Incidental Mutation 'R7298:Olfml3'
ID 566785
Institutional Source Beutler Lab
Gene Symbol Olfml3
Ensembl Gene ENSMUSG00000027848
Gene Name olfactomedin-like 3
Synonyms HNOEL-iso, mONT3, ONT3, 2810002E22Rik
MMRRC Submission 045402-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7298 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 103642710-103645317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103643176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 402 (K402E)
Ref Sequence ENSEMBL: ENSMUSP00000029440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029440] [ENSMUST00000106852] [ENSMUST00000118317] [ENSMUST00000169286]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029440
AA Change: K402E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029440
Gene: ENSMUSG00000027848
AA Change: K402E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
Blast:OLF 65 133 8e-34 BLAST
OLF 137 401 9.22e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106852
Predicted Effect probably benign
Transcript: ENSMUST00000118317
SMART Domains Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 151 170 N/A INTRINSIC
S_TKc 190 518 3.39e-76 SMART
low complexity region 586 603 N/A INTRINSIC
low complexity region 679 695 N/A INTRINSIC
low complexity region 941 959 N/A INTRINSIC
low complexity region 1047 1063 N/A INTRINSIC
low complexity region 1095 1111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169286
Meta Mutation Damage Score 0.1856 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (52/54)
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 olfactomedin-like gene family which also includes genes encoding noelin, tiarin, myocilin, amassin, optimedin, photomedin, and latrophilin. The encoded protein is a secreted extracellular matrix glycoprotein with a C-terminal olfactomedin domain that facilitates protein-protein interactions, cell adhesion, and intercellular interactions. It serves as both a scaffold protein that recruits bone morphogenetic protein 1 to its substrate chordin, and as a vascular tissue remodeler with pro-angiogenic properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,807,106 (GRCm39) T51S probably benign Het
Abcc1 A G 16: 14,214,336 (GRCm39) D204G possibly damaging Het
Acaa1b C T 9: 118,980,915 (GRCm39) E172K probably benign Het
Adamts5 G A 16: 85,696,806 (GRCm39) T117I probably benign Het
Agmat A G 4: 141,474,275 (GRCm39) E52G possibly damaging Het
Alg9 C T 9: 50,690,361 (GRCm39) A121V probably damaging Het
Atf7ip2 T C 16: 10,027,032 (GRCm39) I100T possibly damaging Het
Calm2 T C 17: 87,750,165 (GRCm39) probably null Het
Cfap44 A T 16: 44,301,775 (GRCm39) M1838L probably benign Het
Cym A G 3: 107,127,009 (GRCm39) Y49H probably benign Het
Dchs1 G A 7: 105,404,338 (GRCm39) R2735* probably null Het
Dnajc6 T C 4: 101,463,808 (GRCm39) I187T probably benign Het
Fam151a G T 4: 106,592,725 (GRCm39) R69L possibly damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Gm9922 C A 14: 101,966,961 (GRCm39) G97V unknown Het
Hacl1 A T 14: 31,338,443 (GRCm39) M378K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv1-82 A T 12: 115,916,574 (GRCm39) I6N possibly damaging Het
Kctd19 A C 8: 106,109,616 (GRCm39) V942G probably benign Het
Lce1l C T 3: 92,757,483 (GRCm39) C125Y unknown Het
Mmp8 T C 9: 7,560,449 (GRCm39) F42S probably damaging Het
Myom2 T C 8: 15,148,411 (GRCm39) L529P probably damaging Het
Nectin3 A T 16: 46,268,759 (GRCm39) Y548N probably damaging Het
