Incidental Mutation 'R3437:Homer1'
ID475677
Institutional Source Beutler Lab
Gene Symbol Homer1
Ensembl Gene ENSMUSG00000007617
Gene Namehomer scaffolding protein 1
SynonymsPSD-Zip45, Ves-1
MMRRC Submission 040655-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.660) question?
Stock #R3437 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location93299635-93405129 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 93366421 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060490] [ENSMUST00000079086] [ENSMUST00000080127] [ENSMUST00000109492] [ENSMUST00000109493] [ENSMUST00000109494] [ENSMUST00000109495] [ENSMUST00000109496] [ENSMUST00000109497] [ENSMUST00000109498]
Predicted Effect probably benign
Transcript: ENSMUST00000060490
SMART Domains Protein: ENSMUSP00000050471
Gene: ENSMUSG00000007617

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
low complexity region 255 268 N/A INTRINSIC
PDB:3CVE|D 290 354 2e-34 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000079086
SMART Domains Protein: ENSMUSP00000078093
Gene: ENSMUSG00000007617

DomainStartEndE-ValueType
WH1 17 123 2.73e-44 SMART
low complexity region 271 284 N/A INTRINSIC
PDB:3CVE|D 306 370 3e-34 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000080127
SMART Domains Protein: ENSMUSP00000079026
Gene: ENSMUSG00000007617

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
low complexity region 267 280 N/A INTRINSIC
PDB:3CVE|D 302 366 2e-34 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000109492
SMART Domains Protein: ENSMUSP00000105118
Gene: ENSMUSG00000007617

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
low complexity region 191 201 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000109493
AA Change: V224A
SMART Domains Protein: ENSMUSP00000105119
Gene: ENSMUSG00000007617
AA Change: V224A

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109494
SMART Domains Protein: ENSMUSP00000105120
Gene: ENSMUSG00000007617

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109495
SMART Domains Protein: ENSMUSP00000105121
Gene: ENSMUSG00000007617

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109496
SMART Domains Protein: ENSMUSP00000105122
Gene: ENSMUSG00000007617

DomainStartEndE-ValueType
WH1 1 107 1.01e-38 SMART
low complexity region 125 138 N/A INTRINSIC
PDB:3CVE|D 160 224 2e-35 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000109497
SMART Domains Protein: ENSMUSP00000105123
Gene: ENSMUSG00000007617

DomainStartEndE-ValueType
low complexity region 81 94 N/A INTRINSIC
PDB:3CVE|D 116 180 9e-36 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000109498
SMART Domains Protein: ENSMUSP00000105124
Gene: ENSMUSG00000007617

DomainStartEndE-ValueType
low complexity region 93 106 N/A INTRINSIC
PDB:3CVE|D 128 192 9e-36 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (42/42)
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit an increase in spontaneous calcium influx in pancreatic acinar cells. Mice homozygous for a knock-out allele exhibit decreased response to formalin-induced pain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,639,294 probably null Het
Ambp T C 4: 63,149,484 E163G probably benign Het
Amy1 G A 3: 113,556,009 A504V probably damaging Het
Angptl3 A T 4: 99,033,303 K219N probably benign Het
Atp6v1g1 A G 4: 63,550,018 N86S probably benign Het
Avl9 T C 6: 56,736,627 V290A probably benign Het
Bad A G 19: 6,942,431 R37G probably benign Het
Bicra T C 7: 15,989,298 D98G possibly damaging Het
Col4a4 G A 1: 82,497,168 T650M unknown Het
Cyp11b2 T C 15: 74,855,449 R128G probably benign Het
Dst T C 1: 34,190,222 S1974P probably damaging Het
Fabp1 T C 6: 71,201,611 L24P probably benign Het
Flnb T C 14: 7,942,057 V2345A probably damaging Het
Gmnc G T 16: 26,960,467 H221Q probably benign Het
Kit A G 5: 75,645,905 D690G probably damaging Het
Lama2 C T 10: 27,001,235 E2652K probably benign Het
Mc3r C T 2: 172,249,668 T270I probably benign Het
Mrgpra3 A C 7: 47,589,566 L204W probably damaging Het
Mroh1 C T 15: 76,433,608 T839I possibly damaging Het
Naip2 T A 13: 100,154,911 H1173L probably benign Het
Olfr136 A G 17: 38,335,432 I92V probably damaging Het
Olfr312 A T 11: 58,831,324 M57L probably damaging Het
Optc T C 1: 133,897,879 D303G probably damaging Het
P4ha3 C T 7: 100,285,624 A31V possibly damaging Het
Plch2 A G 4: 154,991,013 probably null Het
Plpp2 A T 10: 79,527,813 probably null Het
Polq A T 16: 37,062,337 N1342I probably damaging Het
Pter T A 2: 13,000,994 L326H probably benign Het
Pwwp2a C T 11: 43,706,188 Q452* probably null Het
Slc8a2 T G 7: 16,158,885 V824G probably damaging Het
Slfn2 A T 11: 83,069,564 H123L probably benign Het
Tmem132e A G 11: 82,444,330 Y654C probably damaging Het
Trim14 C T 4: 46,523,739 V100I possibly damaging Het
Tro G A X: 150,646,256 probably benign Het
Uspl1 T A 5: 149,214,697 probably benign Het
Uty A G Y: 1,158,336 I522T probably benign Het
Vmn1r120 A C 7: 21,053,657 L43W probably damaging Het
Vmn2r16 A T 5: 109,330,496 D39V probably damaging Het
Washc4 T A 10: 83,570,002 I454N probably benign Het
Wdr66 A G 5: 123,254,372 probably benign Het
Wnt16 T C 6: 22,298,134 V333A probably damaging Het
Ylpm1 T C 12: 85,049,870 probably null Het
Zfy1 A T Y: 726,357 D469E possibly damaging Het
Other mutations in Homer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Homer1 APN 13 93387688 splice site probably benign
IGL00427:Homer1 APN 13 93402114 missense probably benign 0.05
IGL00479:Homer1 APN 13 93346648 missense probably damaging 1.00
R0153:Homer1 UTSW 13 93391746 missense possibly damaging 0.92
R3025:Homer1 UTSW 13 93402074 nonsense probably null
R4418:Homer1 UTSW 13 93402069 missense probably damaging 1.00
R4666:Homer1 UTSW 13 93402159 missense probably damaging 0.99
R4718:Homer1 UTSW 13 93391764 missense probably damaging 1.00
R5413:Homer1 UTSW 13 93391779 missense probably benign 0.01
R5665:Homer1 UTSW 13 93356102 missense probably benign 0.03
R5798:Homer1 UTSW 13 93402095 missense probably damaging 1.00
R6092:Homer1 UTSW 13 93366437 intron probably benign
R6486:Homer1 UTSW 13 93391725 missense possibly damaging 0.73
R6617:Homer1 UTSW 13 93341862 missense probably damaging 1.00
Predicted Primers
Posted On2017-05-11