Incidental Mutation 'R8474:Runx2'
| ID |
657192 |
| 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 |
067918-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8474 (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 G
at 44919147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 375
(V375A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124494
(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 |
possibly damaging
Transcript: ENSMUST00000113571
AA Change: V411A
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
AA Change: V411A
| 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 |
possibly damaging
Transcript: ENSMUST00000113572
AA Change: V397A
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109202
Gene: ENSMUSG00000039153
AA Change: V397A
| 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: V411A
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
AA Change: V411A
| 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 |
possibly damaging
Transcript: ENSMUST00000160673
AA Change: V479A
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: V479A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162130
|
| SMART Domains |
Protein: ENSMUSP00000124199
Gene: ENSMUSG00000039153
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Runt
|
6 |
135 |
8e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162373
AA Change: V375A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124494
Gene: ENSMUSG00000039153
AA Change: V375A
| 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 |
possibly damaging
Transcript: ENSMUST00000162629
AA Change: V389A
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
AA Change: V389A
| 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 |
probably benign
Transcript: ENSMUST00000162816
|
| SMART Domains |
Protein: ENSMUSP00000125498
Gene: ENSMUSG00000039153
| 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 |
probably benign
Transcript: ENSMUST00000162878
AA Change: V304A
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000123707
Gene: ENSMUSG00000039153
AA Change: V304A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,576,638 (GRCm39) |
S975T |
probably damaging |
Het |
| Adgrg1 |
C |
G |
8: 95,729,936 (GRCm39) |
T46S |
probably damaging |
Het |
| Akip1 |
T |
A |
7: 109,306,697 (GRCm39) |
D131E |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,498,015 (GRCm39) |
V163A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,301,433 (GRCm39) |
|
probably null |
Het |
| Bcam |
A |
T |
7: 19,494,325 (GRCm39) |
L357* |
probably null |
Het |
| Bcat2 |
A |
G |
7: 45,237,075 (GRCm39) |
N194S |
probably damaging |
Het |
| Bcl2l14 |
T |
C |
6: 134,400,720 (GRCm39) |
L47P |
probably benign |
Het |
| Cbln1 |
C |
T |
8: 88,198,673 (GRCm39) |
A66T |
possibly damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,710,262 (GRCm39) |
|
probably benign |
Het |
| Cd70 |
C |
T |
17: 57,456,468 (GRCm39) |
S45N |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,886,363 (GRCm39) |
A84V |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,710,792 (GRCm39) |
N804Y |
possibly damaging |
Het |
| Cmah |
A |
T |
13: 24,601,350 (GRCm39) |
N52I |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,043,518 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,041,487 (GRCm39) |
P344T |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,247,978 (GRCm39) |
E705G |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,377,016 (GRCm39) |
Y125C |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,208,266 (GRCm39) |
Y739C |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,767,929 (GRCm39) |
M203K |
possibly damaging |
Het |
| Enpep |
C |
T |
3: 129,113,076 (GRCm39) |
V283M |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,260,784 (GRCm39) |
H1011R |
possibly damaging |
Het |
| Fig4 |
A |
T |
10: 41,108,170 (GRCm39) |
F677I |
probably benign |
Het |
| Gramd1b |
A |
G |
9: 40,287,207 (GRCm39) |
|
probably null |
Het |
| Gse1 |
C |
T |
8: 121,295,123 (GRCm39) |
|
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,202,506 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,752,566 (GRCm39) |
S1173R |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,556,605 (GRCm39) |
T718I |
possibly damaging |
Het |
| Ifit1bl1 |
A |
G |
19: 34,572,262 (GRCm39) |
L65P |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,107,798 (GRCm39) |
I22T |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,375,572 (GRCm39) |
C4409R |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,651,783 (GRCm39) |
W131R |
probably damaging |
Het |
| Mindy3 |
T |
C |
2: 12,404,839 (GRCm39) |
T190A |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,338,563 (GRCm39) |
D721G |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,561,745 (GRCm39) |
V466A |
possibly damaging |
Het |
| Myo5b |
A |
C |
18: 74,903,411 (GRCm39) |
D1809A |
probably damaging |
Het |
| Nudcd2 |
C |
T |
11: 40,624,850 (GRCm39) |
Q20* |
probably null |
Het |
| Or4f62 |
T |
C |
2: 111,986,320 (GRCm39) |
M8T |
probably benign |
Het |
| Or5b101 |
A |
G |
19: 13,005,357 (GRCm39) |
L112P |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,048 (GRCm39) |
L106H |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,730,272 (GRCm39) |
D335V |
probably damaging |
Het |
| Pebp4 |
T |
A |
14: 70,085,136 (GRCm39) |
C65S |
possibly damaging |
Het |
| Ptger1 |
C |
T |
8: 84,395,267 (GRCm39) |
A248V |
probably benign |
Het |
| Qki |
A |
T |
17: 10,537,747 (GRCm39) |
M19K |
probably benign |
Het |
| Ralgapa2 |
C |
G |
2: 146,266,750 (GRCm39) |
A609P |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,745,150 (GRCm39) |
G875D |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,836,730 (GRCm39) |
F841I |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,757,552 (GRCm39) |
D514G |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,934,586 (GRCm39) |
T623S |
probably benign |
Het |
| Sppl2c |
A |
G |
11: 104,078,963 (GRCm39) |
S588G |
probably benign |
Het |
| Stxbp6 |
A |
C |
12: 44,949,704 (GRCm39) |
V75G |
possibly damaging |
Het |
| Tmc3 |
G |
A |
7: 83,259,122 (GRCm39) |
R531Q |
probably damaging |
Het |
| Tmem258 |
T |
C |
19: 10,184,550 (GRCm39) |
Y41H |
probably damaging |
Het |
| Tsks |
A |
T |
7: 44,600,263 (GRCm39) |
T91S |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,681,599 (GRCm39) |
V169A |
probably benign |
Het |
| Wdr54 |
T |
C |
6: 83,129,985 (GRCm39) |
N282S |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,052,584 (GRCm39) |
N79K |
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 |
|
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 |
|
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'- GGTACCATTGGGAACTGATAGG -3'
(R):5'- GGAGAAAGCTAAGTTTTCCTCATC -3'
Sequencing Primer
(F):5'- TACCATTGGGAACTGATAGGATGCTG -3'
(R):5'- TTTTTCAGACCCCAGGCA -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation