Incidental Mutation 'R0266:Olfm1'
ID 34899
Institutional Source Beutler Lab
Gene Symbol Olfm1
Ensembl Gene ENSMUSG00000026833
Gene Name olfactomedin 1
Synonyms Noelin 1, Pancortin 1-4, Noelin 2
MMRRC Submission 038492-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0266 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 28083105-28120748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28119619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 403 (Y403C)
Ref Sequence ENSEMBL: ENSMUSP00000109553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028177] [ENSMUST00000100244] [ENSMUST00000113920]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028177
AA Change: Y446C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: Y446C

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: Y418C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: Y418C

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 damaging
Transcript: ENSMUST00000113920
AA Change: Y403C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: Y403C

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
Meta Mutation Damage Score 0.9693 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.8%
Validation Efficiency 100% (79/79)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A G 12: 110,635,188 (GRCm39) S117P possibly damaging Het
Aars2 T C 17: 45,818,436 (GRCm39) probably benign Het
Acot11 T C 4: 106,607,185 (GRCm39) D466G probably damaging Het
Adgrd1 G A 5: 129,216,658 (GRCm39) A342T probably benign Het
Apbb2 A T 5: 66,459,954 (GRCm39) N714K probably benign Het
Aqp12 C A 1: 92,934,572 (GRCm39) H150N possibly damaging Het
Brinp3 T A 1: 146,558,418 (GRCm39) L114* probably null Het
Ccng2 T C 5: 93,419,148 (GRCm39) probably benign Het
Cd36 T A 5: 18,003,250 (GRCm39) R265S probably benign Het
Ces4a T C 8: 105,868,598 (GRCm39) L104S probably benign Het
Clca4b T C 3: 144,628,547 (GRCm39) I387V probably damaging Het
Cul7 T A 17: 46,965,521 (GRCm39) H566Q probably benign Het
Ddx60 A T 8: 62,486,527 (GRCm39) H1646L possibly damaging Het
Dntt T C 19: 41,047,566 (GRCm39) I503T probably damaging Het
Dynlt1a T G 17: 6,367,670 (GRCm39) E2D probably benign Het
Efemp2 G T 19: 5,528,027 (GRCm39) C78F probably damaging Het
Esco1 T C 18: 10,594,605 (GRCm39) E227G probably benign Het
Fezf2 T A 14: 12,342,607 (GRCm38) K419N probably damaging Het
Gm17541 A T 12: 4,739,487 (GRCm39) probably benign Het
Gm2381 G A 7: 42,469,372 (GRCm39) Q251* probably null Het
Gm4782 T G 6: 50,587,674 (GRCm39) S686R probably damaging Het
Grin3a G A 4: 49,665,501 (GRCm39) R1045* probably null Het
Grm8 T C 6: 27,285,895 (GRCm39) Y839C probably damaging Het
Gtf3c1 G A 7: 125,243,306 (GRCm39) P1766L possibly damaging Het
Herc2 T A 7: 55,856,326 (GRCm39) H3921Q probably damaging Het
Hes6 A T 1: 91,340,026 (GRCm39) D143E possibly damaging Het
Hmcn2 A G 2: 31,284,839 (GRCm39) E2055G probably benign Het
Hmcn2 G A 2: 31,335,365 (GRCm39) probably benign Het
Ikzf3 A G 11: 98,358,143 (GRCm39) L398P probably benign Het
Il10ra A T 9: 45,176,950 (GRCm39) I125N probably benign Het
