Incidental Mutation 'R7267:Runx2'
ID |
565034 |
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) |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7267 (G1)
|
Quality Score |
221.999 |
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: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,916,205 (GRCm39) |
I37T |
probably damaging |
Het |
Ackr2 |
A |
G |
9: 121,737,874 (GRCm39) |
Y83C |
probably damaging |
Het |
Adam19 |
C |
T |
11: 46,012,403 (GRCm39) |
Q300* |
probably null |
Het |
Anxa7 |
C |
T |
14: 20,519,474 (GRCm39) |
A115T |
probably benign |
Het |
Aoc1l3 |
AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC |
AGGCCCAGCC |
6: 48,964,952 (GRCm39) |
|
probably benign |
Het |
Atad2b |
A |
T |
12: 5,077,105 (GRCm39) |
R1109* |
probably null |
Het |
Batf2 |
A |
G |
19: 6,221,396 (GRCm39) |
T69A |
probably benign |
Het |
Best1 |
A |
G |
19: 9,964,177 (GRCm39) |
C428R |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,892,980 (GRCm39) |
T973A |
probably benign |
Het |
Bmp2k |
C |
T |
5: 97,216,293 (GRCm39) |
T597I |
unknown |
Het |
Bmpr1a |
G |
A |
14: 34,165,836 (GRCm39) |
P57L |
possibly damaging |
Het |
Camk2d |
A |
T |
3: 126,591,379 (GRCm39) |
H283L |
possibly damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Ces1b |
C |
A |
8: 93,806,132 (GRCm39) |
K36N |
possibly damaging |
Het |
Ces2a |
T |
A |
8: 105,465,672 (GRCm39) |
M308K |
probably benign |
Het |
Ctnnd2 |
C |
A |
15: 30,683,501 (GRCm39) |
Q501K |
probably benign |
Het |
Cyb561d1 |
T |
C |
3: 108,106,629 (GRCm39) |
T197A |
probably benign |
Het |
Dedd2 |
C |
A |
7: 24,918,391 (GRCm39) |
A55S |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,391,643 (GRCm39) |
R684Q |
probably damaging |
Het |
Elovl3 |
A |
G |
19: 46,122,979 (GRCm39) |
Y185C |
probably damaging |
Het |
Fgf3 |
C |
T |
7: 144,392,569 (GRCm39) |
A42V |
probably damaging |
Het |
Gabra5 |
A |
G |
7: 57,140,529 (GRCm39) |
L56P |
probably damaging |
Het |
Gm19410 |
T |
G |
8: 36,281,997 (GRCm39) |
V1860G |
possibly damaging |
Het |
Gm21663 |
G |
T |
5: 26,143,751 (GRCm39) |
N190K |
probably damaging |
Het |
Grm3 |
T |
A |
5: 9,639,581 (GRCm39) |
I155L |
probably benign |
Het |
Hadha |
A |
G |
5: 30,327,755 (GRCm39) |
I495T |
probably damaging |
Het |
Herc4 |
C |
T |
10: 63,109,365 (GRCm39) |
A200V |
possibly damaging |
Het |
Itga3 |
C |
A |
11: 94,967,188 (GRCm39) |
|
probably benign |
Het |
Krt6a |
C |
T |
15: 101,602,289 (GRCm39) |
S132N |
probably benign |
Het |
Lpar1 |
T |
C |
4: 58,486,857 (GRCm39) |
N138S |
possibly damaging |
Het |
Lrrc42 |
T |
A |
4: 107,096,983 (GRCm39) |
T247S |
probably damaging |
Het |
Man2b1 |
T |
A |
8: 85,813,804 (GRCm39) |
V256E |
probably damaging |
Het |
Map3k4 |
G |
T |
17: 12,490,536 (GRCm39) |
Y298* |
probably null |
Het |
Mars1 |
A |
G |
10: 127,144,455 (GRCm39) |
V195A |
probably benign |
Het |
Mdm4 |
A |
T |
1: 132,922,311 (GRCm39) |
V278E |
probably benign |
Het |
Mdp1 |
A |
G |
14: 55,897,544 (GRCm39) |
V37A |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,199,652 (GRCm39) |
