Incidental Mutation 'R8806:Runx2'
| ID |
672101 |
| 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 |
068612-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8806 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44806873-45125518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44950570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 410
(V410L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123743
(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
AA Change: V342L
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
AA Change: V342L
| 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: V328L
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109202
Gene: ENSMUSG00000039153
AA Change: V328L
| 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
AA Change: V342L
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
AA Change: V342L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000125196
Gene: ENSMUSG00000039153
AA Change: V146L
| 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
AA Change: V410L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: V410L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124199
Gene: ENSMUSG00000039153
AA Change: V180L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Runt
|
6 |
135 |
8e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162373
AA Change: V328L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124494
Gene: ENSMUSG00000039153
AA Change: V328L
| 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
AA Change: V342L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
AA Change: V342L
| 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
AA Change: V270L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000125498
Gene: ENSMUSG00000039153
AA Change: V270L
| 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: V235L
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123707
Gene: ENSMUSG00000039153
AA Change: V235L
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,084,520 (GRCm39) |
M586V |
probably benign |
Het |
| Adam6b |
G |
A |
12: 113,455,418 (GRCm39) |
R745H |
possibly damaging |
Het |
| Afg3l1 |
A |
G |
8: 124,220,657 (GRCm39) |
D462G |
probably damaging |
Het |
| Anapc1 |
T |
A |
2: 128,464,333 (GRCm39) |
Q1721L |
possibly damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,665,107 (GRCm39) |
Y497C |
possibly damaging |
Het |
| Bcl7b |
T |
G |
5: 135,208,824 (GRCm39) |
S96A |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,949,311 (GRCm39) |
V3111A |
probably damaging |
Het |
| Cbx1 |
A |
G |
11: 96,692,383 (GRCm39) |
D90G |
possibly damaging |
Het |
| Cdkl3 |
T |
C |
11: 51,923,295 (GRCm39) |
F524S |
possibly damaging |
Het |
| Cops7b |
G |
A |
1: 86,517,031 (GRCm39) |
G44R |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,083,618 (GRCm39) |
S1028G |
probably benign |
Het |
| Decr1 |
T |
A |
4: 15,945,351 (GRCm39) |
M1L |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,852,388 (GRCm39) |
I167V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,750,309 (GRCm39) |
L3932P |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,672,452 (GRCm39) |
I365N |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,928,695 (GRCm39) |
M4815K |
probably benign |
Het |
| Exo5 |
T |
C |
4: 120,779,602 (GRCm39) |
T88A |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,390,064 (GRCm39) |
Y1772H |
probably benign |
Het |
| Gm5160 |
A |
G |
18: 14,557,931 (GRCm39) |
N3D |
possibly damaging |
Het |
| Gm7138 |
T |
A |
10: 77,612,717 (GRCm39) |
D21V |
unknown |
Het |
| Gm7298 |
C |
A |
6: 121,761,641 (GRCm39) |
|
silent |
Het |
| Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
| Islr |
C |
A |
9: 58,064,256 (GRCm39) |
G417V |
unknown |
Het |
| Kif13a |
A |
T |
13: 46,914,813 (GRCm39) |
M1458K |
possibly damaging |
Het |
| Mcm7 |
T |
C |
5: 138,163,347 (GRCm39) |
D642G |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,595,970 (GRCm39) |
I941N |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,976 (GRCm39) |
P216S |
possibly damaging |
Het |
| Myo5c |
T |
A |
9: 75,150,054 (GRCm39) |
V13D |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,965,551 (GRCm39) |
I1200K |
possibly damaging |
Het |
| Naip6 |
G |
A |
13: 100,437,161 (GRCm39) |
T454M |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,295,213 (GRCm39) |
Y877C |
probably damaging |
Het |
| Nolc1 |
C |
A |
19: 46,071,471 (GRCm39) |
S473R |
unknown |
Het |
| Nop16 |
A |
C |
13: 54,737,672 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,969,092 (GRCm39) |
I959T |
probably damaging |
Het |
| Nup88 |
T |
G |
11: 70,834,941 (GRCm39) |
K692N |
probably benign |
Het |
| Nvl |
C |
A |
1: 180,922,619 (GRCm39) |
G818V |
probably benign |
Het |
| Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
| Or4k6 |
T |
A |
14: 50,475,376 (GRCm39) |
E322V |
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,519,236 (GRCm39) |
I158T |
probably benign |
Het |
| Or4s2b |
T |
C |
2: 88,508,955 (GRCm39) |
V245A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,506,405 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k1 |
T |
C |
2: 86,047,200 (GRCm39) |
I285V |
probably damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,635,140 (GRCm39) |
S1362L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,694,114 (GRCm39) |
A696V |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,243,515 (GRCm39) |
Y62C |
probably damaging |
Het |
| Rnf135 |
A |
G |
11: 80,089,762 (GRCm39) |
D366G |
probably damaging |
Het |
| Rrp8 |
A |
G |
7: 105,384,244 (GRCm39) |
L86P |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,445 (GRCm39) |
V452A |
probably damaging |
Het |
| Samd9l |
T |
C |
6: 3,376,665 (GRCm39) |
T199A |
probably damaging |
Het |
| Sik3 |
T |
C |
9: 46,120,365 (GRCm39) |
S745P |
probably damaging |
Het |
| Slc35e1 |
T |
A |
8: 73,241,973 (GRCm39) |
S250C |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,537,698 (GRCm39) |
F160S |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,261 (GRCm39) |
D198G |
probably benign |
Het |
| Stim2 |
T |
A |
5: 54,156,257 (GRCm39) |
V11E |
probably benign |
Het |
| Tektl1 |
A |
G |
10: 78,588,306 (GRCm39) |
V168A |
probably damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,524,318 (GRCm39) |
S151P |
probably damaging |
Het |
| Trim34b |
A |
T |
7: 103,985,319 (GRCm39) |
D318V |
probably damaging |
Het |
| Ubtd1 |
T |
C |
19: 42,022,195 (GRCm39) |
S156P |
probably damaging |
Het |
| Usp34 |
C |
A |
11: 23,434,143 (GRCm39) |
L3240M |
|
Het |
| Vmn1r56 |
T |
C |
7: 5,198,805 (GRCm39) |
S271G |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,472,212 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,853,110 (GRCm39) |
F2401S |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,802,637 (GRCm39) |
V216I |
probably damaging |
Het |
| Zfp931 |
T |
C |
2: 177,709,589 (GRCm39) |
T266A |
possibly damaging |
Het |
| Zfp956 |
A |
G |
6: 47,933,042 (GRCm39) |
M106V |
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 |
|
R8474:Runx2
|
UTSW |
17 |
44,919,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CGGGCAGATTTTCATCTCTTGAG -3'
(R):5'- GGACTACTGAAAGGGTTTTGCG -3'
Sequencing Primer
(F):5'- CAAGCGTTTGATAGCCCCGTAAATG -3'
(R):5'- CTACTGAAAGGGTTTTGCGTTTCATC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation