Incidental Mutation 'R5517:Pakap'
ID 431332
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
MMRRC Submission 043076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R5517 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 57434475-57896984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57855987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 439 (Y439H)
Ref Sequence ENSEMBL: ENSMUSP00000103224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043456] [ENSMUST00000098064] [ENSMUST00000098066] [ENSMUST00000102902] [ENSMUST00000102903] [ENSMUST00000107598] [ENSMUST00000107600] [ENSMUST00000126465] [ENSMUST00000132497] [ENSMUST00000124581]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043456
AA Change: Y439H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: Y439H

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: Y439H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: Y439H

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 damaging
Transcript: ENSMUST00000102902
AA Change: Y439H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: Y439H

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: ENSMUST00000102903
AA Change: Y439H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: Y439H

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: Y439H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: Y439H

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: ENSMUST00000107600
AA Change: Y480H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: Y480H

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: Y682H
SMART Domains Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: Y682H

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: ENSMUST00000132497
Predicted Effect probably benign
Transcript: ENSMUST00000124581
SMART Domains Protein: ENSMUSP00000119742
Gene: ENSMUSG00000038729

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
Meta Mutation Damage Score 0.0950 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.2%
  • 20x: 90.5%
Validation Efficiency 99% (67/68)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,269,233 (GRCm39) R675K possibly damaging Het
Aire A T 10: 77,875,525 (GRCm39) S282T probably benign Het
Ak9 A G 10: 41,216,887 (GRCm39) E283G probably benign Het
Akap9 T A 5: 4,051,665 (GRCm39) D1477E possibly damaging Het
Ap2a1 T C 7: 44,556,405 (GRCm39) D273G possibly damaging Het
Apob T C 12: 8,040,906 (GRCm39) L664P probably damaging Het
Arhgap35 A T 7: 16,297,414 (GRCm39) F550L probably damaging Het
Armc2 T C 10: 41,839,846 (GRCm39) E373G probably benign Het
Atp8b2 C A 3: 89,853,338 (GRCm39) A726S probably benign Het
C030048H21Rik T A 2: 26,145,899 (GRCm39) Q87L probably damaging Het
Cd244a T A 1: 171,405,542 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,326 (GRCm39) probably null Het
Cenpe C A 3: 134,929,026 (GRCm39) P310Q probably damaging Het
Chuk T A 19: 44,085,972 (GRCm39) probably null Het
Crebl2 T C 6: 134,828,139 (GRCm39) S104P probably benign Het
Ddo A G 10: 40,523,726 (GRCm39) K239E probably benign Het
Defb5 A G 8: 19,300,868 (GRCm39) probably null Het
Dhx35 T A 2: 158,676,832 (GRCm39) M422K probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gatm G A 2: 122,426,024 (GRCm39) T409I probably damaging Het
Gdpd1 A T 11: 86,950,332 (GRCm39) D80E probably damaging Het
Gspt1 C A 16: 11,071,843 (GRCm39) G7C unknown Het
Hells G A 19: 38,943,244 (GRCm39) S516N probably benign Het
Ints1 A G 5: 139,738,542 (GRCm39) S2069P possibly damaging Het
Kank4 G A 4: 98,663,118 (GRCm39) T690M probably damaging Het
Kcnq4 T C 4: 120,573,006 (GRCm39) N265S possibly damaging Het
Kif5b C A 18: 6,220,954 (GRCm39) A385S probably benign Het
Map2 T C 1: 66,454,415 (GRCm39) S1102P probably benign Het
Mcm7 A G 5: 138,163,133 (GRCm39) S340P possibly damaging Het
Mcrs1 C T 15: 99,144,876 (GRCm39) R246H possibly damaging Het
Myo16 T A 8: 10,610,226 (GRCm39) M1189K probably benign Het
Or4d2 A T 11: 87,783,892 (GRCm39) I286N probably damaging Het
Or4k52 G T 2: 111,610,804 (GRCm39) M46I probably benign Het
Or7g29 G A 9: 19,287,063 (GRCm39) T38I probably damaging Het
Otog A G 7: 45,923,995 (GRCm39) N1118S probably damaging Het
Pcdhb7 G T 18: 37,474,846 (GRCm39) probably benign Het
Picalm C T 7: 89,819,806 (GRCm39) T189I possibly damaging Het
Ptx4 T A 17: 25,343,760 (GRCm39) S337T possibly damaging Het
Rad51ap2 C T 12: 11,508,313 (GRCm39) S745L probably benign Het
Rspry1 G A 8: 95,363,388 (GRCm39) probably null Het
Scn5a T G 9: 119,324,779 (GRCm39) I1350L probably damaging Het
Sgk2 T C 2: 162,839,755 (GRCm39) L121P probably damaging Het
Slc17a1 A T 13: 24,056,575 (GRCm39) probably benign Het
Slc6a12 A G 6: 121,331,298 (GRCm39) N183S probably benign Het
Smg9 C A 7: 24,114,338 (GRCm39) probably benign Het
Spred1 G A 2: 117,008,195 (GRCm39) S367N probably damaging Het
Srpra T C 9: 35,122,646 (GRCm39) V21A probably benign Het
Taar2 A T 10: 23,816,627 (GRCm39) I56F possibly damaging Het
Taf1a T G 1: 183,177,323 (GRCm39) L67R probably damaging Het
Tbc1d10b C A 7: 126,797,779 (GRCm39) R787S possibly damaging Het
Topbp1 T A 9: 103,213,313 (GRCm39) N1044K probably benign Het
Usp24 A G 4: 106,232,871 (GRCm39) T886A probably benign Het
Vmn2r26 A G 6: 124,027,676 (GRCm39) D472G probably damaging Het
Zyg11a T C 4: 108,061,943 (GRCm39) N286S possibly damaging 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
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 57,856,062 (GRCm39) missense probably benign 0.08
R5420:Pakap UTSW 4 57,856,434 (GRCm39) missense probably damaging 1.00
R5442:Pakap UTSW 4 57,637,876 (GRCm39) missense probably null
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'- TCCATCCATTCGGACAAGC -3'
(R):5'- TCATTGGACAGAGTCTCCAGG -3'

Sequencing Primer
(F):5'- GCCACCGACCATCTTGAG -3'
(R):5'- AGTCTCCAGGACAGTGGTATC -3'
Posted On 2016-10-05