Incidental Mutation 'R6709:Olfm2'
ID 529064
Institutional Source Beutler Lab
Gene Symbol Olfm2
Ensembl Gene ENSMUSG00000032172
Gene Name olfactomedin 2
Synonyms A030009A06Rik
MMRRC Submission 044827-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.547) question?
Stock # R6709 (G1)
Quality Score 206.009
Status Validated
Chromosome 9
Chromosomal Location 20578986-20657645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20584009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 116 (Y116H)
Ref Sequence ENSEMBL: ENSMUSP00000151018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034692] [ENSMUST00000215999] [ENSMUST00000217198]
AlphaFold Q8BM13
Predicted Effect probably damaging
Transcript: ENSMUST00000034692
AA Change: Y86H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034692
Gene: ENSMUSG00000032172
AA Change: Y86H

DomainStartEndE-ValueType
Pfam:Noelin-1 19 118 3.8e-44 PFAM
Blast:OLF 132 177 2e-18 BLAST
OLF 190 440 4.32e-123 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215039
Predicted Effect possibly damaging
Transcript: ENSMUST00000215999
AA Change: Y94H

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000217198
AA Change: Y116H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3492 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit moderate locomotor and anxiety-related behavioral abnormalities, altered visual evoked potential, and reduced compactness of myelin sheaths in the optic nerve. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,552,779 (GRCm39) D36G possibly damaging Het
Actn1 T A 12: 80,240,418 (GRCm39) D223V probably damaging Het
Adgre1 A T 17: 57,713,917 (GRCm39) N201Y probably benign Het
Agbl4 T A 4: 111,423,979 (GRCm39) probably benign Het
Atg4d T C 9: 21,179,944 (GRCm39) Y272H probably damaging Het
Ccdc39 T C 3: 33,884,242 (GRCm39) T367A possibly damaging Het
Ceacam2 T C 7: 25,229,262 (GRCm39) T293A possibly damaging Het
Col19a1 C T 1: 24,321,577 (GRCm39) G977E probably damaging Het
Csnka2ip A T 16: 64,298,932 (GRCm39) H33Q possibly damaging Het
Cyp3a44 A T 5: 145,714,902 (GRCm39) probably null Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Dnah12 A G 14: 26,594,706 (GRCm39) D3492G probably damaging Het
Eepd1 A T 9: 25,394,164 (GRCm39) T143S probably benign Het
Eml2 A G 7: 18,940,136 (GRCm39) *650W probably null Het
Etv1 C T 12: 38,833,796 (GRCm39) T19I possibly damaging Het
Fam133b T C 5: 3,619,059 (GRCm39) probably benign Het
Fgd4 T C 16: 16,302,345 (GRCm39) H70R probably benign Het
Galnt11 C T 5: 25,453,851 (GRCm39) R26C probably damaging Het
Gm136 T A 4: 34,755,884 (GRCm39) Y43F probably damaging Het
Gm17409 A T 2: 58,361,088 (GRCm39) probably null Het
Gm5591 A G 7: 38,221,499 (GRCm39) I190T probably benign Het
H1f9 T A 11: 94,858,772 (GRCm39) S22R possibly damaging Het
Htra1 C T 7: 130,537,948 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ints8 A T 4: 11,221,117 (GRCm39) Y753N possibly damaging Het
Itprid2 A G 2: 79,475,276 (GRCm39) T412A probably benign Het
L3mbtl3 G A 10: 26,158,695 (GRCm39) T651I unknown Het
Ltb4r2 A C 14: 55,999,990 (GRCm39) T204P possibly damaging Het
