Incidental Mutation 'R5665:Homer1'
ID 444372
Institutional Source Beutler Lab
Gene Symbol Homer1
Ensembl Gene ENSMUSG00000007617
Gene Name homer scaffolding protein 1
Synonyms PSD-Zip45, Ves-1
MMRRC Submission 043308-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.810) question?
Stock # R5665 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 93436143-93541637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93492610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 184 (M184L)
Ref Sequence ENSEMBL: ENSMUSP00000099813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060490] [ENSMUST00000079086] [ENSMUST00000080127] [ENSMUST00000102752] [ENSMUST00000109492] [ENSMUST00000109493] [ENSMUST00000109495] [ENSMUST00000109498] [ENSMUST00000109494] [ENSMUST00000109497] [ENSMUST00000109496]
AlphaFold Q9Z2Y3
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: ENSMUST00000102752
AA Change: M184L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099813
Gene: ENSMUSG00000007617
AA Change: M184L

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
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 probably benign
Transcript: ENSMUST00000109493
SMART Domains Protein: ENSMUSP00000105119
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: 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
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: 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: 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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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. [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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Acaca G T 11: 84,136,120 (GRCm39) E492* probably null Het
Acp7 T A 7: 28,315,968 (GRCm39) K206M probably benign Het
Agbl1 T A 7: 76,239,251 (GRCm39) F584I probably damaging Het
Ahi1 A G 10: 20,930,946 (GRCm39) I929V possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arhgef40 A G 14: 52,238,357 (GRCm39) I1279V possibly damaging Het
Arl14 A C 3: 69,130,371 (GRCm39) T173P probably damaging Het
Asap1 A G 15: 64,184,302 (GRCm39) S44P probably damaging Het
Btbd7 C A 12: 102,751,456 (GRCm39) A1103S probably benign Het
Capn10 T A 1: 92,865,653 (GRCm39) probably null Het
Capn7 T C 14: 31,091,759 (GRCm39) F719L probably benign Het
Casp7 G A 19: 56,429,414 (GRCm39) D267N probably benign Het
Ccdc13 C A 9: 121,643,356 (GRCm39) K348N probably damaging Het
Chchd1 T C 14: 20,753,178 (GRCm39) F13L probably benign Het
Clcn6 T A 4: 148,099,018 (GRCm39) M442L possibly damaging Het
Col6a3 T C 1: 90,755,602 (GRCm39) E229G probably benign Het
Cyb5r3 A G 15: 83,038,755 (GRCm39) F278S probably damaging Het
Dhx16 C T 17: 36,201,978 (GRCm39) Q1002* probably null Het
Dppa4 T C 16: 48,111,378 (GRCm39) L121P probably benign Het
Dpyd A G 3: 118,710,741 (GRCm39) E383G probably damaging Het
Eif4g3 A G 4: 137,853,900 (GRCm39) T489A probably benign Het
Elovl1 G T 4: 118,288,832 (GRCm39) V174L probably damaging Het
Elp3 T C 14: 65,788,851 (GRCm39) K392E possibly damaging Het
Fancd2os C A 6: 113,574,985 (GRCm39) W7L probably damaging Het
Fchsd2 A G 7: 100,759,991 (GRCm39) T23A possibly damaging Het
Gabrp C G 11: 33,504,308 (GRCm39) A336P possibly damaging Het
Gcm2 T A 13: 41,263,387 (GRCm39) Y15F possibly damaging Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Herc1 A G 9: 66,372,717 (GRCm39) E3091G probably damaging Het
Izumo1r T C 9: 14,812,145 (GRCm39) E117G probably damaging Het
Kcnt1 C T 2: 25,791,921 (GRCm39) Q590* probably null Het
Lama1 G T 17: 68,077,982 (GRCm39) C1139F probably damaging Het
Med29 C T 7: 28,086,239 (GRCm39) A190T probably benign Het
Muc4 T C 16: 32,569,600 (GRCm39) V220A probably benign Het
Mxra8 G T 4: 155,927,378 (GRCm39) V388L probably benign Het
