UTSW 14 47389435 missense possibly damaging 0.95
R5958:Dlgap5 UTSW 14 47413754 missense probably damaging 1.00
R6845:Dlgap5 UTSW 14 47416563 missense possibly damaging 0.79
R7163:Dlgap5 UTSW 14 47399638 missense probably damaging 1.00
R7529:Dlgap5 UTSW 14 47416419 missense probably damaging 1.00
R7646:Dlgap5 UTSW 14 47399519 critical splice donor site probably null
R8029:Dlgap5 UTSW 14 47416440 missense probably benign 0.01
R8084:Dlgap5 UTSW 14 47407841 missense probably benign 0.00
R9126:Dlgap5 UTSW 14 47401532 missense probably damaging 1.00
R9166:Dlgap5 UTSW 14 47413749 missense probably damaging 1.00
Z1177:Dlgap5 UTSW 14 47388063 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCATTGCTCTCTGAAGCATC -3'
(R):5'- AAACGAATTTGCCTCTTCCTG -3'

Sequencing Primer
(F):5'- AACAAGGTCTCGCTGCATTG -3'
(R):5'- CTGCTGGTGATGCTAATACCAATC -3'
Posted On 2014-12-29