Ltbp3 G A 19: 5,797,885 (GRCm39) probably null Het
Mlxip A T 5: 123,585,339 (GRCm39) I616F possibly damaging Het
Mpz A T 1: 170,978,301 (GRCm39) probably benign Het
Myh11 A G 16: 14,041,358 (GRCm39) probably null Het
Myo7a A G 7: 97,703,906 (GRCm39) L1949P probably damaging Het
Or2t47 T C 11: 58,442,862 (GRCm39) M68V probably benign Het
Or6s1 A T 14: 51,308,286 (GRCm39) L188H probably damaging Het
Pde4d T G 13: 110,084,813 (GRCm39) L470R probably damaging Het
Plxna2 T A 1: 194,472,074 (GRCm39) N1013K probably benign Het
Ptpn13 A C 5: 103,734,622 (GRCm39) Q2118P probably benign Het
Pwwp2a C G 11: 43,595,554 (GRCm39) L240V probably damaging Het
Reep2 T C 18: 34,979,263 (GRCm39) L196P probably benign Het
Shank1 A T 7: 44,003,600 (GRCm39) N1765I probably benign Het
Slc25a13 A G 6: 6,073,440 (GRCm39) S473P possibly damaging Het
Slc33a1 C A 3: 63,852,122 (GRCm39) M450I possibly damaging Het
Slc45a2 A G 15: 11,001,216 (GRCm39) Y105C possibly damaging Het
Slc4a11 A T 2: 130,526,616 (GRCm39) L812Q probably damaging Het
Sox6 T C 7: 115,301,024 (GRCm39) probably null Het
Sv2b A T 7: 74,773,887 (GRCm39) M528K probably benign Het
Syngr4 A G 7: 45,538,122 (GRCm39) V82A probably benign Het
Tmem185b G A 1: 119,454,604 (GRCm39) V122I probably benign Het
Trdn A G 10: 33,340,587 (GRCm39) D607G probably benign Het
Trim10 T A 17: 37,183,262 (GRCm39) I186N probably damaging Het
Trp53i11 A T 2: 93,030,163 (GRCm39) M157L probably benign Het
Ubr3 C A 2: 69,843,436 (GRCm39) H1559N probably damaging Het
Usp25 A C 16: 76,880,820 (GRCm39) E727A probably benign Het
Vmn2r42 T A 7: 8,195,618 (GRCm39) R509S probably benign Het
Vmn2r69 T C 7: 85,061,069 (GRCm39) N172D probably benign Het
Zfp14 T C 7: 29,737,557 (GRCm39) Y476C probably damaging Het
Other mutations in Olfm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02105:Olfm2 APN 9 20,583,476 (GRCm39) missense probably damaging 1.00
IGL03276:Olfm2 APN 9 20,580,083 (GRCm39) splice site probably benign
IGL03352:Olfm2 APN 9 20,580,019 (GRCm39) missense probably damaging 1.00
R0015:Olfm2 UTSW 9 20,580,037 (GRCm39) missense probably damaging 1.00
R0847:Olfm2 UTSW 9 20,579,953 (GRCm39) missense probably damaging 1.00
R1051:Olfm2 UTSW 9 20,579,759 (GRCm39) missense probably damaging 1.00
R3730:Olfm2 UTSW 9 20,584,063 (GRCm39) missense probably damaging 1.00
R5366:Olfm2 UTSW 9 20,579,708 (GRCm39) missense probably benign 0.04
R5665:Olfm2 UTSW 9 20,579,840 (GRCm39) splice site probably null
R5986:Olfm2 UTSW 9 20,586,946 (GRCm39) missense probably damaging 1.00
R6046:Olfm2 UTSW 9 20,579,824 (GRCm39) missense probably damaging 1.00
R7020:Olfm2 UTSW 9 20,579,864 (GRCm39) missense probably damaging 1.00
R7636:Olfm2 UTSW 9 20,579,593 (GRCm39) missense possibly damaging 0.72
R8341:Olfm2 UTSW 9 20,583,918 (GRCm39) splice site probably null
R8782:Olfm2 UTSW 9 20,579,501 (GRCm39) missense probably damaging 1.00
R9743:Olfm2 UTSW 9 20,579,785 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATTTCTTCCCAGACGTGGC -3'
(R):5'- GTTGCCAGTGAGATCAGAGG -3'

Sequencing Primer
(F):5'- CTTGGAACTCAGGTCCTCTGG -3'
(R):5'- TTGCCAGTGAGATCAGAGGAGAATAG -3'
Posted On 2018-07-24