Incidental Mutation 'R7635:Mpp3'
ID 589906
Institutional Source Beutler Lab
Gene Symbol Mpp3
Ensembl Gene ENSMUSG00000052373
Gene Name membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)
Synonyms Dlgh3
MMRRC Submission 045694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7635 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101890478-101919287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101916209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 48 (K48E)
Ref Sequence ENSEMBL: ENSMUSP00000055469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062801] [ENSMUST00000100400] [ENSMUST00000107167] [ENSMUST00000107168]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000062801
AA Change: K48E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055469
Gene: ENSMUSG00000052373
AA Change: K48E

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 218 1.06e-13 SMART
SH3 229 295 7.7e-9 SMART
GuKc 384 573 1.76e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100400
AA Change: K48E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097969
Gene: ENSMUSG00000052373
AA Change: K48E

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 218 1.06e-13 SMART
SH3 229 295 7.7e-9 SMART
GuKc 384 573 1.76e-70 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107167
AA Change: K48E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102785
Gene: ENSMUSG00000052373
AA Change: K48E

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 215 5.86e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107168
AA Change: K48E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102786
Gene: ENSMUSG00000052373
AA Change: K48E

DomainStartEndE-ValueType
L27 10 64 1.5e-8 SMART
L27 68 121 1.18e-15 SMART
PDZ 145 218 1.06e-13 SMART
SH3 229 295 7.7e-9 SMART
GuKc 384 573 1.76e-70 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A C 9: 108,274,605 (GRCm39) D236A probably damaging Het
Adamts7 C T 9: 90,077,298 (GRCm39) P1322S probably damaging Het
AI661453 A T 17: 47,778,676 (GRCm39) T801S unknown Het
Alpk1 A G 3: 127,489,310 (GRCm39) V123A probably benign Het
Ap2b1 T C 11: 83,280,554 (GRCm39) V827A probably benign Het
Aqp5 T A 15: 99,492,059 (GRCm39) I219N probably benign Het
Astn1 G A 1: 158,495,105 (GRCm39) W1051* probably null Het
Atp8b1 T C 18: 64,706,376 (GRCm39) D211G possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
Bsn A G 9: 107,988,189 (GRCm39) V2521A unknown Het
Car7 T C 8: 105,275,069 (GRCm39) V169A probably damaging Het
Catip T A 1: 74,408,121 (GRCm39) D484E unknown Het
Ccdc18 T C 5: 108,376,915 (GRCm39) probably null Het
Cdyl T C 13: 36,055,634 (GRCm39) V518A probably damaging Het
Cep350 A T 1: 155,754,767 (GRCm39) C1949* probably null Het
Cinp A G 12: 110,850,447 (GRCm39) V18A possibly damaging Het
Clec14a A G 12: 58,315,314 (GRCm39) C103R probably damaging Het
Cplane1 A G 15: 8,256,404 (GRCm39) I1955V probably benign Het
Dnah8 G C 17: 31,004,081 (GRCm39) E3655Q probably damaging Het
Dnajc11 T C 4: 152,053,068 (GRCm39) I164T probably damaging Het
Dnajc13 A T 9: 104,039,566 (GRCm39) M2101K probably benign Het
Ephb4 A G 5: 137,370,365 (GRCm39) D864G probably damaging Het
Fads2b T A 2: 85,330,581 (GRCm39) H242L probably benign Het
Fkbp5 T C 17: 28,647,335 (GRCm39) T167A probably benign Het
Foxf2 C A 13: 31,810,087 (GRCm39) P9T unknown Het
Frmpd2 C A 14: 33,222,920 (GRCm39) H105N possibly damaging Het
Gal3st3 C A 19: 5,357,434 (GRCm39) R270S probably damaging Het
Galnt13 A G 2: 54,747,829 (GRCm39) I237V probably damaging Het
Gata5 G T 2: 179,975,790 (GRCm39) Q125K possibly damaging Het
