Incidental Mutation 'R4990:Grem2'
ID 386098
Institutional Source Beutler Lab
Gene Symbol Grem2
Ensembl Gene ENSMUSG00000050069
Gene Name gremlin 2, DAN family BMP antagonist
Synonyms Prdc
MMRRC Submission 042584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R4990 (G1)
Quality Score 225
Status Not 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: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,334,098 (GRCm39) I1135V possibly damaging Het
Abca14 G A 7: 119,911,388 (GRCm39) R1324K probably benign Het
Amer3 A C 1: 34,627,822 (GRCm39) D687A probably benign Het
Aplnr G A 2: 84,967,721 (GRCm39) V249M probably damaging Het
Atg16l1 A G 1: 87,717,091 (GRCm39) K471R probably benign Het
Cacna1b A G 2: 24,568,886 (GRCm39) probably null Het
Catspere2 A C 1: 177,925,987 (GRCm39) I218L probably benign Het
Ccdc152 A G 15: 3,330,639 (GRCm39) I12T probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Cenpe T A 3: 134,962,401 (GRCm39) L1989Q probably damaging Het
Cep295 T C 9: 15,243,434 (GRCm39) Q1674R probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dock2 T C 11: 34,586,078 (GRCm39) M535V probably damaging Het
Dscam A G 16: 96,626,715 (GRCm39) V398A probably benign Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Fbxw18 T C 9: 109,517,461 (GRCm39) E414G probably damaging Het
Hnrnpr G A 4: 136,063,609 (GRCm39) V239I probably damaging Het
Hnrnpr A G 4: 136,056,690 (GRCm39) E230G probably damaging Het
Ipo11 A T 13: 106,997,395 (GRCm39) I688K probably benign Het
Irx4 G T 13: 73,413,626 (GRCm39) R32L probably benign Het
Kcnh7 T C 2: 62,564,632 (GRCm39) N876D probably benign Het
Klk1b26 T A 7: 43,665,673 (GRCm39) probably null Het
Lrp2 G T 2: 69,311,732 (GRCm39) T2582K probably benign Het
Lrriq1 A G 10: 103,036,420 (GRCm39) I911T probably damaging Het
Megf6 A G 4: 154,351,683 (GRCm39) E1132G possibly damaging Het
Mesp1 A G 7: 79,442,669 (GRCm39) Y203H probably damaging Het
Ms4a4a T C 19: 11,356,201 (GRCm39) S29P probably benign Het
Nbeal2 A C 9: 110,463,871 (GRCm39) C1174G probably benign Het
Neb C T 2: 52,145,558 (GRCm39) V2989I probably benign Het
Nkx2-1 T C 12: 56,581,724 (GRCm39) Y41C possibly damaging Het
Nrxn3 T A 12: 89,227,244 (GRCm39) I293N probably damaging Het
Nt5e A G 9: 88,237,646 (GRCm39) N192S probably benign Het
Ntng1 A T 3: 110,042,577 (GRCm39) probably null Het
Or13a17 G A 7: 140,271,360 (GRCm39) E181K probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Or4c110 A T 2: 88,831,816 (GRCm39) I272K probably damaging Het
Or4c15b A T 2: 89,113,671 (GRCm39) probably null Het
Panx1 A G 9: 14,921,513 (GRCm39) Y121H probably damaging Het
Pcsk4 A G 10: 80,161,215 (GRCm39) I233T possibly damaging Het
Pgm3 T A 9: 86,440,465 (GRCm39) I409F probably damaging Het
Plg T C 17: 12,630,397 (GRCm39) Y645H probably benign Het
Pon3 T C 6: 5,221,619 (GRCm39) H337R probably benign Het
Rasa2 A G 9: 96,474,042 (GRCm39) I162T probably benign Het
Ror1 A G 4: 100,299,161 (GRCm39) I845V probably benign Het
Rpl4 T C 9: 64,082,167 (GRCm39) V22A probably benign Het
Ryr3 T C 2: 112,740,318 (GRCm39) N531S probably damaging Het
Ryr3 G T 2: 112,466,122 (GRCm39) Q4746K probably damaging Het
Sbno1 A T 5: 124,538,228 (GRCm39) F571I probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Sec22b T G 3: 97,828,427 (GRCm39) probably null Het
Slc45a2 A G 15: 11,001,236 (GRCm39) M112V probably benign Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Speer1e A T 5: 11,236,381 (GRCm39) E138V probably 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
Trappc11 A T 8: 47,943,930 (GRCm39) D1127E probably benign Het
Triobp C A 15: 78,851,205 (GRCm39) A453D probably benign Het
Tubd1 T C 11: 86,448,665 (GRCm39) L295P probably damaging Het
Ulk4 C T 9: 121,021,852 (GRCm39) V620I probably benign Het
Vmn2r39 A G 7: 9,026,675 (GRCm39) I442T probably benign Het
Wwc1 T C 11: 35,767,393 (GRCm39) T413A probably benign Het
Zfp131 A C 13: 120,244,449 (GRCm39) V77G probably damaging Het
Zfyve26 T C 12: 79,334,607 (GRCm39) D137G probably damaging Het
Other mutations in Grem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
shrimp UTSW 1 174,664,379 (GRCm39) missense probably damaging 1.00
R4991: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'- AGACACAAGTGTAGCCTGGG -3'
(R):5'- GCCAGTGCAACTCCTTCTAC -3'

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