Mutagenetix > Incidental Mutation

Incidental Mutation 'R2109:Mttp'

232342

Institutional Source

Beutler Lab

Gene Symbol

Mttp

Ensembl Gene

ENSMUSG00000028158

Gene Name

microsomal triglyceride transfer protein

Synonyms

1810043K16Rik, MTP

MMRRC Submission

040113-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R2109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137795616-137849179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137800763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 766 (F766I)

Ref Sequence

ENSEMBL: ENSMUSP00000029805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029805] [ENSMUST00000098580]

AlphaFold

O08601

Predicted Effect

probably benign
Transcript: ENSMUST00000029805
AA Change: F766I

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: F766I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LPD_N	28	579	8.87e-165	SMART
Blast:LPD_N	582	695	4e-58	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000098580
AA Change: F781I

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: F781I

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LPD_N	43	594	8.87e-165	SMART
Blast:LPD_N	597	710	6e-58	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most embryos homozygous for a reporter allele die at midgestation displaying delayed growth, neurodevelopmental anomalies, impaired erythropoiesis, deficient yolk sac lipoprotein production, hemorrhage and necrosis. Heterozygous mutant mice display altered plasma lipid and lipoprotein profiles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	G	T	7: 43,900,435 (GRCm39)	R113S	probably benign	Het
Ackr2	A	T	9: 121,738,026 (GRCm39)	I134F	probably damaging	Het
Actr3b	T	A	5: 26,036,709 (GRCm39)	I174N	possibly damaging	Het
Akap9	T	A	5: 4,094,847 (GRCm39)	S2214T	possibly damaging	Het
Arhgef12	C	A	9: 42,890,768 (GRCm39)	R986L	possibly damaging	Het
Brap	G	T	5: 121,801,422 (GRCm39)	S59I	possibly damaging	Het
Btnl1	C	T	17: 34,598,578 (GRCm39)	H65Y	probably damaging	Het
C1s2	T	C	6: 124,612,004 (GRCm39)	T121A	probably damaging	Het
Capn1	T	A	19: 6,064,388 (GRCm39)	Y37F	probably benign	Het
Ccdc39	T	C	3: 33,869,650 (GRCm39)	K726E	probably damaging	Het
Cd300lb	G	A	11: 114,816,865 (GRCm39)	S195F	probably damaging	Het
Cenpf	T	C	1: 189,411,264 (GRCm39)	K307E	probably damaging	Het
Chodl	A	C	16: 78,738,251 (GRCm39)	N73T	possibly damaging	Het
Cimip2c	G	A	5: 30,637,851 (GRCm39)	G66E	probably damaging	Het
Crnn	A	T	3: 93,055,747 (GRCm39)	M178L	probably benign	Het
Cyp4a12b	A	G	4: 115,290,110 (GRCm39)	D221G	probably damaging	Het
Dipk2a	A	T	9: 94,406,498 (GRCm39)	I303N	probably damaging	Het
Dmxl2	A	G	9: 54,301,097 (GRCm39)	V2338A	probably benign	Het
Dnah9	G	T	11: 65,928,411 (GRCm39)	P2086Q	probably damaging	Het
Dsg2	A	G	18: 20,725,346 (GRCm39)	I486V	probably benign	Het
E2f8	A	G	7: 48,524,855 (GRCm39)	S265P	probably damaging	Het
Eif1b	A	G	9: 120,323,296 (GRCm39)	D52G	probably benign	Het
Etl4	A	T	2: 20,790,153 (GRCm39)	T602S	probably benign	Het
Exoc3l2	A	T	7: 19,223,059 (GRCm39)		probably benign	Het
Fbxl6	C	A	15: 76,421,173 (GRCm39)	V297F	probably damaging	Het
Fgr	T	A	4: 132,725,786 (GRCm39)	N398K	probably benign	Het
G3bp1	A	G	11: 55,379,986 (GRCm39)	R107G	probably damaging	Het
Gp2	A	T	7: 119,052,155 (GRCm39)	N186K	probably benign	Het
Hbs1l	T	A	10: 21,217,831 (GRCm39)	L249*	probably null	Het
Hmgcs2	T	A	3: 98,204,337 (GRCm39)	L246*	probably null	Het
Hsp90ab1	G	T	17: 45,880,254 (GRCm39)	H96Q	probably benign	Het
Ibtk	C	T	9: 85,588,603 (GRCm39)	V1078I	probably benign	Het
Ltn1	T	C	16: 87,212,530 (GRCm39)	D677G	probably benign	Het
Lyst	C	T	13: 13,887,405 (GRCm39)	T3078I	possibly damaging	Het
Mamdc4	A	G	2: 25,459,402 (GRCm39)	F199S	probably damaging	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mki67	G	A	7: 135,299,592 (GRCm39)	T1814I	probably damaging	Het
Msantd5l	T	A	11: 51,145,264 (GRCm39)	I108F	possibly damaging	Het
Nbl1	T	A	4: 138,810,915 (GRCm39)		probably null	Het
Nmrk1	T	A	19: 18,618,802 (GRCm39)	L118Q	probably damaging	Het
Nopchap1	C	T	10: 83,201,656 (GRCm39)	S143L	probably damaging	Het
Oog3	A	T	4: 143,886,082 (GRCm39)	L172H	probably damaging	Het
Or2y11	T	G	11: 49,443,260 (GRCm39)	S229A	probably damaging	Het
Osbpl1a	T	G	18: 12,892,457 (GRCm39)	Q332P	probably damaging	Het
Pik3cg	A	G	12: 32,243,709 (GRCm39)	F921L	possibly damaging	Het
Plch2	T	C	4: 155,069,054 (GRCm39)	S1086G	possibly damaging	Het
Plekha5	A	G	6: 140,369,942 (GRCm39)	T18A	possibly damaging	Het
Pogz	T	A	3: 94,786,276 (GRCm39)	S955T	probably benign	Het
Pot1b	A	T	17: 55,960,413 (GRCm39)	I639N	probably benign	Het
Prkdc	T	C	16: 15,505,254 (GRCm39)	I852T	probably benign	Het
Prps1l1	A	G	12: 35,035,521 (GRCm39)	K212R	probably benign	Het
Ptpn5	A	G	7: 46,735,807 (GRCm39)	Y304H	probably damaging	Het
Ralgapa1	A	G	12: 55,822,973 (GRCm39)	I281T	possibly damaging	Het
Rgs22	A	T	15: 36,099,880 (GRCm39)	Y278*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	T	A	11: 119,333,489 (GRCm39)	Y2899*	probably null	Het
Rttn	C	T	18: 89,004,197 (GRCm39)	T397I	possibly damaging	Het
Sacs	G	T	14: 61,410,902 (GRCm39)		probably null	Het
Sbf2	G	T	7: 110,060,419 (GRCm39)	Q182K	probably damaging	Het
Sec14l5	C	T	16: 4,984,968 (GRCm39)	R105*	probably null	Het
Sh2b1	A	T	7: 126,071,536 (GRCm39)	D216E	possibly damaging	Het
Sh3gl3	A	G	7: 81,920,008 (GRCm39)	N72S	possibly damaging	Het
Slc12a1	A	T	2: 125,015,619 (GRCm39)	I391F	probably damaging	Het
Slc36a2	G	A	11: 55,072,381 (GRCm39)	A77V	probably damaging	Het
Smc2	A	T	4: 52,474,987 (GRCm39)	I888L	probably benign	Het
Smoc1	C	T	12: 81,197,450 (GRCm39)	T194M	probably damaging	Het
Sorcs1	C	T	19: 50,666,630 (GRCm39)	G93R	probably benign	Het
Sox30	T	G	11: 45,882,595 (GRCm39)	F542V	probably damaging	Het
Svep1	A	G	4: 58,206,030 (GRCm39)	V116A	possibly damaging	Het
Synj2	A	G	17: 6,063,966 (GRCm39)	D330G	probably benign	Het
Tenm3	A	C	8: 48,796,384 (GRCm39)	S202A	possibly damaging	Het
Tg	C	T	15: 66,601,443 (GRCm39)	T151I	probably benign	Het
Tnfaip2	A	G	12: 111,414,527 (GRCm39)	E361G	probably damaging	Het
Tnk1	A	T	11: 69,746,009 (GRCm39)	D305E	probably damaging	Het
Tpp1	A	G	7: 105,399,177 (GRCm39)	L133P	probably damaging	Het
Trappc1	T	A	11: 69,215,243 (GRCm39)	M41K	probably damaging	Het
Tsen54	A	G	11: 115,706,549 (GRCm39)	D9G	probably damaging	Het
Ttn	T	A	2: 76,804,598 (GRCm39)	I225F	probably damaging	Het
Ube4b	T	C	4: 149,457,298 (GRCm39)	K313R	probably benign	Het
Vps50	T	C	6: 3,555,379 (GRCm39)	V425A	probably damaging	Het
Wbp2	A	T	11: 115,971,445 (GRCm39)	Y153*	probably null	Het
Xrn1	A	G	9: 95,861,273 (GRCm39)	S478G	probably benign	Het
Zfp354c	T	C	11: 50,707,969 (GRCm39)	E77G	probably benign	Het
Zfp462	T	C	4: 55,008,496 (GRCm39)	M154T	probably benign	Het
Zfp704	A	G	3: 9,539,585 (GRCm39)	V255A	probably damaging	Het
Zfp763	G	T	17: 33,238,752 (GRCm39)	A131E	probably benign	Het
Zfp931	A	T	2: 177,711,651 (GRCm39)	V32E	probably null	Het