Or4c12b T C 2: 89,646,865 (GRCm39) F59S probably damaging Het
Or6aa1 T A 7: 86,044,131 (GRCm39) T192S probably damaging Het
Otof T A 5: 30,545,614 (GRCm39) I514F probably damaging Het
Pira12 T A 7: 3,898,264 (GRCm39) I353F possibly damaging Het
Plch1 G T 3: 63,623,458 (GRCm39) S603* probably null Het
Ppa1 T A 10: 61,502,691 (GRCm39) D171E probably benign Het
Pramel23 C A 4: 143,425,075 (GRCm39) D123Y probably benign Het
Prss34 T C 17: 25,518,737 (GRCm39) C240R probably damaging Het
Ptpre A G 7: 135,285,016 (GRCm39) D714G probably damaging Het
Ranbp9 A G 13: 43,633,936 (GRCm39) F157L probably benign Het
Rbbp6 A G 7: 122,600,417 (GRCm39) K1475E unknown Het
Retnlg A G 16: 48,693,237 (GRCm39) N5D probably benign Het
Rev1 T C 1: 38,092,185 (GRCm39) T1245A probably damaging Het
Rngtt G T 4: 33,362,927 (GRCm39) L360F probably damaging Het
Scrib A C 15: 75,936,610 (GRCm39) V447G probably damaging Het
Slc22a6 C A 19: 8,598,684 (GRCm39) A247E possibly damaging Het
Slc25a20 G A 9: 108,539,343 (GRCm39) probably benign Het
Spag16 T A 1: 69,958,585 (GRCm39) probably null Het
Stx3 C T 19: 11,767,412 (GRCm39) W87* probably null Het
Syngap1 T A 17: 27,181,961 (GRCm39) M1158K possibly damaging Het
Tmed9 C A 13: 55,741,107 (GRCm39) H41N possibly damaging Het
Trav15-2-dv6-2 G A 14: 53,887,242 (GRCm39) S54N probably benign Het
Tyk2 C T 9: 21,020,156 (GRCm39) V1001I probably benign Het
Ugt8a A G 3: 125,709,065 (GRCm39) V15A probably benign Het
Uhrf2 A G 19: 30,065,949 (GRCm39) E661G probably benign Het
Vmn2r77 T A 7: 86,449,979 (GRCm39) I75N probably benign Het
Zfp346 T G 13: 55,278,416 (GRCm39) V258G probably damaging Het
Zfp87 T A 13: 74,520,513 (GRCm39) K188N possibly damaging Het
Zgrf1 C A 3: 127,377,299 (GRCm39) S848* probably null Het
Other mutations in Olfml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Olfml3 APN 3 103,644,298 (GRCm39) splice site probably null
IGL02130:Olfml3 APN 3 103,644,283 (GRCm39) missense probably benign 0.20
R0133:Olfml3 UTSW 3 103,644,342 (GRCm39) splice site probably null
R0427:Olfml3 UTSW 3 103,644,330 (GRCm39) missense probably benign 0.27
R2130:Olfml3 UTSW 3 103,643,185 (GRCm39) missense probably benign 0.05
R2131:Olfml3 UTSW 3 103,643,185 (GRCm39) missense probably benign 0.05
R2133:Olfml3 UTSW 3 103,643,185 (GRCm39) missense probably benign 0.05
R4688:Olfml3 UTSW 3 103,639,497 (GRCm39) utr 3 prime probably benign
R5211:Olfml3 UTSW 3 103,644,515 (GRCm39) missense probably benign
R5227:Olfml3 UTSW 3 103,643,737 (GRCm39) missense possibly damaging 0.86
R6223:Olfml3 UTSW 3 103,643,776 (GRCm39) missense probably damaging 1.00
R6493:Olfml3 UTSW 3 103,643,523 (GRCm39) missense possibly damaging 0.61
R7128:Olfml3 UTSW 3 103,644,484 (GRCm39) missense probably benign
R7191:Olfml3 UTSW 3 103,643,176 (GRCm39) missense probably damaging 0.99
R7224:Olfml3 UTSW 3 103,643,176 (GRCm39) missense probably damaging 0.99
R7299:Olfml3 UTSW 3 103,643,176 (GRCm39) missense probably damaging 0.99
R7300:Olfml3 UTSW 3 103,643,176 (GRCm39) missense probably damaging 0.99
R7355:Olfml3 UTSW 3 103,643,395 (GRCm39) missense probably damaging 1.00
R9452:Olfml3 UTSW 3 103,643,575 (GRCm39) missense probably benign 0.00
R9568:Olfml3 UTSW 3 103,644,282 (GRCm39) missense possibly damaging 0.89
X0058:Olfml3 UTSW 3 103,639,432 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- CTGCATAAAACAGAGGGGCTTG -3'
(R):5'- TGTCATCTGTGGGACCCTGTAC -3'

Sequencing Primer
(F):5'- CAGAGGGGCTTGAGAATTTGG -3'
(R):5'- GGGACCCTGTACGTTGTCTATAACAC -3'
Posted On 2019-06-26