Incidental Mutation 'R6875:Runx2'
| ID |
536401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Runx2
|
| Ensembl Gene |
ENSMUSG00000039153 |
| Gene Name |
runt related transcription factor 2 |
| Synonyms |
polyomavirus enhancer binding factor 2 (PEBP2), Pebpa2a, AML3, Osf2, PEBP2aA, PEBP2 alpha A, Cbfa1, SL3-3 enhancer factor 1 |
| MMRRC Submission |
044971-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44495987-44814797 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44814192 bp (GRCm38)
|
| 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]
[ENSMUST00000160673]
[ENSMUST00000162629]
|
| 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 |
|
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.1963 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (58/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
T |
C |
15: 12,812,068 (GRCm38) |
H270R |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,701,628 (GRCm38) |
I336T |
probably benign |
Het |
| Adam19 |
T |
A |
11: 46,112,875 (GRCm38) |
F177I |
probably benign |
Het |
| Ankrd53 |
T |
C |
6: 83,768,173 (GRCm38) |
V455A |
probably damaging |
Het |
| Arrdc1 |
A |
G |
2: 24,925,665 (GRCm38) |
S415P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,797,352 (GRCm38) |
L614P |
probably benign |
Het |
| C130060K24Rik |
A |
T |
6: 65,456,336 (GRCm38) |
N380I |
probably benign |
Het |
| Catsper1 |
G |
T |
19: 5,343,963 (GRCm38) |
V668F |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,661,918 (GRCm38) |
D596E |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,615,107 (GRCm38) |
S407P |
probably benign |
Het |
| Commd6 |
T |
C |
14: 101,634,350 (GRCm38) |
T86A |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,604,657 (GRCm38) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 79,085,560 (GRCm38) |
D252G |
probably damaging |
Het |
| Epha2 |
A |
T |
4: 141,328,468 (GRCm38) |
S962C |
probably damaging |
Het |
| Fcho1 |
C |
A |
8: 71,714,425 (GRCm38) |
|
probably null |
Het |
| Fgf23 |
G |
T |
6: 127,073,216 (GRCm38) |
G63C |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,445,749 (GRCm38) |
Y834F |
probably damaging |
Het |
| Gcn1l1 |
T |
C |
5: 115,588,110 (GRCm38) |
L608P |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,202,276 (GRCm38) |
E545V |
probably damaging |
Het |
| Hecw2 |
A |
T |
1: 53,937,132 (GRCm38) |
M166K |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 22,665,893 (GRCm38) |
D586G |
probably damaging |
Het |
| Il1f9 |
G |
C |
2: 24,188,621 (GRCm38) |
|
probably null |
Het |
| Ipo13 |
A |
T |
4: 117,904,911 (GRCm38) |
I422N |
possibly damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,112,771 (GRCm38) |
|
probably null |
Het |
| Kat6a |
G |
A |
8: 22,932,361 (GRCm38) |
A896T |
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,735,994 (GRCm38) |
I139T |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,866,342 (GRCm38) |
E332G |
probably damaging |
Het |
| Krt8 |
C |
T |
15: 101,997,908 (GRCm38) |
A389T |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,784,106 (GRCm38) |
S175G |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,809,744 (GRCm38) |
|
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,805,659 (GRCm38) |
Y1709H |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 126,023,194 (GRCm38) |
S1519P |
probably benign |
Het |
| Npnt |
T |
A |
3: 132,909,910 (GRCm38) |
D124V |
probably damaging |
Het |
| Nr1d1 |
A |
T |
11: 98,770,836 (GRCm38) |
|
probably null |
Het |
| Ogdh |
A |
G |
11: 6,340,477 (GRCm38) |
Y365C |
probably benign |
Het |
| Olfr1305 |
A |
T |
2: 111,872,961 (GRCm38) |
I298N |
possibly damaging |
Het |
| Phf21b |
A |
T |
15: 84,787,446 (GRCm38) |
C416S |
probably damaging |
Het |
| Prpsap1 |
A |
G |
11: 116,471,438 (GRCm38) |
S373P |
probably damaging |
Het |
| Rab28 |
T |
C |
5: 41,703,534 (GRCm38) |
T26A |
probably damaging |
Het |
| Rbbp8nl |
A |
G |
2: 180,279,226 (GRCm38) |
I455T |
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,228,818 (GRCm38) |
A285V |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,672,371 (GRCm38) |
Q106K |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,486,644 (GRCm38) |
L1666P |
