Incidental Mutation 'R7292:Mpp4'
ID 566459
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 045397-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7292 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 59160094-59202548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59182969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 313 (E313K)
Ref Sequence ENSEMBL: ENSMUSP00000140957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066374] [ENSMUST00000078874] [ENSMUST00000114275] [ENSMUST00000186477] [ENSMUST00000191200]
AlphaFold Q6P7F1
Predicted Effect possibly damaging
Transcript: ENSMUST00000066374
AA Change: E313K

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550
AA Change: E313K

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: E313K

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550
AA Change: E313K

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 possibly damaging
Transcript: ENSMUST00000114275
AA Change: E332K

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550
AA Change: E332K

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 possibly damaging
Transcript: ENSMUST00000186477
AA Change: E300K

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: E300K

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 possibly damaging
Transcript: ENSMUST00000191200
AA Change: E313K

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550
AA Change: E313K

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,215,861 (GRCm39) C322* probably null Het
4930553M12Rik G A 4: 88,786,568 (GRCm39) R17C unknown Het
Abcc8 G A 7: 45,784,950 (GRCm39) T726I probably benign Het
Adamts18 T C 8: 114,436,277 (GRCm39) T981A probably benign Het
Adgrb3 A G 1: 25,570,957 (GRCm39) C507R probably damaging Het
Bloc1s6 T A 2: 122,584,615 (GRCm39) D63E probably damaging Het
Cdc25b C T 2: 131,033,093 (GRCm39) R135W probably damaging Het
Cdca2 G T 14: 67,915,326 (GRCm39) Y644* probably null Het
Ceacam10 G T 7: 24,477,775 (GRCm39) G97C probably damaging Het
Cenpf G A 1: 189,382,891 (GRCm39) L2668F probably damaging Het
Cog4 A G 8: 111,608,460 (GRCm39) D774G probably damaging Het
Col11a2 G A 17: 34,270,482 (GRCm39) G511E unknown Het
Col19a1 T A 1: 24,569,089 (GRCm39) I220F unknown Het
Cubn G T 2: 13,429,550 (GRCm39) T1317K probably damaging Het
Dnaaf5 T C 5: 139,136,072 (GRCm39) L24P unknown Het
Eif4a3l2 G A 6: 116,528,438 (GRCm39) R105Q probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Foxn4 C A 5: 114,396,716 (GRCm39) E256* probably null Het
Gm5930 A G 14: 44,574,014 (GRCm39) S108P probably damaging Het
Gnl3 A G 14: 30,735,189 (GRCm39) S468P probably benign Het
Gzmb A T 14: 56,499,576 (GRCm39) S11T probably benign Het
Hmcn1 T C 1: 150,608,880 (GRCm39) probably null Het
Ifi206 A G 1: 173,301,428 (GRCm39) L750P unknown Het
Ifi213 T A 1: 173,422,691 (GRCm39) E58V probably damaging Het
Igkv4-78 A T 6: 69,036,752 (GRCm39) Y94N probably damaging Het
Igsf9 G T 1: 172,319,324 (GRCm39) probably null Het
Itpr2 G T 6: 146,060,447 (GRCm39) L2490M possibly damaging Het
Kdm2b A G 5: 123,018,854 (GRCm39) F862S probably damaging Het
Kif19b A G 5: 140,457,425 (GRCm39) D398G probably benign Het
Meis1 A G 11: 18,961,351 (GRCm39) I174T probably damaging Het
Micu3 A G 8: 40,835,166 (GRCm39) Q507R probably benign Het
Nfatc4 G A 14: 56,062,512 (GRCm39) E7K probably damaging Het
Or7g16 A T 9: 18,727,486 (GRCm39) Y35N probably damaging Het
Or9s18 T A 13: 65,300,656 (GRCm39) V206D possibly damaging Het
Osbpl5 G A 7: 143,255,015 (GRCm39) P470S probably damaging Het
Pak6 A G 2: 118,524,072 (GRCm39) D409G possibly damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,361,986 (GRCm39) M553K probably benign Het
Ppp2r3d T C 9: 101,089,871 (GRCm39) N151D probably damaging Het
Prdm12 T C 2: 31,533,862 (GRCm39) W160R probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prl2a1 A G 13: 27,991,353 (GRCm39) probably null Het
Prob1 G A 18: 35,787,603 (GRCm39) P217L possibly damaging Het
Ramp1 A C 1: 91,124,499 (GRCm39) H20P probably benign Het
Rbm47 T A 5: 66,184,093 (GRCm39) E170V possibly damaging Het
Relch G T 1: 105,649,141 (GRCm39) probably null Het
Rpn1 C T 6: 88,067,066 (GRCm39) P142L probably damaging Het
Rsu1 C T 2: 13,174,827 (GRCm39) R238H probably damaging Het
Sh3rf3 C T 10: 58,907,795 (GRCm39) P441L probably damaging Het
Slc1a6 A G 10: 78,650,438 (GRCm39) S559G possibly damaging Het
Slc35f5 C A 1: 125,500,222 (GRCm39) S245R probably damaging Het
Spcs3 T C 8: 54,979,554 (GRCm39) N76D probably benign Het
Spmip5 A T 19: 58,777,539 (GRCm39) Y90* probably null Het
Svep1 T C 4: 58,111,395 (GRCm39) T1075A possibly damaging Het
Sympk A T 7: 18,769,955 (GRCm39) I211F probably benign Het
Tk1 C T 11: 117,716,603 (GRCm39) M1I probably null Het
Tln2 A G 9: 67,253,743 (GRCm39) V776A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tnk2 T C 16: 32,499,618 (GRCm39) V977A probably benign Het
Toporsl A T 4: 52,611,630 (GRCm39) S508C probably benign Het
Trank1 A C 9: 111,206,938 (GRCm39) R1690S probably benign Het
Trio T A 15: 27,828,437 (GRCm39) Q1409L possibly damaging Het
Vit T C 17: 78,912,927 (GRCm39) F287L probably benign Het
Vmn2r109 G C 17: 20,761,700 (GRCm39) D552E probably benign Het
Zw10 T C 9: 48,972,491 (GRCm39) V186A 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
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
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'- CCCACGGACATGTTTAACTTC -3'
(R):5'- TGTCCTGGAAATACTGGAGTG -3'

Sequencing Primer
(F):5'- CCTCCATCAGATTGGCATGATTGAG -3'
(R):5'- GGACCCAGGACAGTCACAG -3'
Posted On 2019-06-26