Incidental Mutation 'R9615:Runx2'
ID |
724537 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9615 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
44806873-45125518 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44969560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 310
(D310E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113568]
[ENSMUST00000113571]
[ENSMUST00000113572]
[ENSMUST00000159943]
[ENSMUST00000160673]
[ENSMUST00000162373]
[ENSMUST00000162629]
[ENSMUST00000162816]
[ENSMUST00000162878]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113568
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113571
AA Change: D242E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000109201 Gene: ENSMUSG00000039153 AA Change: D242E
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 |
|
SMART Domains |
Protein: ENSMUSP00000109202 Gene: ENSMUSG00000039153 AA Change: D228E
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
31 |
75 |
N/A |
INTRINSIC |
Pfam:Runt
|
92 |
226 |
3.6e-83 |
PFAM |
Pfam:RunxI
|
420 |
514 |
2.7e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159943
AA Change: D242E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000124918 Gene: ENSMUSG00000039153 AA Change: D242E
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: ENSMUST00000160199
|
SMART Domains |
Protein: ENSMUSP00000125196 Gene: ENSMUSG00000039153
Domain | Start | End | E-Value | Type |
Pfam:Runt
|
4 |
101 |
3.3e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160672
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160673
AA Change: D310E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000123743 Gene: ENSMUSG00000039153 AA Change: D310E
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 benign
Transcript: ENSMUST00000162130
|
SMART Domains |
Protein: ENSMUSP00000124199 Gene: ENSMUSG00000039153
Domain | Start | End | E-Value | Type |
Pfam:Runt
|
6 |
135 |
8e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162373
AA Change: D228E
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000124494 Gene: ENSMUSG00000039153 AA Change: D228E
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
31 |
75 |
N/A |
INTRINSIC |
Pfam:Runt
|
92 |
226 |
3.3e-83 |
PFAM |
Pfam:RunxI
|
398 |
492 |
2.5e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162629
AA Change: D242E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000124374 Gene: ENSMUSG00000039153 AA Change: D242E
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 |
probably benign
Transcript: ENSMUST00000162816
|
SMART Domains |
Protein: ENSMUSP00000125498 Gene: ENSMUSG00000039153
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
31 |
75 |
N/A |
INTRINSIC |
Pfam:Runt
|
92 |
226 |
8e-83 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162878
|
SMART Domains |
Protein: ENSMUSP00000123707 Gene: ENSMUSG00000039153
Domain | Start | End | E-Value | Type |
Pfam:Med15
|
6 |
224 |
1.4e-6 |
PFAM |
Pfam:Runt
|
92 |
192 |
8.1e-54 |
PFAM |
Pfam:RunxI
|
327 |
420 |
5.8e-41 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,814 (GRCm39) |
Q124R |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,126,404 (GRCm39) |
F1188I |
probably benign |
Het |
Acat3 |
G |
A |
17: 13,147,502 (GRCm39) |
Q172* |
probably null |
Het |
Aicda |
T |
A |
6: 122,538,113 (GRCm39) |
C90* |
probably null |
Het |
Arhgap39 |
C |
A |
15: 76,621,438 (GRCm39) |
V388L |
probably benign |
Het |
B020011L13Rik |
A |
T |
1: 117,729,462 (GRCm39) |
H323L |
probably damaging |
Het |
Bsn |
C |
T |
9: 107,984,430 (GRCm39) |
R436Q |
|
Het |
C3 |
A |
T |
17: 57,518,669 (GRCm39) |
L1238Q |
probably damaging |
Het |
Cert1 |
C |
T |
13: 96,767,334 (GRCm39) |
H495Y |
possibly damaging |
Het |
Ces1g |
A |
G |
8: 94,061,807 (GRCm39) |
V33A |
probably damaging |
Het |
Clstn1 |
A |
G |
4: 149,722,757 (GRCm39) |
D475G |
probably damaging |
Het |
Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
Cnnm4 |
A |
G |
1: 36,511,893 (GRCm39) |
M374V |
probably damaging |
Het |
Commd9 |
T |
C |
2: 101,727,436 (GRCm39) |
S77P |
possibly damaging |
Het |
Cox7a2l |
A |
G |
17: 83,821,701 (GRCm39) |
Y2H |
possibly damaging |
Het |
Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
Cubn |
G |
A |
2: 13,325,991 (GRCm39) |
H2725Y |
possibly damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,501,617 (GRCm39) |
F57L |
probably benign |
Het |
Dgkh |
A |
T |
14: 78,813,370 (GRCm39) |
V1036D |
possibly damaging |
Het |
Dip2c |
G |
A |
13: 9,625,191 (GRCm39) |
V562I |
probably benign |
Het |
Fat3 |
T |
C |
9: 16,289,343 (GRCm39) |
Q60R |
probably benign |
Het |
Gm1527 |
A |
G |
3: 28,969,475 (GRCm39) |
D275G |
probably damaging |
Het |
Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
Grik4 |
T |
A |
9: 42,502,765 (GRCm39) |
K453* |
probably null |
Het |
Hdlbp |
T |
C |
1: 93,358,014 (GRCm39) |
T296A |
probably benign |
Het |
Hrh4 |
C |
A |
18: 13,154,944 (GRCm39) |
T161K |
probably benign |
Het |
Ift74 |
A |
T |
4: 94,550,822 (GRCm39) |
|
probably null |
Het |
Kctd5 |
A |
T |
17: 24,292,192 (GRCm39) |
Y71N |
probably benign |
Het |
Klhl42 |
T |
C |
6: 147,009,373 (GRCm39) |
L404P |
probably damaging |
Het |
Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
Lipe |
T |
A |
7: 25,097,326 (GRCm39) |
K206* |
probably null |
Het |
Lipo3 |
T |
C |
19: 33,754,047 (GRCm39) |
I363V |
probably benign |
Het |
Mrgpra6 |
T |
A |
7: 46,835,675 (GRCm39) |
I249F |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,374,320 (GRCm39) |
N125I |
|
Het |
Nbr1 |
T |
A |
11: 101,465,978 (GRCm39) |
I753N |
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,138,434 (GRCm39) |
D451G |
probably benign |
Het |
Nlrp5 |
C |
T |
7: 23,107,561 (GRCm39) |
T78I |
probably benign |
Het |
Or10j3b |
A |
T |
1: 173,044,034 (GRCm39) |
E272V |
possibly damaging |
Het |
Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,164,399 (GRCm39) |
F728S |
probably damaging |
Het |
Ptgs2 |
T |
A |
1: 149,980,802 (GRCm39) |
F456Y |
probably damaging |
Het |
Rtl1 |
G |
A |
12: 109,556,835 (GRCm39) |
A1668V |
possibly damaging |
Het |
Samd4b |
A |
T |
7: 28,106,714 (GRCm39) |
I349K |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,487,504 (GRCm39) |
M610T |
possibly damaging |
Het |
Sec61b |
A |
G |
4: 47,483,056 (GRCm39) |
I105V |
probably benign |
Het |
Semp2l2b |
T |
C |
10: 21,943,611 (GRCm39) |
E123G |
probably benign |
Het |
Slc35f4 |
A |
G |
14: 49,556,306 (GRCm39) |
V149A |
probably benign |
Het |
Smndc1 |
T |
A |
19: 53,368,951 (GRCm39) |
M221L |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,316,203 (GRCm39) |
N275D |
possibly damaging |
Het |
Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
Thra |
G |
A |
11: 98,651,715 (GRCm39) |
R79H |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,347,032 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
A |
C |
17: 31,217,152 (GRCm39) |
Q1128P |
possibly damaging |
Het |
Vps35 |
G |
A |
8: 86,010,633 (GRCm39) |
R237C |
probably benign |
Het |
Zfp78 |
T |
A |
7: 6,382,074 (GRCm39) |
C343S |
probably damaging |
Het |
Zfp85 |
A |
G |
13: 67,897,326 (GRCm39) |
Y249H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACCTATGCGTCTGTCTTACCTG -3'
(R):5'- TCAGTCCCCGCATACAGATAG -3'
Sequencing Primer
(F):5'- ATGCGTCTGTCTTACCTGTAATCTG -3'
(R):5'- TGTCACCCTACGATGCTTGAAGAG -3'
|
Posted On |
2022-09-12 |