probably damaging |
Het |
| Siglecf |
A |
C |
7: 43,355,200 (GRCm38) |
T318P |
probably benign |
Het |
| Slc22a1 |
C |
T |
17: 12,667,305 (GRCm38) |
W147* |
probably null |
Het |
| Smchd1 |
T |
C |
17: 71,353,506 (GRCm38) |
I1868V |
probably damaging |
Het |
| Snx21 |
A |
G |
2: 164,791,902 (GRCm38) |
S203G |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,482,831 (GRCm38) |
K792R |
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,673 (GRCm38) |
F100S |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,697,436 (GRCm38) |
M1391I |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,035,630 (GRCm38) |
E119G |
probably damaging |
Het |
| Syt11 |
G |
T |
3: 88,762,155 (GRCm38) |
S143R |
possibly damaging |
Het |
| Tiparp |
T |
A |
3: 65,531,642 (GRCm38) |
H126Q |
probably benign |
Het |
| Tulp2 |
C |
A |
7: 45,518,614 (GRCm38) |
T150K |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,242,429 (GRCm38) |
Y386F |
probably benign |
Het |
| Usp31 |
C |
T |
7: 121,649,640 (GRCm38) |
W860* |
probably null |
Het |
| Zfp317 |
A |
G |
9: 19,643,665 (GRCm38) |
R30G |
probably damaging |
Het |
| Zfp709 |
C |
A |
8: 71,889,007 (GRCm38) |
N93K |
possibly damaging |
Het |
|
| Other mutations in Runx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02020:Runx2
|
APN |
17 |
44,658,599 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02029:Runx2
|
APN |
17 |
44,658,687 (GRCm38) |
nonsense |
probably null |
|
|
IGL02084:Runx2
|
APN |
17 |
44,724,829 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0040:Runx2
|
UTSW |
17 |
44,608,254 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0627:Runx2
|
UTSW |
17 |
44,658,505 (GRCm38) |
intron |
probably benign |
|
|
R0944:Runx2
|
UTSW |
17 |
44,608,236 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1514:Runx2
|
UTSW |
17 |
44,735,337 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R2069:Runx2
|
UTSW |
17 |
44,735,342 (GRCm38) |
missense |
probably benign |
0.19 |
|
R3976:Runx2
|
UTSW |
17 |
44,610,079 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4686:Runx2
|
UTSW |
17 |
44,639,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4911:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5241:Runx2
|
UTSW |
17 |
44,639,777 (GRCm38) |
nonsense |
probably null |
|
|
R5526:Runx2
|
UTSW |
17 |
44,724,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6566:Runx2
|
UTSW |
17 |
44,814,488 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6874:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6980:Runx2
|
UTSW |
17 |
44,735,316 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7008:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7009:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7057:Runx2
|
UTSW |
17 |
44,814,537 (GRCm38) |
missense |
probably null |
|
|
R7085:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7175:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7176:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7177:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7181:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7231:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7232:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7254:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7267:Runx2
|
UTSW |
17 |
44,814,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7835:Runx2
|
UTSW |
17 |
44,608,236 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7949:Runx2
|
UTSW |
17 |
44,735,555 (GRCm38) |
missense |
possibly damaging |
0.45 |
|
R8474:Runx2
|
UTSW |
17 |
44,608,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8806:Runx2
|
UTSW |
17 |
44,639,683 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8913:Runx2
|
UTSW |
17 |
44,608,282 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9092:Runx2
|
UTSW |
17 |
44,735,556 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9158:Runx2
|
UTSW |
17 |
44,735,621 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9250:Runx2
|
UTSW |
17 |
44,814,572 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9615:Runx2
|
UTSW |
17 |
44,658,673 (GRCm38) |
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 |
2018-10-18 |
Incidental Mutation