Incidental Mutation 'R4418:Homer1'
ID326963
Institutional Source Beutler Lab
Gene Symbol Homer1
Ensembl Gene ENSMUSG00000007617
Gene Namehomer scaffolding protein 1
SynonymsPSD-Zip45, Ves-1
MMRRC Submission 041139-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.768) question?
Stock #R4418 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location93299635-93405129 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93402069 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 314 (E314G)
Ref Sequence ENSEMBL: ENSMUSP00000079026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060490] [ENSMUST00000079086] [ENSMUST00000080127] [ENSMUST00000109495] [ENSMUST00000109496] [ENSMUST00000109497] [ENSMUST00000109498]
Predicted Effect probably damaging
Transcript: ENSMUST00000060490
AA Change: E302G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050471
Gene: ENSMUSG00000007617
AA Change: E302G

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 damaging
Transcript: ENSMUST00000079086
AA Change: E318G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078093
Gene: ENSMUSG00000007617
AA Change: E318G

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 damaging
Transcript: ENSMUST00000080127
AA Change: E314G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079026
Gene: ENSMUSG00000007617
AA Change: E314G

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 unknown
Transcript: ENSMUST00000109495
AA Change: R186G
SMART Domains Protein: ENSMUSP00000105121
Gene: ENSMUSG00000007617
AA Change: R186G

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109496
AA Change: E172G

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105122
Gene: ENSMUSG00000007617
AA Change: E172G

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 damaging
Transcript: ENSMUST00000109497
AA Change: E128G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105123
Gene: ENSMUSG00000007617
AA Change: E128G

DomainStartEndE-ValueType
low complexity region 81 94 N/A INTRINSIC
PDB:3CVE|D 116 180 9e-36 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000109498
AA Change: E140G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105124
Gene: ENSMUSG00000007617
AA Change: E140G

DomainStartEndE-ValueType
low complexity region 93 106 N/A INTRINSIC
PDB:3CVE|D 128 192 9e-36 PDB
Meta Mutation Damage Score 0.262 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 95% (72/76)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T C 18: 38,261,287 probably null Het
4930523C07Rik A G 1: 160,044,802 noncoding transcript Het
5430419D17Rik A T 7: 131,247,465 D899V possibly damaging Het
Acot12 A G 13: 91,784,405 T507A possibly damaging Het
Agap2 T G 10: 127,091,650 C1113W probably damaging Het
Ap3s1-ps2 A T 8: 94,405,293 noncoding transcript Het
B3gnt3 T C 8: 71,693,769 R39G probably benign Het
Bahd1 G A 2: 118,922,523 R757H probably damaging Het
Chad C T 11: 94,567,837 H271Y possibly damaging Het
Chil4 G A 3: 106,203,727 P284S possibly damaging Het
Col6a1 T A 10: 76,718,405 K323* probably null Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Dclre1c T C 2: 3,452,935 F285S possibly damaging Het
Dctn2 T G 10: 127,278,365 M360R probably benign Het
Dgka A T 10: 128,728,094 L462Q probably damaging Het
Drg2 A C 11: 60,468,146 K364T probably damaging Het
Dync1li1 T A 9: 114,706,170 S167R probably damaging Het
Fam189a2 T C 19: 23,979,435 T365A probably benign Het
Fer A T 17: 64,029,291 D554V possibly damaging Het
Fignl2 A G 15: 101,053,949 S151P possibly damaging Het
Gbgt1 A G 2: 28,498,408 Y35C probably damaging Het
Gm6526 T A 14: 43,748,845 I79K probably damaging Het
Gm884 T C 11: 103,618,314 probably benign Het
Gpr6 T G 10: 41,070,608 N326T probably damaging Het
Hcn4 C T 9: 58,843,895 T268M probably benign Het
Hist1h2bc C T 13: 23,684,503 T91M probably damaging Het
Hnf4g A G 3: 3,648,094 M243V possibly damaging Het
Hs6st1 T C 1: 36,104,027 Y348H probably damaging Het
Ifitm6 A T 7: 141,016,071 I103N probably damaging Het
Ipo5 T G 14: 120,943,893 C944G possibly damaging Het
Kcnb1 C A 2: 167,105,675 E418* probably null Het
Kcnk2 G A 1: 189,256,727 R207C probably damaging Het
Kctd8 T C 5: 69,341,162 E47G probably damaging Het
Klhdc2 C T 12: 69,307,597 probably benign Het
Mgat1 A G 11: 49,261,245 Y185C probably damaging Het
Mmp25 T A 17: 23,644,070 R122S probably damaging Het
Mrpl39 C A 16: 84,725,124 probably null Het
Naip6 C T 13: 100,300,600 A472T probably benign Het
Nek1 T C 8: 61,106,864 F1007S probably damaging Het
Neto1 T C 18: 86,404,856 M146T probably benign Het
Opn1sw G A 6: 29,379,424 R45* probably null Het
Osbpl5 A T 7: 143,709,815 C98* probably null Het
Pcdhb7 C T 18: 37,343,482 A557V probably benign Het
Pecam1 A G 11: 106,695,922 F155L possibly damaging Het
Plxna2 C T 1: 194,749,317 S538F probably damaging Het
Pmfbp1 C A 8: 109,530,633 Q609K probably benign Het
Pnpo A T 11: 96,940,969 probably null Het
Ppp2cb G A 8: 33,617,049 R254Q probably benign Het
Qser1 A T 2: 104,789,421 S349T probably damaging Het
Rnf167 T A 11: 70,647,917 W17R probably damaging Het
Rpl21-ps4 A G 14: 11,227,879 noncoding transcript Het
Rxfp2 A T 5: 150,048,800 H158L probably benign Het
Ryr3 C T 2: 112,831,224 C1807Y probably damaging Het
Scaper T A 9: 55,838,180 E601D probably damaging Het
Secisbp2l A T 2: 125,752,915 C542S probably benign Het
Slc6a19 A G 13: 73,684,395 V393A possibly damaging Het
Stil A G 4: 115,009,377 N176S probably benign Het
Tap1 T A 17: 34,188,379 probably null Het
Tcl1b3 A T 12: 105,193,585 Q105L probably damaging Het
Tmem206 T A 1: 191,348,432 V283E probably damaging Het
Trappc10 G T 10: 78,217,188 A251D probably damaging Het
Trim43a G T 9: 88,582,153 C39F probably damaging Het
Ttn A T 2: 76,889,481 probably benign Het
Vmn2r110 A T 17: 20,583,689 L208* probably null Het
Vmn2r88 G T 14: 51,418,081 L583F probably damaging Het
Wasf1 C T 10: 40,936,582 H456Y unknown Het
Zfp120 A G 2: 150,118,185 I73T possibly damaging Het
Zfp990 T C 4: 145,536,728 C99R 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
PIT4151001:Homer1 UTSW 13 93349216 missense probably damaging 1.00
R0153:Homer1 UTSW 13 93391746 missense possibly damaging 0.92
R3025:Homer1 UTSW 13 93402074 nonsense probably null
R3437:Homer1 UTSW 13 93366421 intron probably benign
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
R7101:Homer1 UTSW 13 93356054 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCTTTCTGAGATGGCTGAATAC -3'
(R):5'- GTCCTAGGAAGACAGACAGCATC -3'

Sequencing Primer
(F):5'- CTGAGATGGCTGAATACAAATCTCC -3'
(R):5'- GACAGACAGCATCTCTCCATCTATTG -3'
Posted On2015-07-07