Incidental Mutation 'R5779:Mpp4'
ID 446856
Institutional Source Beutler Lab
Gene Symbol Mpp4
Ensembl Gene ENSMUSG00000079550
Gene Name membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
Synonyms DLG6
MMRRC Submission 043377-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5779 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 59160094-59202548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59190825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 90 (A90V)
Ref Sequence ENSEMBL: ENSMUSP00000140957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066374] [ENSMUST00000078874] [ENSMUST00000114275] [ENSMUST00000186477] [ENSMUST00000191200]
AlphaFold Q6P7F1
Predicted Effect probably benign
Transcript: ENSMUST00000066374
AA Change: A90V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550
AA Change: A90V

DomainStartEndE-ValueType
L27 27 82 4.02e-9 SMART
L27 86 139 2.49e-14 SMART
PDZ 161 234 3.57e-11 SMART
SH3 244 310 2.94e-5 SMART
low complexity region 397 406 N/A INTRINSIC
GuKc 425 618 1.21e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078874
AA Change: A90V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550
AA Change: A90V

DomainStartEndE-ValueType
L27 27 82 4.02e-9 SMART
L27 86 139 2.49e-14 SMART
PDZ 161 234 3.57e-11 SMART
SH3 244 310 2.94e-5 SMART
low complexity region 348 362 N/A INTRINSIC
low complexity region 397 406 N/A INTRINSIC
GuKc 425 618 1.21e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114275
AA Change: A109V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550
AA Change: A109V

DomainStartEndE-ValueType
L27 46 101 4.02e-9 SMART
L27 105 158 2.49e-14 SMART
PDZ 180 253 3.57e-11 SMART
SH3 263 329 2.94e-5 SMART
low complexity region 367 381 N/A INTRINSIC
low complexity region 416 425 N/A INTRINSIC
GuKc 444 637 1.21e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186477
AA Change: A90V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: A90V

DomainStartEndE-ValueType
L27 27 82 1.3e-11 SMART
L27 86 139 8.6e-17 SMART
PDZ 161 234 1.8e-13 SMART
SH3 222 297 5.1e-4 SMART
low complexity region 353 362 N/A INTRINSIC
GuKc 381 574 5.8e-53 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188494
Predicted Effect probably benign
Transcript: ENSMUST00000191200
AA Change: A90V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550
AA Change: A90V

