Incidental Mutation 'R6033:Homer2'
ID480506
Institutional Source Beutler Lab
Gene Symbol Homer2
Ensembl Gene ENSMUSG00000025813
Gene Namehomer scaffolding protein 2
Synonyms9330120H11Rik, Cupidin, Vesl-2, CPD
MMRRC Submission 044205-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #R6033 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location81600481-81707527 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 81618679 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 78 (S78A)
Ref Sequence ENSEMBL: ENSMUSP00000146521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026922] [ENSMUST00000098326] [ENSMUST00000207371] [ENSMUST00000207983] [ENSMUST00000208937]
Predicted Effect probably benign
Transcript: ENSMUST00000026922
AA Change: S131A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026922
Gene: ENSMUSG00000025813
AA Change: S131A

DomainStartEndE-ValueType
WH1 1 107 1.86e-37 SMART
coiled coil region 162 320 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000098326
AA Change: S78A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095931
Gene: ENSMUSG00000025813
AA Change: S78A

DomainStartEndE-ValueType
Pfam:WH1 1 43 4.6e-11 PFAM
coiled coil region 98 256 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207289
Predicted Effect possibly damaging
Transcript: ENSMUST00000207371
AA Change: S67A

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207526
Predicted Effect possibly damaging
Transcript: ENSMUST00000207983
AA Change: S142A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207991
Predicted Effect possibly damaging
Transcript: ENSMUST00000208937
AA Change: S78A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.9%
  • 20x: 89.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutants exhibit an increase in intracellular calcium concentration and in the frequency of intracellular calcium oscillations in pancreatic acinar cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700125H20Rik A G 11: 85,178,372 E72G probably damaging Het
Adgrl1 T A 8: 83,918,922 V58E probably damaging Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Alas1 A G 9: 106,241,204 S240P probably damaging Het
Alox12e C T 11: 70,316,013 G616D probably benign Het
Arhgap8 A G 15: 84,741,925 E67G probably damaging Het
Ash1l T C 3: 88,985,019 Y1402H probably damaging Het
Ccdc150 G T 1: 54,285,628 probably null Het
Cmtm8 T C 9: 114,796,073 T97A probably damaging Het
Cnmd T C 14: 79,661,505 S36G probably benign Het
Dnah3 A C 7: 120,071,647 N609K probably benign Het
Dph1 C T 11: 75,191,197 probably benign Het
Drosha G A 15: 12,925,999 A1225T probably benign Het
Eid3 T A 10: 82,867,653 I316K probably damaging Het
Erich6 A G 3: 58,623,201 L449S probably benign Het
Fhod1 T C 8: 105,336,434 probably benign Het
Glra1 A G 11: 55,527,419 Y250H probably damaging Het
Gm6768 A G 12: 119,261,740 noncoding transcript Het
Hivep1 A G 13: 42,157,107 E941G probably benign Het
Ica1 T A 6: 8,630,799 probably null Het
Ifna12 T C 4: 88,602,917 E131G possibly damaging Het
Igbp1b T C 6: 138,658,209 Y79C probably damaging Het
Incenp C T 19: 9,872,697 V871I probably damaging Het
Jaml G A 9: 45,088,710 G60D probably damaging Het
Kcp C T 6: 29,493,194 C110Y probably damaging Het
Manba T C 3: 135,549,261 V460A probably benign Het
Myrfl A T 10: 116,849,101 C125S probably benign Het
Ncan T C 8: 70,112,590 D229G probably damaging Het
Nlrp10 A T 7: 108,924,577 D565E probably benign Het
Npas2 T C 1: 39,338,180 V541A probably damaging Het
Nsg2 G A 11: 32,055,058 V87M possibly damaging Het
Olfr1040 A T 2: 86,146,269 V155E probably damaging Het
Prkd2 C T 7: 16,865,714 R701C probably damaging Het
Prss36 T C 7: 127,934,567 R22G probably benign Het
Psmd1 T C 1: 86,137,095 Y950H probably damaging Het
Slc45a4 G A 15: 73,581,976 A716V probably damaging Het
Slc46a1 T C 11: 78,466,007 probably null Het
Slc6a5 T C 7: 49,959,351 I768T probably benign Het
Slco6c1 C T 1: 97,081,316 probably null Het
Taar2 A T 10: 23,940,976 H138L probably benign Het
Taf2 A C 15: 55,058,901 L330R probably damaging Het
Tgm5 T C 2: 121,070,729 probably null Het
Tmed4 A T 11: 6,274,491 Y56* probably null Het
Tmem156 A T 5: 65,075,621 F135L probably benign Het
Ttll6 T C 11: 96,134,887 S65P probably damaging Het
Ttn C T 2: 76,726,827 G28199R probably damaging Het
Ubn2 T A 6: 38,470,224 probably null Het
Unc80 A T 1: 66,473,260 T110S possibly damaging Het
Vmn2r72 A T 7: 85,737,929 V809E probably damaging Het
Zbtb2 A G 10: 4,368,599 F476L probably damaging Het
Zbtb24 T C 10: 41,464,401 F498L probably damaging Het
Zfp280d T A 9: 72,329,137 L494Q probably damaging Het
Zfp281 T C 1: 136,626,726 S481P probably benign Het
Other mutations in Homer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Homer2 APN 7 81618572 splice site probably null
IGL02197:Homer2 APN 7 81610399 missense probably benign 0.01
IGL02865:Homer2 APN 7 81610332 missense probably damaging 1.00
IGL02948:Homer2 APN 7 81649645 missense probably damaging 1.00
IGL03035:Homer2 APN 7 81624278 missense possibly damaging 0.57
R0148:Homer2 UTSW 7 81624278 missense probably benign 0.11
R0480:Homer2 UTSW 7 81618603 missense possibly damaging 0.86
R0544:Homer2 UTSW 7 81649678 missense probably damaging 1.00
R1872:Homer2 UTSW 7 81636402 missense probably damaging 0.99
R1873:Homer2 UTSW 7 81636363 missense probably damaging 1.00
R2060:Homer2 UTSW 7 81618703 missense probably benign 0.00
R2148:Homer2 UTSW 7 81624295 missense possibly damaging 0.50
R4096:Homer2 UTSW 7 81611304 critical splice donor site probably null
R4888:Homer2 UTSW 7 81649563 missense probably benign 0.02
R5121:Homer2 UTSW 7 81649563 missense probably benign 0.02
R6033:Homer2 UTSW 7 81618679 missense possibly damaging 0.92
R6489:Homer2 UTSW 7 81624278 missense probably benign 0.11
R7652:Homer2 UTSW 7 81649666 missense probably damaging 1.00
Predicted Primers
Posted On2017-06-26