Incidental Mutation 'IGL01647:Pakap'
ID102719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pakap
Ensembl Gene ENSMUSG00000089945
Gene Nameparalemmin A kinase anchor protein
SynonymsPalm2Akap2, AF064781, Palm2-Akap2, Gm20459
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01647
Quality Score
Status
Chromosome4
Chromosomal Location57568179-57896982 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57688477 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 107 (I107F)
Ref Sequence ENSEMBL: ENSMUSP00000099969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098066] [ENSMUST00000102904] [ENSMUST00000102905] [ENSMUST00000126465] [ENSMUST00000142556]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098066
AA Change: I107F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945
AA Change: I107F

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102904
AA Change: I107F

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099968
Gene: ENSMUSG00000090053
AA Change: I107F

DomainStartEndE-ValueType
Pfam:Paralemmin 66 376 8e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102905
AA Change: I107F

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099969
Gene: ENSMUSG00000090053
AA Change: I107F

DomainStartEndE-ValueType
Pfam:Paralemmin 67 376 5.8e-109 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000126465
AA Change: I107F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945
AA Change: I107F

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131201
Predicted Effect possibly damaging
Transcript: ENSMUST00000142556
AA Change: I107F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129817
Gene: ENSMUSG00000090053
AA Change: I107F

DomainStartEndE-ValueType
Pfam:Paralemmin 66 136 8.7e-11 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000150412
AA Change: I154F
SMART Domains Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: I154F

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
low complexity region 35 59 N/A INTRINSIC
Pfam:Paralemmin 115 269 6.5e-23 PFAM
low complexity region 396 407 N/A INTRINSIC
low complexity region 457 471 N/A INTRINSIC
coiled coil region 499 557 N/A INTRINSIC
Pfam:AKAP2_C 847 1129 1.9e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Palm2 (paralemmin 2) and Akap2 (A kinase (PRKA) anchor protein 2) genes on chromosome 4. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Similar readthrough transcription has also been observed in human, as described in PMID: 11478809. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,376,085 D191V probably damaging Het
Adcy6 T C 15: 98,600,275 D382G probably damaging Het
Arhgef33 A T 17: 80,365,266 probably benign Het
Armc10 A G 5: 21,646,093 probably benign Het
Bcas1 T A 2: 170,349,252 Q586L probably damaging Het
Ccdc88a A C 11: 29,504,321 probably benign Het
Cep250 T A 2: 155,983,376 C1057S probably benign Het
Ctsm A T 13: 61,540,273 M14K probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Fam71b G T 11: 46,405,397 E199* probably null Het
Frem1 A G 4: 82,950,356 Y1463H possibly damaging Het
Gck A T 11: 5,904,472 M251K probably damaging Het
Gzf1 C T 2: 148,683,650 P14S probably damaging Het
Iws1 A T 18: 32,097,222 K748* probably null Het
Kif15 T A 9: 122,963,471 probably benign Het
Ly6g6f A G 17: 35,080,841 probably benign Het
Mrps30 C T 13: 118,380,610 G358R probably damaging Het
Nfrkb T A 9: 31,396,505 probably benign Het
Olfr1033 C T 2: 86,042,097 P261S probably damaging Het
Pcnt T A 10: 76,370,001 K2506* probably null Het
Pgc G T 17: 47,732,404 G226W probably damaging Het
Pip5k1a C T 3: 95,074,072 V82M probably damaging Het
Plk3 A G 4: 117,130,357 V466A probably damaging Het
Prss44 C A 9: 110,814,677 Q130K probably damaging Het
Rbck1 T C 2: 152,323,232 Y66C probably damaging Het
Rbm6 T C 9: 107,852,882 E189G probably benign Het
Rtn4r G T 16: 18,151,326 R206L probably damaging Het
Ryr2 C T 13: 11,585,480 G4613E probably damaging Het
Sema5a T G 15: 32,417,441 L19R possibly damaging Het
Slc30a5 T C 13: 100,821,145 T139A possibly damaging Het
Slco2a1 T G 9: 103,070,296 S265A possibly damaging Het
Smad4 A G 18: 73,640,473 probably benign Het
St13 C T 15: 81,371,507 R240Q probably damaging Het
Tcea3 A C 4: 136,274,776 probably benign Het
Uhrf1bp1l T C 10: 89,774,120 probably null Het
Vmn1r177 T C 7: 23,866,175 Y92C probably damaging Het
Wnt8b A T 19: 44,511,265 D151V probably damaging Het
Zfp426 T A 9: 20,478,157 M1L possibly damaging Het
Other mutations in Pakap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pakap APN 4 57757627 nonsense probably null
IGL01371:Pakap APN 4 57856325 missense probably benign 0.03
IGL01733:Pakap APN 4 57856488 missense probably benign 0.01
IGL02677:Pakap APN 4 57856263 missense probably benign 0.01
IGL02696:Pakap APN 4 57854663 missense probably damaging 0.97
IGL03067:Pakap APN 4 57648038 missense probably benign 0.02
IGL03343:Pakap APN 4 57688502 missense probably damaging 1.00
R1913:Pakap UTSW 4 57892963 missense probably damaging 1.00
R2339:Pakap UTSW 4 57883180 missense probably damaging 1.00
R5442:Pakap UTSW 4 57637876 missense probably null
Posted On2014-01-21