Incidental Mutation 'R0544:Homer2'
ID44682
Institutional Source Beutler Lab
Gene Symbol Homer2
Ensembl Gene ENSMUSG00000025813
Gene Namehomer scaffolding protein 2
Synonyms9330120H11Rik, Cupidin, Vesl-2, CPD
MMRRC Submission 038736-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #R0544 (G1)
Quality Score191
Status Validated
Chromosome7
Chromosomal Location81600481-81707527 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 81649678 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 13 (V13G)
Ref Sequence ENSEMBL: ENSMUSP00000146787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026922] [ENSMUST00000098326] [ENSMUST00000207371] [ENSMUST00000207983] [ENSMUST00000208937]
Predicted Effect probably damaging
Transcript: ENSMUST00000026922
AA Change: V13G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026922
Gene: ENSMUSG00000025813
AA Change: V13G

DomainStartEndE-ValueType
WH1 1 107 1.86e-37 SMART
coiled coil region 162 320 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098326
SMART Domains Protein: ENSMUSP00000095931
Gene: ENSMUSG00000025813

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 probably benign
Transcript: ENSMUST00000207371
Predicted Effect probably damaging
Transcript: ENSMUST00000207983
AA Change: V13G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208107
Predicted Effect probably benign
Transcript: ENSMUST00000208937
Meta Mutation Damage Score 0.498 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (97/99)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,157,314 F130L probably benign Het
Aatf C T 11: 84,423,005 R511Q probably benign Het
Acot12 A T 13: 91,784,656 D516V probably benign Het
Adgrb2 T C 4: 130,017,542 V1207A probably damaging Het
Akap9 A G 5: 4,069,185 D3564G probably benign Het
Arl8b C T 6: 108,783,228 probably benign Het
Atf6b T C 17: 34,648,299 probably null Het
Atrn G A 2: 130,986,826 G1097D probably damaging Het
Btbd6 A G 12: 112,977,082 E61G probably damaging Het
Car15 A G 16: 17,835,816 probably benign Het
Car5b G A X: 163,979,301 R282C probably damaging Het
Carmil2 C T 8: 105,691,235 A654V probably damaging Het
Cbwd1 A G 19: 24,949,211 Y159H possibly damaging Het
Ccdc88b A G 19: 6,857,266 L124P probably damaging Het
Ccnd1 A G 7: 144,937,286 probably benign Het
Cd3eap G T 7: 19,359,141 P38Q probably damaging Het
Cenph A G 13: 100,772,741 S53P probably damaging Het
Chrm3 T A 13: 9,877,579 I474F probably damaging Het
Cln8 T A 8: 14,896,769 V261E probably benign Het
Coa6 A G 8: 126,422,760 D25G probably benign Het
Col4a1 T G 8: 11,226,487 probably benign Het
Cpxm1 T C 2: 130,393,135 H588R probably damaging Het
Cul7 T C 17: 46,663,544 L1516P possibly damaging Het
Dcdc5 A G 2: 106,351,564 noncoding transcript Het
Ddx5 T C 11: 106,782,462 probably benign Het
Dhx16 C A 17: 35,881,659 P161Q probably benign Het
Dpy19l1 A T 9: 24,485,110 probably benign Het
Fastkd5 A G 2: 130,615,296 V458A probably damaging Het
Fhit A G 14: 9,870,172 V99A probably damaging Het
Fndc3a A T 14: 72,557,622 probably benign Het
Foxd4 A T 19: 24,899,818 S339R possibly damaging Het
Gm10842 T A 11: 105,147,054 D54E unknown Het
Gns T A 10: 121,376,267 Y94* probably null Het
Gp2 A G 7: 119,454,496 W81R probably benign Het
Hdac5 T G 11: 102,196,096 Q46P probably damaging Het
Irs3 A G 5: 137,643,839 S446P probably benign Het
Ism2 G T 12: 87,285,339 D141E probably damaging Het
Jak1 T A 4: 101,191,625 M19L probably benign Het
Kcnd3 C A 3: 105,658,759 R419S probably damaging Het
