Mutagenetix > Incidental Mutation

Incidental Mutation 'R3838:Thpo'

277025

Institutional Source

Beutler Lab

Gene Symbol

Thpo

Ensembl Gene

ENSMUSG00000022847

Gene Name

thrombopoietin

Synonyms

Mpllg, TPO-3, TPO-4, TPO-2, TPO, TPO-1, myeloproliferative leukemia virus oncogene ligand

MMRRC Submission

040779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20543204-20553261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20547498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 38 (R38C)

Ref Sequence

ENSEMBL: ENSMUSP00000111097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007171] [ENSMUST00000076422] [ENSMUST00000115423] [ENSMUST00000115437] [ENSMUST00000153299] [ENSMUST00000231636] [ENSMUST00000231826] [ENSMUST00000232217] [ENSMUST00000231698] [ENSMUST00000232646]

AlphaFold

P40226

Predicted Effect

probably benign
Transcript: ENSMUST00000007171

SMART Domains

Protein: ENSMUSP00000007171
Gene: ENSMUSG00000006958

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VWC	51	125	9.33e-2	SMART
CHRD	170	274	1.27e-14	SMART
CHRD	281	395	4.63e-17	SMART
CHRD	400	517	7.81e-24	SMART
CHRD	528	643	2.03e-31	SMART
low complexity region	676	687	N/A	INTRINSIC
VWC	701	758	4.69e-10	SMART
VWC	779	845	5.3e-9	SMART
VWC	867	927	1.68e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000076422
AA Change: R38C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075756
Gene: ENSMUSG00000022847
AA Change: R38C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:EPO_TPO	24	188	9.4e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115423

SMART Domains

Protein: ENSMUSP00000111083
Gene: ENSMUSG00000006958

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VWC	51	125	9.33e-2	SMART
CHRD	170	274	1.27e-14	SMART
CHRD	281	395	4.63e-17	SMART
CHRD	400	517	7.81e-24	SMART
CHRD	528	605	3.92e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115437
AA Change: R38C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111097
Gene: ENSMUSG00000022847
AA Change: R38C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:EPO_TPO	25	193	5.4e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153299

SMART Domains

Protein: ENSMUSP00000138259
Gene: ENSMUSG00000006958

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VWC	51	125	9.33e-2	SMART
Blast:CHRD	170	236	1e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000231636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231689

Predicted Effect

probably damaging
Transcript: ENSMUST00000231826
AA Change: R38C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232217
AA Change: R67C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000231698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232020

Predicted Effect

probably benign
Transcript: ENSMUST00000232646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232104

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a humoral growth factor necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. The encoded protein is a ligand for the product of the myeloproliferative leukemia virus oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for targeted mutations at this locus are unable to produce normal amounts of megakaryocytes and platelets. [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
4930486L24Rik	A	G	13: 60,993,041 (GRCm39)	Y213H	probably damaging	Het
Alg8	C	T	7: 97,037,752 (GRCm39)	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Arid4a	A	G	12: 71,122,559 (GRCm39)	E980G	possibly damaging	Het
Aspm	C	T	1: 139,405,792 (GRCm39)	H1560Y	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
Bud13	A	C	9: 46,201,490 (GRCm39)	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,929,939 (GRCm39)	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,722,790 (GRCm39)	E476G	probably damaging	Het
Col2a1	T	C	15: 97,886,857 (GRCm39)	D345G	unknown	Het
Col2a1	A	T	15: 97,898,462 (GRCm39)		probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Dock4	G	T	12: 40,844,623 (GRCm39)		probably null	Het
Epx	A	T	11: 87,765,656 (GRCm39)	L101Q	probably damaging	Het
F13a1	A	T	13: 37,231,398 (GRCm39)	N21K	probably damaging	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Foxj3	T	A	4: 119,473,821 (GRCm39)	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,321,658 (GRCm39)	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,511,664 (GRCm39)	C139R	possibly damaging	Het
Lsamp	A	T	16: 41,954,675 (GRCm39)	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msn	C	A	X: 95,203,805 (GRCm39)	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,474,909 (GRCm39)	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nme2	T	A	11: 93,840,803 (GRCm39)	E252D	probably benign	Het
Ntpcr	G	A	8: 126,464,111 (GRCm39)	V79M	probably damaging	Het
Ogdh	C	T	11: 6,288,627 (GRCm39)	R235*	probably null	Het
Or10d1	A	G	9: 39,484,267 (GRCm39)	V96A	probably benign	Het
Or10w1	A	G	19: 13,632,321 (GRCm39)	D176G	probably benign	Het
Or9k2	C	A	10: 129,998,275 (GRCm39)	E307*	probably null	Het
P3r3urf	A	G	4: 116,030,718 (GRCm39)	T41A	probably benign	Het
Pcdh20	T	C	14: 88,705,899 (GRCm39)	N467S	probably benign	Het
Pkhd1	G	A	1: 20,604,853 (GRCm39)	T1154I	possibly damaging	Het
Polq	G	T	16: 36,898,711 (GRCm39)	R2157I	probably damaging	Het
Reep6	C	A	10: 80,171,723 (GRCm39)	A533E	probably damaging	Het
Senp2	T	C	16: 21,828,485 (GRCm39)	S32P	probably damaging	Het
Septin11	T	A	5: 93,296,258 (GRCm39)	I52N	probably damaging	Het
Shld2	T	C	14: 33,967,325 (GRCm39)	D77G	probably benign	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Spdye4b	C	T	5: 143,178,084 (GRCm39)	T11I	probably benign	Het
Srrt	C	T	5: 137,300,387 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,457,754 (GRCm39)	C3085S	probably damaging	Het
Stim1	C	T	7: 102,060,503 (GRCm39)	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,908,113 (GRCm39)	V217L	probably benign	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Trim12c	T	A	7: 103,990,075 (GRCm39)		probably benign	Het
Tvp23b	A	G	11: 62,774,455 (GRCm39)	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r73	A	G	7: 85,507,258 (GRCm39)	W685R	probably benign	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	Het
Zfp715	A	G	7: 42,949,180 (GRCm39)	V260A	probably benign	Het

Other mutations in Thpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Thpo	APN	16	20,547,205 (GRCm39)	missense	probably damaging	0.99
R1595:Thpo	UTSW	16	20,547,206 (GRCm39)	missense	probably damaging	1.00
R5911:Thpo	UTSW	16	20,547,546 (GRCm39)	missense	probably null	1.00
R6113:Thpo	UTSW	16	20,547,597 (GRCm39)	unclassified	probably benign
R6977:Thpo	UTSW	16	20,544,433 (GRCm39)	missense	probably damaging	0.99
R7769:Thpo	UTSW	16	20,544,401 (GRCm39)	missense	probably benign	0.00
R7862:Thpo	UTSW	16	20,547,540 (GRCm39)	missense	probably benign	0.06
R8079:Thpo	UTSW	16	20,545,144 (GRCm39)	missense	probably benign
R8281:Thpo	UTSW	16	20,544,525 (GRCm39)	missense	possibly damaging	0.91
R8804:Thpo	UTSW	16	20,544,707 (GRCm39)	missense	probably damaging	0.97
R8922:Thpo	UTSW	16	20,547,680 (GRCm39)	missense	unknown
R9101:Thpo	UTSW	16	20,544,557 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GGTGGTCTTCCTTAGTACCATG -3'
(R):5'- TTTCAGGTCTGGCCCAAATGG -3'

Sequencing Primer
(F):5'- TCATGCTGGAGCCTCTAAGAGAC -3'
(R):5'- CAAATGGGGATCCCTGAGTCAC -3'

Posted On

2015-04-06