Incidental Mutation 'R7057:Runx2'
ID 548012
Institutional Source Beutler Lab
Gene Symbol Runx2
Ensembl Gene ENSMUSG00000039153
Gene Name runt related transcription factor 2
Synonyms PEBP2aA, Cbfa1, Osf2, Pebpa2a, AML3, PEBP2 alpha A, SL3-3 enhancer factor 1, polyomavirus enhancer binding factor 2 (PEBP2)
MMRRC Submission 045154-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7057 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 44806873-45125518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45125424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 31 (W31R)
Ref Sequence ENSEMBL: ENSMUSP00000123743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050630] [ENSMUST00000113568] [ENSMUST00000113571] [ENSMUST00000127798] [ENSMUST00000129416] [ENSMUST00000159943] [ENSMUST00000160673] [ENSMUST00000162629]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050630
SMART Domains Protein: ENSMUSP00000050783
Gene: ENSMUSG00000038954

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:TFIID-18kDa 24 116 4.5e-38 PFAM
low complexity region 274 294 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113568
AA Change: W31R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably null
Transcript: ENSMUST00000113571
SMART Domains Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
coiled coil region 45 89 N/A INTRINSIC
Pfam:Runt 106 240 9.2e-83 PFAM
Pfam:RunxI 434 528 7.6e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127798
SMART Domains Protein: ENSMUSP00000121148
Gene: ENSMUSG00000038954

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:TFIID-18kDa 24 116 9.3e-39 PFAM
low complexity region 274 294 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129416
SMART Domains Protein: ENSMUSP00000120197
Gene: ENSMUSG00000038954

DomainStartEndE-ValueType
Pfam:TFIID-18kDa 17 109 1e-38 PFAM
low complexity region 267 287 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159943
SMART Domains Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
coiled coil region 45 89 N/A INTRINSIC
Pfam:Runt 106 240 9.2e-83 PFAM
Pfam:RunxI 434 528 7.6e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160673
AA Change: W31R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: W31R

