Incidental Mutation 'R6182:Pals2'
ID 487021
Institutional Source Beutler Lab
Gene Symbol Pals2
Ensembl Gene ENSMUSG00000038388
Gene Name protein associated with LIN7 2, MAGUK family member
Synonyms P55t, Pals2, Mpp6
MMRRC Submission 044324-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6182 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 50087221-50175919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50175206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 506 (I506V)
Ref Sequence ENSEMBL: ENSMUSP00000144737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036225] [ENSMUST00000036236] [ENSMUST00000101405] [ENSMUST00000165099] [ENSMUST00000166318] [ENSMUST00000204545]
AlphaFold Q9JLB0
Predicted Effect probably benign
Transcript: ENSMUST00000036225
AA Change: I520V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038772
Gene: ENSMUSG00000038388
AA Change: I520V

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 231 296 7.52e-12 SMART
GuKc 350 541 8.92e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036236
AA Change: I506V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039314
Gene: ENSMUSG00000038388
AA Change: I506V

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 217 282 7.52e-12 SMART
GuKc 336 527 8.92e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101405
SMART Domains Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 399 2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165099
SMART Domains Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 424 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166318
AA Change: I520V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125880
Gene: ENSMUSG00000038388
AA Change: I520V

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 231 296 7.52e-12 SMART
GuKc 350 541 8.92e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167319
Predicted Effect probably benign
Transcript: ENSMUST00000204545
AA Change: I506V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144737
Gene: ENSMUSG00000038388
AA Change: I506V

DomainStartEndE-ValueType
L27 1 55 1.08e-9 SMART
L27 56 110 7.05e-14 SMART
PDZ 138 208 1.45e-11 SMART
SH3 217 282 7.52e-12 SMART
GuKc 336 527 8.92e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204417
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,074,489 (GRCm39) S884P probably benign Het
Akap13 C A 7: 75,236,028 (GRCm39) A201E probably benign Het
Ces1f T G 8: 93,983,124 (GRCm39) E540A probably benign Het
Chid1 T A 7: 141,108,415 (GRCm39) M137L probably benign Het
Chsy3 A G 18: 59,312,414 (GRCm39) T296A probably benign Het
Clec4f A G 6: 83,622,284 (GRCm39) V519A probably benign Het
Clk4 T A 11: 51,159,009 (GRCm39) F41I possibly damaging Het
Cntnap5c A G 17: 58,183,390 (GRCm39) D32G probably benign Het
Ctsl T C 13: 64,515,786 (GRCm39) Y95C probably damaging Het
Cyp2c54 T C 19: 40,036,005 (GRCm39) M302V probably benign Het
Cyp2c65 C G 19: 39,049,606 (GRCm39) L45V probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Daam1 C T 12: 72,006,661 (GRCm39) Q693* probably null Het
Dgcr8 A T 16: 18,098,172 (GRCm39) D406E probably benign Het
Dock2 G T 11: 34,179,476 (GRCm39) P1760Q probably damaging Het
Epb41l2 G A 10: 25,383,715 (GRCm39) R940H probably damaging Het
Erc2 A C 14: 28,039,210 (GRCm39) D951A probably damaging Het
Fbxw7 T C 3: 84,723,078 (GRCm39) probably null Het
Frem2 T A 3: 53,555,390 (GRCm39) I1716F probably damaging Het
Fus A G 7: 127,576,465 (GRCm39) D295G probably damaging Het
Gm5093 A G 17: 46,750,568 (GRCm39) I153T probably benign Het
Gnptab T C 10: 88,265,342 (GRCm39) V318A possibly damaging Het
Gpc2 T C 5: 138,276,676 (GRCm39) D150G probably benign Het
Gsc2 A G 16: 17,731,483 (GRCm39) *215R probably null Het
Hectd3 T C 4: 116,857,476 (GRCm39) S552P probably damaging Het
Katnal1 C A 5: 148,841,407 (GRCm39) K152N possibly damaging Het
Kcnh1 A T 1: 191,873,361 (GRCm39) T16S probably damaging Het
Lrrc71 T C 3: 87,653,101 (GRCm39) D105G probably benign Het
Mon2 T C 10: 122,874,564 (GRCm39) probably null Het
Mroh9 G A 1: 162,893,612 (GRCm39) Q188* probably null Het
Mtmr14 A G 6: 113,246,469 (GRCm39) S81G possibly damaging Het
Nrap T A 19: 56,350,130 (GRCm39) M628L probably benign Het
Odad3 A G 9: 21,901,698 (GRCm39) F553S probably damaging Het
Or1o1 T A 17: 37,716,883 (GRCm39) I148K possibly damaging Het
Or5k1 A G 16: 58,617,655 (GRCm39) Y185H probably damaging Het
Pate4 A T 9: 35,519,586 (GRCm39) S35T possibly damaging Het
Pkd1l1 T C 11: 8,815,555 (GRCm39) E1452G probably benign Het
Pld5 T C 1: 175,872,420 (GRCm39) D239G probably benign Het
Ppef2 C T 5: 92,374,925 (GRCm39) V728M probably damaging Het
Rasip1 TGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGC 7: 45,277,879 (GRCm39) probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina3c C A 12: 104,115,690 (GRCm39) V285L probably benign Het
Serpinb9f T C 13: 33,518,405 (GRCm39) S302P probably damaging Het
Sis C T 3: 72,811,626 (GRCm39) V1642I probably benign Het
Slc12a4 G A 8: 106,674,531 (GRCm39) L601F probably damaging Het
Slc39a6 G T 18: 24,734,013 (GRCm39) N225K probably benign Het
Snrnp70 G A 7: 45,026,497 (GRCm39) R291* probably null Het
Spin1 C T 13: 51,298,374 (GRCm39) T131I probably benign Het
St18 T G 1: 6,914,342 (GRCm39) probably null Het
Stox1 A G 10: 62,500,721 (GRCm39) L613P probably damaging Het
Tgm3 T G 2: 129,867,221 (GRCm39) Y155* probably null Het
Tmem67 T C 4: 12,051,402 (GRCm39) I809V probably benign Het
Tnc T A 4: 63,927,033 (GRCm39) D831V probably damaging Het
Ttll13 A T 7: 79,909,981 (GRCm39) E762D probably benign Het
Unc5b A T 10: 60,601,015 (GRCm39) V937E probably damaging Het
Vmn1r34 A G 6: 66,614,312 (GRCm39) I142T probably damaging Het
Vmn2r104 A G 17: 20,250,507 (GRCm39) M588T probably benign Het
Vmn2r77 T C 7: 86,460,957 (GRCm39) V761A probably damaging Het
Wdr48 G T 9: 119,753,832 (GRCm39) G665W probably damaging Het
Xpot T A 10: 121,442,163 (GRCm39) R550S probably damaging Het
Ydjc A G 16: 16,964,943 (GRCm39) T33A probably benign Het
Zfc3h1 A G 10: 115,226,764 (GRCm39) T274A probably benign Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp788 T A 7: 41,299,940 (GRCm39) C859S probably damaging Het
Zscan4c T C 7: 10,740,709 (GRCm39) M76T probably benign Het
Other mutations in Pals2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Pals2 APN 6 50,173,569 (GRCm39) missense probably benign 0.26
IGL00944:Pals2 APN 6 50,140,436 (GRCm39) missense possibly damaging 0.96
IGL01576:Pals2 APN 6 50,140,472 (GRCm39) missense probably benign 0.02
IGL01639:Pals2 APN 6 50,155,460 (GRCm39) missense probably damaging 0.99
IGL02541:Pals2 APN 6 50,160,707 (GRCm39) missense probably benign 0.40
IGL02668:Pals2 APN 6 50,171,509 (GRCm39) missense probably damaging 1.00
R1033:Pals2 UTSW 6 50,160,716 (GRCm39) missense probably damaging 1.00
R1066:Pals2 UTSW 6 50,122,847 (GRCm39) missense possibly damaging 0.94
R1542:Pals2 UTSW 6 50,175,306 (GRCm39) missense probably damaging 1.00
R1799:Pals2 UTSW 6 50,173,525 (GRCm39) missense probably damaging 0.97
R1817:Pals2 UTSW 6 50,140,411 (GRCm39) missense probably benign 0.06
R1818:Pals2 UTSW 6 50,140,411 (GRCm39) missense probably benign 0.06
R4410:Pals2 UTSW 6 50,175,248 (GRCm39) nonsense probably null
R5162:Pals2 UTSW 6 50,155,495 (GRCm39) missense probably damaging 1.00
R5591:Pals2 UTSW 6 50,157,159 (GRCm39) missense probably benign 0.11
R6500:Pals2 UTSW 6 50,175,146 (GRCm39) missense possibly damaging 0.67
R6762:Pals2 UTSW 6 50,157,418 (GRCm39) splice site probably null
R6888:Pals2 UTSW 6 50,157,257 (GRCm39) critical splice donor site probably null
R6963:Pals2 UTSW 6 50,140,635 (GRCm39) splice site probably null
R7002:Pals2 UTSW 6 50,139,642 (GRCm39) missense probably benign
R7629:Pals2 UTSW 6 50,173,603 (GRCm39) missense probably benign 0.07
R8159:Pals2 UTSW 6 50,171,527 (GRCm39) missense probably benign 0.00
R9190:Pals2 UTSW 6 50,157,219 (GRCm39) missense probably damaging 1.00
R9266:Pals2 UTSW 6 50,140,463 (GRCm39) missense probably benign 0.07
R9604:Pals2 UTSW 6 50,173,597 (GRCm39) missense probably benign 0.11
X0027:Pals2 UTSW 6 50,140,511 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- GAACTCGTATCTGAATTCCAACAG -3'
(R):5'- AAATGCCTTGATGCGCAGG -3'

Sequencing Primer
(F):5'- AACAGATATCAACGCCCTTATTTC -3'
(R):5'- TCTGCATGTGCTCGCCCAG -3'
Posted On 2017-10-10