Incidental Mutation 'IGL02677:Pakap'
ID 303164
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pakap
Ensembl Gene ENSMUSG00000089945
Gene Name paralemmin A kinase anchor protein
Synonyms Palm2-Akap2, Akap2, AKAP-KL, Palm2Akap2, Gm20459, AF064781, B230340M18Rik, 53-H12, pEN70, Palm2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL02677
Quality Score
Status
Chromosome 4
Chromosomal Location 57434475-57896984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57856263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 572 (P572S)
Ref Sequence ENSEMBL: ENSMUSP00000103226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043456] [ENSMUST00000098064] [ENSMUST00000098066] [ENSMUST00000102902] [ENSMUST00000102903] [ENSMUST00000107600] [ENSMUST00000107598] [ENSMUST00000126465] [ENSMUST00000124581] [ENSMUST00000132497]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043456
AA Change: P531S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: P531S

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:AKAP2_C 568 885 2.5e-17 PFAM
Pfam:RII_binding_1 585 602 1.6e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098064
AA Change: P531S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: P531S

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:AKAP2_C 569 872 4e-13 PFAM
Pfam:RII_binding_1 585 602 2.9e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098065
Predicted Effect probably benign
Transcript: ENSMUST00000098066
SMART Domains Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102902
AA Change: P531S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: P531S

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:RII_binding_1 585 602 3.5e-5 PFAM
coiled coil region 730 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102903
AA Change: P531S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: P531S

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:RII_binding_1 585 602 3.5e-5 PFAM
coiled coil region 730 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107600
AA Change: P572S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: P572S

DomainStartEndE-ValueType
low complexity region 193 204 N/A INTRINSIC
low complexity region 254 268 N/A INTRINSIC
coiled coil region 297 355 N/A INTRINSIC
Pfam:AKAP2_C 636 913 2.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107598
AA Change: P531S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: P531S

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:AKAP2_C 569 872 4e-13 PFAM
Pfam:RII_binding_1 585 602 2.9e-5 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000150412
AA Change: P774S
SMART Domains Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: P774S

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
Predicted Effect probably benign
Transcript: ENSMUST00000126465
SMART Domains Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124581
SMART Domains Protein: ENSMUSP00000119742
Gene: ENSMUSG00000038729

