Incidental Mutation 'R7850:Grem1'
ID 606869
Institutional Source Beutler Lab
Gene Symbol Grem1
Ensembl Gene ENSMUSG00000074934
Gene Name gremlin 1, DAN family BMP antagonist
Synonyms Grem, Cktsf1b1, gremlin, Drm
MMRRC Submission 045903-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7850 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 113579020-113588993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113580178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 108 (C108R)
Ref Sequence ENSEMBL: ENSMUSP00000097170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099575]
AlphaFold O70326
Predicted Effect probably damaging
Transcript: ENSMUST00000099575
AA Change: C108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097170
Gene: ENSMUSG00000074934
AA Change: C108R

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 49 66 N/A INTRINSIC
CT 96 183 2.36e-30 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (43/43)
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. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice display neonatal lethality with bilateral agenesis of the kidneys and ureters, oligodactyly, limb skeletal malformations, cyanosis, dyspnea, and abnormal lung morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik A T 16: 97,869,328 (GRCm39) D2E probably damaging Het
Abhd16b G A 2: 181,135,518 (GRCm39) R140H not run Het
Acad11 G T 9: 103,991,728 (GRCm39) G588C probably damaging Het
Baz2b C A 2: 59,767,060 (GRCm39) E107D probably damaging Het
Bcas1 A G 2: 170,190,023 (GRCm39) S625P probably damaging Het
Bdp1 T A 13: 100,228,832 (GRCm39) L265F probably damaging Het
Cacna1s A G 1: 135,998,786 (GRCm39) Y227C probably damaging Het
Cacna2d2 G A 9: 107,402,575 (GRCm39) A848T probably benign Het
Cep135 T C 5: 76,739,720 (GRCm39) probably null Het
Cyp2b9 G T 7: 25,886,111 (GRCm39) E93* probably null Het
Dcp2 C A 18: 44,533,415 (GRCm39) S122* probably null Het
Ecel1 A G 1: 87,079,745 (GRCm39) L456P probably damaging Het
Entpd8 T C 2: 24,975,028 (GRCm39) M453T probably damaging Het
Gcc2 T A 10: 58,114,703 (GRCm39) V1084D probably damaging Het
Gtf2ird1 T C 5: 134,392,069 (GRCm39) E880G probably benign Het
Hacd2 T A 16: 34,922,477 (GRCm39) M222K probably damaging Het
Htr1b G T 9: 81,514,652 (GRCm39) probably null Het
Htt T G 5: 35,009,631 (GRCm39) probably null Het
Ifnab T G 4: 88,609,133 (GRCm39) D111A probably benign Het
Igsf10 A T 3: 59,227,053 (GRCm39) L2207I probably benign Het
Itln1 T C 1: 171,358,166 (GRCm39) Y194C probably damaging Het
Kmt5b T A 19: 3,865,043 (GRCm39) D702E probably damaging Het
Knop1 T C 7: 118,449,860 (GRCm39) E382G unknown Het
Lrit3 A C 3: 129,594,452 (GRCm39) L42V probably damaging Het
Mug2 A G 6: 122,052,170 (GRCm39) E976G probably damaging Het
Or5an10 T C 19: 12,275,996 (GRCm39) M167V probably benign Het
Or8g28 A T 9: 39,169,518 (GRCm39) I150N possibly damaging Het
Or8s8 G A 15: 98,354,949 (GRCm39) G253R probably damaging Het
Papln A T 12: 83,827,436 (GRCm39) E758V probably damaging Het
Pcnx3 A C 19: 5,728,960 (GRCm39) F967V possibly damaging Het
Pcnx4 G T 12: 72,602,842 (GRCm39) C368F probably benign Het
Pi15 T A 1: 17,673,105 (GRCm39) Y101* probably null Het
Ppp1r9a G A 6: 4,905,894 (GRCm39) V150M possibly damaging Het
Prrt4 A T 6: 29,176,900 (GRCm39) probably null Het
Ptgdr A G 14: 45,090,828 (GRCm39) V310A probably benign Het
Ric1 G A 19: 29,572,293 (GRCm39) S696N probably benign Het
Setx T A 2: 29,037,430 (GRCm39) V1305D probably damaging Het
Slk G A 19: 47,610,796 (GRCm39) R822H probably damaging Het
Tas2r135 T A 6: 42,383,072 (GRCm39) F204I probably benign Het
Tcaf3 A T 6: 42,571,140 (GRCm39) probably null Het
Tmtc2 A G 10: 105,409,568 (GRCm39) Y15H probably benign Het
Treml2 T C 17: 48,615,168 (GRCm39) S218P probably benign Het
Tubb2a T C 13: 34,258,554 (GRCm39) E412G probably damaging Het
Usp48 T G 4: 137,333,060 (GRCm39) probably null Het
Vmn2r25 A T 6: 123,805,431 (GRCm39) N475K probably damaging Het
Zscan4-ps1 G A 7: 10,799,735 (GRCm39) H385Y probably benign Het
Other mutations in Grem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Grem1 APN 2 113,580,132 (GRCm39) missense probably damaging 0.99
R0789:Grem1 UTSW 2 113,580,056 (GRCm39) missense probably benign 0.05
R1771:Grem1 UTSW 2 113,580,021 (GRCm39) missense probably benign 0.00
R4065:Grem1 UTSW 2 113,580,033 (GRCm39) missense probably damaging 1.00
R6689:Grem1 UTSW 2 113,580,276 (GRCm39) missense probably benign 0.01
Z1177:Grem1 UTSW 2 113,579,994 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- TCGATGGATATGCAACGGC -3'
(R):5'- ATGACTCTGAGCAGACCCAG -3'

Sequencing Primer
(F):5'- AACGGCACTGCTTCACG -3'
(R):5'- TGAGCAGACCCAGTCCCC -3'
Posted On 2019-12-20