Incidental Mutation 'R9615:Runx2'
ID 724537
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9615 (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 44969560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 310 (D310E)
Ref Sequence ENSEMBL: ENSMUSP00000123743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113568] [ENSMUST00000113571] [ENSMUST00000113572] [ENSMUST00000159943] [ENSMUST00000160673] [ENSMUST00000162373] [ENSMUST00000162629] [ENSMUST00000162816] [ENSMUST00000162878]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000113568
Predicted Effect probably benign
Transcript: ENSMUST00000113571
AA Change: D242E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
AA Change: D242E

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
SMART Domains Protein: ENSMUSP00000109202
Gene: ENSMUSG00000039153
AA Change: D228E

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
coiled coil region 31 75 N/A INTRINSIC
Pfam:Runt 92 226 3.6e-83 PFAM
Pfam:RunxI 420 514 2.7e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159943
AA Change: D242E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
AA Change: D242E

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: ENSMUST00000160199
SMART Domains Protein: ENSMUSP00000125196
Gene: ENSMUSG00000039153

DomainStartEndE-ValueType
Pfam:Runt 4 101 3.3e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160672
Predicted Effect probably benign
Transcript: ENSMUST00000160673
AA Change: D310E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: D310E

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: ENSMUST00000162130
SMART Domains Protein: ENSMUSP00000124199
Gene: ENSMUSG00000039153

DomainStartEndE-ValueType
Pfam:Runt 6 135 8e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162373
AA Change: D228E

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124494
Gene: ENSMUSG00000039153
AA Change: D228E

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
coiled coil region 31 75 N/A INTRINSIC
Pfam:Runt 92 226 3.3e-83 PFAM
Pfam:RunxI 398 492 2.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162629
AA Change: D242E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
AA Change: D242E

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 probably benign
Transcript: ENSMUST00000162816
SMART Domains Protein: ENSMUSP00000125498
Gene: ENSMUSG00000039153

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
coiled coil region 31 75 N/A INTRINSIC
Pfam:Runt 92 226 8e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162878
SMART Domains Protein: ENSMUSP00000123707
Gene: ENSMUSG00000039153

DomainStartEndE-ValueType
Pfam:Med15 6 224 1.4e-6 PFAM
Pfam:Runt 92 192 8.1e-54 PFAM
Pfam:RunxI 327 420 5.8e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,814 (GRCm39) Q124R probably damaging Het
Abca16 T A 7: 120,126,404 (GRCm39) F1188I probably benign Het
Acat3 G A 17: 13,147,502 (GRCm39) Q172* probably null Het
Aicda T A 6: 122,538,113 (GRCm39) C90* probably null Het
Arhgap39 C A 15: 76,621,438 (GRCm39) V388L probably benign Het
B020011L13Rik A T 1: 117,729,462 (GRCm39) H323L probably damaging Het
Bsn C T 9: 107,984,430 (GRCm39) R436Q Het
C3 A T 17: 57,518,669 (GRCm39) L1238Q probably damaging Het
Cert1 C T 13: 96,767,334 (GRCm39) H495Y possibly damaging Het
Ces1g A G 8: 94,061,807 (GRCm39) V33A probably damaging Het
Clstn1 A G 4: 149,722,757 (GRCm39) D475G probably damaging Het
Cmtm2a A G 8: 105,019,286 (GRCm39) V101A probably damaging Het
Cnnm4 A G 1: 36,511,893 (GRCm39) M374V probably damaging Het
Commd9 T C 2: 101,727,436 (GRCm39) S77P possibly damaging Het
Cox7a2l A G 17: 83,821,701 (GRCm39) Y2H possibly damaging Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Cubn G A 2: 13,325,991 (GRCm39) H2725Y possibly damaging Het
Cyp2c39 T C 19: 39,501,617 (GRCm39) F57L probably benign Het
Dgkh A T 14: 78,813,370 (GRCm39) V1036D possibly damaging Het
Dip2c G A 13: 9,625,191 (GRCm39) V562I probably benign Het
Fat3 T C 9: 16,289,343 (GRCm39) Q60R probably benign Het
Gm1527 A G 3: 28,969,475 (GRCm39) D275G probably damaging Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Grik4 T A 9: 42,502,765 (GRCm39) K453* probably null Het
Hdlbp T C 1: 93,358,014 (GRCm39) T296A probably benign Het
Hrh4 C A 18: 13,154,944 (GRCm39) T161K probably benign Het
Ift74 A T 4: 94,550,822 (GRCm39) probably null Het
Kctd5 A T 17: 24,292,192 (GRCm39) Y71N probably benign Het
Klhl42 T C 6: 147,009,373 (GRCm39) L404P probably damaging Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lipe T A 7: 25,097,326 (GRCm39) K206* probably null Het
Lipo3 T C 19: 33,754,047 (GRCm39) I363V probably benign Het
Mrgpra6 T A 7: 46,835,675 (GRCm39) I249F probably benign Het
Myo15a A T 11: 60,374,320 (GRCm39) N125I Het
Nbr1 T A 11: 101,465,978 (GRCm39) I753N probably benign Het
Ndor1 T C 2: 25,138,434 (GRCm39) D451G probably benign Het
Nlrp5 C T 7: 23,107,561 (GRCm39) T78I probably benign Het
Or10j3b A T 1: 173,044,034 (GRCm39) E272V possibly damaging Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Prom1 A G 5: 44,164,399 (GRCm39) F728S probably damaging Het
Ptgs2 T A 1: 149,980,802 (GRCm39) F456Y probably damaging Het
Rtl1 G A 12: 109,556,835 (GRCm39) A1668V possibly damaging Het
Samd4b A T 7: 28,106,714 (GRCm39) I349K probably damaging Het
Scn10a A G 9: 119,487,504 (GRCm39) M610T possibly damaging Het
Sec61b A G 4: 47,483,056 (GRCm39) I105V probably benign Het
Semp2l2b T C 10: 21,943,611 (GRCm39) E123G probably benign Het
Slc35f4 A G 14: 49,556,306 (GRCm39) V149A probably benign Het
Smndc1 T A 19: 53,368,951 (GRCm39) M221L probably damaging Het
Ssh2 A G 11: 77,316,203 (GRCm39) N275D possibly damaging Het
Tas2r124 C T 6: 132,732,492 (GRCm39) T267I probably benign Het
Thra G A 11: 98,651,715 (GRCm39) R79H probably damaging Het
Tie1 T C 4: 118,347,032 (GRCm39) probably benign Het
Umodl1 A C 17: 31,217,152 (GRCm39) Q1128P possibly damaging Het
Vps35 G A 8: 86,010,633 (GRCm39) R237C probably benign Het
Zfp78 T A 7: 6,382,074 (GRCm39) C343S probably damaging Het
Zfp85 A G 13: 67,897,326 (GRCm39) Y249H 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
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
Predicted Primers PCR Primer
(F):5'- AAACCTATGCGTCTGTCTTACCTG -3'
(R):5'- TCAGTCCCCGCATACAGATAG -3'

Sequencing Primer
(F):5'- ATGCGTCTGTCTTACCTGTAATCTG -3'
(R):5'- TGTCACCCTACGATGCTTGAAGAG -3'
Posted On 2022-09-12