Incidental Mutation 'R7177:Runx2'
| ID |
558727 |
| 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 |
045268-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7177 (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]
[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: 99.9%
- 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
T |
C |
9: 53,325,685 (GRCm39) |
L74S |
probably damaging |
Het |
| 5730409E04Rik |
A |
G |
4: 126,505,525 (GRCm39) |
S18G |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,325,659 (GRCm39) |
I265T |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,297,466 (GRCm39) |
S896L |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,318,822 (GRCm39) |
I571T |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,186,478 (GRCm39) |
R1658I |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,458,323 (GRCm39) |
T7M |
unknown |
Het |
| Ccdc183 |
A |
G |
2: 25,506,296 (GRCm39) |
V100A |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Ceacam2 |
T |
G |
7: 25,220,341 (GRCm39) |
D239A |
probably benign |
Het |
| Cfap96 |
T |
A |
8: 46,423,444 (GRCm39) |
E89D |
possibly damaging |
Het |
| Cimap1c |
T |
A |
9: 56,757,262 (GRCm39) |
M139L |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,836 (GRCm39) |
D1084G |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,810,888 (GRCm39) |
I194K |
probably damaging |
Het |
| Col20a1 |
C |
T |
2: 180,636,007 (GRCm39) |
Q211* |
probably null |
Het |
| Col9a1 |
T |
A |
1: 24,234,498 (GRCm39) |
L13Q |
unknown |
Het |
| Cracr2a |
A |
T |
6: 127,585,669 (GRCm39) |
M156L |
probably benign |
Het |
| Cts8 |
C |
T |
13: 61,399,505 (GRCm39) |
M151I |
possibly damaging |
Het |
| Cyp2ab1 |
A |
T |
16: 20,135,469 (GRCm39) |
L11Q |
probably null |
Het |
| Dhrs13 |
T |
A |
11: 77,925,208 (GRCm39) |
C160S |
probably benign |
Het |
| Enthd1 |
T |
A |
15: 80,358,415 (GRCm39) |
E368D |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,760,522 (GRCm39) |
I676T |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,421 (GRCm39) |
R176G |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,990,947 (GRCm39) |
F67L |
possibly damaging |
Het |
| Gm4353 |
G |
A |
7: 115,683,727 (GRCm39) |
P23S |
probably damaging |
Het |
| Gm6882 |
T |
A |
7: 21,161,677 (GRCm39) |
I64F |
possibly damaging |
Het |
| Grwd1 |
A |
T |
7: 45,480,204 (GRCm39) |
M1K |
probably null |
Het |
| Hook2 |
T |
A |
8: 85,718,046 (GRCm39) |
S58T |
probably benign |
Het |
| Iqch |
T |
G |
9: 63,329,117 (GRCm39) |
*1072C |
probably null |
Het |
| Kmt2d |
G |
A |
15: 98,748,267 (GRCm39) |
T3019I |
unknown |
Het |
| Lmx1a |
T |
C |
1: 167,674,247 (GRCm39) |
S356P |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,842,712 (GRCm39) |
M546V |
probably benign |
Het |
| Lrrc1 |
C |
A |
9: 77,379,504 (GRCm39) |
E96* |
probably null |
Het |
| Lrtm2 |
C |
A |
6: 119,294,113 (GRCm39) |
M339I |
probably damaging |
Het |
| Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
| Map7d1 |
A |
G |
4: 126,130,778 (GRCm39) |
C384R |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,012 (GRCm39) |
D296G |
probably damaging |
Het |
| Mettl24 |
A |
T |
10: 40,686,508 (GRCm39) |
H295L |
probably damaging |
Het |
| Mgat4f |
T |
C |
1: 134,318,163 (GRCm39) |
S312P |
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
| Mrps5 |
T |
C |
2: 127,437,617 (GRCm39) |
V148A |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,964,891 (GRCm39) |
V980A |
probably damaging |
Het |
| Ncaph |
A |
T |
2: 126,958,506 (GRCm39) |
D504E |
probably damaging |
Het |
| Nxph1 |
A |
G |
6: 9,247,497 (GRCm39) |
N156S |
probably damaging |
Het |
| Or2t26 |
T |
A |
11: 49,040,012 (GRCm39) |
C309* |
probably null |
Het |
| Or4f14b |
T |
A |
2: 111,775,501 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pafah1b3 |
T |
A |
7: 24,994,657 (GRCm39) |
I186L |
probably benign |
Het |
| Papola |
C |
A |
12: 105,775,790 (GRCm39) |
N235K |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,737,527 (GRCm39) |
M98K |
probably benign |
Het |
| Pip4p1 |
A |
C |
14: 51,167,634 (GRCm39) |
M104R |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,330,800 (GRCm39) |
N125S |
probably damaging |
Het |
| Pls1 |
T |
A |
9: 95,655,612 (GRCm39) |
H380L |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,300,311 (GRCm39) |
T1591A |
possibly damaging |
Het |
| Pparg |
T |
G |
6: 115,418,581 (GRCm39) |
S147A |
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,279,003 (GRCm39) |
S1025P |
probably benign |
Het |
| Prkcd |
T |
A |
14: 30,321,664 (GRCm39) |
H510L |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,572,480 (GRCm39) |
E499D |
possibly damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,901,983 (GRCm39) |
S256P |
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,599,755 (GRCm39) |
T320A |
probably damaging |
Het |
| Rnf207 |
A |
G |
4: 152,396,634 (GRCm39) |
I459T |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,731,188 (GRCm39) |
D727E |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,720,795 (GRCm39) |
R1378H |
possibly damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,397,680 (GRCm39) |
S11P |
probably benign |
Het |
| Sox4 |
A |
G |
13: 29,137,000 (GRCm39) |
V2A |
probably damaging |
Het |
| Srf |
A |
G |
17: 46,866,318 (GRCm39) |
F146S |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,035,747 (GRCm39) |
V797A |
unknown |
Het |
| Stk32c |
T |
C |
7: 138,684,218 (GRCm39) |
D463G |
possibly damaging |
Het |
| Syne2 |
C |
A |
12: 76,018,654 (GRCm39) |
Y3384* |
probably null |
Het |
| Tektl1 |
T |
C |
10: 78,588,324 (GRCm39) |
D162G |
probably damaging |
Het |
| Traip |
T |
A |
9: 107,838,184 (GRCm39) |
M139K |
possibly damaging |
Het |
| Trappc2l |
T |
A |
8: 123,341,051 (GRCm39) |
F100Y |
probably damaging |
Het |
| Ush1c |
T |
C |
7: 45,878,643 (GRCm39) |
D124G |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,099,691 (GRCm39) |
V1168A |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,882 (GRCm39) |
D233G |
possibly damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,334,120 (GRCm39) |
R31C |
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 |
|
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 |
|
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'- CTAACCACAGTCCATGCAGG -3'
Sequencing Primer
(F):5'- GAGTTAGTTACACATGCCAAGTGC -3'
(R):5'- CCATGCAGGAATAGTAGGTCCTTC -3'
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| Posted On |
2019-06-26 |
Incidental Mutation