Mutagenetix > Incidental Mutation

Incidental Mutation 'R7057:Runx2'

548012

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7057 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44495987-44814797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44814537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 31 (W31R)

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: W31R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000160673
AA Change: W31R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123743
Gene: ENSMUSG00000039153
AA Change: W31R

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,968,247	V220D	probably benign	Het
Ankrd1	T	C	19: 36,118,233	E113G	possibly damaging	Het
Aqp12	T	C	1: 93,011,996	L249P	probably damaging	Het
Atg4a-ps	A	G	3: 103,645,980	F15S	possibly damaging	Het
Bub1	T	A	2: 127,829,527	M46L	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C2cd4d	A	G	3: 94,363,493	H22R	probably benign	Het
Ccdc157	A	G	11: 4,144,586	V480A	probably benign	Het
Cdc42ep3	G	A	17: 79,335,523		probably benign	Het
Cela1	T	A	15: 100,682,893	T161S	possibly damaging	Het
Chtf18	G	T	17: 25,721,126	A697E	possibly damaging	Het
Cr2	T	C	1: 195,151,610	D957G	possibly damaging	Het
Cyp2c40	A	G	19: 39,807,619	V60A	probably damaging	Het
Dazl	CCATGATGGCGGC	CC	17: 50,293,406		probably null	Het
Dock2	A	T	11: 34,227,684	L1824Q	probably benign	Het
Dock2	T	C	11: 34,695,217	Y546C	probably benign	Het
Fam208a	A	T	14: 27,461,651	N689I	probably damaging	Het
Focad	G	A	4: 88,274,105	C557Y	unknown	Het
Ftmt	T	A	18: 52,332,108	N165K	probably benign	Het
Gen1	A	C	12: 11,242,418	S457A	probably benign	Het
Gja1	T	G	10: 56,388,033	S163A	probably benign	Het
Gm8267	T	C	14: 44,722,024	I194M	probably damaging	Het
Golga3	T	A	5: 110,188,663	S389R	probably damaging	Het
Gpc5	C	A	14: 115,133,242	Q87K	possibly damaging	Het
Hmcn2	G	A	2: 31,422,649	A3420T	probably damaging	Het
Htt	A	G	5: 34,821,723	S817G	probably null	Het
Hus1b	C	T	13: 30,947,550	C42Y	possibly damaging	Het
Iars2	A	G	1: 185,289,367	F913L	probably benign	Het
Kcna4	A	G	2: 107,295,320	E133G	probably damaging	Het
Klhl36	T	C	8: 119,876,797	L597P	probably benign	Het
Ltv1	T	C	10: 13,180,902	E299G	possibly damaging	Het
Mmp12	A	G	9: 7,357,840	Y348C	probably damaging	Het
Mmp12	G	A	9: 7,369,173	V270I	probably benign	Het
Mmp2	A	G	8: 92,831,705	D134G	probably damaging	Het
Mrpl15	A	T	1: 4,776,642	M237K	probably benign	Het
Ms4a6b	G	T	19: 11,526,889	V177F	possibly damaging	Het
Muc16	A	G	9: 18,646,079	S2973P	unknown	Het
Olfr1219	A	C	2: 89,074,464	I209S	possibly damaging	Het
Olfr1445	A	T	19: 12,884,642	I254F	probably damaging	Het
Olfr1477	G	T	19: 13,502,879	D179Y	probably damaging	Het
Olfr390	A	C	11: 73,787,148	D70A	possibly damaging	Het
Olfr912	A	T	9: 38,581,754	H159L	probably damaging	Het
Pikfyve	T	A	1: 65,247,205	I1201K	probably benign	Het
Plekhn1	T	G	4: 156,233,917	M83L	probably damaging	Het
Pnlip	G	T	19: 58,676,263	D212Y	probably damaging	Het
Pomt2	T	C	12: 87,127,378	N417S	probably damaging	Het
Pxylp1	T	A	9: 96,825,050	M360L	probably benign	Het
Rbak	G	A	5: 143,173,927	T457I	possibly damaging	Het
Sec16a	T	A	2: 26,425,265	I1795F	probably damaging	Het
Sik2	A	T	9: 50,998,561	I64N	probably damaging	Het
Slc26a8	T	C	17: 28,638,397	E924G	possibly damaging	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Slc45a4	C	A	15: 73,587,638	D174Y	probably damaging	Het
Slc6a6	A	C	6: 91,741,267	E354A	probably damaging	Het
Slc8a1	A	T	17: 81,649,095	S171R	probably damaging	Het
Srgap1	T	C	10: 121,804,953	I669M	probably benign	Het
Stk39	C	A	2: 68,410,127	A87S	possibly damaging	Het
Tbx18	C	A	9: 87,705,264	S600I	possibly damaging	Het
Tesc	A	C	5: 118,054,960	K114Q	probably damaging	Het
Tll1	T	C	8: 64,101,881	D256G	probably damaging	Het
Tmem35b	T	A	4: 127,127,886	I45K	probably benign	Het
Tnks	T	C	8: 34,840,014	D1127G	probably damaging	Het
Trpm8	A	T	1: 88,362,080	D920V	probably null	Het
U2af1	A	T	17: 31,648,857	D79E	probably benign	Het
Zfp704	T	C	3: 9,470,917	D331G	probably damaging	Het
Znrf3	G	T	11: 5,282,442	P261Q	probably benign	Het
Zscan4b	A	T	7: 10,901,709	C202*	probably null	Het

