Incidental Mutation 'R9158:Runx2'
| ID |
695538 |
| 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 |
068942-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9158 (G1)
|
| Quality Score |
178.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44806873-45125518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45046508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 5
(V5A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109202
(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
|
| SMART Domains |
Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
| 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 benign
Transcript: ENSMUST00000113572
AA Change: V5A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109202
Gene: ENSMUSG00000039153
AA Change: V5A
| 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 |
probably benign
Transcript: ENSMUST00000159943
|
| SMART Domains |
Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
| 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 benign
Transcript: ENSMUST00000160199
|
| SMART Domains |
Protein: ENSMUSP00000125196
Gene: ENSMUSG00000039153
| 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: ENSMUST00000160673
|
| SMART Domains |
Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
| 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 benign
Transcript: ENSMUST00000162373
AA Change: V5A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124494
Gene: ENSMUSG00000039153
AA Change: V5A
| 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 |
probably benign
Transcript: ENSMUST00000162629
|
| SMART Domains |
Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
| 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: ENSMUST00000162816
AA Change: V5A
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125498
Gene: ENSMUSG00000039153
AA Change: V5A
| 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: ENSMUST00000162878
AA Change: V5A
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123707
Gene: ENSMUSG00000039153
AA Change: V5A
| 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: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
A |
8: 41,208,645 (GRCm39) |
C637Y |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,792,505 (GRCm39) |
T1249A |
possibly damaging |
Het |
| Alkbh3 |
A |
G |
2: 93,835,082 (GRCm39) |
S88P |
probably damaging |
Het |
| Ankrd17 |
C |
A |
5: 90,416,575 (GRCm39) |
A1086S |
probably damaging |
Het |
| Ankzf1 |
T |
A |
1: 75,173,020 (GRCm39) |
V372E |
probably damaging |
Het |
| Apbb1ip |
T |
C |
2: 22,764,951 (GRCm39) |
V544A |
probably benign |
Het |
| Atp13a2 |
T |
C |
4: 140,724,112 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
A |
G |
5: 16,140,039 (GRCm39) |
T10A |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,546,356 (GRCm38) |
N500S |
probably benign |
Het |
| Casp16 |
A |
G |
17: 23,769,948 (GRCm39) |
|
probably benign |
Het |
| Cdh22 |
T |
A |
2: 165,012,627 (GRCm39) |
I153F |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,521,251 (GRCm39) |
E964G |
probably benign |
Het |
| Cracdl |
A |
T |
1: 37,670,442 (GRCm39) |
M166K |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,198 (GRCm39) |
D65G |
probably benign |
Het |
| Dap3 |
A |
G |
3: 88,832,637 (GRCm39) |
Y357H |
probably damaging |
Het |
| Eef2 |
C |
T |
10: 81,014,693 (GRCm39) |
|
probably benign |
Het |
| Gja4 |
A |
G |
4: 127,206,466 (GRCm39) |
L99P |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,765,005 (GRCm39) |
Y135* |
probably null |
Het |
| Gm5114 |
T |
G |
7: 39,060,486 (GRCm39) |
D121A |
probably damaging |
Het |
| Gm6525 |
A |
G |
3: 84,082,255 (GRCm39) |
K59E |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,376,400 (GRCm39) |
L3407F |
probably benign |
Het |
| Hmgcr |
G |
A |
13: 96,792,170 (GRCm39) |
R589* |
probably null |
Het |
| Iglv3 |
A |
C |
16: 19,060,012 (GRCm39) |
D105E |
probably damaging |
Het |
| Il1r1 |
G |
A |
1: 40,332,391 (GRCm39) |
W60* |
probably null |
Het |
| Il31ra |
C |
T |
13: 112,670,394 (GRCm39) |
W331* |
probably null |
Het |
| Inca1 |
C |
T |
11: 70,581,376 (GRCm39) |
C16Y |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,442,552 (GRCm39) |
T628A |
possibly damaging |
Het |
| Kdm2a |
C |
G |
19: 4,374,715 (GRCm39) |
R805S |
possibly damaging |
Het |
| Kel |
T |
A |
6: 41,664,905 (GRCm39) |
I620L |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,741,020 (GRCm39) |
G4638R |
unknown |
Het |
| Lilrb4b |
T |
A |
10: 51,357,829 (GRCm39) |
N174K |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltf |
T |
A |
9: 110,868,003 (GRCm39) |
V615E |
probably damaging |
Het |
| Map7d1 |
G |
T |
4: 126,130,478 (GRCm39) |
Q443K |
possibly damaging |
Het |
| Mapk9 |
A |
G |
11: 49,745,095 (GRCm39) |
D3G |
probably benign |
Het |
| Nktr |
T |
G |
9: 121,582,154 (GRCm39) |
S1424A |
unknown |
Het |
| Npas1 |
A |
G |
7: 16,195,333 (GRCm39) |
S332P |
possibly damaging |
Het |
| Or13a25 |
T |
C |
7: 140,247,547 (GRCm39) |
S109P |
possibly damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,086 (GRCm39) |
Y295C |
probably damaging |
Het |
| Or5ak4 |
A |
G |
2: 85,161,348 (GRCm39) |
I298T |
probably benign |
Het |
| Or6d12 |
T |
C |
6: 116,492,791 (GRCm39) |
F18L |
possibly damaging |
Het |
| Or8b12b |
C |
A |
9: 37,684,800 (GRCm39) |
P282T |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,005,182 (GRCm39) |
W948R |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,195,614 (GRCm39) |
E100G |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,836,466 (GRCm39) |
V246D |
unknown |
Het |
| Pitpnb |
A |
T |
5: 111,530,876 (GRCm39) |
N223I |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,394,207 (GRCm39) |
R2065* |
probably null |
Het |
| Prepl |
T |
C |
17: 85,383,379 (GRCm39) |
D355G |
possibly damaging |
Het |
| Sema4g |
T |
A |
19: 44,986,846 (GRCm39) |
V433D |
possibly damaging |
Het |
| Sema6a |
C |
T |
18: 47,431,330 (GRCm39) |
V123I |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 79,994,732 (GRCm39) |
K24E |
probably benign |
Het |
| Slc22a8 |
T |
A |
19: 8,583,427 (GRCm39) |
S211T |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,221,217 (GRCm39) |
D221G |
possibly damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,637,166 (GRCm39) |
L323Q |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,687,988 (GRCm39) |
|
probably benign |
Het |
| Trim65 |
G |
A |
11: 116,018,050 (GRCm39) |
T311I |
probably benign |
Het |
| Tub |
T |
C |
7: 108,625,962 (GRCm39) |
F284L |
possibly damaging |
Het |
| Ube2j1 |
G |
A |
4: 33,036,711 (GRCm39) |
V12I |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,161 (GRCm39) |
N97Y |
probably benign |
Het |
| Vmn2r49 |
C |
A |
7: 9,722,835 (GRCm39) |
W146C |
probably damaging |
Het |
| Zfp628 |
T |
C |
7: 4,922,153 (GRCm39) |
L125P |
probably damaging |
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 |
|
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 |
|
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'- CAGTCTCTTACCTTGAAGGCCAC -3'
(R):5'- ACACGGCTTCCTCGAACTTG -3'
Sequencing Primer
(F):5'- ATGATCTCCACCATGGTGCG -3'
(R):5'- ACGGCTTCCTCGAACTTGATTTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation