Incidental Mutation 'R3021:Mttp'
ID 257739
Institutional Source Beutler Lab
Gene Symbol Mttp
Ensembl Gene ENSMUSG00000028158
Gene Name microsomal triglyceride transfer protein
Synonyms 1810043K16Rik, MTP
Accession Numbers
Essential gene? Probably essential (E-score: 0.893) question?
Stock # R3021 (G1)
Quality Score 170
Status Not validated
Chromosome 3
Chromosomal Location 137795616-137849179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137817464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 444 (M444V)
Ref Sequence ENSEMBL: ENSMUSP00000096179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029805] [ENSMUST00000098580]
AlphaFold O08601
Predicted Effect probably benign
Transcript: ENSMUST00000029805
AA Change: M429V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: M429V

DomainStartEndE-ValueType
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: M444V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: M444V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LPD_N 43 594 8.87e-165 SMART
Blast:LPD_N 597 710 6e-58 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196625
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.0%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1c1 T C 15: 38,689,460 (GRCm39) V307A possibly damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Ccdc85a T C 11: 28,526,894 (GRCm39) E210G possibly damaging Het
Dennd1c C T 17: 57,381,180 (GRCm39) probably null Het
Eng T C 2: 32,568,580 (GRCm39) V474A probably damaging Het
Fam114a2 T C 11: 57,390,625 (GRCm39) D303G probably benign Het
Fat1 T A 8: 45,497,048 (GRCm39) C4178S probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Inpp4b A T 8: 82,629,467 (GRCm39) E267D possibly damaging Het
Itch A G 2: 155,051,046 (GRCm39) K578E possibly damaging Het
Or2a56 T C 6: 42,933,118 (GRCm39) S229P possibly damaging Het
Pgm3 A T 9: 86,449,588 (GRCm39) V144E possibly damaging Het
Ppp3cb A T 14: 20,573,921 (GRCm39) Y271* probably null Het
Pramel31 T A 4: 144,088,369 (GRCm39) M55K probably damaging Het
Ptk2b A T 14: 66,415,632 (GRCm39) probably null Het
Rdh1 G A 10: 127,596,077 (GRCm39) V91M possibly damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Smad2 T G 18: 76,395,703 (GRCm39) S47R probably damaging Het
Smchd1 G T 17: 71,694,093 (GRCm39) S1217R possibly damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Other mutations in Mttp
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2109:Mttp UTSW 3 137,800,763 (GRCm39) missense probably benign 0.27
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
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'- ACACTGGACAGTCTAGACGC -3'
(R):5'- AGGCAGTCTAGCAATCCTTC -3'

Sequencing Primer
(F):5'- ACGCAGTGGGCACAAGTC -3'
(R):5'- TCTAGCAATCCTTCATGCAAAACTAG -3'
Posted On 2015-01-11