Incidental Mutation 'R6980:Runx2'
ID 543804
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 045088-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6980 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 44806873-45125518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45046203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 107 (V107I)
Ref Sequence ENSEMBL: ENSMUSP00000123707 (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: V121I

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
AA Change: V121I

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: ENSMUST00000113572
AA Change: V107I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109202
Gene: ENSMUSG00000039153
AA Change: V107I

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: V121I

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
AA Change: V121I

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: V189I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: V189I

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
SMART Domains Protein: ENSMUSP00000124199
Gene: ENSMUSG00000039153
AA Change: V17I

DomainStartEndE-ValueType
Pfam:Runt 6 135 8e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162373
AA Change: V107I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124494
Gene: ENSMUSG00000039153
AA Change: V107I

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: V121I

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
AA Change: V121I

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
AA Change: V107I

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125498
Gene: ENSMUSG00000039153
AA Change: V107I

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 possibly damaging
Transcript: ENSMUST00000162878
AA Change: V107I

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123707
Gene: ENSMUSG00000039153
AA Change: V107I

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: 100.0%
  • 10x: 99.7%
  • 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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C A 2: 25,330,878 (GRCm39) R1189S possibly damaging Het
Abcf2 T C 5: 24,770,970 (GRCm39) Q594R probably benign Het
Abhd18 G A 3: 40,888,215 (GRCm39) S353N probably benign Het
Adrb1 G T 19: 56,712,046 (GRCm39) A415S probably benign Het
Art2b T C 7: 101,229,680 (GRCm39) N73S probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 CACTGGTTCTGTGGT CACTGGTTCTGTGGTTACTGGTTCTGTGGT 3: 95,795,480 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,451 (GRCm39) probably benign Het
Cacna1a A G 8: 85,338,914 (GRCm39) M1753V possibly damaging Het
Cbx8 A T 11: 118,930,287 (GRCm39) I102N possibly damaging Het
Ccdc178 T A 18: 22,238,620 (GRCm39) E332D probably benign Het
Cdhr17 T A 5: 17,031,944 (GRCm39) V533D possibly damaging Het
Cfap74 G A 4: 155,550,809 (GRCm39) probably benign Het
Chat A T 14: 32,146,111 (GRCm39) M354K probably benign Het
Cmas A G 6: 142,702,526 (GRCm39) T10A probably damaging Het
Cyb561d1 A T 3: 108,107,475 (GRCm39) L51H probably benign Het
D030056L22Rik A T 19: 18,694,629 (GRCm39) N128I probably damaging Het
D130043K22Rik G T 13: 25,048,764 (GRCm39) A423S probably damaging Het
Dnah14 T C 1: 181,475,795 (GRCm39) I1349T probably benign Het
Dnajb3 T G 1: 88,132,736 (GRCm39) D222A probably damaging Het
Dtx1 T C 5: 120,819,422 (GRCm39) E592G probably damaging Het
Dzank1 C T 2: 144,332,056 (GRCm39) G427R possibly damaging Het
E130308A19Rik A C 4: 59,719,991 (GRCm39) K508Q probably damaging Het
Eif4e1b T A 13: 54,931,916 (GRCm39) probably null Het
Ell2 A G 13: 75,904,495 (GRCm39) M159V probably null Het
Eml4 G A 17: 83,758,446 (GRCm39) V377I probably benign Het
Fryl A T 5: 73,207,773 (GRCm39) S2466T probably benign Het
Gfpt1 C A 6: 87,054,071 (GRCm39) T426K probably damaging Het
