Incidental Mutation 'R7267:Runx2'
ID 565034
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)
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7267 (G1)
Quality Score 221.999
Status Not validated
Chromosome 17
Chromosomal Location 44806873-45125518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45125079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 80 (P80L)
Ref Sequence ENSEMBL: ENSMUSP00000123743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050630] [ENSMUST00000113568] [ENSMUST00000113571] [ENSMUST00000127798] [ENSMUST00000129416] [ENSMUST00000162629] [ENSMUST00000160673] [ENSMUST00000159943]
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: P80L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000113571
AA Change: P12L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
AA Change: P12L

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 noncoding transcript
Transcript: ENSMUST00000130623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161489
Predicted Effect probably damaging
Transcript: ENSMUST00000162629
AA Change: P12L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
AA Change: P12L

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
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000160673
AA Change: P80L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: P80L

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 damaging
Transcript: ENSMUST00000159943
AA Change: P12L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
AA Change: P12L

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
Meta Mutation Damage Score 0.1963 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,916,205 (GRCm39) I37T probably damaging Het
Ackr2 A G 9: 121,737,874 (GRCm39) Y83C probably damaging Het
Adam19 C T 11: 46,012,403 (GRCm39) Q300* probably null Het
Anxa7 C T 14: 20,519,474 (GRCm39) A115T probably benign Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Atad2b A T 12: 5,077,105 (GRCm39) R1109* probably null Het
Batf2 A G 19: 6,221,396 (GRCm39) T69A probably benign Het
Best1 A G 19: 9,964,177 (GRCm39) C428R probably benign Het
Birc6 A G 17: 74,892,980 (GRCm39) T973A probably benign Het
Bmp2k C T 5: 97,216,293 (GRCm39) T597I unknown Het
Bmpr1a G A 14: 34,165,836 (GRCm39) P57L possibly damaging Het
Camk2d A T 3: 126,591,379 (GRCm39) H283L possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ces1b C A 8: 93,806,132 (GRCm39) K36N possibly damaging Het
Ces2a T A 8: 105,465,672 (GRCm39) M308K probably benign Het
Ctnnd2 C A 15: 30,683,501 (GRCm39) Q501K probably benign Het
Cyb561d1 T C 3: 108,106,629 (GRCm39) T197A probably benign Het
Dedd2 C A 7: 24,918,391 (GRCm39) A55S probably damaging Het
Dnah2 C T 11: 69,391,643 (GRCm39) R684Q probably damaging Het
Elovl3 A G 19: 46,122,979 (GRCm39) Y185C probably damaging Het
Fgf3 C T 7: 144,392,569 (GRCm39) A42V probably damaging Het
Gabra5 A G 7: 57,140,529 (GRCm39) L56P probably damaging Het
Gm19410 T G 8: 36,281,997 (GRCm39) V1860G possibly damaging Het
Gm21663 G T 5: 26,143,751 (GRCm39) N190K probably damaging Het
Grm3 T A 5: 9,639,581 (GRCm39) I155L probably benign Het
Hadha A G 5: 30,327,755 (GRCm39) I495T probably damaging Het
Herc4 C T 10: 63,109,365 (GRCm39) A200V possibly damaging Het
Itga3 C A 11: 94,967,188 (GRCm39) probably benign Het
Krt6a C T 15: 101,602,289 (GRCm39) S132N probably benign Het
Lpar1 T C 4: 58,486,857 (GRCm39) N138S possibly damaging Het
Lrrc42 T A 4: 107,096,983 (GRCm39) T247S probably damaging Het
Man2b1 T A 8: 85,813,804 (GRCm39) V256E probably damaging Het
Map3k4 G T 17: 12,490,536 (GRCm39) Y298* probably null Het
Mars1 A G 10: 127,144,455 (GRCm39) V195A probably benign Het
Mdm4 A T 1: 132,922,311 (GRCm39) V278E probably benign Het
Mdp1 A G 14: 55,897,544 (GRCm39) V37A probably damaging Het
Med13 A G 11: 86,199,652 (GRCm39) I685T probably benign Het
Mobp A G 9: 119,996,914 (GRCm39) N15S probably damaging Het
Nbn T A 4: 15,979,320 (GRCm39) M435K probably benign Het
Nfs1 A G 2: 155,965,703 (GRCm39) V126A probably benign Het
Npepl1 T A 2: 173,963,909 (GRCm39) V480E probably damaging Het
Nr2e3 G A 9: 59,855,972 (GRCm39) S155F possibly damaging Het
Oplah T C 15: 76,189,209 (GRCm39) D278G probably benign Het
Or4c124 A T 2: 89,156,157 (GRCm39) Y122* probably null Het
Or51q1c A G 7: 103,653,046 (GRCm39) H188R probably benign Het
Pard3 T C 8: 128,098,056 (GRCm39) Y366H probably damaging Het
Pcdhb11 A G 18: 37,555,006 (GRCm39) N112S possibly damaging Het
Pde11a A G 2: 76,168,189 (GRCm39) S255P probably damaging Het
Piezo1 T C 8: 123,224,268 (GRCm39) H745R Het
Pkn2 A T 3: 142,517,776 (GRCm39) S441T possibly damaging Het
Pld1 A C 3: 28,130,550 (GRCm39) H450P probably damaging Het
Plekhs1 T A 19: 56,459,209 (GRCm39) H22Q probably damaging Het
Prss44 A C 9: 110,645,611 (GRCm39) Y285S probably damaging Het
Qpctl T C 7: 18,878,852 (GRCm39) E249G probably benign Het
Rcsd1 A T 1: 165,491,185 (GRCm39) S50T probably damaging Het
Scube1 T A 15: 83,505,266 (GRCm39) N496Y probably damaging Het
Skic3 A G 13: 76,328,196 (GRCm39) M1415V probably benign Het
Slc16a8 AGGCC A 15: 79,136,125 (GRCm39) probably null Het
Slc38a4 T A 15: 96,903,781 (GRCm39) T407S probably benign Het
Slc51a T G 16: 32,298,590 (GRCm39) I56L probably benign Het
Slc6a18 T G 13: 73,819,755 (GRCm39) I272L probably damaging Het
Sorl1 A G 9: 42,035,375 (GRCm39) L12P possibly damaging Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Syne1 C T 10: 5,178,218 (GRCm39) R4752Q probably damaging Het
Tbc1d9 C A 8: 83,997,957 (GRCm39) H1171Q probably damaging Het
Thsd1 G A 8: 22,733,597 (GRCm39) V215I probably benign Het
Tmem143 T A 7: 45,557,598 (GRCm39) M208K probably benign Het
Tmem63b C T 17: 45,977,048 (GRCm39) V440I probably benign Het
Tnik A T 3: 28,700,776 (GRCm39) S918C probably damaging Het
Ttn A G 2: 76,733,751 (GRCm39) I4508T unknown Het
Vav2 A G 2: 27,173,334 (GRCm39) F497L probably damaging Het
Zc3h14 G A 12: 98,751,988 (GRCm39) R730Q probably damaging Het
Zfp560 G A 9: 20,259,384 (GRCm39) H493Y probably damaging 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
R7057:Runx2 UTSW 17 45,125,424 (GRCm39) missense probably null
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
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'- AGTTAGTTACACATGCCAAGTGC -3'
(R):5'- CTAACCACAGTCCATGCAGG -3'

Sequencing Primer
(F):5'- GACCTAGGAAAGCTCACA -3'
(R):5'- CCATGCAGGAATAGTAGGTCCTTC -3'
Posted On 2019-06-26