Kcnb2 G A 1: 15,783,137 (GRCm39) probably benign Het
Krt77 T C 15: 101,777,813 (GRCm39) R81G possibly damaging Het
Lrrc40 T A 3: 157,747,298 (GRCm39) probably null Het
Man1a2 C T 3: 100,489,350 (GRCm39) R543Q probably damaging Het
Mansc1 T C 6: 134,587,670 (GRCm39) D169G probably benign Het
Mdn1 T A 4: 32,741,835 (GRCm39) S3869T probably damaging Het
Mettl14 A T 3: 123,176,475 (GRCm39) S58T probably benign Het
Mrpl4 T C 9: 20,914,610 (GRCm39) V62A probably benign Het
Myh3 A G 11: 66,984,498 (GRCm39) D1085G possibly damaging Het
Myo5c C A 9: 75,191,498 (GRCm39) probably benign Het
Naalad2 G T 9: 18,262,239 (GRCm39) probably benign Het
Nat3 A G 8: 68,000,432 (GRCm39) T104A probably benign Het
Nek4 A G 14: 30,679,253 (GRCm39) E198G probably damaging Het
Or5w11 C A 2: 87,459,626 (GRCm39) T273K possibly damaging Het
Or7e177 A T 9: 20,212,454 (GRCm39) R320S probably benign Het
Osbpl1a T A 18: 13,004,220 (GRCm39) probably null Het
Pax7 G A 4: 139,507,047 (GRCm39) S330L possibly damaging Het
Pcdhb15 C A 18: 37,608,329 (GRCm39) D520E probably damaging Het
Pgm3 T C 9: 86,449,586 (GRCm39) T145A probably benign Het
Phox2b G A 5: 67,253,968 (GRCm39) probably null Het
Pik3r6 A T 11: 68,417,234 (GRCm39) R59* probably null Het
Pold1 A G 7: 44,190,449 (GRCm39) probably benign Het
Ppp1r21 T C 17: 88,876,500 (GRCm39) probably benign Het
Prl5a1 A G 13: 28,333,970 (GRCm39) K158E possibly damaging Het
Rag2 T G 2: 101,460,948 (GRCm39) C419W probably damaging Het
Reln A G 5: 22,193,774 (GRCm39) S1395P probably damaging Het
Retnlb T G 16: 48,639,022 (GRCm39) Y74* probably null Het
Robo3 A G 9: 37,333,936 (GRCm39) S633P probably damaging Het
Ryr1 A G 7: 28,740,104 (GRCm39) S3941P probably damaging Het
Scnn1b A G 7: 121,511,698 (GRCm39) N370S probably damaging Het
Slc6a5 C A 7: 49,588,156 (GRCm39) probably benign Het
Sort1 T A 3: 108,252,247 (GRCm39) N481K probably benign Het
Sptlc3 T A 2: 139,437,957 (GRCm39) I417K possibly damaging Het
Svil T A 18: 5,099,063 (GRCm39) probably benign Het
Taf4b T C 18: 14,946,134 (GRCm39) probably benign Het
Tchp T C 5: 114,847,394 (GRCm39) M71T possibly damaging Het
Thsd4 T A 9: 59,904,417 (GRCm39) H233L probably benign Het
Tmem217 G T 17: 29,745,573 (GRCm39) N52K possibly damaging Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Uqcrfs1 A C 13: 30,725,146 (GRCm39) N131K probably benign Het
Vars1 T A 17: 35,232,845 (GRCm39) S896R probably benign Het
Vmn1r170 A T 7: 23,305,906 (GRCm39) M103L probably benign Het
Vmn2r22 T C 6: 123,614,363 (GRCm39) Y409C probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Wdr49 A T 3: 75,359,103 (GRCm39) I8N possibly damaging Het
Zfp648 T A 1: 154,080,632 (GRCm39) Y264N probably damaging Het
Zmym1 A C 4: 126,941,818 (GRCm39) F857V possibly 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
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
Predicted Primers PCR Primer
(F):5'- GCAGGCAACATTGTCATCAGCAAG -3'
(R):5'- CATCTCTCGGCGTCAAAATTGCG -3'

Sequencing Primer
(F):5'- AAGCTGGATCCTGTCTCACT -3'
(R):5'- GCGTCAAAATTGCGCTGATTTC -3'
Posted On 2013-05-09