Other mutations in Runx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02020:Runx2	APN	17	44658599	missense	probably damaging	1.00
IGL02029:Runx2	APN	17	44658687	nonsense	probably null
IGL02084:Runx2	APN	17	44724829	missense	probably damaging	1.00
R0040:Runx2	UTSW	17	44608254	missense	possibly damaging	0.58
R0627:Runx2	UTSW	17	44658505	intron	probably benign
R0944:Runx2	UTSW	17	44608236	missense	probably damaging	0.99
R1514:Runx2	UTSW	17	44735337	missense	possibly damaging	0.54
R2069:Runx2	UTSW	17	44735342	missense	probably benign	0.19
R3976:Runx2	UTSW	17	44610079	missense	possibly damaging	0.91
R4686:Runx2	UTSW	17	44639685	missense	probably damaging	1.00
R4911:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R5241:Runx2	UTSW	17	44639777	nonsense	probably null
R5526:Runx2	UTSW	17	44724862	missense	probably damaging	1.00
R6566:Runx2	UTSW	17	44814488	critical splice donor site	probably null
R6874:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R6875:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R6980:Runx2	UTSW	17	44735316	missense	possibly damaging	0.65
R7008:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7009:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7085:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7175:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7176:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7177:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7181:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7231:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7232:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7254:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7267:Runx2	UTSW	17	44814192	missense	probably damaging	1.00
R7835:Runx2	UTSW	17	44608236	missense	probably damaging	0.99
R7949:Runx2	UTSW	17	44735555	missense	possibly damaging	0.45
R8474:Runx2	UTSW	17	44608260	missense	probably damaging	1.00
R8806:Runx2	UTSW	17	44639683	missense	probably benign	0.09
R8913:Runx2	UTSW	17	44608282	missense	probably benign	0.09
R9092:Runx2	UTSW	17	44735556	missense	probably damaging	0.97
R9158:Runx2	UTSW	17	44735621	missense	probably benign	0.33
R9250:Runx2	UTSW	17	44814572	missense	probably benign	0.00
R9615:Runx2	UTSW	17	44658673	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGTATGCCTGGAGTACATAGAC -3'
(R):5'- AGGCAGTCCCACTTTACTTTG -3'

Sequencing Primer
(F):5'- GCTGGTAACATGTGAAAAGC -3'
(R):5'- CCCACTTTACTTTGAGTACTGTGAGG -3'

Posted On

2019-05-13