Mutagenetix > Incidental Mutation

Incidental Mutation 'R7232:Runx2'

562588

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

045303-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7232 (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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	G	A	7: 40,642,603 (GRCm39)	G91S	probably damaging	Het
Adam21	T	G	12: 81,607,330 (GRCm39)	N144T	probably damaging	Het
Adgrg7	T	C	16: 56,597,515 (GRCm39)		probably null	Het
Angpt4	T	C	2: 151,771,460 (GRCm39)	S259P	possibly damaging	Het
Aqr	A	C	2: 113,936,363 (GRCm39)	L1320R	probably damaging	Het
Arhgef10	G	A	8: 14,990,323 (GRCm39)	G266D	probably benign	Het
Bop1	A	G	15: 76,337,546 (GRCm39)	V693A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,738,863 (GRCm39)		probably null	Het
Cfap46	C	A	7: 139,197,493 (GRCm39)	R2126L	unknown	Het
Chek2	T	C	5: 111,008,781 (GRCm39)	V304A	probably damaging	Het
Cntnap4	T	A	8: 113,391,731 (GRCm39)		probably null	Het
Ctps1	C	A	4: 120,405,321 (GRCm39)	G374C	probably damaging	Het
Defa27	A	T	8: 21,805,625 (GRCm39)	I22F	probably damaging	Het
Dnah14	T	C	1: 181,584,928 (GRCm39)	S3220P	probably damaging	Het
Dop1b	T	G	16: 93,557,373 (GRCm39)		probably null	Het
Dpysl5	G	A	5: 30,949,642 (GRCm39)	V471I	probably benign	Het
Duoxa1	T	A	2: 122,135,728 (GRCm39)	I124F	probably damaging	Het
Eif4enif1	A	G	11: 3,165,678 (GRCm39)	E85G	possibly damaging	Het
Eogt	T	A	6: 97,096,944 (GRCm39)	I355F	probably damaging	Het
Epha7	T	A	4: 28,951,279 (GRCm39)	V800E	probably damaging	Het
Evi5l	A	G	8: 4,255,906 (GRCm39)	Q633R	possibly damaging	Het
Fam170a	T	C	18: 50,414,728 (GRCm39)	Y125H	probably damaging	Het
Fbxo15	T	C	18: 84,980,747 (GRCm39)	Y241H	probably damaging	Het
Gbe1	T	C	16: 70,233,828 (GRCm39)	I235T	possibly damaging	Het
Gfra3	C	T	18: 34,844,234 (GRCm39)	R102Q	probably damaging	Het
Gjd4	C	T	18: 9,280,380 (GRCm39)	G233S	probably damaging	Het
Gm29106	C	T	1: 118,127,291 (GRCm39)	P328S	probably damaging	Het
Hgfac	G	T	5: 35,204,258 (GRCm39)	R507L	probably damaging	Het
Jakmip3	A	G	7: 138,609,355 (GRCm39)	K153R	probably benign	Het
Kcnc1	T	A	7: 46,077,383 (GRCm39)	V395E	probably damaging	Het
Krt6b	T	C	15: 101,586,577 (GRCm39)	D304G	probably damaging	Het
Ldha	T	C	7: 46,500,323 (GRCm39)	Y174H	probably benign	Het
Lgi4	G	A	7: 30,766,776 (GRCm39)	V268M	possibly damaging	Het
Lpar3	T	G	3: 145,947,061 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,905,477 (GRCm39)	D103G	probably damaging	Het
Marchf5	G	A	19: 37,194,713 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,419,866 (GRCm39)	H4115L	possibly damaging	Het
Myh13	G	A	11: 67,239,672 (GRCm39)	D741N	probably damaging	Het
Naglu	A	T	11: 100,967,252 (GRCm39)	I401F	probably damaging	Het
Ncam2	T	A	16: 81,309,759 (GRCm39)	N416K	probably damaging	Het
Ncan	A	G	8: 70,564,738 (GRCm39)	L292S	probably damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	A	T	19: 5,553,659 (GRCm39)	S41T	possibly damaging	Het
Onecut2	T	A	18: 64,474,633 (GRCm39)	W395R	probably damaging	Het
Or10a2	T	A	7: 106,673,062 (GRCm39)	I9K	probably benign	Het
Pak6	T	A	2: 118,524,003 (GRCm39)	V386E	probably damaging	Het
Pias2	A	G	18: 77,220,931 (GRCm39)	S396G	probably benign	Het
Plxna2	T	A	1: 194,394,568 (GRCm39)	L483H	probably damaging	Het
Prss36	G	T	7: 127,534,763 (GRCm39)	R484S	probably benign	Het
Ptpn21	A	T	12: 98,654,996 (GRCm39)	V657E	probably benign	Het
Rassf2	T	C	2: 131,838,332 (GRCm39)	E318G	probably damaging	Het
Rp1	A	C	1: 4,298,824 (GRCm39)	S623A	unknown	Het
Scn11a	T	A	9: 119,588,982 (GRCm39)	E1308V	probably damaging	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Slit3	A	G	11: 35,501,516 (GRCm39)	T417A	possibly damaging	Het
Sostdc1	C	A	12: 36,367,310 (GRCm39)	A162E	possibly damaging	Het
Sox13	A	T	1: 133,312,129 (GRCm39)		probably null	Het
Sox8	G	T	17: 25,786,514 (GRCm39)	S396R	probably benign	Het
Sult2a3	A	T	7: 13,816,685 (GRCm39)	F164L	possibly damaging	Het
Susd2	T	C	10: 75,475,685 (GRCm39)	Y438C	probably damaging	Het
Tas2r106	T	G	6: 131,655,810 (GRCm39)	T14P	probably damaging	Het
Tcf25	T	A	8: 124,127,800 (GRCm39)		probably null	Het
Tenm3	G	A	8: 48,688,970 (GRCm39)	R2206W	probably damaging	Het
Tep1	A	G	14: 51,081,789 (GRCm39)	L471P	unknown	Het
Ticrr	A	T	7: 79,343,490 (GRCm39)	K1118N	probably damaging	Het
Tlr5	G	A	1: 182,801,064 (GRCm39)	E123K	probably benign	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,770 (GRCm39)	V141A	probably benign	Het
Unc79	T	A	12: 103,100,734 (GRCm39)	S2050T	possibly damaging	Het
Usp13	A	G	3: 32,920,020 (GRCm39)	D235G	probably benign	Het
Vcam1	T	C	3: 115,919,628 (GRCm39)	T213A	possibly damaging	Het
Vmn2r60	T	A	7: 41,786,166 (GRCm39)	I323N	possibly damaging	Het
Vps13b	A	G	15: 35,877,703 (GRCm39)	I2892M	probably damaging	Het
Wnt5a	T	A	14: 28,240,329 (GRCm39)	S160T	probably benign	Het
Zar1	G	A	5: 72,738,294 (GRCm39)	P36L	possibly damaging	Het
Zfp773	A	T	7: 7,135,984 (GRCm39)	M204K	probably benign	Het
Zhx1	T	C	15: 57,916,465 (GRCm39)	T594A	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
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
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'- GTTAGTTACACATGCCAAGTGC -3'
(R):5'- TCTAACCACAGTCCATGCAGG -3'

Sequencing Primer
(F):5'- GACCTAGGAAAGCTCACA -3'
(R):5'- CCATGCAGGAATAGTAGGTCCTTC -3'

Posted On

2019-06-26