Other mutations in Mttp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00722:Mttp	APN	3	137,814,776 (GRCm39)	missense	possibly damaging	0.84
IGL00983:Mttp	APN	3	137,820,890 (GRCm39)	splice site	probably benign
IGL01128:Mttp	APN	3	137,839,758 (GRCm39)	splice site	probably null
IGL01607:Mttp	APN	3	137,810,459 (GRCm39)	missense	probably damaging	0.99
IGL01760:Mttp	APN	3	137,817,497 (GRCm39)	missense	probably benign	0.00
IGL01947:Mttp	APN	3	137,812,890 (GRCm39)	missense	probably damaging	1.00
IGL02184:Mttp	APN	3	137,821,761 (GRCm39)	critical splice donor site	probably null
IGL02932:Mttp	APN	3	137,817,505 (GRCm39)	missense	probably benign	0.07
IGL02957:Mttp	APN	3	137,814,842 (GRCm39)	missense	possibly damaging	0.95
IGL03082:Mttp	APN	3	137,829,556 (GRCm39)	missense	probably benign	0.01
IGL03302:Mttp	APN	3	137,810,468 (GRCm39)	missense	possibly damaging	0.90
IGL03381:Mttp	APN	3	137,810,704 (GRCm39)	missense	probably damaging	1.00
G1patch:Mttp	UTSW	3	137,812,999 (GRCm39)	missense	probably damaging	1.00
P0040:Mttp	UTSW	3	137,818,327 (GRCm39)	missense	possibly damaging	0.82
R0543:Mttp	UTSW	3	137,817,457 (GRCm39)	missense	possibly damaging	0.75
R0738:Mttp	UTSW	3	137,809,074 (GRCm39)	missense	probably damaging	1.00
R0967:Mttp	UTSW	3	137,798,484 (GRCm39)	missense	probably benign	0.00
R1281:Mttp	UTSW	3	137,812,980 (GRCm39)	missense	possibly damaging	0.95
R1565:Mttp	UTSW	3	137,822,166 (GRCm39)	critical splice donor site	probably null
R1660:Mttp	UTSW	3	137,808,954 (GRCm39)	missense	probably damaging	1.00
R1828:Mttp	UTSW	3	137,813,041 (GRCm39)	missense	probably damaging	1.00
R1886:Mttp	UTSW	3	137,798,376 (GRCm39)	missense	probably damaging	1.00
R1912:Mttp	UTSW	3	137,821,788 (GRCm39)	missense	probably benign	0.01
R1938:Mttp	UTSW	3	137,830,882 (GRCm39)	missense	probably benign	0.21
R2020:Mttp	UTSW	3	137,824,163 (GRCm39)	missense	probably damaging	0.98
R2336:Mttp	UTSW	3	137,821,856 (GRCm39)	missense	possibly damaging	0.81
R2392:Mttp	UTSW	3	137,800,782 (GRCm39)	missense	probably damaging	0.98
R3021:Mttp	UTSW	3	137,817,464 (GRCm39)	missense	probably benign
R3774:Mttp	UTSW	3	137,820,024 (GRCm39)	splice site	probably null
R3776:Mttp	UTSW	3	137,820,024 (GRCm39)	splice site	probably null
R4687:Mttp	UTSW	3	137,798,496 (GRCm39)	missense	possibly damaging	0.66