Lamb1 T C 12: 31,282,695 F272S probably damaging Het
Ldlrad2 T G 4: 137,572,268 T82P possibly damaging Het
Lrp2 T C 2: 69,491,931 K1885E probably benign Het
Mbd5 T C 2: 49,257,209 V477A possibly damaging Het
Mrps33 A T 6: 39,805,554 M11K possibly damaging Het
Mylk G C 16: 34,879,475 E403Q possibly damaging Het
Myom2 T A 8: 15,069,796 V184E probably damaging Het
Ncor1 C A 11: 62,333,776 G1210V probably damaging Het
Ncor1 C T 11: 62,333,777 G1210R probably damaging Het
Nlrp4a A G 7: 26,457,130 D760G probably benign Het
Noc4l A G 5: 110,651,123 V231A possibly damaging Het
Olfr1056 T C 2: 86,355,663 T240A probably damaging Het
Olfr1217 T C 2: 89,023,826 Y59C probably damaging Het
Olfr1306 A T 2: 111,912,560 Y123* probably null Het
Olfr1450 A G 19: 12,953,702 T38A possibly damaging Het
Olfr193 T A 16: 59,110,225 K128N probably benign Het
Olfr521 T C 7: 99,767,660 I166T probably benign Het
Olfr598 T A 7: 103,328,651 I55N probably damaging Het
Olfr733 A T 14: 50,298,682 V209E probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,748,449 probably benign Het
Patj T A 4: 98,569,110 M1283K probably damaging Het
Pkd1 C T 17: 24,585,683 T790I probably damaging Het
Plod3 C A 5: 136,991,611 T526K probably benign Het
Plxnb2 C A 15: 89,158,613 probably benign Het
Pramel1 T A 4: 143,397,605 D283E possibly damaging Het
Prpf40a T C 2: 53,141,651 probably benign Het
Psg23 A T 7: 18,614,682 Y67N probably damaging Het
Rftn1 T A 17: 49,994,261 Q242L possibly damaging Het
Rp1l1 A T 14: 64,032,066 E1700D probably benign Het
Scube3 T C 17: 28,164,153 F435S probably damaging Het
Sdk2 T C 11: 113,781,010 Y2104C probably damaging Het
Sept11 A G 5: 93,165,368 E358G possibly damaging Het
Sh3bp1 T C 15: 78,905,775 L246P probably damaging Het
Sis T C 3: 72,951,642 Y352C probably damaging Het
Skint1 T C 4: 112,021,365 S165P probably damaging Het
Skint10 C T 4: 112,728,811 probably benign Het
Slc1a2 A T 2: 102,756,072 R340S probably damaging Het
Slc26a3 C A 12: 31,447,740 Q48K probably benign Het
Slc5a2 A T 7: 128,269,999 Y317F probably damaging Het
Sorbs3 T A 14: 70,193,926 T262S probably benign Het
Tas2r118 G T 6: 23,969,401 S220R probably damaging Het
Terf2ip C A 8: 112,015,342 Q223K possibly damaging Het
Tespa1 A G 10: 130,360,811 Q206R probably damaging Het
Tex10 T C 4: 48,462,766 probably null Het
Tle1 T A 4: 72,124,990 K547N probably damaging Het
Tmem131l T A 3: 83,898,546 Q1530L probably damaging Het
Tomm20l A G 12: 71,123,077 E145G possibly damaging Het
Tra2a C T 6: 49,250,951 probably benign Het
Trim32 G A 4: 65,613,254 R16Q probably damaging Het
Trim37 T A 11: 87,145,502 Y121* probably null Het
Tube1 C T 10: 39,140,945 probably null Het
Usp6nl T A 2: 6,421,009 V187D probably damaging Het
Vmn1r13 T C 6: 57,210,263 F136L probably benign Het
Vmn1r201 A T 13: 22,475,146 I177F probably benign Het
Vmn1r203 A T 13: 22,524,273 T75S possibly damaging Het
Vmn1r225 C T 17: 20,502,456 S53L probably benign Het
Xab2 A T 8: 3,610,994 W707R probably damaging Het
Zfp808 T C 13: 62,169,434 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
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
R6033:Homer2 UTSW 7 81618679 missense possibly damaging 0.92
R6489:Homer2 UTSW 7 81624278 missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CAGCAGGGTTTGGGATACAGCTTC -3'
(R):5'- CCTCCAGGTAGTGCAGCTAAATGG -3'

Sequencing Primer
(F):5'- TGCACCAAACTGCTTTGGAATC -3'
(R):5'- cctcctccttcccctcc -3'
Posted On2013-06-11