Incidental Mutation 'R4686:Runx2'
| ID |
353709 |
| 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 |
041937-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4686 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44806873-45125518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44950572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 327
(D327V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113568]
[ENSMUST00000113571]
[ENSMUST00000113572]
[ENSMUST00000159943]
[ENSMUST00000162816]
[ENSMUST00000162629]
[ENSMUST00000162878]
[ENSMUST00000162373]
[ENSMUST00000160673]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113568
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113571
AA Change: D341V
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
AA Change: D341V
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000113572
AA Change: D327V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109202
Gene: ENSMUSG00000039153
AA Change: D327V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000159943
AA Change: D341V
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
AA Change: D341V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
unknown
Transcript: ENSMUST00000160199
AA Change: D145V
|
| SMART Domains |
Protein: ENSMUSP00000125196
Gene: ENSMUSG00000039153
AA Change: D145V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Runt
|
4 |
101 |
3.3e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162816
AA Change: D269V
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125498
Gene: ENSMUSG00000039153
AA Change: D269V
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000162629
AA Change: D341V
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
AA Change: D341V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000162878
AA Change: D234V
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123707
Gene: ENSMUSG00000039153
AA Change: D234V
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000162373
AA Change: D327V
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124494
Gene: ENSMUSG00000039153
AA Change: D327V
| Domain | Start | End | E-Value | Type |
|---|
|
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: D179V
|
| SMART Domains |
Protein: ENSMUSP00000124199
Gene: ENSMUSG00000039153
AA Change: D179V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Runt
|
6 |
135 |
8e-76 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160673
AA Change: D409V
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: D409V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.3184 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (68/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
G |
2: 26,983,837 (GRCm39) |
N411S |
probably damaging |
Het |
| Adnp |
A |
C |
2: 168,024,309 (GRCm39) |
C995W |
possibly damaging |
Het |
| Akap6 |
CA |
C |
12: 52,934,406 (GRCm39) |
|
probably null |
Het |
| Ano2 |
T |
G |
6: 125,767,254 (GRCm39) |
I228M |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,033 (GRCm39) |
D830G |
probably damaging |
Het |
| Atp13a2 |
G |
A |
4: 140,730,587 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
C |
T |
12: 72,159,052 (GRCm39) |
S629N |
probably damaging |
Het |
| Cdhr4 |
T |
C |
9: 107,872,883 (GRCm39) |
W311R |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,681,472 (GRCm39) |
H30R |
probably benign |
Het |
| Clnk |
G |
A |
5: 38,899,180 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
A |
G |
7: 113,820,971 (GRCm39) |
S773P |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,774,080 (GRCm39) |
D198G |
probably damaging |
Het |
| Ears2 |
A |
G |
7: 121,647,427 (GRCm39) |
S286P |
probably damaging |
Het |
| Efcab7 |
A |
G |
4: 99,735,318 (GRCm39) |
E114G |
probably benign |
Het |
| Fanca |
G |
C |
8: 123,995,673 (GRCm39) |
|
probably benign |
Het |
| Flt3 |
A |
G |
5: 147,313,858 (GRCm39) |
L64P |
probably damaging |
Het |
| Gabrb1 |
A |
G |
5: 71,857,365 (GRCm39) |
T3A |