Gm49355 T C 14: 12,307,173 (GRCm38) probably benign Het
Gm5114 T C 7: 39,058,624 (GRCm39) I332V probably benign Het
Gpr15 T A 16: 58,539,105 (GRCm39) probably benign Het
Gpr179 T C 11: 97,225,684 (GRCm39) E2157G probably benign Het
Gramd4 A G 15: 86,016,170 (GRCm39) N482S probably benign Het
Hfm1 A T 5: 107,028,343 (GRCm39) I829K probably benign Het
Hydin A T 8: 111,139,916 (GRCm39) E728D possibly damaging Het
Ifngr2 T A 16: 91,356,895 (GRCm39) V143E probably damaging Het
Ift172 T C 5: 31,414,730 (GRCm39) D1390G probably benign Het
Kdf1 A T 4: 133,256,138 (GRCm39) D285V probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mdn1 G A 4: 32,726,942 (GRCm39) probably null Het
Megf11 A G 9: 64,613,132 (GRCm39) E1016G probably damaging Het
Mixl1 G A 1: 180,524,453 (GRCm39) A42V possibly damaging Het
Mpp2 A G 11: 101,950,154 (GRCm39) W567R probably damaging Het
Mrgpra6 A G 7: 46,838,697 (GRCm39) L136P probably damaging Het
Mroh7 T A 4: 106,557,434 (GRCm39) I759L probably benign Het
Nrxn2 A G 19: 6,500,609 (GRCm39) D277G probably benign Het
Nup210l A T 3: 90,027,234 (GRCm39) K205N probably benign Het
Or4g17 A G 2: 111,209,620 (GRCm39) I92V possibly damaging Het
Or4p4b-ps1 A G 2: 88,453,939 (GRCm39) *97W probably null Het
Or52e19b T C 7: 103,032,303 (GRCm39) E302G probably benign Het
Or5al6 A T 2: 85,976,681 (GRCm39) Y132* probably null Het
Oxnad1 C T 14: 31,807,576 (GRCm39) probably benign Het
Pamr1 C T 2: 102,472,549 (GRCm39) T616I probably benign Het
Pcdhgb5 C T 18: 37,866,592 (GRCm39) H796Y possibly damaging Het
Pdlim7 G T 13: 55,656,041 (GRCm39) D126E probably benign Het
Pfdn2 C T 1: 171,185,465 (GRCm39) probably benign Het
Piezo2 T A 18: 63,216,032 (GRCm39) probably null Het
Pms2 A T 5: 143,848,842 (GRCm39) I43L probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Ptpn4 T A 1: 119,671,151 (GRCm39) E202D possibly damaging Het
Rnf40 T A 7: 127,193,849 (GRCm39) V455E probably damaging Het
Rp1l1 A G 14: 64,266,169 (GRCm39) N585S probably benign Het
Rrp12 A G 19: 41,878,582 (GRCm39) S188P probably damaging Het
Rsbn1l T A 5: 21,101,482 (GRCm39) H686L probably benign Het
Rusc2 A G 4: 43,422,846 (GRCm39) I994M probably benign Het
Ryr1 T A 7: 28,808,812 (GRCm39) D420V probably benign Het
Sash1 T C 10: 8,605,612 (GRCm39) Q926R probably benign Het
Scgb3a2 T A 18: 43,897,499 (GRCm39) I6N probably damaging Het
Sdc3 T A 4: 130,544,233 (GRCm39) probably benign Het
Sik2 A G 9: 50,808,755 (GRCm39) V658A probably benign Het
Slc25a39 A G 11: 102,296,601 (GRCm39) V81A probably damaging Het
Snai2 T A 16: 14,526,113 (GRCm39) S255T possibly damaging Het
Sorbs1 A T 19: 40,316,060 (GRCm39) Y371* probably null Het
Spata31d1b A T 13: 59,863,236 (GRCm39) H128L probably benign Het
Spdl1 A T 11: 34,721,706 (GRCm39) M1K probably null Het
Tgm3 T A 2: 129,868,697 (GRCm39) N211K probably benign Het
Tmem116 T C 5: 121,606,050 (GRCm39) probably null Het
Tmem132e T A 11: 82,329,212 (GRCm39) probably null Het
Tmem53 T C 4: 117,125,705 (GRCm39) C251R probably damaging Het
Trcg1 A C 9: 57,152,856 (GRCm39) D551A probably damaging Het
Trp63 T A 16: 25,620,843 (GRCm39) F12I probably benign Het
Ttn C T 2: 76,709,401 (GRCm39) probably null Het
Tubgcp4 T C 2: 121,025,946 (GRCm39) V596A probably benign Het
Ugt2a3 A C 5: 87,473,491 (GRCm39) H475Q probably damaging Het
Unc79 G A 12: 103,025,759 (GRCm39) R382K probably damaging Het
Vmn2r58 T C 7: 41,513,662 (GRCm39) H327R possibly damaging Het
Vmn2r7 G A 3: 64,623,987 (GRCm39) T111I possibly damaging Het
Zfp318 T A 17: 46,708,138 (GRCm39) Y399N 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
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
R9615:Runx2 UTSW 17 44,969,560 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTCTTGGAGGACACCCATG -3'
(R):5'- GATGCGTATTCCTGTAGATCCG -3'

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