Mutagenetix > Incidental Mutation

Incidental Mutation 'R5297:Mtpn'

405470

Institutional Source

Beutler Lab

Gene Symbol

Mtpn

Ensembl Gene

ENSMUSG00000029840

Gene Name

myotrophin

Synonyms

V1, Gcdp, 5033418D15Rik

MMRRC Submission

042880-MU

Accession Numbers

Essential gene?

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

Stock #

R5297 (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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,463,204 (GRCm39)	A135S	probably benign	Het
Agbl4	A	G	4: 111,423,895 (GRCm39)	K307R	possibly damaging	Het
Akna	T	C	4: 63,300,083 (GRCm39)	E653G	possibly damaging	Het
Arhgap26	T	C	18: 39,254,941 (GRCm39)	Y273H	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atp1a1	C	T	3: 101,498,443 (GRCm39)	V250M	possibly damaging	Het
Cacna1c	T	G	6: 118,719,322 (GRCm39)	D215A	probably damaging	Het
Cadps	T	A	14: 12,822,345 (GRCm38)	N132Y	probably damaging	Het
Casp6	T	C	3: 129,704,204 (GRCm39)	F97L	possibly damaging	Het
Ckap2l	T	C	2: 129,127,290 (GRCm39)	N296S	possibly damaging	Het
Col6a4	T	C	9: 105,952,066 (GRCm39)	K611E	probably benign	Het
Copa	A	G	1: 171,940,675 (GRCm39)	H696R	probably damaging	Het
Cyp2a4	T	A	7: 26,011,629 (GRCm39)	N283K	probably benign	Het
Dcc	C	T	18: 71,511,809 (GRCm39)	V869I	probably benign	Het
Efemp1	G	T	11: 28,817,868 (GRCm39)	G116C	probably damaging	Het
F830045P16Rik	T	C	2: 129,302,473 (GRCm39)	E373G	probably benign	Het
Fbxo9	T	C	9: 77,993,561 (GRCm39)	T318A	probably benign	Het
Gipr	A	G	7: 18,891,469 (GRCm39)	W403R	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Golgb1	G	A	16: 36,695,978 (GRCm39)		probably benign	Het
Hdac1-ps	A	G	17: 78,800,187 (GRCm39)	S393G	probably benign	Het
Herc3	T	C	6: 58,833,626 (GRCm39)	L171P	probably damaging	Het
Il5ra	A	G	6: 106,715,095 (GRCm39)	I221T	probably benign	Het
Itgb2	A	G	10: 77,400,501 (GRCm39)	I705V	probably damaging	Het
Map4k4	G	T	1: 40,001,377 (GRCm39)	V55F	probably damaging	Het
Mast1	A	G	8: 85,639,947 (GRCm39)		probably null	Het
Mitf	G	T	6: 97,971,391 (GRCm39)	G186V	probably benign	Het
Nrcam	T	C	12: 44,591,567 (GRCm39)	F204L	probably damaging	Het
Or10g1	A	G	14: 52,647,675 (GRCm39)	L218P	probably damaging	Het
Or10x4	A	G	1: 174,218,766 (GRCm39)	M44V	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e22	A	T	11: 73,377,215 (GRCm39)	V145E	probably damaging	Het
Or2a12	T	C	6: 42,904,371 (GRCm39)	S69P	probably benign	Het
Or52n4b	A	T	7: 108,144,611 (GRCm39)	N291I	probably damaging	Het
Or5as1	T	C	2: 86,980,793 (GRCm39)	I71V	probably benign	Het
Pclo	A	T	5: 14,726,263 (GRCm39)		probably benign	Het
Pik3ca	T	A	3: 32,504,202 (GRCm39)	Y631N	probably damaging	Het
Pramel19	T	A	4: 101,798,348 (GRCm39)	D106E	possibly damaging	Het
Ptk2b	T	C	14: 66,409,966 (GRCm39)	D462G	probably benign	Het
Rnf19a	A	G	15: 36,247,924 (GRCm39)	S427P	probably damaging	Het
Scn3a	T	A	2: 65,299,378 (GRCm39)	Y1376F	possibly damaging	Het
Shoc1	A	G	4: 59,047,543 (GRCm39)	W1359R	probably benign	Het
Spem1	A	G	11: 69,711,753 (GRCm39)	Y304H	probably damaging	Het
Stk38l	C	A	6: 146,677,153 (GRCm39)	Y450*	probably null	Het
Stx19	A	G	16: 62,642,337 (GRCm39)	E51G	probably damaging	Het
Ttc41	C	G	10: 86,612,443 (GRCm39)	Q1239E	probably benign	Het
Tuba3a	C	T	6: 125,258,303 (GRCm39)	R229H	probably damaging	Het
Utp18	A	T	11: 93,766,915 (GRCm39)	V264D	probably damaging	Het
V1rd19	T	C	7: 23,702,714 (GRCm39)	V60A	probably damaging	Het
Virma	T	G	4: 11,494,819 (GRCm39)	V40G	probably damaging	Het
Vmn1r160	C	T	7: 22,570,715 (GRCm39)	Q23*	probably null	Het
Vmn2r13	T	C	5: 109,339,805 (GRCm39)	I57V	probably benign	Het
Vmn2r26	T	A	6: 124,038,832 (GRCm39)	F802L	probably damaging	Het
Vmn2r61	A	G	7: 41,909,646 (GRCm39)	D57G	probably benign	Het
Vps13c	A	G	9: 67,785,413 (GRCm39)	N260S	probably damaging	Het
Xirp1	C	A	9: 119,848,668 (GRCm39)	A72S	probably damaging	Het
Zfp212	T	C	6: 47,906,011 (GRCm39)	V190A	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	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
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'- TCACCCTCTTAAAGTATTTAGCTGA -3'
(R):5'- GGTTAAGTGAGCTCCAACTCTCT -3'

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

Posted On

2016-07-22