possibly damaging |
Het |
| Gm10384 |
T |
C |
15: 36,871,897 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
G |
A |
8: 32,229,284 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr141 |
T |
A |
13: 19,935,951 (GRCm39) |
I275F |
probably benign |
Het |
| Greb1l |
A |
T |
18: 10,522,112 (GRCm39) |
E736V |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,929,260 (GRCm39) |
E279G |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,309,326 (GRCm39) |
T522M |
probably benign |
Het |
| Hspa12a |
T |
A |
19: 58,788,181 (GRCm39) |
E547V |
possibly damaging |
Het |
| Il10ra |
A |
G |
9: 45,180,357 (GRCm39) |
L5S |
probably damaging |
Het |
| Iqcf6 |
G |
T |
9: 106,504,543 (GRCm39) |
W69L |
probably damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,858,117 (GRCm39) |
N379S |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,131,273 (GRCm39) |
I1977T |
probably damaging |
Het |
| Kcnq1 |
A |
T |
7: 142,661,466 (GRCm39) |
Y124F |
probably benign |
Het |
| Lamp5 |
C |
T |
2: 135,900,923 (GRCm39) |
T41M |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,294,648 (GRCm39) |
|
probably benign |
Het |
| Mlec |
A |
G |
5: 115,288,355 (GRCm39) |
I167T |
possibly damaging |
Het |
| Myf6 |
A |
G |
10: 107,329,689 (GRCm39) |
V198A |
probably benign |
Het |
| Nceh1 |
C |
T |
3: 27,295,818 (GRCm39) |
R360C |
probably damaging |
Het |
| Nos2 |
C |
A |
11: 78,819,456 (GRCm39) |
T56N |
possibly damaging |
Het |
| Npw |
T |
G |
17: 24,876,386 (GRCm39) |
H175P |
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 89,477,421 (GRCm39) |
I899F |
probably damaging |
Het |
| Ociad1 |
A |
G |
5: 73,464,078 (GRCm39) |
T179A |
possibly damaging |
Het |
| Or1e19 |
A |
G |
11: 73,316,264 (GRCm39) |
S182P |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,356 (GRCm39) |
Y134C |
probably damaging |
Het |
| Or8b48 |
T |
A |
9: 38,493,327 (GRCm39) |
F251L |
probably damaging |
Het |
| Pacsin2 |
T |
C |
15: 83,265,976 (GRCm39) |
N74D |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,511 (GRCm39) |
I1196V |
probably benign |
Het |
| Pdxk |
A |
T |
10: 78,282,837 (GRCm39) |
|
probably null |
Het |
| Phb2 |
G |
A |
6: 124,690,105 (GRCm39) |
|
probably null |
Het |
| Pus7l |
T |
A |
15: 94,438,092 (GRCm39) |
N251I |
probably damaging |
Het |
| Rgs7bp |
T |
A |
13: 105,100,597 (GRCm39) |
N226I |
probably damaging |
Het |
| Srp68 |
A |
T |
11: 116,156,227 (GRCm39) |
C172S |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,551,142 (GRCm39) |
|
probably null |
Het |
| Tbrg4 |
C |
T |
11: 6,568,468 (GRCm39) |
R437Q |
probably benign |
Het |
| Tedc2 |
C |
T |
17: 24,436,862 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
A |
1: 153,768,196 (GRCm39) |
I220N |
probably damaging |
Het |
| Thoc1 |
G |
T |
18: 9,970,312 (GRCm39) |
E221* |
probably null |
Het |
| Tmem132d |
G |
T |
5: 127,869,674 (GRCm39) |
D553E |
possibly damaging |
Het |
| Topors |
A |
T |
4: 40,261,694 (GRCm39) |
V530D |
probably benign |
Het |
| Tpx2 |
T |
C |
2: 152,731,103 (GRCm39) |
V515A |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,885,240 (GRCm39) |
H191R |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,567,914 (GRCm39) |
R27660W |
probably damaging |
Het |
| Vmn1r203 |
T |
C |
13: 22,708,528 (GRCm39) |
L103P |
probably damaging |
Het |
| Vmn1r233 |
C |
T |
17: 21,214,368 (GRCm39) |
S194N |
probably benign |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,636 (GRCm39) |
K296E |
probably damaging |
Het |
| Vmn2r88 |
G |
A |
14: 51,650,796 (GRCm39) |
E170K |
probably benign |
Het |
| Zfp740 |
C |
T |
15: 102,117,184 (GRCm39) |
|
probably benign |
Het |
| Zmym5 |
A |
G |
14: 57,049,618 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Runx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- CGGGCAGATTTTCATCTCTTG -3'
(R):5'- GGACTACTGAAAGGGTTTTGCG -3'
Sequencing Primer
(F):5'- CAAGCGTTTGATAGCCCCGTAAATG -3'
(R):5'- CTACTGAAAGGGTTTTGCGTTTCATC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation