Incidental Mutation 'R7175:Runx2'
| ID |
558578 |
| 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 |
045231-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44806873-45125518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45125079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 80
(P80L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050630]
[ENSMUST00000113568]
[ENSMUST00000113571]
[ENSMUST00000127798]
[ENSMUST00000129416]
[ENSMUST00000159943]
[ENSMUST00000162629]
[ENSMUST00000160673]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050630
|
| SMART Domains |
Protein: ENSMUSP00000050783
Gene: ENSMUSG00000038954
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Pfam:TFIID-18kDa
|
24 |
116 |
4.5e-38 |
PFAM |
|
low complexity region
|
274 |
294 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113568
AA Change: P80L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113571
AA Change: P12L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109201
Gene: ENSMUSG00000039153
AA Change: P12L
| 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: ENSMUST00000127798
|
| SMART Domains |
Protein: ENSMUSP00000121148
Gene: ENSMUSG00000038954
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Pfam:TFIID-18kDa
|
24 |
116 |
9.3e-39 |
PFAM |
|
low complexity region
|
274 |
294 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129416
|
| SMART Domains |
Protein: ENSMUSP00000120197
Gene: ENSMUSG00000038954
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIID-18kDa
|
17 |
109 |
1e-38 |
PFAM |
|
low complexity region
|
267 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130623
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159943
AA Change: P12L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124918
Gene: ENSMUSG00000039153
AA Change: P12L
| 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 |
noncoding transcript
Transcript: ENSMUST00000161489
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162629
AA Change: P12L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124374
Gene: ENSMUSG00000039153
AA Change: P12L
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160673
AA Change: P80L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: P80L
| 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 |
0.1963 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,831,611 (GRCm39) |
T1247I |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,108,869 (GRCm39) |
L1479P |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,210,534 (GRCm39) |
R363G |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,740,590 (GRCm39) |
S1765T |
unknown |
Het |
| Anks6 |
T |
C |
4: 47,046,268 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
C |
12: 8,057,034 (GRCm39) |
I1839L |
probably benign |
Het |
| Bdp1 |
C |
A |
13: 100,186,478 (GRCm39) |
R1658I |
probably damaging |
Het |
| Ccs |
T |
A |
19: 4,883,390 (GRCm39) |
D136V |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,220,578 (GRCm39) |
|
probably null |
Het |
| Cirbp |
T |
C |
10: 80,006,297 (GRCm39) |
S130P |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,317,927 (GRCm39) |
I199T |
probably benign |
Het |
| Csn3 |
C |
T |
5: 88,077,586 (GRCm39) |
R31C |
probably damaging |
Het |
| Dcaf1 |
A |
T |
9: 106,735,775 (GRCm39) |
I908F |
probably benign |
Het |
| Dhcr7 |
C |
T |
7: 143,399,227 (GRCm39) |
T199I |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 66,024,463 (GRCm39) |
Q277L |
probably benign |
Het |
| Echdc2 |
C |
A |
4: 108,031,366 (GRCm39) |
P237T |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,838,237 (GRCm39) |
V3625A |
unknown |
Het |
| Eif4g3 |
A |
G |
4: 137,853,526 (GRCm39) |
N364S |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,734,231 (GRCm39) |
