Mutagenetix > Incidental Mutation

Incidental Mutation 'R5334:Mtpn'

423405

Institutional Source

Beutler Lab

Gene Symbol

Mtpn

Ensembl Gene

ENSMUSG00000029840

Gene Name

myotrophin

Synonyms

V1, Gcdp, 5033418D15Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.405) question?

Stock #

R5334 (G1)

Quality Score

225

Status

Not 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: 97.3%
20x: 95.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ap4s1	C	T	12: 51,785,454 (GRCm39)	S142L	probably benign	Het
Apol11a	A	G	15: 77,400,953 (GRCm39)	T147A	probably benign	Het
Aqp9	T	C	9: 71,030,292 (GRCm39)		probably null	Het
Arhgap25	T	A	6: 87,440,243 (GRCm39)	N468I	possibly damaging	Het
Arhgef2	T	A	3: 88,553,636 (GRCm39)	S924R	probably damaging	Het
Atad3a	A	T	4: 155,840,146 (GRCm39)	L144Q	probably damaging	Het
Ccbe1	T	C	18: 66,216,316 (GRCm39)	I136V	probably damaging	Het
Col24a1	C	A	3: 145,167,280 (GRCm39)	P1119Q	possibly damaging	Het
Dgkd	T	C	1: 87,865,989 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,542,805 (GRCm39)	I2455T	probably benign	Het
Dock2	T	C	11: 34,178,643 (GRCm39)	T1795A	probably benign	Het
Dpp6	A	T	5: 27,914,538 (GRCm39)	E541V	probably benign	Het
Edem1	T	C	6: 108,825,793 (GRCm39)		probably null	Het
Fbxo41	A	G	6: 85,455,465 (GRCm39)	V573A	probably damaging	Het
Fech	A	C	18: 64,597,191 (GRCm39)	V256G	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gal3st4	T	G	5: 138,263,983 (GRCm39)	K339Q	probably benign	Het
Gpr158	T	A	2: 21,832,316 (GRCm39)	S1139T	probably benign	Het
Gpr180	A	T	14: 118,397,468 (GRCm39)	S321C	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
Grin2c	T	G	11: 115,146,881 (GRCm39)	N438T	possibly damaging	Het
Hcn2	T	C	10: 79,562,125 (GRCm39)	S374P	probably damaging	Het
Hmcn1	T	A	1: 150,631,123 (GRCm39)	I892F	probably damaging	Het
Ifi207	C	T	1: 173,555,097 (GRCm39)	V869I	probably benign	Het
Itgad	T	C	7: 127,788,458 (GRCm39)	Y390H	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnj15	A	G	16: 95,097,508 (GRCm39)	K377E	probably damaging	Het
Kcnq3	A	G	15: 65,897,073 (GRCm39)	S276P	probably damaging	Het
Klhl26	T	C	8: 70,904,968 (GRCm39)	D280G	probably damaging	Het
Lmnb2	C	T	10: 80,739,791 (GRCm39)	V376I	probably benign	Het
Lrrc37	T	C	11: 103,504,699 (GRCm39)	Q2423R	probably benign	Het
Mepce	T	A	5: 137,784,889 (GRCm39)	R29S	probably benign	Het
Mlh3	A	G	12: 85,292,535 (GRCm39)		probably null	Het
Mlip	T	A	9: 77,150,958 (GRCm39)	T33S	probably damaging	Het
Msantd5f6	T	A	4: 73,321,754 (GRCm39)	M94L	probably benign	Het
Ncapg2	T	C	12: 116,390,257 (GRCm39)	I402T	probably damaging	Het
Or2aj6	C	G	16: 19,443,241 (GRCm39)	G203A	probably benign	Het
Or5m13b	T	C	2: 85,754,058 (GRCm39)	Y149H	probably damaging	Het
Pcsk5	T	C	19: 17,439,215 (GRCm39)	D1301G	probably benign	Het
Pilrb1	T	C	5: 137,853,165 (GRCm39)	M213V	probably benign	Het
Plxdc1	T	C	11: 97,846,931 (GRCm39)	T163A	possibly damaging	Het
Pnpla2	T	C	7: 141,039,406 (GRCm39)	L373P	probably damaging	Het
Prickle2	A	G	6: 92,402,665 (GRCm39)	Y52H	probably damaging	Het
Rnf220	A	G	4: 117,129,548 (GRCm39)	C294R	probably damaging	Het
Slc12a1	A	G	2: 125,059,809 (GRCm39)	D903G	probably damaging	Het
Slc34a1	T	C	13: 24,003,034 (GRCm39)	F228S	probably damaging	Het
Sptbn1	T	C	11: 30,087,364 (GRCm39)	E1025G	possibly damaging	Het
Sult1c2	T	G	17: 54,271,758 (GRCm39)	D143A	probably damaging	Het
Taar1	T	G	10: 23,796,443 (GRCm39)	I47R	probably damaging	Het
Tctn3	G	T	19: 40,591,266 (GRCm39)	Q514K	probably benign	Het
Tg	T	C	15: 66,549,904 (GRCm39)	F222S	probably damaging	Het
Tmem236	C	A	2: 14,223,871 (GRCm39)	T220K	possibly damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Vmn1r237	T	C	17: 21,534,942 (GRCm39)	F222L	probably benign	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Zfp85	T	C	13: 67,899,803 (GRCm39)	Y52C	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
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'- TTCACCCTCTTAAAGTATTTAGCTGAA -3'
(R):5'- ACGGTTAAGTGAGCTCCAACTC -3'

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

Posted On

2016-08-04