Incidental Mutation 'R7176:Runx2'
ID |
558648 |
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 |
045267-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7176 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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]
[ENSMUST00000162629]
[ENSMUST00000160673]
[ENSMUST00000159943]
|
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 |
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 |
|
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 |
|
Meta Mutation Damage Score |
0.1963 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
G |
T |
17: 46,635,203 (GRCm39) |
H267N |
probably benign |
Het |
Abtb2 |
A |
G |
2: 103,539,720 (GRCm39) |
D695G |
probably benign |
Het |
Adam21 |
C |
T |
12: 81,607,022 (GRCm39) |
D247N |
possibly damaging |
Het |
Adnp |
T |
C |
2: 168,024,578 (GRCm39) |
N906D |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,416,594 (GRCm39) |
H1079Q |
probably damaging |
Het |
Aqp3 |
T |
A |
4: 41,095,202 (GRCm39) |
N60Y |
probably damaging |
Het |
Art4 |
T |
G |
6: 136,834,166 (GRCm39) |
T26P |
probably benign |
Het |
Arvcf |
T |
C |
16: 18,218,477 (GRCm39) |
L553P |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,243,908 (GRCm39) |
I1487N |
probably damaging |
Het |
Capn3 |
A |
T |
2: 120,334,973 (GRCm39) |
Y820F |
possibly damaging |
Het |
Catip |
A |
G |
1: 74,401,941 (GRCm39) |
T39A |
probably damaging |
Het |
Ccdc168 |
A |
T |
1: 44,099,506 (GRCm39) |
S531T |
probably benign |
Het |
Ccdc18 |
T |
A |
5: 108,315,972 (GRCm39) |
C481S |
probably benign |
Het |
Ccnf |
A |
G |
17: 24,468,376 (GRCm39) |
I7T |
possibly damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Cdkl4 |
A |
T |
17: 80,851,221 (GRCm39) |
Y160* |
probably null |
Het |
Celsr3 |
C |
T |
9: 108,722,961 (GRCm39) |
P2783S |
probably benign |
Het |
Cisd3 |
A |
T |
11: 97,576,959 (GRCm39) |
D11V |
probably benign |
Het |
Daxx |
A |
T |
17: 34,132,292 (GRCm39) |
H512L |
unknown |
Het |
Dip2b |
A |
G |
15: 100,067,199 (GRCm39) |
H567R |
probably damaging |
Het |
Dnah7c |
C |
A |
1: 46,469,969 (GRCm39) |
A18E |
probably benign |
Het |
Eif3d |
A |
T |
15: 77,847,434 (GRCm39) |
V268D |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 53,004,162 (GRCm39) |
M625V |
unknown |
Het |
Foxn1 |
T |
C |
11: 78,251,693 (GRCm39) |
R513G |
possibly damaging |
Het |
Gemin5 |
C |
T |
11: 58,056,828 (GRCm39) |
V134I |
probably benign |
Het |
Gtf2h3 |
A |
G |
5: 124,728,433 (GRCm39) |
R161G |
probably damaging |
Het |
Ice1 |
A |
G |
13: 70,772,525 (GRCm39) |
|
probably null |
Het |
Il1rl1 |
T |
C |
1: 40,485,766 (GRCm39) |
Y306H |
probably damaging |
Het |
Kbtbd7 |
A |
T |
14: 79,665,194 (GRCm39) |
E342V |
possibly damaging |
Het |
Kyat3 |
A |
T |
3: 142,443,600 (GRCm39) |
K404N |
possibly damaging |
Het |
Lins1 |
T |
C |
7: 66,363,553 (GRCm39) |
W483R |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,723,207 (GRCm39) |