DomainStartEndE-ValueType
L27 27 82 4.02e-9 SMART
L27 86 139 2.49e-14 SMART
PDZ 161 234 3.57e-11 SMART
SH3 244 310 2.94e-5 SMART
low complexity region 342 356 N/A INTRINSIC
low complexity region 391 400 N/A INTRINSIC
GuKc 419 612 1.21e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189743
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for mutations display sporadic photorecptor displacement. Correct protein localization at the presynaptic photoreceptor membrane. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,075,496 (GRCm39) M1332V probably benign Het
Acsbg3 A T 17: 57,188,061 (GRCm39) N190Y probably benign Het
Afg3l2 T C 18: 67,573,513 (GRCm39) K132R probably null Het
Antkmt A G 17: 26,009,631 (GRCm39) V194A probably benign Het
Arap3 T C 18: 38,117,418 (GRCm39) D886G probably damaging Het
B3gntl1 G T 11: 121,542,502 (GRCm39) probably null Het
Cdk12 T A 11: 98,109,900 (GRCm39) S640R probably benign Het
Ceacam12 C A 7: 17,803,079 (GRCm39) P162T probably benign Het
Chrna5 C A 9: 54,905,388 (GRCm39) H67N probably benign Het
Copb1 T A 7: 113,818,807 (GRCm39) D837V probably damaging Het
Dcaf5 C T 12: 80,385,606 (GRCm39) R840H probably benign Het
Ect2l T A 10: 18,039,186 (GRCm39) Q324L probably benign Het
Eef1e1 T C 13: 38,830,249 (GRCm39) N141S probably damaging Het
Eif2ak4 A C 2: 118,243,444 (GRCm39) N208T possibly damaging Het
Ext1 A G 15: 53,207,949 (GRCm39) Y271H probably damaging Het
Fbxo5 G A 10: 5,750,303 (GRCm39) R323C possibly damaging Het
Fpr-rs3 C A 17: 20,844,488 (GRCm39) A218S possibly damaging Het
Gm20499 G A 5: 114,955,082 (GRCm39) probably benign Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Gucy1b2 C A 14: 62,651,750 (GRCm39) L400F possibly damaging Het
Hgd T A 16: 37,413,733 (GRCm39) L24H probably benign Het
Hmx3 C A 7: 131,146,057 (GRCm39) S255* probably null Het
Ifrd1 A T 12: 40,253,369 (GRCm39) F448I probably damaging Het
Igfn1 T A 1: 135,894,578 (GRCm39) E1996V probably benign Het
Itpr1 G A 6: 108,329,104 (GRCm39) G173R probably damaging Het
Kbtbd8 T C 6: 95,095,515 (GRCm39) S26P probably benign Het
Kctd17 A T 15: 78,321,333 (GRCm39) probably benign Het
Matr3 T C 18: 35,717,575 (GRCm39) S258P possibly damaging Het
Mrpl20 G A 4: 155,891,378 (GRCm39) R34Q probably damaging Het
Neb A T 2: 52,135,313 (GRCm39) S3266T probably damaging Het
Nipal3 A G 4: 135,179,650 (GRCm39) probably benign Het
Npas2 A T 1: 39,326,652 (GRCm39) T46S possibly damaging Het
Nsd3 G T 8: 26,172,685 (GRCm39) E815* probably null Het
Nup98 C A 7: 101,801,568 (GRCm39) V786L probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Pcdhb3 T C 18: 37,434,520 (GRCm39) V162A probably benign Het
Pcgf2 G A 11: 97,581,117 (GRCm39) P58L probably damaging Het
Penk A G 4: 4,134,318 (GRCm39) F110L probably damaging Het
Relch T G 1: 105,615,072 (GRCm39) N246K probably damaging Het
Scfd1 A G 12: 51,478,312 (GRCm39) N508S probably benign Het
Scn2a T C 2: 65,594,827 (GRCm39) V1892A probably benign Het
Sema6a G A 18: 47,381,893 (GRCm39) R885C probably damaging Het
Sik2 T C 9: 50,807,145 (GRCm39) H755R probably benign Het
Slc36a3 A T 11: 55,026,094 (GRCm39) Y241* probably null Het
Smg5 T C 3: 88,258,925 (GRCm39) probably benign Het
Spag9 A G 11: 94,005,079 (GRCm39) T1049A probably benign Het
Tas2r103 T C 6: 133,013,908 (GRCm39) M53V probably benign Het
Tpr C T 1: 150,299,292 (GRCm39) A1090V probably damaging Het
Traf5 T A 1: 191,729,633 (GRCm39) R473W probably damaging Het
Ush2a T C 1: 188,175,707 (GRCm39) probably null Het
Vit A G 17: 78,853,855 (GRCm39) T34A probably benign Het
Other mutations in Mpp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Mpp4 APN 1 59,188,678 (GRCm39) critical splice donor site probably null
IGL01346:Mpp4 APN 1 59,164,719 (GRCm39) missense probably damaging 1.00
IGL01680:Mpp4 APN 1 59,169,226 (GRCm39) missense probably benign 0.21
IGL02123:Mpp4 APN 1 59,200,625 (GRCm39) splice site probably null
IGL02299:Mpp4 APN 1 59,197,738 (GRCm39) splice site probably benign
IGL02793:Mpp4 APN 1 59,175,993 (GRCm39) splice site probably null
IGL02875:Mpp4 APN 1 59,175,993 (GRCm39) splice site probably null
E0370:Mpp4 UTSW 1 59,178,917 (GRCm39) splice site probably benign
R0391:Mpp4 UTSW 1 59,182,988 (GRCm39) splice site probably benign
R0517:Mpp4 UTSW 1 59,163,886 (GRCm39) nonsense probably null
R0725:Mpp4 UTSW 1 59,160,581 (GRCm39) missense probably damaging 1.00
R0968:Mpp4 UTSW 1 59,169,249 (GRCm39) missense probably damaging 1.00
R1753:Mpp4 UTSW 1 59,183,969 (GRCm39) missense probably null 1.00
R1956:Mpp4 UTSW 1 59,197,811 (GRCm39) missense probably benign 0.01
R1968:Mpp4 UTSW 1 59,183,961 (GRCm39) missense probably damaging 1.00
R2062:Mpp4 UTSW 1 59,182,941 (GRCm39) missense possibly damaging 0.92
R2064:Mpp4 UTSW 1 59,182,941 (GRCm39) missense possibly damaging 0.92
R2065:Mpp4 UTSW 1 59,182,941 (GRCm39) missense possibly damaging 0.92
R2068:Mpp4 UTSW 1 59,182,941 (GRCm39) missense possibly damaging 0.92
R2088:Mpp4 UTSW 1 59,162,624 (GRCm39) missense possibly damaging 0.68
R2108:Mpp4 UTSW 1 59,182,941 (GRCm39) missense possibly damaging 0.92
R2426:Mpp4 UTSW 1 59,169,216 (GRCm39) missense probably damaging 0.99
R2897:Mpp4 UTSW 1 59,183,853 (GRCm39) missense probably benign
R2898:Mpp4 UTSW 1 59,183,853 (GRCm39) missense probably benign
R3908:Mpp4 UTSW 1 59,188,196 (GRCm39) missense probably damaging 0.99
R3938:Mpp4 UTSW 1 59,163,842 (GRCm39) missense possibly damaging 0.94
R4050:Mpp4 UTSW 1 59,185,903 (GRCm39) splice site probably null
R4396:Mpp4 UTSW 1 59,183,961 (GRCm39) missense possibly damaging 0.56
R4908:Mpp4 UTSW 1 59,164,748 (GRCm39) missense probably damaging 1.00
R5169:Mpp4 UTSW 1 59,169,256 (GRCm39) critical splice acceptor site probably null
R5185:Mpp4 UTSW 1 59,164,742 (GRCm39) missense probably benign 0.10
R5249:Mpp4 UTSW 1 59,184,017 (GRCm39) splice site probably benign
R5333:Mpp4 UTSW 1 59,196,600 (GRCm39) missense probably benign 0.03
R5563:Mpp4 UTSW 1 59,163,788 (GRCm39) critical splice donor site probably null
R5829:Mpp4 UTSW 1 59,168,101 (GRCm39) missense probably damaging 0.99
R5934:Mpp4 UTSW 1 59,160,535 (GRCm39) missense probably damaging 1.00
R6017:Mpp4 UTSW 1 59,160,518 (GRCm39) missense probably damaging 1.00
R6845:Mpp4 UTSW 1 59,183,963 (GRCm39) missense probably benign 0.05
R7013:Mpp4 UTSW 1 59,188,774 (GRCm39) missense probably damaging 1.00
R7292:Mpp4 UTSW 1 59,182,969 (GRCm39) missense possibly damaging 0.51
R7775:Mpp4 UTSW 1 59,162,672 (GRCm39) missense not run
R7778:Mpp4 UTSW 1 59,162,672 (GRCm39) missense not run
R7912:Mpp4 UTSW 1 59,160,521 (GRCm39) missense probably damaging 1.00
R8354:Mpp4 UTSW 1 59,169,224 (GRCm39) missense probably damaging 1.00
R8524:Mpp4 UTSW 1 59,183,840 (GRCm39) missense probably damaging 1.00
R8894:Mpp4 UTSW 1 59,197,743 (GRCm39) critical splice donor site probably null
R9231:Mpp4 UTSW 1 59,163,833 (GRCm39) missense probably damaging 1.00
X0013:Mpp4 UTSW 1 59,162,612 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- ACCTAAGGTCAGTTAAATGCAAAGG -3'
(R):5'- TCACTTGTTTGGCTGTCAGC -3'

Sequencing Primer
(F):5'- TAAGAACACTGACTGCTCTTCCTGAG -3'
(R):5'- GCCACATCCTCCATATCAT -3'
Posted On 2016-12-15