Incidental Mutation 'R4991:Grem2'
ID 386173
Institutional Source Beutler Lab
Gene Symbol Grem2
Ensembl Gene ENSMUSG00000050069
Gene Name gremlin 2, DAN family BMP antagonist
Synonyms Prdc
MMRRC Submission 042585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R4991 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 174661351-174749385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 174664379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 157 (C157R)
Ref Sequence ENSEMBL: ENSMUSP00000049640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055294]
AlphaFold O88273
PDB Structure Crystal structure of Protein Related to DAN and Cerberus (PRDC) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000055294
AA Change: C157R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049640
Gene: ENSMUSG00000050069
AA Change: C157R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CT 75 163 7.16e-21 SMART
Meta Mutation Damage Score 0.9505 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.0%
Validation Efficiency 95% (73/77)
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 BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show small and malformed mandibular and maxillary incisors and slightly increased bone mineral density but appear otherwise normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G T 14: 56,010,922 (GRCm39) T665K probably benign Het
Adgrf3 C T 5: 30,404,146 (GRCm39) V369M probably benign Het
Als2 T C 1: 59,246,927 (GRCm39) K571E probably benign Het
Amer3 A C 1: 34,627,822 (GRCm39) D687A probably benign Het
Asb14 T C 14: 26,637,015 (GRCm39) S586P probably damaging Het
Catspere2 A C 1: 177,925,987 (GRCm39) I218L probably benign Het
Chmp4b A G 2: 154,534,545 (GRCm39) E187G probably benign Het
Cox6b2 T C 7: 4,755,160 (GRCm39) D38G probably damaging Het
Cpm G A 10: 117,504,008 (GRCm39) C138Y probably damaging Het
Csmd3 G T 15: 47,864,874 (GRCm39) P785Q probably damaging Het
Cstf1 A G 2: 172,219,720 (GRCm39) Y277C probably damaging Het
Cstf2t T A 19: 31,061,983 (GRCm39) N506K probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Ebf2 A T 14: 67,627,106 (GRCm39) T265S possibly damaging Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Gm19684 A G 17: 36,438,364 (GRCm39) probably benign Het
Gm29106 T C 1: 118,106,121 (GRCm39) M37T probably benign Het
Hdac5 T A 11: 102,096,450 (GRCm39) E252D probably damaging Het
Ifitm3 A T 7: 140,590,372 (GRCm39) F63I probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Irx4 G T 13: 73,413,626 (GRCm39) R32L probably benign Het
Itgb1bp1 C T 12: 21,324,849 (GRCm39) G69D probably damaging Het
Kcnh3 A G 15: 99,130,637 (GRCm39) D418G probably benign Het
Kif1a T C 1: 93,006,530 (GRCm39) T46A probably benign Het
Klk1b26 T A 7: 43,665,673 (GRCm39) probably null Het
Lca5l T C 16: 95,960,932 (GRCm39) E510G possibly damaging Het
Lrriq1 A G 10: 103,036,420 (GRCm39) I911T probably damaging Het
Mios T G 6: 8,215,847 (GRCm39) S348A probably benign Het
Mog T C 17: 37,328,381 (GRCm39) probably null Het
Mtmr7 A G 8: 41,007,386 (GRCm39) S516P probably damaging Het
Nat8f4 T C 6: 85,878,122 (GRCm39) K134E probably benign Het
Nbeal2 C T 9: 110,467,835 (GRCm39) C451Y probably damaging Het
Nkx2-1 T C 12: 56,581,724 (GRCm39) Y41C possibly damaging Het
Nmnat1 G A 4: 149,553,584 (GRCm39) T176M possibly damaging Het
Nrxn3 T A 12: 89,227,244 (GRCm39) I293N probably damaging Het
Or5af2 T C 11: 58,708,544 (GRCm39) S237P probably damaging Het
Or5b97 T G 19: 12,878,815 (GRCm39) T110P probably damaging Het
Or5m8 A G 2: 85,822,631 (GRCm39) M157V probably damaging Het
Osgin1 A G 8: 120,172,028 (GRCm39) E274G probably damaging Het
Otof G A 5: 30,551,525 (GRCm39) R343W probably damaging Het
Pcdha9 A T 18: 37,131,398 (GRCm39) I156F probably damaging Het
Pcsk4 A G 10: 80,161,215 (GRCm39) I233T possibly damaging Het
Pira12 T G 7: 3,898,571 (GRCm39) Q292H probably benign Het
Samd4 A T 14: 47,311,467 (GRCm39) S262C probably damaging Het
Snap91 T C 9: 86,672,207 (GRCm39) probably null Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
St3gal4 A G 9: 34,964,432 (GRCm39) V190A possibly damaging Het
Sv2b T C 7: 74,767,470 (GRCm39) N642S possibly damaging Het
Svil T A 18: 5,056,810 (GRCm39) I561K probably benign Het
Tmem201 A T 4: 149,812,612 (GRCm39) Y235N possibly damaging Het
Tpx2 T C 2: 152,711,644 (GRCm39) S60P probably benign Het
Trpa1 T C 1: 14,980,970 (GRCm39) Y144C probably benign Het
U90926 G A 5: 92,357,879 (GRCm39) P91S probably benign Het
Utp20 G T 10: 88,582,796 (GRCm39) H2780Q probably benign Het
Vmn1r215 T G 13: 23,260,697 (GRCm39) F246V probably damaging Het
Vmn2r72 A G 7: 85,400,338 (GRCm39) L237S probably damaging Het
Washc5 A G 15: 59,215,929 (GRCm39) S817P probably damaging Het
Zbtb24 A G 10: 41,332,614 (GRCm39) probably null Het
Zfp212 G A 6: 47,903,796 (GRCm39) R127H probably damaging Het
Zfp268 C A 4: 145,348,904 (GRCm39) Q114K probably benign Het
Zfp740 G T 15: 102,116,714 (GRCm39) probably null Het
Other mutations in Grem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
shrimp UTSW 1 174,664,379 (GRCm39) missense probably damaging 1.00
R4990:Grem2 UTSW 1 174,664,379 (GRCm39) missense probably damaging 1.00
R6466:Grem2 UTSW 1 174,664,450 (GRCm39) missense probably damaging 1.00
R7094:Grem2 UTSW 1 174,664,555 (GRCm39) missense probably damaging 1.00
R7361:Grem2 UTSW 1 174,664,514 (GRCm39) missense probably benign 0.13
R7488:Grem2 UTSW 1 174,664,685 (GRCm39) missense probably damaging 0.99
R7711:Grem2 UTSW 1 174,664,693 (GRCm39) missense probably damaging 0.98
R7910:Grem2 UTSW 1 174,664,813 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGTTGGCCCTAAGAGACAC -3'
(R):5'- CTCAAGAGTGACTGGTGCAAG -3'

Sequencing Primer
(F):5'- GAGACACATTTGCTGCTGAC -3'
(R):5'- TTCTGCTACGGCCAGTGC -3'
Posted On 2016-05-10