Incidental Mutation 'R2426:Mpp4'
ID 250181
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 040388-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2426 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 59160094-59202548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59169216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 383 (S383P)
Ref Sequence ENSEMBL: ENSMUSP00000140957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066374] [ENSMUST00000078874] [ENSMUST00000114275] [ENSMUST00000186477] [ENSMUST00000191200]
AlphaFold Q6P7F1
Predicted Effect probably damaging
Transcript: ENSMUST00000066374
AA Change: S389P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550
AA Change: S389P

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 damaging
Transcript: ENSMUST00000078874
AA Change: S389P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550
AA Change: S389P

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 damaging
Transcript: ENSMUST00000114275
AA Change: S408P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550
AA Change: S408P

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 damaging
Transcript: ENSMUST00000186477
AA Change: S345P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: S345P

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: ENSMUST00000187825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188494
Predicted Effect probably damaging
Transcript: ENSMUST00000191200
AA Change: S383P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550
AA Change: S383P

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G T 7: 119,882,446 (GRCm39) V1203L probably benign Het
Adamtsl1 G A 4: 86,075,025 (GRCm39) V131I probably benign Het
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Agbl1 T C 7: 76,071,650 (GRCm39) V324A probably damaging Het
Ahnak A T 19: 8,980,215 (GRCm39) I500F possibly damaging Het
Aldh1l1 A G 6: 90,575,266 (GRCm39) D851G probably damaging Het
Amot T C X: 144,259,287 (GRCm39) K460E probably damaging Het
Arhgef3 G T 14: 27,106,138 (GRCm39) E161* probably null Het
Atg9b A T 5: 24,591,992 (GRCm39) I669N probably damaging Het
Ccdc83 A G 7: 89,877,639 (GRCm39) Y268H probably damaging Het
Cep170 A G 1: 176,602,201 (GRCm39) S302P probably benign Het
Cyp4a31 T A 4: 115,428,213 (GRCm39) M303K probably damaging Het
Cyp4v3 T A 8: 45,770,813 (GRCm39) Y231F probably benign Het
Defa39 T G 8: 22,192,653 (GRCm39) K114N possibly damaging Het
Dock3 A T 9: 106,791,740 (GRCm39) L1411Q possibly damaging Het
Dsg1a T A 18: 20,469,861 (GRCm39) I629N probably damaging Het
Dst A T 1: 34,231,893 (GRCm39) H2837L probably benign Het
Fam114a2 G A 11: 57,383,906 (GRCm39) P343L probably benign Het
Fbrs A G 7: 127,086,511 (GRCm39) probably null Het
Fbxl13 A C 5: 21,727,135 (GRCm39) D620E probably damaging Het
Frmd4a T A 2: 4,534,673 (GRCm39) S164T probably damaging Het
Gdi2 T G 13: 3,612,034 (GRCm39) S330A probably benign Het
Gm5878 A T 6: 85,095,613 (GRCm39) M70K probably benign Het
H2-Q6 G T 17: 35,643,913 (GRCm39) A21S probably benign Het
Hfm1 A T 5: 106,995,519 (GRCm39) probably null Het
Hnmt C T 2: 23,909,167 (GRCm39) C82Y probably benign Het
Il1rl1 C A 1: 40,485,779 (GRCm39) A310D probably damaging Het
Ints1 A T 5: 139,757,569 (GRCm39) probably null Het
Kcne4 C A 1: 78,795,688 (GRCm39) A112E possibly damaging Het
Krt32 T C 11: 99,977,192 (GRCm39) K236R possibly damaging Het
Maml2 T C 9: 13,617,794 (GRCm39) L380P probably damaging Het
Meis1 A T 11: 18,938,356 (GRCm39) D218E possibly damaging Het
Mon1b G A 8: 114,365,752 (GRCm39) G360D probably damaging Het
Neb A G 2: 52,059,065 (GRCm39) probably null Het
Nlgn2 A T 11: 69,717,912 (GRCm39) I431N probably damaging Het
Nr2e1 A G 10: 42,439,481 (GRCm39) L134P probably damaging Het
Opcml G A 9: 28,814,663 (GRCm39) probably null Het
Or2t29 A T 11: 58,433,920 (GRCm39) Y127* probably null Het
Or6c207 T C 10: 129,105,135 (GRCm39) Q19R probably benign Het
Or7c19 T C 8: 85,957,693 (GRCm39) S190P probably damaging Het
Pate2 A T 9: 35,581,776 (GRCm39) probably null Het
Pgr G A 9: 8,900,718 (GRCm39) V84M probably damaging Het
Pigu A T 2: 155,141,002 (GRCm39) V296D probably damaging Het
Plcb2 G A 2: 118,546,130 (GRCm39) T555M probably damaging Het
Pld5 T G 1: 175,791,542 (GRCm39) D426A probably benign Het
Prdm2 G T 4: 142,838,320 (GRCm39) C1679* probably null Het
Psme2b A T 11: 48,836,890 (GRCm39) V19D probably benign Het
Ptpn9 A T 9: 56,934,712 (GRCm39) N159Y possibly damaging Het
Sanbr T A 11: 23,526,801 (GRCm39) R190W probably damaging Het
Sdc3 A T 4: 130,546,114 (GRCm39) T64S unknown Het
Serping1 T G 2: 84,600,563 (GRCm39) S260R probably damaging Het
Slc20a1 T C 2: 129,050,150 (GRCm39) F436S probably benign Het
Sntb1 A T 15: 55,769,575 (GRCm39) I138N probably damaging Het
Sorcs3 A T 19: 48,711,364 (GRCm39) Y643F probably damaging Het
Spink1 G T 18: 43,868,287 (GRCm39) S23* probably null Het
Stag1 T C 9: 100,727,169 (GRCm39) probably null Het
Tnfaip8l1 G A 17: 56,479,030 (GRCm39) V107I probably benign Het
Tnik A G 3: 28,700,830 (GRCm39) S907G probably damaging Het
Ttf1 T A 2: 28,957,197 (GRCm39) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp54 G A 14: 20,615,008 (GRCm39) A811V probably benign Het
Xirp2 A G 2: 67,344,815 (GRCm39) N2352S probably benign Het
Zan T C 5: 137,387,254 (GRCm39) Y4933C unknown Het
Zbtb8a A G 4: 129,254,012 (GRCm39) S161P probably benign Het
Zkscan5 A T 5: 145,157,750 (GRCm39) I751L probably benign Het
Zscan4d A G 7: 10,899,022 (GRCm39) F85S probably damaging Het
Zzef1 A G 11: 72,806,091 (GRCm39) M2647V 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
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'- AAGAGCCCCACTTTATTGTTACTAC -3'
(R):5'- GGGACATCATTAGCTGCTGC -3'

Sequencing Primer
(F):5'- AAAACATCAAATCTAGGATGACTCG -3'
(R):5'- AGACCAGGTCTCACTATATGTGCG -3'
Posted On 2014-11-12