Incidental Mutation 'R7835:Runx2'
| ID |
605942 |
| 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 |
045889-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44806873-45125518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44919123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 405
(M405K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113568]
[ENSMUST00000113571]
[ENSMUST00000113572]
[ENSMUST00000159943]
[ENSMUST00000160673]
[ENSMUST00000162373]
[ENSMUST00000162629]
[ENSMUST00000162878]
[ENSMUST00000162816]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113568
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113571
AA Change: M419K
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
AA Change: M419K
| 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: M405K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109202
Gene: ENSMUSG00000039153
AA Change: M405K
| 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: M419K
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
AA Change: M419K
| 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: M487K
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: M487K
| 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 |
possibly damaging
Transcript: ENSMUST00000162373
AA Change: M383K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124494
Gene: ENSMUSG00000039153
AA Change: M383K
| 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: M397K
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
AA Change: M397K
| 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: M312K
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123707
Gene: ENSMUSG00000039153
AA Change: M312K
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.5103 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,749,623 (GRCm39) |
S1465T |
probably benign |
Het |
| Accsl |
T |
A |
2: 93,696,329 (GRCm39) |
K90* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,848,299 (GRCm39) |
D674E |
possibly damaging |
Het |
| Adap2 |
T |
A |
11: 80,051,057 (GRCm39) |
V129D |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,823,557 (GRCm39) |
D742G |
|
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,831,350 (GRCm39) |
|
probably null |
Het |
| Ccne1 |
G |
T |
7: 37,802,270 (GRCm39) |
Q133K |
probably benign |
Het |
| Cers3 |
C |
T |
7: 66,423,387 (GRCm39) |
H111Y |
possibly damaging |
Het |
| Chst5 |
A |
T |
8: 112,617,234 (GRCm39) |
L129M |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,530 (GRCm39) |
S164P |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,854,298 (GRCm39) |
A1966T |
probably damaging |
Het |
| Fcgbp |
T |
G |
7: 27,816,632 (GRCm39) |
S2365A |
possibly damaging |
Het |
| Ihh |
A |
G |
1: 74,985,525 (GRCm39) |
V320A |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 900,558 (GRCm39) |
V201A |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 65,004,901 (GRCm39) |
H1117Q |
probably benign |
Het |
| Lcn8 |
C |
A |
2: 25,545,308 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
T |
C |
2: 91,325,387 (GRCm39) |
V1404A |
possibly damaging |
Het |
| Lrrc61 |
A |
T |
6: 48,545,506 (GRCm39) |
T110S |
probably benign |
Het |
| Mrpl19 |
G |
A |
6: 81,939,107 (GRCm39) |
R232C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Mzt1 |
T |
C |
14: 99,283,439 (GRCm39) |
T21A |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,452,512 (GRCm39) |
A183E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,040,589 (GRCm39) |
D6624G |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,460,897 (GRCm39) |
D183G |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 103,803,652 (GRCm39) |
Y195* |
probably null |
Het |
| Or7g16 |
T |
A |
9: 18,727,105 (GRCm39) |
M162L |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,216,016 (GRCm39) |
F1216I |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,892,126 (GRCm39) |
V135A |
probably benign |
Het |
| Ppcdc |
A |
G |
9: 57,327,559 (GRCm39) |
S83P |
probably benign |
Het |
| Prss21 |
A |
T |
17: 24,088,425 (GRCm39) |
Q130L |
possibly damaging |
Het |
| Rdx |
T |
A |
9: 51,977,088 (GRCm39) |
N112K |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,082,057 (GRCm39) |
|
probably null |
Het |
| Rps23rg1 |
A |
G |
8: 3,630,452 (GRCm39) |
|
probably benign |
Het |
| Rps26 |
C |
T |
10: 128,461,995 (GRCm39) |
V40I |
probably benign |
Het |
| Serinc2 |
A |
C |
4: 130,169,280 (GRCm39) |
C4G |
unknown |
Het |
| Sh3rf2 |
C |
A |
18: 42,244,235 (GRCm39) |
R266S |
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,007,822 (GRCm39) |
I386T |
possibly damaging |
Het |
| Stab2 |
G |
A |
10: 86,708,483 (GRCm39) |
P1694L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tasor |
G |
T |
14: 27,198,600 (GRCm39) |
G1311C |
probably damaging |
Het |
| Tmem102 |
A |
G |
11: 69,695,171 (GRCm39) |
V267A |
probably damaging |
Het |
| Trim65 |
A |
G |
11: 116,021,755 (GRCm39) |
L26P |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,571,379 (GRCm39) |
M244K |
possibly damaging |
Het |
| Vmn1r57 |
A |
T |
7: 5,224,138 (GRCm39) |
H221L |
probably benign |
Het |
| Wdr89 |
C |
A |
12: 75,679,673 (GRCm39) |
V194F |
probably damaging |
Het |
| Wee1 |
C |
A |
7: 109,730,085 (GRCm39) |
Y396* |
probably null |
Het |
| Zfp451 |
A |
T |
1: 33,812,060 (GRCm39) |
V885D |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,622,333 (GRCm39) |
Q419H |
probably benign |
Het |
| Znfx1 |
A |
G |
2: 166,881,747 (GRCm39) |
Y1081H |
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 |
|
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'- GCGTCAACACCATCATTCTGG -3'
(R):5'- TGCTGTGCCTTGGGAGAAAG -3'
Sequencing Primer
(F):5'- CCATCATTCTGGTTAGGCAAATTTGG -3'
(R):5'- CCTTGGGAGAAAGCTAAGTTTTCCTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation