Incidental Mutation 'R0517:Mpp4'
ID 48206
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 038710-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0517 (G1)
Quality Score 171
Status Validated
Chromosome 1
Chromosomal Location 59160094-59202548 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 59163886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 489 (Y489*)
Ref Sequence ENSEMBL: ENSMUSP00000140957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066374] [ENSMUST00000078874] [ENSMUST00000087475] [ENSMUST00000094917] [ENSMUST00000114275] [ENSMUST00000186477] [ENSMUST00000191200] [ENSMUST00000186395] [ENSMUST00000190014] [ENSMUST00000186794]
AlphaFold Q6P7F1
Predicted Effect probably null
Transcript: ENSMUST00000066374
AA Change: Y495*
SMART Domains Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550
AA Change: Y495*

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 null
Transcript: ENSMUST00000078874
AA Change: Y495*
SMART Domains Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550
AA Change: Y495*

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: ENSMUST00000087475
SMART Domains Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:TMEM237 134 382 4.4e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094917
SMART Domains Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
Pfam:TMEM237 148 391 3.4e-101 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114275
AA Change: Y514*
SMART Domains Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550
AA Change: Y514*

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 noncoding transcript
Transcript: ENSMUST00000180570
Predicted Effect probably null
Transcript: ENSMUST00000186477
AA Change: Y451*
SMART Domains Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: Y451*

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 probably null
Transcript: ENSMUST00000191200
AA Change: Y489*
SMART Domains Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550
AA Change: Y489*

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: ENSMUST00000189096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188494
Predicted Effect probably benign
Transcript: ENSMUST00000186395
Predicted Effect probably benign
Transcript: ENSMUST00000190014
SMART Domains Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
Pfam:TMEM237 129 230 9e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186794
SMART Domains Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
Pfam:TMEM237 158 406 5.2e-95 PFAM
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.1%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,292,024 (GRCm39) probably benign Het
Acer1 T C 17: 57,262,569 (GRCm39) T194A probably benign Het
Adamts1 C A 16: 85,597,241 (GRCm39) D10Y possibly damaging Het
Adamts7 T C 9: 90,081,911 (GRCm39) V1612A probably benign Het
Adcyap1r1 T A 6: 55,468,282 (GRCm39) S373T probably damaging Het
Asic5 A T 3: 81,916,833 (GRCm39) I266F probably benign Het
Cacna1d A T 14: 29,901,232 (GRCm39) I274K probably damaging Het
Camsap2 G T 1: 136,221,126 (GRCm39) Q238K possibly damaging Het
Ceacam15 A C 7: 16,407,445 (GRCm39) L24* probably null Het
Cerk G A 15: 86,040,849 (GRCm39) T170I probably damaging Het
Cyp27b1 T C 10: 126,885,985 (GRCm39) probably null Het
Cyp2c65 T C 19: 39,070,792 (GRCm39) probably benign Het
Dennd5a A G 7: 109,533,968 (GRCm39) S75P probably damaging Het
Dhx9 C T 1: 153,354,662 (GRCm39) A146T possibly damaging Het
Dpysl5 A G 5: 30,935,410 (GRCm39) D171G probably damaging Het
Dsg3 A G 18: 20,662,082 (GRCm39) N449S probably benign Het
Eps8l3 T C 3: 107,790,776 (GRCm39) S189P probably benign Het
Exph5 A G 9: 53,284,062 (GRCm39) E381G probably benign Het
Fbxo46 A G 7: 18,870,799 (GRCm39) M473V possibly damaging Het
Fgf14 G A 14: 124,221,196 (GRCm39) P203S probably damaging Het
Foxf2 C T 13: 31,810,226 (GRCm39) A55V unknown Het
Galnt5 T G 2: 57,925,385 (GRCm39) probably benign Het
Glis2 T C 16: 4,429,416 (GRCm39) L181P probably damaging Het
Gm10000 T G 12: 104,442,667 (GRCm39) probably benign Het
Helz2 A G 2: 180,869,563 (GRCm39) S2959P probably benign Het
Hyal6 A G 6: 24,734,852 (GRCm39) N262D probably benign Het
Lgr4 T C 2: 109,841,665 (GRCm39) L526P probably damaging Het
Mapk1 A T 16: 16,833,910 (GRCm39) I88F probably benign Het
Mpg A T 11: 32,181,853 (GRCm39) H287L probably benign Het
Mpzl1 T C 1: 165,429,359 (GRCm39) E224G probably damaging Het
Myh10 A G 11: 68,702,425 (GRCm39) probably null Het
Odad2 A C 18: 7,223,621 (GRCm39) L474R probably damaging Het
Or13p8 T A 4: 118,583,831 (GRCm39) I129K probably damaging Het
Or5m9 T C 2: 85,877,548 (GRCm39) S241P probably damaging Het
Paip1 T A 13: 119,584,326 (GRCm39) F196I probably damaging Het
Pde3a A T 6: 141,444,383 (GRCm39) K1064* probably null Het
Pira2 A T 7: 3,847,196 (GRCm39) probably benign Het
Pros1 A G 16: 62,723,881 (GRCm39) S210G probably benign Het
Rbm15 A T 3: 107,238,685 (GRCm39) L571Q probably damaging Het
Scn1a T A 2: 66,132,751 (GRCm39) T1194S possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Serpina1e G A 12: 103,915,486 (GRCm39) T240I probably benign Het
Setx T G 2: 29,047,145 (GRCm39) S1874R probably benign Het
Sgsm2 G T 11: 74,758,477 (GRCm39) T256K possibly damaging Het
Slc44a1 T C 4: 53,542,366 (GRCm39) V300A probably damaging Het
Spata46 A G 1: 170,139,178 (GRCm39) Y59C probably damaging Het
Supt3 T C 17: 45,430,158 (GRCm39) F404L probably benign Het
Tars1 T A 15: 11,394,452 (GRCm39) K62* probably null Het
Tas2r139 A C 6: 42,118,425 (GRCm39) T186P probably damaging Het
Tasor2 T A 13: 3,616,964 (GRCm39) T2367S possibly damaging Het
Tc2n C T 12: 101,615,454 (GRCm39) S457N probably damaging Het
Tox4 A T 14: 52,530,085 (GRCm39) S582C probably benign Het
Trappc12 T C 12: 28,747,133 (GRCm39) probably benign Het
Ubqlnl G T 7: 103,797,845 (GRCm39) Q551K probably damaging Het
Ubr4 A G 4: 139,119,435 (GRCm39) T205A probably benign Het
Urb1 G A 16: 90,574,310 (GRCm39) Q924* probably null Het
Vmn1r49 A G 6: 90,049,720 (GRCm39) L94P probably damaging Het
Vmn2r120 T C 17: 57,815,949 (GRCm39) Y802C probably damaging Het
Xrcc1 C T 7: 24,269,744 (GRCm39) 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
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
R5779:Mpp4 UTSW 1 59,190,825 (GRCm39) missense probably benign 0.09
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'- AGAGCATTCAGCAATATCTTCTGCCAC -3'
(R):5'- TAGTCTGATGGAGGCCATCTCTCAGC -3'

Sequencing Primer
(F):5'- TTCTGCCACAAGAAGTTACCTGG -3'
(R):5'- TCTCTCAGCTGAAAGTCCCA -3'
Posted On 2013-06-12