Incidental Mutation 'R1514:Runx2'
ID 168650
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 039561-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1514 (G1)
Quality Score 169
Status Validated
Chromosome 17
Chromosomal Location 44806873-45125518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45046224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 114 (A114T)
Ref Sequence ENSEMBL: ENSMUSP00000124374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113568] [ENSMUST00000113571] [ENSMUST00000113572] [ENSMUST00000159943] [ENSMUST00000160673] [ENSMUST00000162878] [ENSMUST00000162629] [ENSMUST00000162816] [ENSMUST00000162373]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097320
Predicted Effect probably benign
Transcript: ENSMUST00000113568
Predicted Effect probably benign
Transcript: ENSMUST00000113571
AA Change: A114T

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
AA Change: A114T

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: A100T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109202
Gene: ENSMUSG00000039153
AA Change: A100T

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: A114T

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
AA Change: A114T

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: ENSMUST00000160673
AA Change: A182T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: A182T

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 possibly damaging
Transcript: ENSMUST00000162878
AA Change: A100T

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123707
Gene: ENSMUSG00000039153
AA Change: A100T

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000162629
AA Change: A114T

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
AA Change: A114T

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: A100T

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125498
Gene: ENSMUSG00000039153
AA Change: A100T

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: ENSMUST00000162373
AA Change: A100T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124494
Gene: ENSMUSG00000039153
AA Change: A100T

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 unknown
Transcript: ENSMUST00000162130
AA Change: A10T
SMART Domains Protein: ENSMUSP00000124199
Gene: ENSMUSG00000039153
AA Change: A10T

DomainStartEndE-ValueType
Pfam:Runt 6 135 8e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160672
Meta Mutation Damage Score 0.2358 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,448,729 (GRCm39) L147Q probably damaging Het
Aadacl4fm5 T C 4: 144,504,329 (GRCm39) N274S probably damaging Het
Abcb1a A G 5: 8,724,791 (GRCm39) T75A possibly damaging Het
Acvr1 A T 2: 58,337,597 (GRCm39) L495* probably null Het
Add1 T C 5: 34,767,961 (GRCm39) I240T probably benign Het
Adgra2 C A 8: 27,611,306 (GRCm39) S870* probably null Het
Amer3 G A 1: 34,618,408 (GRCm39) probably benign Het
Baz2b A T 2: 59,792,670 (GRCm39) V486D probably benign Het
Bcorl1 T A X: 47,494,821 (GRCm39) D1697E probably damaging Het
Cenpf T C 1: 189,411,338 (GRCm39) D282G possibly damaging Het
Cep112 A G 11: 108,362,880 (GRCm39) D200G probably damaging Het
Clec4a4 C T 6: 122,967,401 (GRCm39) P26S probably benign Het
Crygf A C 1: 65,967,197 (GRCm39) R102S possibly damaging Het
Cyp2b19 A T 7: 26,466,585 (GRCm39) E404D probably benign Het
Dcdc2a A G 13: 25,245,237 (GRCm39) I105V probably benign Het
Dus4l T C 12: 31,690,938 (GRCm39) M238V probably damaging Het
Eprs1 G A 1: 185,114,031 (GRCm39) M326I probably damaging Het
Evpl T C 11: 116,114,661 (GRCm39) T1010A probably benign Het
Fam124b T C 1: 80,178,148 (GRCm39) T284A possibly damaging Het
Glb1l2 A G 9: 26,680,420 (GRCm39) probably benign Het
Gm16223 T A 5: 42,225,298 (GRCm39) probably null Het
Gm4952 T A 19: 12,604,278 (GRCm39) M230K probably damaging Het
Gm5828 C A 1: 16,839,583 (GRCm39) noncoding transcript Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifna16 T A 4: 88,594,979 (GRCm39) T39S possibly damaging Het
Kcnc3 G A 7: 44,245,027 (GRCm39) G439D probably damaging Het
Kif1c T C 11: 70,596,555 (GRCm39) S257P probably damaging Het
Kng1 A G 16: 22,898,510 (GRCm39) K456E probably damaging Het
Lpxn T C 19: 12,801,414 (GRCm39) L142P probably damaging Het
Lratd1 C T 12: 14,199,864 (GRCm39) V288M probably damaging Het
Med23 A G 10: 24,768,565 (GRCm39) probably benign Het
Mks1 A T 11: 87,751,937 (GRCm39) D369V probably benign Het
Myo1d A T 11: 80,576,734 (GRCm39) Y114N probably damaging Het
Npas2 A G 1: 39,350,935 (GRCm39) D126G possibly damaging Het
Oga A G 19: 45,765,370 (GRCm39) S146P probably damaging Het
Onecut2 T C 18: 64,474,651 (GRCm39) F401L possibly damaging Het
Or10n1 T C 9: 39,524,992 (GRCm39) I43T probably damaging Het
Or10v1 A G 19: 11,873,978 (GRCm39) T198A probably benign Het
Or4f61 T C 2: 111,922,381 (GRCm39) I222V probably benign Het
Parp11 T A 6: 127,451,256 (GRCm39) F102Y possibly damaging Het
Pcnx1 C T 12: 81,965,572 (GRCm39) H580Y probably damaging Het
Pde3b A G 7: 114,130,001 (GRCm39) H852R probably damaging Het
Pira1 G A 7: 3,742,639 (GRCm39) T23I possibly damaging Het
Pou2af1 A G 9: 51,144,508 (GRCm39) T141A probably benign Het
Rgs22 A C 15: 36,013,246 (GRCm39) V1190G probably benign Het
Rnf112 T C 11: 61,341,236 (GRCm39) S450G probably benign Het
Rpgrip1l A T 8: 91,987,378 (GRCm39) I893N probably damaging Het
Rps3a1 A G 3: 86,045,834 (GRCm39) V210A probably benign Het
Sardh A G 2: 27,087,702 (GRCm39) V723A possibly damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Secisbp2 A G 13: 51,836,131 (GRCm39) S742G possibly damaging Het
Selenow G T 7: 15,654,223 (GRCm39) probably benign Het
Slc30a4 A G 2: 122,531,334 (GRCm39) V226A probably damaging Het
Sntb2 A G 8: 107,718,164 (GRCm39) N291D probably damaging Het
Sorbs2 A G 8: 46,222,866 (GRCm39) T190A probably damaging Het
Spata31e5 T A 1: 28,817,829 (GRCm39) T68S possibly damaging Het
Specc1 T A 11: 62,047,358 (GRCm39) L909H probably damaging Het
Sprr1b T C 3: 92,344,414 (GRCm39) *154W probably null Het
Taar4 T A 10: 23,836,510 (GRCm39) M40K possibly damaging Het
Ubr2 A T 17: 47,311,749 (GRCm39) L34H probably damaging Het
Ubxn6 T C 17: 56,376,003 (GRCm39) K386R probably benign Het
Vmn2r112 A T 17: 22,821,825 (GRCm39) T168S probably benign Het
Xirp2 A T 2: 67,344,667 (GRCm39) R2303* probably null Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp13 G T 17: 23,795,386 (GRCm39) T395K probably damaging Het
Zfp281 A G 1: 136,554,435 (GRCm39) N471S probably benign 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
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
R9615:Runx2 UTSW 17 44,969,560 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGAAGCTTGCAGCTCACAGTG -3'
(R):5'- GCGTATTCCTGTAGATCCGAGCAC -3'

Sequencing Primer
(F):5'- GTATGTAGATCAGAGCCACCTCG -3'
(R):5'- agcaacagcagcagcag -3'
Posted On 2014-04-13