Gm10036 T A 18: 15,966,346 (GRCm39) F166I possibly damaging Het
Gon4l A G 3: 88,802,413 (GRCm39) N1008S probably benign Het
Got1l1 G A 8: 27,687,962 (GRCm39) L356F probably damaging Het
Gse1 A G 8: 121,299,634 (GRCm39) E888G unknown Het
Hmx1 C A 5: 35,549,583 (GRCm39) P292Q possibly damaging Het
Igkv7-33 A T 6: 70,036,138 (GRCm39) S16T probably benign Het
Itga2b C T 11: 102,352,582 (GRCm39) G424D probably damaging Het
Itga6 A T 2: 71,673,577 (GRCm39) K870N probably benign Het
Lama4 A T 10: 38,968,184 (GRCm39) Q1442L probably benign Het
Lamc1 C T 1: 153,124,806 (GRCm39) R655H probably damaging Het
Lclat1 C T 17: 73,468,931 (GRCm39) S37L probably benign Het
Lrp1b A G 2: 41,013,609 (GRCm39) probably null Het
Map3k20 T C 2: 72,232,348 (GRCm39) S335P probably benign Het
Micu3 A G 8: 40,819,275 (GRCm39) D318G possibly damaging Het
Mmp16 T C 4: 18,054,382 (GRCm39) I296T probably benign Het
Mmp20 A T 9: 7,639,335 (GRCm39) I168L probably benign Het
Muc5ac A T 7: 141,359,490 (GRCm39) T1317S possibly damaging Het
Muc5ac A T 7: 141,359,413 (GRCm39) D1291V probably damaging Het
Myl10 A T 5: 136,729,718 (GRCm39) M119L probably benign Het
Myo5b T A 18: 74,713,467 (GRCm39) V104E probably damaging Het
Nek10 G A 14: 14,850,932 (GRCm38) V326M probably benign Het
Or11l3 T A 11: 58,515,990 (GRCm39) E107D unknown Het
Or6c2 A T 10: 129,362,551 (GRCm39) M152L probably benign Het
Or6z1 G A 7: 6,504,581 (GRCm39) L221F probably benign Het
Pcnx1 A G 12: 81,965,899 (GRCm39) T161A Het
Peg10 T C 6: 4,754,938 (GRCm39) S240P probably damaging Het
Pex6 G A 17: 47,034,943 (GRCm39) V822M probably damaging Het
Pla2r1 T A 2: 60,365,106 (GRCm39) T155S probably benign Het
Pld5 A T 1: 175,821,416 (GRCm39) probably null Het
Plxna4 A G 6: 32,473,676 (GRCm39) V447A probably damaging Het
Pou2af1 T C 9: 51,144,283 (GRCm39) S66P probably benign Het
Pramel26 T C 4: 143,536,987 (GRCm39) E448G probably damaging Het
Prl2c2 T C 13: 13,171,928 (GRCm39) D147G probably damaging Het
Prune1 A G 3: 95,162,596 (GRCm39) L359P probably damaging Het
Rab4b A T 7: 26,875,642 (GRCm39) V13E probably damaging Het
Rbbp6 T G 7: 122,575,231 (GRCm39) V80G possibly damaging Het
Reep5 C T 18: 34,482,853 (GRCm39) G119S possibly damaging Het
Rem1 G C 2: 152,476,585 (GRCm39) R281P probably damaging Het
Rnf215 C T 11: 4,089,989 (GRCm39) R309C probably damaging Het
Scn4a C A 11: 106,215,458 (GRCm39) V1173F probably damaging Het
Serpine3 A T 14: 62,910,464 (GRCm39) I186F possibly damaging Het
Slc7a1 A G 5: 148,289,046 (GRCm39) V67A probably damaging Het
Smco2 A T 6: 146,761,507 (GRCm39) E142V possibly damaging Het
Spata25 G A 2: 164,669,889 (GRCm39) P41S probably benign Het
Specc1l A G 10: 75,112,638 (GRCm39) D955G probably damaging Het
Spns3 C T 11: 72,429,860 (GRCm39) probably null Het
Sptbn2 C T 19: 4,794,235 (GRCm39) R1480C probably damaging Het
Taf1a T C 1: 183,189,253 (GRCm39) probably null Het
Tas2r107 G T 6: 131,636,563 (GRCm39) T162K possibly damaging Het
Tcea1 T C 1: 4,959,774 (GRCm39) S139P probably benign Het
Tecta C T 9: 42,242,283 (GRCm39) V2102I probably benign Het
Tmem131 A T 1: 36,911,629 (GRCm39) I106K probably damaging Het
Tpbpb A G 13: 61,049,925 (GRCm39) V68A probably benign Het
Ttc27 A T 17: 75,025,710 (GRCm39) N61I probably benign Het
Ttn T C 2: 76,580,021 (GRCm39) N23624S probably damaging Het
Tut7 T C 13: 59,947,904 (GRCm39) K806E probably benign Het
Usp2 T C 9: 43,978,519 (GRCm39) probably null Het
Vmn1r10 A G 6: 57,091,026 (GRCm39) H206R probably benign Het
Vmn1r234 T C 17: 21,449,479 (GRCm39) I131T probably damaging Het
Vwf G T 6: 125,659,697 (GRCm39) R2632L Het
Wdr36 T C 18: 32,983,578 (GRCm39) L443P probably benign Het
Zfp143 T C 7: 109,688,025 (GRCm39) V489A probably benign Het
Zfp383 G A 7: 29,614,696 (GRCm39) R317Q probably damaging Het
Zswim8 A G 14: 20,766,368 (GRCm39) T839A probably damaging Het
Other mutations in Mpp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Mpp3 APN 11 101,892,929 (GRCm39) missense possibly damaging 0.76
IGL01337:Mpp3 APN 11 101,891,411 (GRCm39) missense probably benign
IGL01393:Mpp3 APN 11 101,916,304 (GRCm39) missense probably damaging 0.99
IGL01544:Mpp3 APN 11 101,909,485 (GRCm39) missense possibly damaging 0.91
IGL02152:Mpp3 APN 11 101,916,216 (GRCm39) nonsense probably null
IGL02441:Mpp3 APN 11 101,900,501 (GRCm39) missense probably benign 0.00
IGL02656:Mpp3 APN 11 101,899,427 (GRCm39) missense probably benign
R0013:Mpp3 UTSW 11 101,896,251 (GRCm39) missense probably benign 0.27
R0117:Mpp3 UTSW 11 101,891,399 (GRCm39) missense probably damaging 1.00
R0564:Mpp3 UTSW 11 101,896,173 (GRCm39) missense possibly damaging 0.87
R1372:Mpp3 UTSW 11 101,891,401 (GRCm39) missense probably damaging 0.96
R1531:Mpp3 UTSW 11 101,899,475 (GRCm39) missense probably benign
R1639:Mpp3 UTSW 11 101,914,268 (GRCm39) missense probably damaging 1.00
R1720:Mpp3 UTSW 11 101,916,582 (GRCm39) start codon destroyed possibly damaging 0.79
R1968:Mpp3 UTSW 11 101,909,378 (GRCm39) intron probably benign
R2064:Mpp3 UTSW 11 101,891,516 (GRCm39) missense probably benign 0.01
R2363:Mpp3 UTSW 11 101,911,312 (GRCm39) missense probably damaging 1.00
R3775:Mpp3 UTSW 11 101,914,193 (GRCm39) nonsense probably null
R3776:Mpp3 UTSW 11 101,914,193 (GRCm39) nonsense probably null
R4208:Mpp3 UTSW 11 101,891,426 (GRCm39) missense probably benign
R4287:Mpp3 UTSW 11 101,914,289 (GRCm39) missense probably damaging 1.00
R4327:Mpp3 UTSW 11 101,914,337 (GRCm39) intron probably benign
R4329:Mpp3 UTSW 11 101,914,337 (GRCm39) intron probably benign
R4367:Mpp3 UTSW 11 101,914,246 (GRCm39) missense probably benign 0.01
R4856:Mpp3 UTSW 11 101,915,962 (GRCm39) missense probably benign
R4886:Mpp3 UTSW 11 101,915,962 (GRCm39) missense probably benign
R4904:Mpp3 UTSW 11 101,891,413 (GRCm39) missense probably benign 0.01
R4946:Mpp3 UTSW 11 101,895,848 (GRCm39) missense probably benign 0.01
R5405:Mpp3 UTSW 11 101,901,047 (GRCm39) missense probably benign
R5935:Mpp3 UTSW 11 101,916,241 (GRCm39) missense probably damaging 1.00
R6020:Mpp3 UTSW 11 101,909,365 (GRCm39) intron probably benign
R6056:Mpp3 UTSW 11 101,902,515 (GRCm39) splice site probably null
R6151:Mpp3 UTSW 11 101,899,392 (GRCm39) missense probably benign 0.11
R6677:Mpp3 UTSW 11 101,899,444 (GRCm39) missense probably benign
R6784:Mpp3 UTSW 11 101,892,974 (GRCm39) critical splice acceptor site probably null
R6855:Mpp3 UTSW 11 101,904,151 (GRCm39) missense probably benign 0.09
R7227:Mpp3 UTSW 11 101,895,904 (GRCm39) missense possibly damaging 0.90
R7974:Mpp3 UTSW 11 101,899,180 (GRCm39) critical splice donor site probably null
R8330:Mpp3 UTSW 11 101,899,453 (GRCm39) missense probably benign 0.20
R8331:Mpp3 UTSW 11 101,902,541 (GRCm39) splice site probably null
R8993:Mpp3 UTSW 11 101,891,491 (GRCm39) missense probably benign 0.03
R9154:Mpp3 UTSW 11 101,911,328 (GRCm39) missense
R9593:Mpp3 UTSW 11 101,907,506 (GRCm39) missense possibly damaging 0.88
R9655:Mpp3 UTSW 11 101,899,481 (GRCm39) missense probably benign
Z1176:Mpp3 UTSW 11 101,899,182 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GGAGTTTCTCATGAATCTGCAAAGAC -3'
(R):5'- TCAAGGACAGGAAGTGCCAC -3'

Sequencing Primer
(F):5'- ATACACAGCACCCAGGGTTGTG -3'
(R):5'- AAGTGCCACTGTTACTGGAC -3'
Posted On 2019-10-24