I1170L |
probably benign |
Het |
| Epha3 |
C |
T |
16: 63,403,863 (GRCm39) |
R746Q |
probably damaging |
Het |
| Exosc5 |
G |
A |
7: 25,363,794 (GRCm39) |
C102Y |
probably damaging |
Het |
| Fam91a1 |
A |
T |
15: 58,302,527 (GRCm39) |
Y289F |
probably benign |
Het |
| Fbxo38 |
A |
C |
18: 62,648,544 (GRCm39) |
F665V |
probably benign |
Het |
| Fcrl5 |
T |
C |
3: 87,353,645 (GRCm39) |
V330A |
probably benign |
Het |
| Fer |
T |
A |
17: 64,231,090 (GRCm39) |
D280E |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,373,113 (GRCm39) |
H16R |
probably benign |
Het |
| Gzmg |
C |
T |
14: 56,396,979 (GRCm39) |
M1I |
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,411,692 (GRCm39) |
A456V |
possibly damaging |
Het |
| Hk2 |
T |
A |
6: 82,711,830 (GRCm39) |
Q613L |
probably benign |
Het |
| Inhca |
A |
G |
9: 103,128,988 (GRCm39) |
|
probably null |
Het |
| Itsn1 |
T |
C |
16: 91,664,938 (GRCm39) |
F1121L |
unknown |
Het |
| Lztr1 |
G |
T |
16: 17,340,895 (GRCm39) |
C557F |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,694,634 (GRCm39) |
Y1119C |
probably damaging |
Het |
| Nfkb1 |
A |
T |
3: 135,319,751 (GRCm39) |
L248Q |
probably damaging |
Het |
| Or1a1 |
T |
A |
11: 74,087,004 (GRCm39) |
L225* |
probably null |
Het |
| Or1p1b |
T |
C |
11: 74,130,803 (GRCm39) |
F138L |
probably benign |
Het |
| Or2g7 |
T |
A |
17: 38,378,370 (GRCm39) |
S103T |
probably damaging |
Het |
| Or52e19 |
T |
C |
7: 102,959,054 (GRCm39) |
V42A |
probably benign |
Het |
| Otulinl |
A |
C |
15: 27,658,374 (GRCm39) |
D165E |
probably damaging |
Het |
| Pate1 |
T |
G |
9: 35,596,408 (GRCm39) |
D119A |
probably damaging |
Het |
| Pcdhgc4 |
T |
C |
18: 37,949,424 (GRCm39) |
V280A |
possibly damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,275,929 (GRCm39) |
D717G |
probably damaging |
Het |
| Prdm13 |
A |
T |
4: 21,679,473 (GRCm39) |
L339Q |
unknown |
Het |
| Rasgrf1 |
T |
A |
9: 89,862,802 (GRCm39) |
N519K |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,473,533 (GRCm39) |
V39A |
probably benign |
Het |
| Sema4b |
T |
A |
7: 79,848,402 (GRCm39) |
M1K |
probably null |
Het |
| Slc20a1 |
T |
G |
2: 129,052,662 (GRCm39) |
L648R |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,122,583 (GRCm39) |
S3476C |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,399,134 (GRCm39) |
T2194A |
probably benign |
Het |
| Spns1 |
T |
C |
7: 125,972,961 (GRCm39) |
D215G |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,429,071 (GRCm39) |
V717E |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,382,151 (GRCm39) |
M1K |
probably null |
Het |
| Trpa1 |
A |
G |
1: 14,963,431 (GRCm39) |
V597A |
possibly damaging |
Het |
| Usp13 |
C |
T |
3: 32,971,757 (GRCm39) |
Q746* |
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,655,906 (GRCm39) |
W255R |
probably benign |
Het |
| Vps35 |
A |
T |
8: 85,990,189 (GRCm39) |
|
probably null |
Het |
| Vps54 |
T |
C |
11: 21,265,028 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
T |
A |
17: 46,697,774 (GRCm39) |
L210Q |
probably damaging |
Het |
| Zfp319 |
C |
A |
8: 96,055,410 (GRCm39) |
K264N |
probably damaging |
Het |
| Zfp62 |
C |
T |
11: 49,107,580 (GRCm39) |
S557L |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,357,239 (GRCm39) |
S822P |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,346,645 (GRCm39) |
D2G |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,742,727 (GRCm39) |
I769T |
possibly 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 |
|
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'- CCCGAGAGTTAGTTACACATGC -3'
(R):5'- TCTAACCACAGTCCATGCAGG -3'
Sequencing Primer
(F):5'- GAGTTAGTTACACATGCCAAGTGC -3'
(R):5'- CCATGCAGGAATAGTAGGTCCTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation