Incidental Mutation 'IGL02123:Mpp4'
ID 280746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpp4
Ensembl Gene ENSMUSG00000079550
Gene Name membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
Synonyms DLG6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02123
Quality Score
Status
Chromosome 1
Chromosomal Location 59160094-59202548 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 59200625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027178] [ENSMUST00000066374] [ENSMUST00000078874] [ENSMUST00000114275] [ENSMUST00000163058] [ENSMUST00000186477] [ENSMUST00000191200]
AlphaFold Q6P7F1
Predicted Effect probably benign
Transcript: ENSMUST00000027178
SMART Domains Protein: ENSMUSP00000027178
Gene: ENSMUSG00000026024

DomainStartEndE-ValueType
Pfam:RCC1_2 93 122 1.1e-9 PFAM
Pfam:RCC1 109 165 9.5e-11 PFAM
Pfam:RCC1 170 216 6.6e-11 PFAM
low complexity region 268 282 N/A INTRINSIC
low complexity region 465 483 N/A INTRINSIC
Pfam:RCC1 521 568 5.4e-13 PFAM
Pfam:RCC1_2 555 584 8.3e-12 PFAM
Pfam:RCC1 571 619 3.4e-11 PFAM
Pfam:RhoGEF 688 877 6.5e-10 PFAM
PH 895 1001 2.17e0 SMART
MORN 1041 1062 1.34e-5 SMART
MORN 1064 1085 1.95e-1 SMART
MORN 1092 1113 6.68e-6 SMART
MORN 1115 1136 9.39e0 SMART
MORN 1143 1164 1.49e1 SMART
MORN 1167 1188 1.13e1 SMART
MORN 1190 1211 2.28e0 SMART
MORN 1213 1235 5.95e1 SMART
low complexity region 1470 1483 N/A INTRINSIC
Pfam:VPS9 1546 1650 8.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066374
SMART Domains Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550

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
SMART Domains Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550

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 null
Transcript: ENSMUST00000114275
SMART Domains Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550

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: ENSMUST00000163058
SMART Domains Protein: ENSMUSP00000125753
Gene: ENSMUSG00000026024

DomainStartEndE-ValueType
Pfam:RCC1_2 93 122 9.9e-10 PFAM
Pfam:RCC1 109 165 9.5e-12 PFAM
Pfam:RCC1 170 216 4.9e-12 PFAM
low complexity region 268 282 N/A INTRINSIC
low complexity region 465 483 N/A INTRINSIC
Pfam:RCC1 521 568 4.6e-14 PFAM
Pfam:RCC1_2 555 584 1.2e-11 PFAM
Pfam:RCC1 571 619 8.6e-11 PFAM
Pfam:RhoGEF 688 877 2.6e-10 PFAM
PH 895 1001 2.17e0 SMART
MORN 1041 1062 1.34e-5 SMART
MORN 1064 1085 1.95e-1 SMART
MORN 1092 1113 6.68e-6 SMART
MORN 1115 1136 9.39e0 SMART
MORN 1143 1164 1.49e1 SMART
MORN 1167 1188 1.13e1 SMART
MORN 1190 1211 2.28e0 SMART
MORN 1213 1235 5.95e1 SMART
low complexity region 1470 1483 N/A INTRINSIC
Pfam:VPS9 1546 1650 1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186477
SMART Domains Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550

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: ENSMUST00000188494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186790
Predicted Effect probably benign
Transcript: ENSMUST00000191200
SMART Domains Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550

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
Coding Region Coverage
Validation Efficiency
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
Acp7 T C 7: 28,328,914 (GRCm39) T31A probably benign Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ampd3 T C 7: 110,401,766 (GRCm39) V429A possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cldn11 C T 3: 31,204,336 (GRCm39) T13M probably benign Het
Cngb3 C A 4: 19,367,801 (GRCm39) Q237K probably damaging Het
Col12a1 A G 9: 79,569,740 (GRCm39) probably null Het
Copa T A 1: 171,939,695 (GRCm39) L621H probably damaging Het
Dbn1 T C 13: 55,624,553 (GRCm39) D332G possibly damaging Het
Drc1 T C 5: 30,504,448 (GRCm39) S197P probably benign Het
E2f2 A G 4: 135,900,159 (GRCm39) N23S probably benign Het
Epb41l2 T A 10: 25,336,742 (GRCm39) L246H probably damaging Het
Fam13b G A 18: 34,578,671 (GRCm39) probably benign Het
Fam184b A G 5: 45,796,493 (GRCm39) M30T possibly damaging Het
Fn3krp G A 11: 121,320,270 (GRCm39) R205H probably benign Het
Fndc11 A G 2: 180,863,443 (GRCm39) I83V probably benign Het
Garin2 T C 12: 78,780,981 (GRCm39) probably null Het
Gm3629 C T 14: 17,834,541 (GRCm39) R150H probably benign Het
Hs6st1 T A 1: 36,142,952 (GRCm39) F296I possibly damaging Het
Igsf10 T A 3: 59,226,081 (GRCm39) I2531F probably damaging Het
Klhl40 T C 9: 121,608,989 (GRCm39) F385L probably benign Het
Krt87 A T 15: 101,385,466 (GRCm39) M302K possibly damaging Het
Lrrc43 A T 5: 123,632,342 (GRCm39) I162F probably damaging Het
Map3k21 A G 8: 126,652,849 (GRCm39) E325G probably damaging Het
Mpo A T 11: 87,685,621 (GRCm39) N33I probably benign Het
Muc5b C T 7: 141,417,494 (GRCm39) T3480I possibly damaging Het
Myo6 T C 9: 80,171,554 (GRCm39) probably benign Het
Nostrin C T 2: 68,986,453 (GRCm39) probably benign Het
Nphp1 T C 2: 127,595,969 (GRCm39) M498V probably benign Het
Nr4a2 A T 2: 57,001,667 (GRCm39) L199Q possibly damaging Het
Pcdhb6 A T 18: 37,468,873 (GRCm39) N598I probably damaging Het
Pex19 T A 1: 171,961,853 (GRCm39) M207K probably damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Plekha2 T C 8: 25,532,745 (GRCm39) K409E probably damaging Het
Plxna2 T C 1: 194,476,691 (GRCm39) L1169P probably damaging Het
Pmpcb A G 5: 21,948,373 (GRCm39) probably benign Het
Ptrh1 T C 2: 32,666,826 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,288,265 (GRCm39) E439G probably damaging Het
Ric1 C T 19: 29,572,200 (GRCm39) A665V probably benign Het
Stx18 T A 5: 38,285,447 (GRCm39) V219D probably damaging Het
Taf7 A T 18: 37,775,533 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,415,988 (GRCm39) I895T possibly damaging Het
Tbc1d8 A G 1: 39,419,317 (GRCm39) S766P probably damaging Het
Tekt3 C A 11: 62,974,766 (GRCm39) H362N probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tmem94 T C 11: 115,678,364 (GRCm39) S196P possibly damaging Het
Vmn2r14 T C 5: 109,367,933 (GRCm39) Y353C probably damaging Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vmn2r90 T G 17: 17,953,744 (GRCm39) M636R probably benign Het
Vmn2r98 T A 17: 19,300,941 (GRCm39) C648S probably damaging Het
Zfpm2 G A 15: 40,965,591 (GRCm39) C560Y probably damaging 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
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
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
Posted On 2015-04-16