I194T |
possibly damaging |
Het |
Mcm8 |
G |
T |
2: 132,661,992 (GRCm39) |
A137S |
probably benign |
Het |
Mdm1 |
C |
A |
10: 117,978,770 (GRCm39) |
Q12K |
probably damaging |
Het |
Mrgprb5 |
C |
A |
7: 47,818,059 (GRCm39) |
L225F |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,033,690 (GRCm39) |
H1068L |
|
Het |
Ngef |
A |
T |
1: 87,408,417 (GRCm39) |
V550E |
possibly damaging |
Het |
Nrg1 |
G |
A |
8: 32,458,064 (GRCm39) |
Q84* |
probably null |
Het |
Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
Ocln |
C |
A |
13: 100,651,590 (GRCm39) |
G327C |
probably damaging |
Het |
Ocln |
A |
C |
13: 100,651,591 (GRCm39) |
N326K |
probably benign |
Het |
Or10ag55-ps1 |
C |
T |
2: 87,115,378 (GRCm39) |
A248V |
probably damaging |
Het |
Otogl |
T |
C |
10: 107,614,772 (GRCm39) |
D1960G |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,987,331 (GRCm39) |
D530G |
possibly damaging |
Het |
Plod1 |
A |
T |
4: 147,997,744 (GRCm39) |
M655K |
probably benign |
Het |
Ppp4r3b |
A |
G |
11: 29,148,904 (GRCm39) |
N449D |
probably damaging |
Het |
Ppp6r3 |
G |
T |
19: 3,521,989 (GRCm39) |
T563K |
probably damaging |
Het |
Prepl |
T |
A |
17: 85,376,454 (GRCm39) |
L533F |
probably benign |
Het |
Rbl1 |
G |
A |
2: 157,030,245 (GRCm39) |
R421W |
probably damaging |
Het |
Rrp15 |
G |
A |
1: 186,453,730 (GRCm39) |
S239L |
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,530,944 (GRCm39) |
S815P |
probably benign |
Het |
Scn7a |
G |
A |
2: 66,506,632 (GRCm39) |
T1419I |
probably damaging |
Het |
Setdb1 |
A |
G |
3: 95,244,458 (GRCm39) |
|
probably null |
Het |
Shpk |
A |
G |
11: 73,113,814 (GRCm39) |
H409R |
probably benign |
Het |
Slamf6 |
A |
C |
1: 171,761,858 (GRCm39) |
N93T |
probably benign |
Het |
Slc27a4 |
A |
G |
2: 29,701,238 (GRCm39) |
N343S |
probably benign |
Het |
Slc35g1 |
T |
A |
19: 38,391,771 (GRCm39) |
V351E |
probably damaging |
Het |
Smcr8 |
A |
T |
11: 60,669,772 (GRCm39) |
I307F |
probably damaging |
Het |
Spats2l |
T |
C |
1: 57,977,077 (GRCm39) |
I305T |
possibly damaging |
Het |
Speer4c1 |
T |
C |
5: 15,916,536 (GRCm39) |
T144A |
probably benign |
Het |
Tbl3 |
G |
A |
17: 24,919,732 (GRCm39) |
T774I |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,269,925 (GRCm39) |
H1724R |
probably benign |
Het |
Vcan |
A |
G |
13: 89,837,055 (GRCm39) |
S2830P |
probably benign |
Het |
Vmn2r27 |
T |
A |
6: 124,168,995 (GRCm39) |
I712F |
probably benign |
Het |
Wdr59 |
T |
G |
8: 112,219,388 (GRCm39) |
Q223P |
|
Het |
Zfp28 |
T |
A |
7: 6,386,456 (GRCm39) |
C22S |
possibly damaging |
Het |
Zfp536 |
T |
G |
7: 37,180,276 (GRCm39) |
|
probably null |
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 |
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'- CCGAGAGTTAGTTACACATGCC -3'
(R):5'- CTAACCACAGTCCATGCAGG -3'
Sequencing Primer
(F):5'- GAGTTAGTTACACATGCCAAGTGC -3'
(R):5'- CCATGCAGGAATAGTAGGTCCTTC -3'
|
Posted On |
2019-06-26 |