R4708:Mttp	UTSW	3	137,839,859 (GRCm39)	unclassified	probably benign
R4756:Mttp	UTSW	3	137,821,832 (GRCm39)	missense	possibly damaging	0.77
R4832:Mttp	UTSW	3	137,821,811 (GRCm39)	missense	probably benign
R5377:Mttp	UTSW	3	137,810,790 (GRCm39)	missense	probably benign	0.03
R5670:Mttp	UTSW	3	137,830,874 (GRCm39)	missense	probably damaging	0.99
R6613:Mttp	UTSW	3	137,814,839 (GRCm39)	missense	probably damaging	1.00
R6725:Mttp	UTSW	3	137,812,999 (GRCm39)	missense	probably damaging	1.00
R6799:Mttp	UTSW	3	137,800,841 (GRCm39)	missense	probably benign	0.04
R6920:Mttp	UTSW	3	137,821,043 (GRCm39)	missense	possibly damaging	0.49
R7074:Mttp	UTSW	3	137,813,034 (GRCm39)	missense	possibly damaging	0.53
R7131:Mttp	UTSW	3	137,821,893 (GRCm39)	missense	probably benign	0.13
R7275:Mttp	UTSW	3	137,829,546 (GRCm39)	missense	probably benign	0.19
R7291:Mttp	UTSW	3	137,796,964 (GRCm39)	missense	probably damaging	1.00
R7310:Mttp	UTSW	3	137,800,783 (GRCm39)	missense	probably damaging	1.00
R7769:Mttp	UTSW	3	137,808,873 (GRCm39)	missense	probably damaging	1.00
R7909:Mttp	UTSW	3	137,824,178 (GRCm39)	nonsense	probably null
R8037:Mttp	UTSW	3	137,796,883 (GRCm39)	missense	probably damaging	1.00
R8220:Mttp	UTSW	3	137,829,609 (GRCm39)	missense	probably benign	0.00
R8335:Mttp	UTSW	3	137,808,973 (GRCm39)	missense	possibly damaging	0.90
R8352:Mttp	UTSW	3	137,818,374 (GRCm39)	missense	probably damaging	1.00
R8452:Mttp	UTSW	3	137,818,374 (GRCm39)	missense	probably damaging	1.00
R8536:Mttp	UTSW	3	137,810,704 (GRCm39)	missense	probably damaging	1.00
R8677:Mttp	UTSW	3	137,810,437 (GRCm39)	missense	probably benign	0.00
R8877:Mttp	UTSW	3	137,818,317 (GRCm39)	missense	probably damaging	0.99
R9233:Mttp	UTSW	3	137,822,280 (GRCm39)	missense	probably damaging	1.00
R9237:Mttp	UTSW	3	137,810,444 (GRCm39)	missense	probably benign
R9427:Mttp	UTSW	3	137,820,962 (GRCm39)	missense	probably benign	0.01
R9749:Mttp	UTSW	3	137,830,989 (GRCm39)	missense	probably damaging	0.99
R9797:Mttp	UTSW	3	137,814,725 (GRCm39)	missense	probably damaging	0.96
Z1176:Mttp	UTSW	3	137,810,540 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACTGACCTGTTTCTAAGACAC -3'
(R):5'- CTCCAGCAGAGGACTGTAGATC -3'

Sequencing Primer
(F):5'- ACAGTCGTTTCTAATCCCATGG -3'
(R):5'- TCAGGAAGCCAAGTGTGTCTC -3'

Posted On

2014-09-18