Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:Mtpn'

453611

Institutional Source

Beutler Lab

Gene Symbol

Mtpn

Ensembl Gene

ENSMUSG00000029840

Gene Name

myotrophin

Synonyms

V1, Gcdp, 5033418D15Rik

MMRRC Submission

044064-MU

Accession Numbers

Essential gene?

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

Stock #

R5846 (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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,377 (GRCm39)	S335P	unknown	Het
Ace3	A	T	11: 105,889,188 (GRCm39)	I473F	probably benign	Het
Adcy2	T	A	13: 68,886,707 (GRCm39)	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,455,196 (GRCm39)	W275R	probably damaging	Het
Apmap	T	C	2: 150,450,341 (GRCm39)	D20G	probably damaging	Het
Arap2	T	C	5: 62,807,116 (GRCm39)	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,722,907 (GRCm39)	V303A	possibly damaging	Het
BC004004	A	T	17: 29,501,282 (GRCm39)		probably benign	Het
C1s1	G	A	6: 124,517,912 (GRCm39)	P23S	possibly damaging	Het
C1s2	T	A	6: 124,608,123 (GRCm39)	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,653,980 (GRCm39)	H539R	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Cct4	T	C	11: 22,951,354 (GRCm39)		probably benign	Het
Chrm2	A	T	6: 36,500,385 (GRCm39)	T81S	probably damaging	Het
Dnaaf3	A	T	7: 4,526,686 (GRCm39)	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,900,437 (GRCm39)	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dnajc13	T	C	9: 104,067,584 (GRCm39)	K1187E	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Dst	C	T	1: 34,234,942 (GRCm39)	Q3674*	probably null	Het
Eef1a2	T	C	2: 180,794,776 (GRCm39)	Y141C	probably damaging	Het
Fads3	G	T	19: 10,030,397 (GRCm39)	Q178H	probably null	Het
Fbxw22	T	A	9: 109,215,829 (GRCm39)	M140L	probably benign	Het
Fndc7	A	G	3: 108,788,707 (GRCm39)	I178T	probably damaging	Het
Foxd1	T	C	13: 98,491,549 (GRCm39)	M141T	probably damaging	Het
H4c2	T	C	13: 23,941,215 (GRCm39)	V71A	possibly damaging	Het
Havcr2	T	C	11: 46,360,343 (GRCm39)	I141T	probably benign	Het
Hectd1	A	C	12: 51,820,618 (GRCm39)	N1190K	probably damaging	Het
Hook3	T	A	8: 26,534,355 (GRCm39)		probably benign	Het
Hpgd	T	A	8: 56,760,702 (GRCm39)	I133N	possibly damaging	Het
Itih2	T	C	2: 10,102,714 (GRCm39)	R807G	probably benign	Het
Klhl35	G	A	7: 99,122,094 (GRCm39)	G65D	probably damaging	Het
Lrch4	C	G	5: 137,631,919 (GRCm39)	C48W	probably damaging	Het
Mafa	A	G	15: 75,619,627 (GRCm39)	S49P	probably benign	Het
Magi1	A	G	6: 93,662,584 (GRCm39)	V1170A	probably damaging	Het
Mprip	A	T	11: 59,649,380 (GRCm39)	K1028M	probably damaging	Het
Numb	G	T	12: 83,923,521 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,929,435 (GRCm39)	L6063P	probably damaging	Het
Or2y6	A	G	11: 52,103,881 (GRCm39)	*312Q	probably null	Het
Or6c6c	A	T	10: 129,540,756 (GRCm39)	N3I	probably damaging	Het
P3h3	A	T	6: 124,834,157 (GRCm39)		probably null	Het
Pi4k2a	A	G	19: 42,103,477 (GRCm39)	D329G	probably benign	Het
Ptch1	T	C	13: 63,713,268 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Sdk1	T	C	5: 142,100,148 (GRCm39)	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,185,880 (GRCm39)	M168L	probably benign	Het
Smurf1	T	C	5: 144,816,190 (GRCm39)	T722A	probably damaging	Het
Ssr2	C	T	3: 88,488,379 (GRCm39)	P85L	probably damaging	Het
Syne2	G	T	12: 76,074,898 (GRCm39)	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,288,521 (GRCm39)	G380V	possibly damaging	Het
Tk1	G	T	11: 117,706,748 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,241 (GRCm39)	S610T	probably benign	Het
Tmtc2	A	G	10: 105,107,302 (GRCm39)		probably benign	Het
Trim30b	A	G	7: 104,006,578 (GRCm39)	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,593,412 (GRCm39)	D126G	probably damaging	Het
Ttn	T	A	2: 76,733,812 (GRCm39)		probably benign	Het
Usp15	A	G	10: 123,017,647 (GRCm39)	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,404,492 (GRCm39)	F304I	probably benign	Het
Xirp2	T	A	2: 67,339,587 (GRCm39)	D609E	probably damaging	Het
Zan	C	T	5: 137,392,638 (GRCm39)		probably null	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
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
R9264:Mtpn	UTSW	6	35,489,176 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACCCTCTTAAAGTATTTAGCTGAAGA -3'
(R):5'- ACGGTTAAGTGAGCTCCAACT -3'

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

Posted On

2017-02-10