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132497
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign Het
Other mutations in Pakap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pakap APN 4 57,757,627 (GRCm39) nonsense probably null
IGL01371:Pakap APN 4 57,856,325 (GRCm39) missense probably benign 0.03
IGL01647:Pakap APN 4 57,688,477 (GRCm39) missense possibly damaging 0.82
IGL01733:Pakap APN 4 57,856,488 (GRCm39) missense probably benign 0.01
IGL02696:Pakap APN 4 57,854,663 (GRCm39) missense probably damaging 0.97
IGL02736:Pakap APN 4 57,709,721 (GRCm39) missense probably damaging 0.96
IGL03067:Pakap APN 4 57,648,038 (GRCm39) missense probably benign 0.02
IGL03343:Pakap APN 4 57,688,502 (GRCm39) missense probably damaging 1.00
A9681:Pakap UTSW 4 57,855,358 (GRCm39) missense probably damaging 1.00
IGL02835:Pakap UTSW 4 57,883,044 (GRCm39) missense probably damaging 1.00
PIT4305001:Pakap UTSW 4 57,638,029 (GRCm39) missense possibly damaging 0.94
R0158:Pakap UTSW 4 57,709,649 (GRCm39) missense possibly damaging 0.96
R0244:Pakap UTSW 4 57,710,177 (GRCm39) missense possibly damaging 0.74
R0284:Pakap UTSW 4 57,855,207 (GRCm39) missense probably damaging 1.00
R0356:Pakap UTSW 4 57,855,628 (GRCm39) missense possibly damaging 0.48
R0594:Pakap UTSW 4 57,856,752 (GRCm39) missense probably benign 0.00
R0614:Pakap UTSW 4 57,856,720 (GRCm39) missense probably benign 0.41
R0617:Pakap UTSW 4 57,829,434 (GRCm39) intron probably benign
R0763:Pakap UTSW 4 57,688,441 (GRCm39) missense probably damaging 1.00
R0800:Pakap UTSW 4 57,709,650 (GRCm39) missense probably benign 0.06
R1228:Pakap UTSW 4 57,856,909 (GRCm39) missense probably damaging 1.00
R1861:Pakap UTSW 4 57,709,468 (GRCm39) missense probably damaging 0.97
R1895:Pakap UTSW 4 57,638,068 (GRCm39) missense probably benign 0.01
R1913:Pakap UTSW 4 57,892,963 (GRCm39) missense probably damaging 1.00
R2081:Pakap UTSW 4 57,855,927 (GRCm39) missense possibly damaging 0.49
R2128:Pakap UTSW 4 57,854,890 (GRCm39) missense probably benign 0.40
R2339:Pakap UTSW 4 57,883,180 (GRCm39) missense probably damaging 1.00
R4600:Pakap UTSW 4 57,709,954 (GRCm39) missense probably benign 0.26
R4667:Pakap UTSW 4 57,855,655 (GRCm39) missense possibly damaging 0.80
R4804:Pakap UTSW 4 57,854,688 (GRCm39) missense probably benign 0.05
R4989:Pakap UTSW 4 57,856,552 (GRCm39) missense probably benign
R5135:Pakap UTSW 4 57,855,912 (GRCm39) missense probably benign 0.00
R5292:Pakap UTSW 4 57,855,356 (GRCm39) missense probably damaging 0.98
R5420:Pakap UTSW 4 57,856,434 (GRCm39) missense probably damaging 1.00
R5420:Pakap UTSW 4 57,856,062 (GRCm39) missense probably benign 0.08
R5442:Pakap UTSW 4 57,637,876 (GRCm39) missense probably null
R5517:Pakap UTSW 4 57,855,987 (GRCm39) missense probably damaging 0.99
R5648:Pakap UTSW 4 57,854,848 (GRCm39) missense probably damaging 1.00
R5886:Pakap UTSW 4 57,856,295 (GRCm39) missense probably damaging 1.00
R5993:Pakap UTSW 4 57,855,273 (GRCm39) missense possibly damaging 0.86
R6133:Pakap UTSW 4 57,855,516 (GRCm39) nonsense probably null
R6189:Pakap UTSW 4 57,855,928 (GRCm39) missense probably benign 0.00
R6221:Pakap UTSW 4 57,855,618 (GRCm39) nonsense probably null
R6320:Pakap UTSW 4 57,710,173 (GRCm39) missense probably damaging 1.00
R6365:Pakap UTSW 4 57,709,675 (GRCm39) nonsense probably null
R6532:Pakap UTSW 4 57,855,174 (GRCm39) missense probably benign 0.00
R6760:Pakap UTSW 4 57,856,026 (GRCm39) missense probably damaging 1.00
R6792:Pakap UTSW 4 57,855,880 (GRCm39) missense possibly damaging 0.90
R6983:Pakap UTSW 4 57,709,973 (GRCm39) missense probably damaging 1.00
R7090:Pakap UTSW 4 57,648,042 (GRCm39) missense probably benign 0.00
R7128:Pakap UTSW 4 57,855,816 (GRCm39) missense probably benign 0.03
R7269:Pakap UTSW 4 57,855,217 (GRCm39) missense probably damaging 1.00
R7726:Pakap UTSW 4 57,709,876 (GRCm39) missense probably damaging 1.00
R7744:Pakap UTSW 4 57,709,519 (GRCm39) missense probably damaging 0.97
R7837:Pakap UTSW 4 57,855,262 (GRCm39) missense probably damaging 1.00
R7940:Pakap UTSW 4 57,883,026 (GRCm39) missense probably damaging 0.98
R7946:Pakap UTSW 4 57,710,045 (GRCm39) missense probably damaging 1.00
R8094:Pakap UTSW 4 57,886,319 (GRCm39) missense possibly damaging 0.81
R8275:Pakap UTSW 4 57,886,329 (GRCm39) critical splice donor site probably null
R8702:Pakap UTSW 4 57,709,489 (GRCm39) nonsense probably null
R8836:Pakap UTSW 4 57,709,916 (GRCm39) missense probably benign 0.01
R9010:Pakap UTSW 4 57,883,192 (GRCm39) missense probably damaging 1.00
R9016:Pakap UTSW 4 57,637,857 (GRCm39) missense unknown
R9060:Pakap UTSW 4 57,855,412 (GRCm39) missense probably damaging 1.00
R9215:Pakap UTSW 4 57,709,595 (GRCm39) missense probably damaging 0.97
R9652:Pakap UTSW 4 57,710,125 (GRCm39) missense possibly damaging 0.51
X0065:Pakap UTSW 4 57,709,805 (GRCm39) missense probably benign
Z1177:Pakap UTSW 4 57,856,348 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16