Incidental Mutation 'PIT4151001:Homer1'
ID 557040
Institutional Source Beutler Lab
Gene Symbol Homer1
Ensembl Gene ENSMUSG00000007617
Gene Name homer scaffolding protein 1
Synonyms PSD-Zip45, Ves-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.810) question?
Stock # PIT4151001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 93436143-93541637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 93485724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 118 (K118N)
Ref Sequence ENSEMBL: ENSMUSP00000078093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060490] [ENSMUST00000079086] [ENSMUST00000080127] [ENSMUST00000102752] [ENSMUST00000109492] [ENSMUST00000109493] [ENSMUST00000109494] [ENSMUST00000109495] [ENSMUST00000109496] [ENSMUST00000109497] [ENSMUST00000109498]
AlphaFold Q9Z2Y3
Predicted Effect probably damaging
Transcript: ENSMUST00000060490
AA Change: K102N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050471
Gene: ENSMUSG00000007617
AA Change: K102N

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: K118N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078093
Gene: ENSMUSG00000007617
AA Change: K118N

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: K102N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079026
Gene: ENSMUSG00000007617
AA Change: K102N

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 possibly damaging
Transcript: ENSMUST00000102752
AA Change: K102N

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099813
Gene: ENSMUSG00000007617
AA Change: K102N

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109492
AA Change: K102N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105118
Gene: ENSMUSG00000007617
AA Change: K102N

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
low complexity region 191 201 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109493
AA Change: K102N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105119
Gene: ENSMUSG00000007617
AA Change: K102N

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109494
AA Change: K102N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105120
Gene: ENSMUSG00000007617
AA Change: K102N

DomainStartEndE-ValueType
WH1 1 107 4.27e-46 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109495
AA Change: K102N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105121
Gene: ENSMUSG00000007617
AA Change: K102N

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: 92.7%
  • 3x: 90.4%
  • 10x: 84.6%
  • 20x: 72.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,930,670 (GRCm39) L1389P probably damaging Het
Acot10 C T 15: 20,666,684 (GRCm39) G19D probably damaging Het
Adam20 G A 8: 41,248,081 (GRCm39) V64I possibly damaging Het
Ak6 T A 13: 100,791,603 (GRCm39) D15E probably damaging Het
Atp1a2 A G 1: 172,118,288 (GRCm39) Y129H probably damaging Het
Caskin1 C T 17: 24,721,193 (GRCm39) T511I probably damaging Het
Casp9 C T 4: 141,521,259 (GRCm39) R32* probably null Het
Ccdc40 A G 11: 119,133,277 (GRCm39) E445G probably damaging Het
Cct8 T C 16: 87,284,545 (GRCm39) E273G probably damaging Het
Chd5 G A 4: 152,462,986 (GRCm39) V1380I probably damaging Het
Coro2b C T 9: 62,336,286 (GRCm39) G272D probably damaging Het
Cyp4a10 C A 4: 115,382,072 (GRCm39) H251Q probably damaging Het
Dgki A T 6: 37,040,916 (GRCm39) H298Q probably benign Het
Dnmt3b T G 2: 153,526,399 (GRCm39) probably null Het
Dzip1 A G 14: 119,160,200 (GRCm39) F3L probably damaging Het
Egf A G 3: 129,496,198 (GRCm39) S807P probably benign Het
Emc10 C T 7: 44,142,627 (GRCm39) R105H Het
Enthd1 T C 15: 80,336,937 (GRCm39) E499G probably damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Fer1l5 T A 1: 36,450,728 (GRCm39) M1242K probably benign Het
Gm3415 A G 5: 146,493,079 (GRCm39) R36G probably benign Het
Gm5797 C A 14: 7,330,318 (GRCm38) M114I possibly damaging Het
Gmppa A T 1: 75,418,468 (GRCm39) R284* probably null Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kcnc4 G A 3: 107,366,019 (GRCm39) A63V probably damaging Het
Kif11 T A 19: 37,373,045 (GRCm39) I88N probably damaging Het
Krba1 T C 6: 48,379,831 (GRCm39) F9S probably damaging Het
Nckap1 A G 2: 80,350,714 (GRCm39) probably null Het
Nox4 A T 7: 86,954,097 (GRCm39) Y134F probably benign Het
Or4a79 T A 2: 89,552,237 (GRCm39) T73S probably benign Het
Or51f23c-ps1 T C 7: 102,431,465 (GRCm39) S261P probably benign Het
Or52e15 A G 7: 104,645,424 (GRCm39) L229P probably damaging Het
Or5m13b T A 2: 85,754,386 (GRCm39) M258K probably damaging Het
Or5m8 T C 2: 85,822,538 (GRCm39) C126R probably damaging Het
Or8k22 G T 2: 86,163,173 (GRCm39) H176N possibly damaging Het
Pcdh17 G T 14: 84,684,798 (GRCm39) V422L probably benign Het
Pcx T A 19: 4,653,157 (GRCm39) V275E probably damaging Het
Pde6h A T 6: 136,938,185 (GRCm39) M53L possibly damaging Het
Phactr3 A T 2: 177,975,861 (GRCm39) E535D probably damaging Het
Pkn3 C A 2: 29,980,539 (GRCm39) T810N probably damaging Het
Pnpla5 T C 15: 84,002,827 (GRCm39) E252G probably damaging Het
Pramel21 T A 4: 143,342,722 (GRCm39) C276* probably null Het
Psg17 A G 7: 18,548,530 (GRCm39) S414P probably benign Het
Pzp T A 6: 128,502,259 (GRCm39) Q30L probably benign Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Ret T C 6: 118,141,702 (GRCm39) D975G probably benign Het
Sarnp A G 10: 128,713,235 (GRCm39) I209V probably benign Het
Sorl1 A T 9: 41,879,918 (GRCm39) V2210D probably damaging Het
Stard9 C T 2: 120,533,237 (GRCm39) Q3165* probably null Het
Tmem64 A T 4: 15,283,159 (GRCm39) I319F probably damaging Het
Vmn1r176 A T 7: 23,534,808 (GRCm39) V115D probably damaging Het
Vmn1r2 A G 4: 3,172,623 (GRCm39) T181A probably benign Het
Vmn2r2 T C 3: 64,024,334 (GRCm39) E749G possibly damaging Het
Vps35 G A 8: 86,010,677 (GRCm39) T222I possibly damaging Het
Zfp532 A G 18: 65,757,485 (GRCm39) T473A probably damaging Het
Zfyve16 A G 13: 92,657,712 (GRCm39) V733A probably damaging Het
Zranb1 T A 7: 132,551,723 (GRCm39) S125T probably benign 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
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
R5665:Homer1 UTSW 13 93,492,610 (GRCm39) missense probably benign 0.03
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'- AGCCAGCTTGCCAAATTATAAC -3'
(R):5'- GCAGTGTACTTCTATACCTACTTTG -3'

Sequencing Primer
(F):5'- CTTCTTTATGTGGTCATGTTTTGAAC -3'
(R):5'- CCTACTTTGGTAATTTATTTTGCCAC -3'
Posted On 2019-06-07