Incidental Mutation 'R4927:Olfm1'
ID 380885
Institutional Source Beutler Lab
Gene Symbol Olfm1
Ensembl Gene ENSMUSG00000026833
Gene Name olfactomedin 1
Synonyms Noelin 1, Pancortin 1-4, Noelin 2
MMRRC Submission 042528-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4927 (G1)
Quality Score 224
Status Validated
Chromosome 2
Chromosomal Location 28083105-28120748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 28104798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 212 (S212A)
Ref Sequence ENSEMBL: ENSMUSP00000028177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028177] [ENSMUST00000100244] [ENSMUST00000102879] [ENSMUST00000113920]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028177
AA Change: S212A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: S212A

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 benign
Transcript: ENSMUST00000100244
AA Change: S184A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: S184A

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 probably benign
Transcript: ENSMUST00000102879
SMART Domains Protein: ENSMUSP00000099943
Gene: ENSMUSG00000026833

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Noelin-1 53 153 4.3e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113920
AA Change: S169A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: S169A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152415
Meta Mutation Damage Score 0.1013 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (76/78)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adamts2 T A 11: 50,694,639 (GRCm39) L1142* probably null Het
Arl13b C A 16: 62,622,150 (GRCm39) G381V probably damaging Het
Ash1l G T 3: 88,892,641 (GRCm39) V1507F probably damaging Het
Babam2 T A 5: 31,859,408 (GRCm39) F38I probably benign Het
Bend4 T C 5: 67,557,619 (GRCm39) Y399C probably damaging Het
Btn1a1 A T 13: 23,644,794 (GRCm39) probably null Het
Cacna1g A T 11: 94,319,973 (GRCm39) L1401Q probably damaging Het
Ccdc192 C T 18: 57,863,888 (GRCm39) Q213* probably null Het
Cep192 T C 18: 67,968,195 (GRCm39) V893A probably benign Het
Cnot10 A T 9: 114,447,012 (GRCm39) Y355N probably damaging Het
Col6a5 G C 9: 105,811,163 (GRCm39) S785R unknown Het
Cpa3 A G 3: 20,276,303 (GRCm39) L310P probably damaging Het
Cux2 A G 5: 122,015,152 (GRCm39) I247T probably benign Het
Dab1 A G 4: 104,561,449 (GRCm39) T245A probably benign Het
Dmrta1 A T 4: 89,579,985 (GRCm39) D315V probably damaging Het
Dnah12 T A 14: 26,583,762 (GRCm39) L599* probably null Het
Dync1h1 T C 12: 110,629,289 (GRCm39) I4231T possibly damaging Het
Fat1 T C 8: 45,476,000 (GRCm39) V1659A probably damaging Het
Flot2 G A 11: 77,949,888 (GRCm39) V406M probably damaging Het
Galnt2 A G 8: 125,032,362 (GRCm39) D75G probably damaging Het
Gcnt3 A T 9: 69,942,464 (GRCm39) C35S probably damaging Het
Gp2 A G 7: 119,052,118 (GRCm39) F199L probably benign Het
Gramd2b C T 18: 56,618,523 (GRCm39) P244S probably damaging Het
Hhipl1 T C 12: 108,278,203 (GRCm39) L177P probably damaging Het
Homez T C 14: 55,095,264 (GRCm39) E148G possibly damaging Het
Kcnab3 G A 11: 69,217,572 (GRCm39) C22Y possibly damaging Het
Kcnh8 C A 17: 53,185,009 (GRCm39) S430R probably damaging Het
Kcnn2 T C 18: 45,692,798 (GRCm39) C125R probably benign Het
Klhl7 G A 5: 24,346,185 (GRCm39) R277Q possibly damaging Het
Krt78 A G 15: 101,855,334 (GRCm39) S826P probably benign Het
Krtap14 T C 16: 88,622,919 (GRCm39) Y20C possibly damaging Het
Lrcol1 A G 5: 110,502,163 (GRCm39) probably null Het
Lrrc10b G A 19: 10,434,226 (GRCm39) P152S probably damaging Het
Lrrn3 C G 12: 41,503,124 (GRCm39) D398H probably damaging Het
Map3k19 T C 1: 127,749,932 (GRCm39) I1140V probably benign Het
Mos G A 4: 3,871,093 (GRCm39) T241M probably damaging Het
Nol8 A G 13: 49,807,901 (GRCm39) E39G possibly damaging Het
Or2ak6 T A 11: 58,592,633 (GRCm39) F35L probably damaging Het
Pip4p2 G T 4: 14,912,458 (GRCm39) R189L probably damaging Het
Plec G T 15: 76,061,162 (GRCm39) T2947K probably damaging Het
Pramel27 A T 4: 143,578,187 (GRCm39) Q149L probably damaging Het
Rasgrp3 A G 17: 75,823,350 (GRCm39) M474V probably benign Het
Ryr1 T C 7: 28,719,408 (GRCm39) Y4333C unknown Het
Scrn2 G C 11: 96,924,326 (GRCm39) probably null Het
Slc22a12 C A 19: 6,587,791 (GRCm39) V388L probably benign Het
Slc4a11 A G 2: 130,526,866 (GRCm39) V754A probably damaging Het
Slco2b1 A G 7: 99,335,195 (GRCm39) F195S probably damaging Het
Slfn9 A C 11: 82,872,216 (GRCm39) M840R possibly damaging Het
Speer4b T C 5: 27,706,263 (GRCm39) N35D probably damaging Het
Taf1d T A 9: 15,221,250 (GRCm39) D185E probably damaging Het
Taok2 A G 7: 126,475,213 (GRCm39) L245P probably damaging Het
Tent4a A T 13: 69,651,019 (GRCm39) probably null Het
Ticam2 T C 18: 46,693,846 (GRCm39) I80M probably damaging Het
Tmem268 G A 4: 63,502,164 (GRCm39) V331I probably benign Het
Tsga10 T C 1: 37,840,931 (GRCm39) E425G probably damaging Het
Ttc7 A G 17: 87,654,133 (GRCm39) probably null Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Unc13a T C 8: 72,107,489 (GRCm39) H601R probably damaging Het
Vmn2r102 A T 17: 19,880,661 (GRCm39) M1L probably benign Het
Vmn2r120 G T 17: 57,816,125 (GRCm39) N743K probably damaging Het
Wnt6 C A 1: 74,823,295 (GRCm39) probably null Het
Wnt6 A C 1: 74,823,296 (GRCm39) probably null Het
Wnt8a T A 18: 34,680,525 (GRCm39) C297S probably damaging Het
Zfp786 T C 6: 47,797,087 (GRCm39) Q617R probably benign Het
Zfp91 A G 19: 12,753,774 (GRCm39) probably null Het
Zw10 T A 9: 48,979,983 (GRCm39) F371L probably damaging 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
IGL02825:Olfm1 APN 2 28,119,090 (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
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
Predicted Primers PCR Primer
(F):5'- ACCTTGCAGGCAATAAAAGC -3'
(R):5'- AGGTTCAGTGAGGTCTGGAAC -3'

Sequencing Primer
(F):5'- CGAAAATGGATGAACTTAGGCCTTTG -3'
(R):5'- GCTTGCACATGGGCGATG -3'
Posted On 2016-04-15