Incidental Mutation 'R9250:Runx2'
ID |
701517 |
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 |
068989-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9250 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
44806873-45125518 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45125459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 19
(L19P)
|
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: L19P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113571
|
SMART Domains |
Protein: ENSMUSP00000109201 Gene: ENSMUSG00000039153
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 |
probably benign
Transcript: ENSMUST00000159943
|
SMART Domains |
Protein: ENSMUSP00000124918 Gene: ENSMUSG00000039153
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: ENSMUST00000160672
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160673
AA Change: L19P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000123743 Gene: ENSMUSG00000039153 AA Change: L19P
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: ENSMUST00000162629
|
SMART Domains |
Protein: ENSMUSP00000124374 Gene: ENSMUSG00000039153
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
Validation Efficiency |
98% (55/56) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
G |
3: 137,772,389 (GRCm39) |
A526G |
probably damaging |
Het |
AAdacl4fm3 |
A |
T |
4: 144,442,011 (GRCm39) |
I80K |
probably benign |
Het |
Ablim3 |
A |
G |
18: 61,944,501 (GRCm39) |
L526P |
probably damaging |
Het |
Aknad1 |
T |
C |
3: 108,664,143 (GRCm39) |
S369P |
probably damaging |
Het |
Aldh8a1 |
T |
C |
10: 21,258,259 (GRCm39) |
S119P |
probably damaging |
Het |
Brpf3 |
T |
C |
17: 29,054,788 (GRCm39) |
I1110T |
probably damaging |
Het |
Cdk12 |
T |
C |
11: 98,101,398 (GRCm39) |
S419P |
probably benign |
Het |
Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
Crim1 |
C |
T |
17: 78,677,471 (GRCm39) |
H891Y |
probably benign |
Het |
Dapp1 |
T |
C |
3: 137,638,919 (GRCm39) |
E269G |
probably benign |
Het |
Ddt |
T |
C |
10: 75,609,063 (GRCm39) |
D32G |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,240,543 (GRCm39) |
D236G |
probably benign |
Het |
Edem1 |
C |
A |
6: 108,805,850 (GRCm39) |
D50E |
probably benign |
Het |
Exoc5 |
A |
T |
14: 49,256,915 (GRCm39) |
N490K |
probably damaging |
Het |
Fam117a |
C |
A |
11: 95,228,071 (GRCm39) |
D60E |
possibly damaging |
Het |
Fam186a |
A |
G |
15: 99,845,330 (GRCm39) |
S305P |
unknown |
Het |
Fbxw21 |
A |
G |
9: 108,972,846 (GRCm39) |
F363L |
probably benign |
Het |
Fhl2 |
A |
G |
1: 43,167,422 (GRCm39) |
C224R |
probably damaging |
Het |
Gad1 |
T |
A |
2: 70,409,543 (GRCm39) |
N211K |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
Igkv3-5 |
T |
C |
6: 70,640,758 (GRCm39) |
S80P |
probably benign |
Het |
Igkv4-90 |
C |
A |
6: 68,784,331 (GRCm39) |
G62* |
probably null |
Het |
Il31ra |
A |
T |
13: 112,669,508 (GRCm39) |
Y386N |
probably damaging |
Het |
Kif13a |
G |
T |
13: 46,928,909 (GRCm39) |
H1159N |
probably damaging |
Het |
Kmt2a |
G |
A |
9: 44,759,683 (GRCm39) |
S722F |
possibly damaging |
Het |
Mipep |
T |
C |
14: 61,028,358 (GRCm39) |
Y157H |
probably damaging |
Het |
Mipol1 |
A |
G |
12: 57,461,169 (GRCm39) |
E293G |
probably damaging |
Het |
Mmp7 |
A |
T |
9: 7,697,885 (GRCm39) |
|
probably benign |
Het |
Mr1 |
A |
G |
1: 155,013,325 (GRCm39) |
L84P |
probably damaging |
Het |
Neb |
A |
G |
2: 52,168,913 (GRCm39) |
V1874A |
possibly damaging |
Het |
Nefm |
T |
C |
14: 68,358,570 (GRCm39) |
|
probably benign |
Het |
Nek1 |
T |
C |
8: 61,465,151 (GRCm39) |
M80T |
probably damaging |
Het |
Nubp2 |
A |
G |
17: 25,103,373 (GRCm39) |
|
probably null |
Het |
Or10ab4 |
C |
T |
7: 107,655,014 (GRCm39) |
T275M |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,278 (GRCm39) |
I41T |
probably benign |
Het |
Or8b101 |
T |
A |
9: 38,020,718 (GRCm39) |
C240* |
probably null |
Het |
Ovch2 |
C |
A |
7: 107,392,542 (GRCm39) |
R267L |
probably damaging |
Het |
Pole |
A |
G |
5: 110,447,687 (GRCm39) |
E741G |
possibly damaging |
Het |
Ptprh |
T |
A |
7: 4,576,289 (GRCm39) |
T324S |
probably benign |
Het |
Pxk |
T |
A |
14: 8,144,123 (GRCm38) |
H290Q |
probably damaging |
Het |
Rab11fip3 |
G |
T |
17: 26,237,219 (GRCm39) |
T5N |
unknown |
Het |
Rp9 |
G |
A |
9: 22,365,086 (GRCm39) |
Q124* |
probably null |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Sf1 |
C |
T |
19: 6,424,764 (GRCm39) |
P473L |
unknown |
Het |
Slc9a2 |
C |
T |
1: 40,806,987 (GRCm39) |
T758I |
probably benign |
Het |
Spef1l |
C |
A |
7: 139,556,395 (GRCm39) |
K197N |
probably benign |
Het |
Tas2r105 |
T |
G |
6: 131,663,951 (GRCm39) |
H159P |
probably benign |
Het |
Tas2r120 |
T |
A |
6: 132,633,954 (GRCm39) |
M12K |
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,667,320 (GRCm39) |
Y614C |
probably benign |
Het |
Trpv4 |
T |
C |
5: 114,764,941 (GRCm39) |
Y691C |
probably damaging |
Het |
Unc93a |
A |
G |
17: 13,334,488 (GRCm39) |
V337A |
probably benign |
Het |
Usp17le |
T |
G |
7: 104,418,839 (GRCm39) |
Q101P |
probably damaging |
Het |
Usp3 |
A |
T |
9: 66,449,793 (GRCm39) |
|
probably null |
Het |
Zfp445 |
T |
C |
9: 122,681,092 (GRCm39) |
S950G |
possibly damaging |
Het |
Zfp644 |
T |
G |
5: 106,784,699 (GRCm39) |
D616A |
probably damaging |
Het |
Zfp759 |
T |
G |
13: 67,288,461 (GRCm39) |
C671G |
probably damaging |
Het |
Zgrf1 |
G |
T |
3: 127,379,797 (GRCm39) |
C1111F |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,148,732 (GRCm39) |
S349T |
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 |
R9615:Runx2
|
UTSW |
17 |
44,969,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTATGCCTGGAGTACATAGAC -3'
(R):5'- GCAGTCCCACTTTACTTTGAGTAC -3'
Sequencing Primer
(F):5'- TTCTGTCAAGAAATTATGTAGCTGG -3'
(R):5'- CCCACTTTACTTTGAGTACTGTGAGG -3'
|
Posted On |
2022-03-25 |