Mutagenetix > Incidental Mutation

Incidental Mutation 'R5337:Mtpn'

423566

Institutional Source

Beutler Lab

Gene Symbol

Mtpn

Ensembl Gene

ENSMUSG00000029840

Gene Name

myotrophin

Synonyms

V1, Gcdp, 5033418D15Rik

MMRRC Submission

042917-MU

Accession Numbers

Essential gene?

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

Stock #

R5337 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35485841-35516823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35489225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 100 (D100N)

Ref Sequence

ENSEMBL: ENSMUSP00000031866 (fasta)

Gene Model

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

AlphaFold

P62774

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031866
AA Change: D100N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031866
Gene: ENSMUSG00000029840
AA Change: D100N

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

Meta Mutation Damage Score

0.1901

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	T	A	11: 77,409,665 (GRCm39)		probably null	Het
Akap8l	A	G	17: 32,555,368 (GRCm39)	M237T	possibly damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Api5	G	T	2: 94,256,033 (GRCm39)	A218E	possibly damaging	Het
Bltp2	T	A	11: 78,156,034 (GRCm39)	I182N	possibly damaging	Het
Cfap68	C	A	9: 50,677,049 (GRCm39)	C14F	probably benign	Het
Cftr	A	G	6: 18,319,058 (GRCm39)	D1336G	probably damaging	Het
Chd1l	G	A	3: 97,469,932 (GRCm39)	R865W	probably damaging	Het
Cimip2b	C	T	4: 43,427,687 (GRCm39)		probably null	Het
Cmya5	T	C	13: 93,219,781 (GRCm39)	K3223E	probably benign	Het
Cspg4b	T	A	13: 113,455,299 (GRCm39)	H448Q	probably damaging	Het
Cuzd1	A	G	7: 130,917,803 (GRCm39)	Y266H	probably damaging	Het
Dnajc5b	A	T	3: 19,628,946 (GRCm39)	Y80F	probably damaging	Het
Dock6	A	G	9: 21,740,844 (GRCm39)	S915P	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fat4	A	G	3: 39,064,527 (GRCm39)	T4828A	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja3	T	G	14: 57,273,289 (GRCm39)	D361A	probably benign	Het
Gpr155	T	C	2: 73,178,592 (GRCm39)	E704G	probably benign	Het
Greb1l	A	G	18: 10,509,143 (GRCm39)	E485G	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
H6pd	A	G	4: 150,066,241 (GRCm39)	V715A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnip1	T	G	11: 33,592,389 (GRCm39)		probably benign	Het
Kif21b	T	C	1: 136,098,881 (GRCm39)	S1390P	probably damaging	Het
Lrrc61	G	A	6: 48,545,308 (GRCm39)	V44M	probably damaging	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mgat5	T	C	1: 127,387,658 (GRCm39)	F538S	possibly damaging	Het
Ndst1	A	T	18: 60,823,079 (GRCm39)	L829Q	probably damaging	Het
Neto1	A	T	18: 86,416,434 (GRCm39)	H47L	probably benign	Het
Or10ak11	T	C	4: 118,686,863 (GRCm39)	Y258C	probably benign	Het
Or10p22	A	G	10: 128,826,548 (GRCm39)	T256A	probably benign	Het
Or51r1	T	C	7: 102,228,481 (GRCm39)	S260P	probably damaging	Het
Or5p61	A	T	7: 107,758,480 (GRCm39)	V200D	probably benign	Het
Or6c214	A	T	10: 129,590,403 (GRCm39)	C305*	probably null	Het
Pds5b	T	C	5: 150,717,062 (GRCm39)	F1120L	probably benign	Het
Phkb	A	G	8: 86,604,874 (GRCm39)	Y93C	probably damaging	Het
Pilra	C	T	5: 137,834,032 (GRCm39)		probably benign	Het
Pmvk	T	C	3: 89,375,878 (GRCm39)	V146A	probably benign	Het
Proz	T	A	8: 13,116,854 (GRCm39)	D135E	probably benign	Het
Psg23	A	T	7: 18,345,997 (GRCm39)	W233R	probably benign	Het
Rgl2	A	T	17: 34,153,958 (GRCm39)	I455F	probably damaging	Het
Rhpn1	A	G	15: 75,580,054 (GRCm39)	Q39R	probably benign	Het
Rims4	T	G	2: 163,707,763 (GRCm39)	M100L	probably benign	Het
Sacs	T	A	14: 61,430,963 (GRCm39)		probably benign	Het
Slfn4	T	C	11: 83,080,055 (GRCm39)	F189L	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tmem127	T	C	2: 127,098,065 (GRCm39)	Y129H	probably damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Trpc3	A	T	3: 36,692,519 (GRCm39)		probably benign	Het
Tsga10ip	A	T	19: 5,444,363 (GRCm39)	S23T	probably benign	Het
Tut7	G	A	13: 59,939,666 (GRCm39)	T695I	probably damaging	Het
Uspl1	T	C	5: 149,151,556 (GRCm39)	S720P	probably damaging	Het
Zc3h18	A	G	8: 123,113,641 (GRCm39)	D211G	probably damaging	Het
Zswim4	G	A	8: 84,961,708 (GRCm39)	P55L	probably damaging	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
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
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'- CCTTCACCCTCTTAAAGTATTTAGC -3'
(R):5'- CGGTTAAGTGAGCTCCAACTCT -3'

Sequencing Primer
(F):5'- CACCCTCTTAAAGTATTTAGCTGAAG -3'
(R):5'- TGAATCAGATGTAAGCTCTCAGC -3'

Posted On

2016-08-04