Incidental Mutation 'R4065:Grem1'
ID 316043
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 040972-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4065 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 113579020-113588993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113580033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 156 (L156P)
Ref Sequence ENSEMBL: ENSMUSP00000097170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099575]
AlphaFold O70326
Predicted Effect probably damaging
Transcript: ENSMUST00000099575
AA Change: L156P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097170
Gene: ENSMUSG00000074934
AA Change: L156P

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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. 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 89,966,073 (GRCm39) R178* probably null Het
Abcc9 T C 6: 142,591,616 (GRCm39) E769G probably damaging Het
Adcy9 C A 16: 4,106,298 (GRCm39) V939F probably damaging Het
Atg2a T C 19: 6,308,396 (GRCm39) F1643S probably damaging Het
B430305J03Rik A G 3: 61,271,646 (GRCm39) probably benign Het
C2cd5 A G 6: 143,019,397 (GRCm39) I306T probably benign Het
Camk1d A T 2: 5,570,584 (GRCm39) F26I probably damaging Het
Cant1 G T 11: 118,298,823 (GRCm39) D313E probably benign Het
Dhx29 T A 13: 113,101,276 (GRCm39) probably null Het
Dnah12 A G 14: 26,492,405 (GRCm39) I1182V probably benign Het
Dnajc21 A G 15: 10,451,639 (GRCm39) probably null Het
Dnajc7 T C 11: 100,492,607 (GRCm39) Y38C probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Dync2i2 A G 2: 29,922,820 (GRCm39) L309P probably benign Het
Fat4 A T 3: 39,063,346 (GRCm39) H4434L probably benign Het
Fbxo16 T A 14: 65,508,278 (GRCm39) N31K probably damaging Het
Foxj3 T C 4: 119,467,206 (GRCm39) I183T probably benign Het
Fras1 T A 5: 96,918,542 (GRCm39) I3526K possibly damaging Het
Fshr T C 17: 89,293,394 (GRCm39) Y428C probably damaging Het
Gm11437 A G 11: 84,055,337 (GRCm39) V93A probably benign Het
Gm12258 C T 11: 58,749,352 (GRCm39) L176F probably benign Het
Hecw1 T C 13: 14,491,016 (GRCm39) S659G probably damaging Het
Lamc3 C A 2: 31,835,270 (GRCm39) H1530Q probably benign Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mga T C 2: 119,777,483 (GRCm39) V1846A probably damaging Het
Mthfd1l A G 10: 3,982,242 (GRCm39) H483R probably damaging Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Mvp A G 7: 126,595,489 (GRCm39) V207A probably damaging Het
Nsun2 T C 13: 69,760,579 (GRCm39) probably null Het
Or13a26 T C 7: 140,284,182 (GRCm39) L6P probably benign Het
Or8g55 T C 9: 39,784,718 (GRCm39) I49T possibly damaging Het
Pcnx4 T C 12: 72,603,134 (GRCm39) probably null Het
Plxna4 T A 6: 32,213,300 (GRCm39) K637* probably null Het
Ppm1d A G 11: 85,236,678 (GRCm39) T486A probably benign Het
Prb1a T A 6: 132,184,658 (GRCm39) Q325L unknown Het
Sf3a1 T A 11: 4,117,824 (GRCm39) F195L probably damaging Het
Spcs2 A G 7: 99,494,012 (GRCm39) I164T possibly damaging Het
Ssbp4 T C 8: 71,052,210 (GRCm39) T77A possibly damaging Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uhrf1 T A 17: 56,625,020 (GRCm39) I521N probably damaging Het
Uros A G 7: 133,304,057 (GRCm39) probably null Het
Usp47 A G 7: 111,652,623 (GRCm39) D100G probably benign Het
Utp6 T C 11: 79,837,073 (GRCm39) R337G probably damaging Het
Vcan T C 13: 89,828,006 (GRCm39) T3147A probably damaging Het
Wdfy3 C T 5: 102,070,313 (GRCm39) V1152I probably benign Het
Zfp654 G A 16: 64,606,288 (GRCm39) T638M possibly damaging 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
R6689:Grem1 UTSW 2 113,580,276 (GRCm39) missense probably benign 0.01
R7850:Grem1 UTSW 2 113,580,178 (GRCm39) missense probably damaging 1.00
Z1177:Grem1 UTSW 2 113,579,994 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- AACTGCTGGTTCTTCTGGCC -3'
(R):5'- GTATCTGAAGCGAGATTGGTGC -3'

Sequencing Primer
(F):5'- CTGGCCTCTAGGTTTAAGCCAAG -3'
(R):5'- GATTGGTGCAAAACTCAGCC -3'
Posted On 2015-05-15