Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Mtpn'

158941

Institutional Source

Beutler Lab

Gene Symbol

Mtpn

Ensembl Gene

ENSMUSG00000029840

Gene Name

myotrophin

Synonyms

V1, Gcdp, 5033418D15Rik

MMRRC Submission

039516-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35485841-35516823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35499693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 37 (K37M)

Ref Sequence

ENSEMBL: ENSMUSP00000031866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031866] [ENSMUST00000201026]

AlphaFold

P62774

PDB Structure

Solution NMR structure of V-1 bound to capping protein (CP) [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031866
AA Change: K37M

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031866
Gene: ENSMUSG00000029840
AA Change: K37M

Domain	Start	End	E-Value	Type
Blast:ANK	1	30	8e-9	BLAST
ANK	34	63	7.64e-6	SMART
ANK	67	96	1.14e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175136

Predicted Effect

probably benign
Transcript: ENSMUST00000201026
AA Change: K30M

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144482
Gene: ENSMUSG00000029840
AA Change: K30M

Domain	Start	End	E-Value	Type
ANK	27	56	5e-8	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 92.6%
20x: 79.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,763,739 (GRCm39)	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Fam20a	A	C	11: 109,568,143 (GRCm39)	F316V	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Fnta	A	C	8: 26,489,599 (GRCm39)		probably null	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Il17rc	A	T	6: 113,455,950 (GRCm39)	D265V	probably damaging	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or5w13	A	T	2: 87,523,720 (GRCm39)	C169S	probably damaging	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Rchy1	T	A	5: 92,105,741 (GRCm39)	Q69L	probably damaging	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,803,108 (GRCm39)	V560A	probably benign	Het

Other mutations in Mtpn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Mtpn	APN	6	35,499,711 (GRCm39)	missense	probably damaging	0.96
IGL00957:Mtpn	APN	6	35,516,547 (GRCm39)	utr 5 prime	probably benign
IGL03238:Mtpn	APN	6	35,499,708 (GRCm39)	missense	probably damaging	1.00
lamco	UTSW	6	35,499,693 (GRCm39)	missense	possibly damaging	0.65
R0972:Mtpn	UTSW	6	35,498,911 (GRCm39)	missense	probably null	0.78
R1311:Mtpn	UTSW	6	35,489,185 (GRCm39)	missense	possibly damaging	0.94
R1462:Mtpn	UTSW	6	35,499,693 (GRCm39)	missense	possibly damaging	0.65
R3076:Mtpn	UTSW	6	35,498,879 (GRCm39)	missense	possibly damaging	0.67
R5297:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5334:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5336:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5337:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5512:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5809:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5841:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5842:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5843:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5844:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R5846:Mtpn	UTSW	6	35,489,225 (GRCm39)	missense	probably benign	0.00
R9264:Mtpn	UTSW	6	35,489,176 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACCTACAGTGTCAACTTGGCAAGG -3'
(R):5'- TGGTAAGCTACCTGCATTGGAAGC -3'

Sequencing Primer
(F):5'- GTCAACTTGGCAAGGTTTAGAAC -3'
(R):5'- TGCATTGGAAGCCATGCC -3'

Posted On

2014-03-14