Mutagenetix > Incidental Mutation

Incidental Mutation 'R7085:Runx2'

549864

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

045179-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

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

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (75/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,100,476 (GRCm39)	L283P	probably damaging	Het
Abhd18	T	C	3: 40,871,344 (GRCm39)	M132T	possibly damaging	Het
Afap1l1	A	G	18: 61,881,885 (GRCm39)	V270A	possibly damaging	Het
Ankrd34a	A	T	3: 96,505,945 (GRCm39)	Q383L	probably benign	Het
Atp8b5	A	G	4: 43,361,835 (GRCm39)	D627G	probably damaging	Het
Atrnl1	T	A	19: 57,680,289 (GRCm39)	C730S	probably damaging	Het
Bclaf1	T	C	10: 20,197,768 (GRCm39)	S4P	unknown	Het
Blzf1	T	C	1: 164,129,893 (GRCm39)	D153G	probably damaging	Het
Btaf1	T	C	19: 36,950,318 (GRCm39)	V516A	probably benign	Het
C1qa	T	C	4: 136,625,091 (GRCm39)	T20A	probably benign	Het
Cacna1e	A	T	1: 154,349,492 (GRCm39)		probably null	Het
Cfd	T	G	10: 79,728,326 (GRCm39)	V229G	probably damaging	Het
Chd3	T	A	11: 69,260,027 (GRCm39)	H64L	unknown	Het
Cntn3	A	G	6: 102,142,362 (GRCm39)	S1002P	possibly damaging	Het
Cntrl	T	A	2: 35,055,804 (GRCm39)	C1786S	probably benign	Het
Cpa1	A	G	6: 30,643,619 (GRCm39)	D355G	probably benign	Het
D130043K22Rik	T	C	13: 25,056,285 (GRCm39)	V539A	possibly damaging	Het
Ddx1	A	C	12: 13,279,356 (GRCm39)	W428G	probably damaging	Het
Ddx49	G	A	8: 70,755,133 (GRCm39)		probably benign	Het
Dnhd1	T	A	7: 105,364,468 (GRCm39)	V4207E	probably benign	Het
Dock3	A	G	9: 106,779,086 (GRCm39)	S288P	probably damaging	Het
Drap1	G	A	19: 5,474,815 (GRCm39)		probably benign	Het
Ecm2	G	A	13: 49,674,378 (GRCm39)	R266K	probably damaging	Het
Emilin2	A	G	17: 71,581,100 (GRCm39)	L542S	probably damaging	Het
Evx1	T	C	6: 52,293,677 (GRCm39)	Y282H	possibly damaging	Het
Fbxo44	T	A	4: 148,243,200 (GRCm39)	H20L	probably damaging	Het
Flot2	G	T	11: 77,948,900 (GRCm39)	A292S	possibly damaging	Het
Fry	A	G	5: 150,362,214 (GRCm39)	I2161V	probably benign	Het
Gli3	T	C	13: 15,889,647 (GRCm39)	F587S	probably damaging	Het
Gm49368	A	G	7: 127,726,029 (GRCm39)	D1147G	unknown	Het
Gprc5b	A	T	7: 118,582,855 (GRCm39)	M338K	probably damaging	Het
H1f11-ps	A	G	19: 47,159,101 (GRCm39)	V158A	unknown	Het
Hacd3	A	C	9: 64,905,525 (GRCm39)	N204K	probably damaging	Het
Hsd3b9	T	C	3: 98,357,710 (GRCm39)	N101D	probably damaging	Het
Hydin	A	G	8: 111,329,962 (GRCm39)	T4899A	probably benign	Het
Ido2	T	A	8: 25,048,212 (GRCm39)	R49S	probably benign	Het
Igsf3	C	A	3: 101,362,805 (GRCm39)	T942K	probably benign	Het
Kank4	T	A	4: 98,668,183 (GRCm39)	Q88L	probably benign	Het
Krtap16-1	T	A	11: 99,877,111 (GRCm39)	I98F	possibly damaging	Het
Laptm4a	T	C	12: 8,972,113 (GRCm39)	V52A	probably benign	Het