I685T |
probably benign |
Het |
Mobp |
A |
G |
9: 119,996,914 (GRCm39) |
N15S |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,979,320 (GRCm39) |
M435K |
probably benign |
Het |
Nfs1 |
A |
G |
2: 155,965,703 (GRCm39) |
V126A |
probably benign |
Het |
Npepl1 |
T |
A |
2: 173,963,909 (GRCm39) |
V480E |
probably damaging |
Het |
Nr2e3 |
G |
A |
9: 59,855,972 (GRCm39) |
S155F |
possibly damaging |
Het |
Oplah |
T |
C |
15: 76,189,209 (GRCm39) |
D278G |
probably benign |
Het |
Or4c124 |
A |
T |
2: 89,156,157 (GRCm39) |
Y122* |
probably null |
Het |
Or51q1c |
A |
G |
7: 103,653,046 (GRCm39) |
H188R |
probably benign |
Het |
Pard3 |
T |
C |
8: 128,098,056 (GRCm39) |
Y366H |
probably damaging |
Het |
Pcdhb11 |
A |
G |
18: 37,555,006 (GRCm39) |
N112S |
possibly damaging |
Het |
Pde11a |
A |
G |
2: 76,168,189 (GRCm39) |
S255P |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,224,268 (GRCm39) |
H745R |
|
Het |
Pkn2 |
A |
T |
3: 142,517,776 (GRCm39) |
S441T |
possibly damaging |
Het |
Pld1 |
A |
C |
3: 28,130,550 (GRCm39) |
H450P |
probably damaging |
Het |
Plekhs1 |
T |
A |
19: 56,459,209 (GRCm39) |
H22Q |
probably damaging |
Het |
Prss44 |
A |
C |
9: 110,645,611 (GRCm39) |
Y285S |
probably damaging |
Het |
Qpctl |
T |
C |
7: 18,878,852 (GRCm39) |
E249G |
probably benign |
Het |
Rcsd1 |
A |
T |
1: 165,491,185 (GRCm39) |
S50T |
probably damaging |
Het |
Scube1 |
T |
A |
15: 83,505,266 (GRCm39) |
N496Y |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,328,196 (GRCm39) |
M1415V |
probably benign |
Het |
Slc16a8 |
AGGCC |
A |
15: 79,136,125 (GRCm39) |
|
probably null |
Het |
Slc38a4 |
T |
A |
15: 96,903,781 (GRCm39) |
T407S |
probably benign |
Het |
Slc51a |
T |
G |
16: 32,298,590 (GRCm39) |
I56L |
probably benign |
Het |
Slc6a18 |
T |
G |
13: 73,819,755 (GRCm39) |
I272L |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 42,035,375 (GRCm39) |
L12P |
possibly damaging |
Het |
Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
Syne1 |
C |
T |
10: 5,178,218 (GRCm39) |
R4752Q |
probably damaging |
Het |
Tbc1d9 |
C |
A |
8: 83,997,957 (GRCm39) |
H1171Q |
probably damaging |
Het |
Thsd1 |
G |
A |
8: 22,733,597 (GRCm39) |
V215I |
probably benign |
Het |
Tmem143 |
T |
A |
7: 45,557,598 (GRCm39) |
M208K |
probably benign |
Het |
Tmem63b |
C |
T |
17: 45,977,048 (GRCm39) |
V440I |
probably benign |
Het |
Tnik |
A |
T |
3: 28,700,776 (GRCm39) |
S918C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,733,751 (GRCm39) |
I4508T |
unknown |
Het |
Vav2 |
A |
G |
2: 27,173,334 (GRCm39) |
F497L |
probably damaging |
Het |
Zc3h14 |
G |
A |
12: 98,751,988 (GRCm39) |
R730Q |
probably damaging |
Het |
Zfp560 |
G |
A |
9: 20,259,384 (GRCm39) |
H493Y |
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 |
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'- AGTTAGTTACACATGCCAAGTGC -3'
(R):5'- CTAACCACAGTCCATGCAGG -3'
Sequencing Primer
(F):5'- GACCTAGGAAAGCTCACA -3'
(R):5'- CCATGCAGGAATAGTAGGTCCTTC -3'
|
Posted On |
2019-06-26 |