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
coiled coil region 113 157 N/A INTRINSIC
Pfam:Runt 177 306 3.9e-75 PFAM
Pfam:RunxI 505 596 3.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160672
Predicted Effect probably benign
Transcript: ENSMUST00000162629
SMART Domains Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
coiled coil region 45 89 N/A INTRINSIC
Pfam:Runt 106 240 3.5e-83 PFAM
Pfam:RunxI 412 506 2.7e-45 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the runt domain-containing family of transcription factors. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, decreased body weight, abnormal hematopoiesis, and skeletal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,945,181 (GRCm39) V220D probably benign Het
Ankrd1 T C 19: 36,095,633 (GRCm39) E113G possibly damaging Het
Aqp12 T C 1: 92,939,718 (GRCm39) L249P probably damaging Het
Atg4a-ps A G 3: 103,553,296 (GRCm39) F15S possibly damaging Het
Bub1 T A 2: 127,671,447 (GRCm39) M46L probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C2cd4d A G 3: 94,270,800 (GRCm39) H22R probably benign Het
Ccdc157 A G 11: 4,094,586 (GRCm39) V480A probably benign Het
Cdc42ep3 G A 17: 79,642,952 (GRCm39) probably benign Het
Cela1 T A 15: 100,580,774 (GRCm39) T161S possibly damaging Het
Chtf18 G T 17: 25,940,100 (GRCm39) A697E possibly damaging Het
Cr2 T C 1: 194,833,918 (GRCm39) D957G possibly damaging Het
Cyp2c40 A G 19: 39,796,063 (GRCm39) V60A probably damaging Het
Dazl CCATGATGGCGGC CC 17: 50,600,434 (GRCm39) probably null Het
Dock2 A T 11: 34,177,684 (GRCm39) L1824Q probably benign Het
Dock2 T C 11: 34,586,044 (GRCm39) Y546C probably benign Het
Focad G A 4: 88,192,342 (GRCm39) C557Y unknown Het
Ftmt T A 18: 52,465,180 (GRCm39) N165K probably benign Het
Gen1 A C 12: 11,292,419 (GRCm39) S457A probably benign Het
Gja1 T G 10: 56,264,129 (GRCm39) S163A probably benign Het
Gm8267 T C 14: 44,959,481 (GRCm39) I194M probably damaging Het
Golga3 T A 5: 110,336,529 (GRCm39) S389R probably damaging Het
Gpc5 C A 14: 115,370,654 (GRCm39) Q87K possibly damaging Het
Hmcn2 G A 2: 31,312,661 (GRCm39) A3420T probably damaging Het
Htt A G 5: 34,979,067 (GRCm39) S817G probably null Het
Hus1b C T 13: 31,131,533 (GRCm39) C42Y possibly damaging Het
Iars2 A G 1: 185,021,564 (GRCm39) F913L probably benign Het
Kcna4 A G 2: 107,125,665 (GRCm39) E133G probably damaging Het
Klhl36 T C 8: 120,603,536 (GRCm39) L597P probably benign Het
Ltv1 T C 10: 13,056,646 (GRCm39) E299G possibly damaging Het
Mmp12 A G 9: 7,357,840 (GRCm39) Y348C probably damaging Het
Mmp12 G A 9: 7,369,173 (GRCm39) V270I probably benign Het
Mmp2 A G 8: 93,558,333 (GRCm39) D134G probably damaging Het
Mrpl15 A T 1: 4,846,865 (GRCm39) M237K probably benign Het
Ms4a6b G T 19: 11,504,253 (GRCm39) V177F possibly damaging Het
Muc16 A G 9: 18,557,375 (GRCm39) S2973P unknown Het
Or1e30 A C 11: 73,677,974 (GRCm39) D70A possibly damaging Het
Or4c114 A C 2: 88,904,808 (GRCm39) I209S possibly damaging Het
Or5b120 G T 19: 13,480,243 (GRCm39) D179Y probably damaging Het
Or5b12b A T 19: 12,862,006 (GRCm39) I254F probably damaging Het
Or8b48 A T 9: 38,493,050 (GRCm39) H159L probably damaging Het
Pikfyve T A 1: 65,286,364 (GRCm39) I1201K probably benign Het
Plekhn1 T G 4: 156,318,374 (GRCm39) M83L probably damaging Het
Pnlip G T 19: 58,664,695 (GRCm39) D212Y probably damaging Het
Pomt2 T C 12: 87,174,152 (GRCm39) N417S probably damaging Het
Pxylp1 T A 9: 96,707,103 (GRCm39) M360L probably benign Het
Rbak G A 5: 143,159,682 (GRCm39) T457I possibly damaging Het
Sec16a T A 2: 26,315,277 (GRCm39) I1795F probably damaging Het
Sik2 A T 9: 50,909,861 (GRCm39) I64N probably damaging Het
Slc26a8 T C 17: 28,857,371 (GRCm39) E924G possibly damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Slc45a4 C A 15: 73,459,487 (GRCm39) D174Y probably damaging Het
Slc6a6 A C 6: 91,718,248 (GRCm39) E354A probably damaging Het
Slc8a1 A T 17: 81,956,524 (GRCm39) S171R probably damaging Het
Srgap1 T C 10: 121,640,858 (GRCm39) I669M probably benign Het
Stk39 C A 2: 68,240,471 (GRCm39) A87S possibly damaging Het
Tasor A T 14: 27,183,608 (GRCm39) N689I probably damaging Het
Tbx18 C A 9: 87,587,317 (GRCm39) S600I possibly damaging Het
Tesc A C 5: 118,193,025 (GRCm39) K114Q probably damaging Het
Tll1 T C 8: 64,554,915 (GRCm39) D256G probably damaging Het
Tmem35b T A 4: 127,021,679 (GRCm39) I45K probably benign Het
Tnks T C 8: 35,307,168 (GRCm39) D1127G probably damaging Het
Trpm8 A T 1: 88,289,802 (GRCm39) D920V probably null Het
U2af1 A T 17: 31,867,831 (GRCm39) D79E probably benign Het
Zfp704 T C 3: 9,535,977 (GRCm39) D331G probably damaging Het
Znrf3 G T 11: 5,232,442 (GRCm39) P261Q probably benign Het
Zscan4b A T 7: 10,635,636 (GRCm39) C202* probably null Het
Other mutations in Runx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:Runx2 APN 17 44,969,486 (GRCm39) missense probably damaging 1.00
IGL02029:Runx2 APN 17 44,969,574 (GRCm39) nonsense probably null
IGL02084:Runx2 APN 17 45,035,716 (GRCm39) missense probably damaging 1.00
R0040:Runx2 UTSW 17 44,919,141 (GRCm39) missense possibly damaging 0.58
R0627:Runx2 UTSW 17 44,969,392 (GRCm39) intron probably benign
R0944:Runx2 UTSW 17 44,919,123 (GRCm39) missense probably damaging 0.99
R1514:Runx2 UTSW 17 45,046,224 (GRCm39) missense possibly damaging 0.54
R2069:Runx2 UTSW 17 45,046,229 (GRCm39) missense probably benign 0.19
R3976:Runx2 UTSW 17 44,920,966 (GRCm39) missense possibly damaging 0.91
R4686:Runx2 UTSW 17 44,950,572 (GRCm39) missense probably damaging 1.00
R4911:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R5241:Runx2 UTSW 17 44,950,664 (GRCm39) nonsense probably null
R5526:Runx2 UTSW 17 45,035,749 (GRCm39) missense probably damaging 1.00
R6566:Runx2 UTSW 17 45,125,375 (GRCm39) critical splice donor site probably null
R6874:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R6875:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R6980:Runx2 UTSW 17 45,046,203 (GRCm39) missense possibly damaging 0.65
R7008:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7009:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7085:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7175:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7176:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7177:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7181:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7231:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7232:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7254:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7267:Runx2 UTSW 17 45,125,079 (GRCm39) missense probably damaging 1.00
R7835:Runx2 UTSW 17 44,919,123 (GRCm39) missense probably damaging 0.99
R7949:Runx2 UTSW 17 45,046,442 (GRCm39) missense possibly damaging 0.45
R8474:Runx2 UTSW 17 44,919,147 (GRCm39) missense probably damaging 1.00
R8806:Runx2 UTSW 17 44,950,570 (GRCm39) missense probably benign 0.09
R8913:Runx2 UTSW 17 44,919,169 (GRCm39) missense probably benign 0.09
R9092:Runx2 UTSW 17 45,046,443 (GRCm39) missense probably damaging 0.97
R9158:Runx2 UTSW 17 45,046,508 (GRCm39) missense probably benign 0.33
R9250:Runx2 UTSW 17 45,125,459 (GRCm39) missense probably benign 0.00
R9615:Runx2 UTSW 17 44,969,560 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAGTATGCCTGGAGTACATAGAC -3'
(R):5'- AGGCAGTCCCACTTTACTTTG -3'

Sequencing Primer
(F):5'- GCTGGTAACATGTGAAAAGC -3'
(R):5'- CCCACTTTACTTTGAGTACTGTGAGG -3'
Posted On 2019-05-13