Incidental Mutation 'IGL02835:Pakap'
ID 391963
Institutional Source Beutler Lab
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 # IGL02835 (G1)
Quality Score 197
Status Validated
Chromosome 4
Chromosomal Location 57434475-57896984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 57883044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 837 (P837A)
Ref Sequence ENSEMBL: ENSMUSP00000103226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043456] [ENSMUST00000098064] [ENSMUST00000098066] [ENSMUST00000102902] [ENSMUST00000102903] [ENSMUST00000107598] [ENSMUST00000107600]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043456
AA Change: P796A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: P796A

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 damaging
Transcript: ENSMUST00000098064
AA Change: P796A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: P796A

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 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
SMART Domains Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729

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
SMART Domains Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729

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 damaging
Transcript: ENSMUST00000107598
AA Change: P796A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: P796A

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 probably damaging
Transcript: ENSMUST00000107600
AA Change: P837A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: P837A

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 unknown
Transcript: ENSMUST00000150412
AA Change: P1039A
SMART Domains Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: P1039A

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
Meta Mutation Damage Score 0.1590 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,937,284 (GRCm39) K208* probably null Het
A530016L24Rik A C 12: 112,461,420 (GRCm39) probably null Het
A830018L16Rik A C 1: 12,042,279 (GRCm39) D433A possibly damaging Het
Abca13 T A 11: 9,401,515 (GRCm39) I3985N probably damaging Het
Abhd17c C T 7: 83,800,731 (GRCm39) D108N probably benign Het
Adam29 C T 8: 56,326,173 (GRCm39) D94N probably damaging Het
Agr2 A G 12: 36,045,903 (GRCm39) D50G probably benign Het
Angptl1 A G 1: 156,686,090 (GRCm39) D392G probably benign Het
Apob A G 12: 8,065,097 (GRCm39) N3989S possibly damaging Het
AU018091 T C 7: 3,218,897 (GRCm39) D12G unknown Het
Cyfip2 A T 11: 46,140,598 (GRCm39) S742T probably benign Het
Dlc1 C T 8: 37,051,055 (GRCm39) S892N probably damaging Het
Dsg1b A G 18: 20,525,071 (GRCm39) N169S possibly damaging Het
Egfem1 T C 3: 29,711,390 (GRCm39) L323P probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fjx1 G A 2: 102,281,092 (GRCm39) A281V possibly damaging Het
Fmn2 T A 1: 174,409,625 (GRCm39) D619E unknown Het
Gm4795 A C 10: 44,882,254 (GRCm39) noncoding transcript Het
Gm5117 T C 8: 32,227,198 (GRCm39) noncoding transcript Het
Gm5250 T C 1: 13,132,418 (GRCm39) noncoding transcript Het
Gtdc1 A T 2: 44,646,324 (GRCm39) Y101* probably null Het
Herc6 T C 6: 57,623,146 (GRCm39) I583T possibly damaging Het
Hyal4 G A 6: 24,765,714 (GRCm39) R356H probably benign Het
Il22ra2 C A 10: 19,502,424 (GRCm39) T81K probably benign Het
Iqcm T A 8: 76,281,511 (GRCm39) probably benign Het
Izumo4 G A 10: 80,540,959 (GRCm39) V220I probably benign Het
Kif16b A T 2: 142,554,133 (GRCm39) D899E probably benign Het
Lrp2 A T 2: 69,335,648 (GRCm39) N1358K probably damaging Het
Lrrk2 A G 15: 91,698,863 (GRCm39) probably null Het
Lyst C T 13: 13,835,685 (GRCm39) T1789M possibly damaging Het
Map4k4 A G 1: 40,049,760 (GRCm39) T732A probably damaging Het
Mdh1b A T 1: 63,757,816 (GRCm39) I305N probably damaging Het
Mettl13 A G 1: 162,373,585 (GRCm39) I222T probably damaging Het
Mtcl2 G A 2: 156,883,854 (GRCm39) T363I possibly damaging Het
Muc4 T C 16: 32,584,319 (GRCm39) F2583L probably benign Het
Nbea C T 3: 55,625,290 (GRCm39) R2267Q possibly damaging Het
Ndfip1 T C 18: 38,589,144 (GRCm39) Y178H probably damaging Het
Nin A T 12: 70,103,512 (GRCm39) F243I probably damaging Het
Nlrp10 A T 7: 108,523,869 (GRCm39) I537K possibly damaging Het
Nup155 T C 15: 8,172,614 (GRCm39) Y867H probably damaging Het
Pik3r4 A C 9: 105,549,905 (GRCm39) I999L probably benign Het
Pitpnm3 G A 11: 71,952,292 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polg2 A T 11: 106,666,266 (GRCm39) V293E probably benign Het
Pramel22 T A 4: 143,380,817 (GRCm39) Y402F probably damaging Het
Prok1 T C 3: 107,144,531 (GRCm39) probably null Het
Ptcd1 T C 5: 145,091,500 (GRCm39) D533G possibly damaging Het
Ptpn13 T C 5: 103,707,891 (GRCm39) V1484A probably damaging Het
Rapgef2 A T 3: 79,000,293 (GRCm39) probably benign Het
Serpinb8 T G 1: 107,530,586 (GRCm39) F121L probably damaging Het
Sh3rf1 T A 8: 61,679,081 (GRCm39) V41E probably damaging Het
Snx13 A G 12: 35,182,126 (GRCm39) N725S possibly damaging Het
Stab1 A T 14: 30,867,981 (GRCm39) probably null Het
Themis A T 10: 28,637,616 (GRCm39) probably benign Het
Trim68 T A 7: 102,327,780 (GRCm39) Y391F probably benign Het
Trmt1 T G 8: 85,423,589 (GRCm39) V327G probably null Het
Vill C T 9: 118,896,513 (GRCm39) T120M 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
IGL02677:Pakap APN 4 57,856,263 (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
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
Predicted Primers PCR Primer
(F):5'- AACAGGTTTGCACTTCGTTCTC -3'
(R):5'- ACACTCAAGGTCACCTTCAG -3'

Sequencing Primer
(F):5'- GCACTTCGTTCTCTTAATGAAACC -3'
(R):5'- TCAAGGTCACCTTCAGAAAAGAG -3'
Posted On 2016-06-08