Myo5a T C 9: 75,051,463 (GRCm39) probably null Het
Myrip A G 9: 120,290,499 (GRCm39) Y706C probably damaging Het
Nphp4 T C 4: 152,590,942 (GRCm39) V313A probably benign Het
Oga A C 19: 45,765,436 (GRCm39) S124A probably benign Het
Olfm2 T G 9: 20,579,840 (GRCm39) probably null Het
Or10ag52 T A 2: 87,044,072 (GRCm39) S279T probably benign Het
Or10x4 T C 1: 174,218,941 (GRCm39) F102S probably damaging Het
Pcdh15 C T 10: 74,462,620 (GRCm39) P1398L probably damaging Het
Pdpr A G 8: 111,841,443 (GRCm39) E225G possibly damaging Het
Pigs C A 11: 78,219,595 (GRCm39) probably null Het
Pkhd1 T A 1: 20,658,755 (GRCm39) T159S probably damaging Het
Plk4 A G 3: 40,768,021 (GRCm39) T87A possibly damaging Het
Plxna4 T C 6: 32,192,657 (GRCm39) Y768C probably damaging Het
Prl3d3 T A 13: 27,343,064 (GRCm39) probably null Het
Pygb T C 2: 150,662,808 (GRCm39) probably null Het
Rnf114 T C 2: 167,352,854 (GRCm39) I118T possibly damaging Het
Sbno2 A G 10: 79,894,287 (GRCm39) L1099P probably benign Het
Scaper T C 9: 55,714,916 (GRCm39) K791E probably damaging Het
Serping1 T C 2: 84,601,889 (GRCm39) T194A probably damaging Het
Slc12a9 A G 5: 137,319,665 (GRCm39) S617P possibly damaging Het
Slk G A 19: 47,624,896 (GRCm39) R1039H probably damaging Het
Sntb1 T A 15: 55,655,535 (GRCm39) E227V probably benign Het
Sostdc1 C A 12: 36,364,407 (GRCm39) P39T probably benign Het
Spred1 C T 2: 116,983,486 (GRCm39) R16* probably null Het
Srpk2 A G 5: 23,723,475 (GRCm39) I547T probably damaging Het
Stt3a A G 9: 36,670,610 (GRCm39) Y54H probably damaging Het
Stt3b A T 9: 115,095,215 (GRCm39) L272H probably damaging Het
Syne2 T A 12: 76,154,991 (GRCm39) probably null Het
Uso1 A T 5: 92,346,196 (GRCm39) E793V possibly damaging Het
Usp15 A T 10: 122,966,892 (GRCm39) L476* probably null Het
Vmn1r189 T C 13: 22,286,336 (GRCm39) Y167C probably damaging Het
Vmn2r24 A G 6: 123,763,938 (GRCm39) T272A possibly damaging Het
Vps13a A T 19: 16,646,054 (GRCm39) H1994Q probably damaging Het
Zbtb10 T C 3: 9,330,252 (GRCm39) S537P probably damaging Het
Zbtb12 T C 17: 35,114,859 (GRCm39) S215P possibly damaging Het
Zfp346 T C 13: 55,260,915 (GRCm39) M81T probably benign Het
Zfp800 T C 6: 28,244,512 (GRCm39) D151G probably null Het
Other mutations in Homer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Homer1 APN 13 93,524,196 (GRCm39) splice site probably benign
IGL00427:Homer1 APN 13 93,538,622 (GRCm39) missense probably benign 0.05
IGL00479:Homer1 APN 13 93,483,156 (GRCm39) missense probably damaging 1.00
PIT4151001:Homer1 UTSW 13 93,485,724 (GRCm39) missense probably damaging 1.00
R0153:Homer1 UTSW 13 93,528,254 (GRCm39) missense possibly damaging 0.92
R3025:Homer1 UTSW 13 93,538,582 (GRCm39) nonsense probably null
R3437:Homer1 UTSW 13 93,502,929 (GRCm39) intron probably benign
R4418:Homer1 UTSW 13 93,538,577 (GRCm39) missense probably damaging 1.00
R4666:Homer1 UTSW 13 93,538,667 (GRCm39) missense probably damaging 0.99
R4718:Homer1 UTSW 13 93,528,272 (GRCm39) missense probably damaging 1.00
R5413:Homer1 UTSW 13 93,528,287 (GRCm39) missense probably benign 0.01
R5798:Homer1 UTSW 13 93,538,603 (GRCm39) missense probably damaging 1.00
R6092:Homer1 UTSW 13 93,502,945 (GRCm39) intron probably benign
R6486:Homer1 UTSW 13 93,528,233 (GRCm39) missense possibly damaging 0.73
R6617:Homer1 UTSW 13 93,478,370 (GRCm39) missense probably damaging 1.00
R7101:Homer1 UTSW 13 93,492,562 (GRCm39) missense probably benign 0.00
R7384:Homer1 UTSW 13 93,529,547 (GRCm39) missense possibly damaging 0.90
R8362:Homer1 UTSW 13 93,502,797 (GRCm39) missense unknown
R8772:Homer1 UTSW 13 93,528,239 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTACTTGAACAAAAGTGTAACAC -3'
(R):5'- GCCTGTGGTAAAGCTTTCCTTC -3'

Sequencing Primer
(F):5'- AAACACTCTCTTACTCTTTCTTTTCC -3'
(R):5'- TGGTAAAGCTTTCCTTCAGAGTAG -3'
Posted On 2016-11-09