Incidental Mutation 'IGL02825:Olfm1'
ID 361169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfm1
Ensembl Gene ENSMUSG00000026833
Gene Name olfactomedin 1
Synonyms Noelin 1, Pancortin 1-4, Noelin 2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02825
Quality Score
Status
Chromosome 2
Chromosomal Location 28083105-28120748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28119090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 242 (N242D)
Ref Sequence ENSEMBL: ENSMUSP00000097815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028177] [ENSMUST00000100244] [ENSMUST00000113920]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028177
AA Change: N270D

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: N270D

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Noelin-1 54 153 1.5e-50 PFAM
Blast:OLF 170 215 1e-5 BLAST
OLF 228 478 5.43e-170 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100244
AA Change: N242D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: N242D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Noelin-1 25 125 2.6e-53 PFAM
Blast:OLF 142 187 1e-5 BLAST
OLF 200 450 5.43e-170 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113920
AA Change: N227D

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: N227D

DomainStartEndE-ValueType
Pfam:Noelin-1 10 110 7.4e-53 PFAM
Blast:OLF 127 172 1e-5 BLAST
OLF 185 435 5.43e-170 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display decreased cerebral infarction size and reduced fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,733,710 (GRCm39) V163A possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
B3gnt4 T C 5: 123,649,114 (GRCm39) F160L possibly damaging Het
Brd3 T C 2: 27,339,275 (GRCm39) E685G probably damaging Het
Cacna2d2 C T 9: 107,401,659 (GRCm39) R746C probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chl1 T A 6: 103,645,764 (GRCm39) V268E possibly damaging Het
Cpb1 T A 3: 20,303,889 (GRCm39) I392F probably damaging Het
Dnai1 T C 4: 41,625,101 (GRCm39) probably benign Het
Dync2h1 T C 9: 6,955,901 (GRCm39) probably benign Het
Edc4 T C 8: 106,617,243 (GRCm39) S1021P probably damaging Het
Exoc7 A C 11: 116,188,411 (GRCm39) L296R probably damaging Het
Fgd5 A G 6: 92,015,068 (GRCm39) probably null Het
Gm28042 T A 2: 119,862,125 (GRCm39) M232K probably damaging Het
Ints1 A T 5: 139,750,494 (GRCm39) S888T probably benign Het
Kirrel1 A T 3: 86,996,595 (GRCm39) probably benign Het
Lrp1 C T 10: 127,378,474 (GRCm39) R4037Q probably damaging Het
Lrrc37 G A 11: 103,507,894 (GRCm39) probably benign Het
Lrrn3 A T 12: 41,502,592 (GRCm39) V575D probably damaging Het
Mapk11 A G 15: 89,030,585 (GRCm39) Y103H probably damaging Het
Mrpl19 G T 6: 81,942,796 (GRCm39) T38K probably benign Het
Nefl A T 14: 68,321,795 (GRCm39) K128N possibly damaging Het
Oprd1 T A 4: 131,844,670 (GRCm39) T113S probably damaging Het
Or10d1 A T 9: 39,483,877 (GRCm39) I226N probably damaging Het
Or52s19 T C 7: 103,007,568 (GRCm39) I278V probably benign Het
Pds5b C T 5: 150,652,435 (GRCm39) T234I possibly damaging Het
Prpf3 A T 3: 95,760,792 (GRCm39) C37S probably damaging Het
Rpgrip1l G A 8: 92,031,433 (GRCm39) T148M possibly damaging Het
Rph3a T C 5: 121,083,509 (GRCm39) K587R possibly damaging Het
Scn3b T C 9: 40,188,441 (GRCm39) C5R probably damaging Het
Sirpa C T 2: 129,457,372 (GRCm39) P149S probably damaging Het
Slco1a1 A T 6: 141,864,343 (GRCm39) C486S probably damaging Het
Spin1 C A 13: 51,277,332 (GRCm39) probably benign Het
Stom C A 2: 35,211,644 (GRCm39) V126F probably damaging Het
Tom1 A G 8: 75,783,883 (GRCm39) D64G probably damaging Het
Trbv4 T A 6: 41,036,613 (GRCm39) L46Q probably damaging Het
Trhr A T 15: 44,092,921 (GRCm39) D386V possibly damaging Het
Vmn2r101 T A 17: 19,810,132 (GRCm39) I306N probably benign Het
Vmn2r51 C T 7: 9,832,046 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,576,274 (GRCm39) probably null Het
Zfp277 T C 12: 40,367,175 (GRCm39) K494E probably benign Het
Zranb3 A T 1: 127,887,489 (GRCm39) S979R probably benign Het
Other mutations in Olfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Olfm1 APN 2 28,104,715 (GRCm39) missense probably damaging 1.00
IGL01326:Olfm1 APN 2 28,119,564 (GRCm39) missense probably damaging 1.00
IGL01358:Olfm1 APN 2 28,119,507 (GRCm39) missense probably damaging 1.00
IGL02076:Olfm1 APN 2 28,112,637 (GRCm39) missense probably damaging 0.99
IGL02337:Olfm1 APN 2 28,119,697 (GRCm39) missense probably damaging 1.00
IGL02693:Olfm1 APN 2 28,102,662 (GRCm39) missense probably damaging 1.00
IGL02974:Olfm1 APN 2 28,119,701 (GRCm39) missense probably damaging 1.00
R0266:Olfm1 UTSW 2 28,119,619 (GRCm39) missense probably damaging 1.00
R0348:Olfm1 UTSW 2 28,102,554 (GRCm39) missense probably benign 0.26
R0411:Olfm1 UTSW 2 28,098,223 (GRCm39) missense possibly damaging 0.51
R0542:Olfm1 UTSW 2 28,104,640 (GRCm39) missense possibly damaging 0.85
R1252:Olfm1 UTSW 2 28,119,447 (GRCm39) missense probably benign 0.01
R1649:Olfm1 UTSW 2 28,119,279 (GRCm39) missense possibly damaging 0.71
R1696:Olfm1 UTSW 2 28,098,128 (GRCm39) nonsense probably null
R1931:Olfm1 UTSW 2 28,112,674 (GRCm39) splice site probably null
R1986:Olfm1 UTSW 2 28,104,718 (GRCm39) missense probably benign 0.13
R3749:Olfm1 UTSW 2 28,098,100 (GRCm39) missense probably damaging 0.96
R3913:Olfm1 UTSW 2 28,098,186 (GRCm39) missense possibly damaging 0.88
R4927:Olfm1 UTSW 2 28,104,798 (GRCm39) missense probably benign 0.18
R4940:Olfm1 UTSW 2 28,112,602 (GRCm39) missense possibly damaging 0.51
R7033:Olfm1 UTSW 2 28,119,348 (GRCm39) missense probably damaging 1.00
R7059:Olfm1 UTSW 2 28,112,628 (GRCm39) missense probably damaging 1.00
R8046:Olfm1 UTSW 2 28,119,135 (GRCm39) missense possibly damaging 0.71
X0018:Olfm1 UTSW 2 28,119,381 (GRCm39) missense possibly damaging 0.51
Posted On 2015-12-18