Lmbr1	A	T	5: 29,566,090 (GRCm39)		probably null	Het
Lnx1	G	A	5: 74,788,846 (GRCm39)	S31F	possibly damaging	Het
Mafa	G	T	15: 75,619,536 (GRCm39)	A79E	unknown	Het
Me2	A	T	18: 73,914,129 (GRCm39)	N467K	probably damaging	Het
Med23	T	A	10: 24,746,019 (GRCm39)	L8Q	probably damaging	Het
Muc16	T	A	9: 18,556,145 (GRCm39)	I3383F	unknown	Het
Nbas	G	T	12: 13,335,259 (GRCm39)	S151I	probably damaging	Het
Or10ag60	T	A	2: 87,437,750 (GRCm39)	I6N	probably benign	Het
Or10d5j	C	A	9: 39,867,808 (GRCm39)	C141F	probably damaging	Het
Or13c25	C	T	4: 52,910,961 (GRCm39)	A278T	probably benign	Het
Or6k6	T	A	1: 173,945,226 (GRCm39)	I119F	probably damaging	Het
Or7d11	G	A	9: 19,966,232 (GRCm39)	H58Y	probably benign	Het
Piezo1	A	G	8: 123,217,633 (GRCm39)	V1305A		Het
Plcb3	T	C	19: 6,937,501 (GRCm39)	E639G	possibly damaging	Het
Polr2a	A	G	11: 69,634,706 (GRCm39)	L658P	probably damaging	Het
Prag1	A	T	8: 36,571,391 (GRCm39)	Q658L	possibly damaging	Het
Prex2	A	T	1: 11,168,812 (GRCm39)	R269S	possibly damaging	Het
Reln	C	A	5: 22,120,085 (GRCm39)	G2856*	probably null	Het
Rsph10b	A	T	5: 143,886,102 (GRCm39)	T267S	possibly damaging	Het
Rtn4rl1	A	G	11: 75,156,050 (GRCm39)	I161V	probably benign	Het
Sbno1	G	A	5: 124,519,783 (GRCm39)	P1165L	possibly damaging	Het
Scn3b	T	C	9: 40,188,394 (GRCm39)	V29A	probably damaging	Het
Sh3d21	T	A	4: 126,056,884 (GRCm39)	T13S	probably benign	Het
Shisal2b	G	T	13: 104,994,814 (GRCm39)	T111K	probably benign	Het
Slc22a22	G	A	15: 57,113,045 (GRCm39)	T398I	probably benign	Het
Slc40a1	T	A	1: 45,950,688 (GRCm39)	T255S	probably benign	Het
Smchd1	A	T	17: 71,672,214 (GRCm39)		probably null	Het
Soat1	A	T	1: 156,259,901 (GRCm39)	V480D	probably damaging	Het
Spata31e2	A	G	1: 26,722,546 (GRCm39)	L878P	possibly damaging	Het
Supt5	T	A	7: 28,030,914 (GRCm39)	E39V	unknown	Het
Tapbpl	T	C	6: 125,203,451 (GRCm39)		probably null	Het
Tdpoz7	T	A	3: 93,979,939 (GRCm39)	M5L	probably benign	Het
Tlr11	A	T	14: 50,600,113 (GRCm39)	I700F	probably damaging	Het
Tmc3	A	T	7: 83,271,353 (GRCm39)	K864M	possibly damaging	Het
Tns1	G	A	1: 73,964,621 (GRCm39)	P81S	probably benign	Het
Tspan2	C	A	3: 102,668,270 (GRCm39)	L168I	probably benign	Het
Unc13d	C	A	11: 115,955,633 (GRCm39)	S885I	probably benign	Het
Unc45a	A	T	7: 79,976,082 (GRCm39)	M799K	possibly damaging	Het
Usp34	A	G	11: 23,313,097 (GRCm39)	D547G		Het
Vps33b	A	G	7: 79,925,837 (GRCm39)	I95V	probably benign	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
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
R9615:Runx2	UTSW	17	44,969,560 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCCATTACCCCGAGAGTTAG -3'
(R):5'- TCCATGCAGGAATAGTAGGTCC -3'

Sequencing Primer
(F):5'- TTACCCCGAGAGTTAGTTACACATGC -3'
(R):5'- GTAGGTCCTTCAAATATTTGCTCAC -3'

Posted On

2019-05-15