Incidental Mutation 'R2128:Pakap'
ID 227708
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 040131-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R2128 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 57434475-57896984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57854890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 134 (Y134C)
Ref Sequence ENSEMBL: ENSMUSP00000120325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043456] [ENSMUST00000098064] [ENSMUST00000098066] [ENSMUST00000102902] [ENSMUST00000102903] [ENSMUST00000107600] [ENSMUST00000132497] [ENSMUST00000124581] [ENSMUST00000107598] [ENSMUST00000126465]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043456
AA Change: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y114C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: Y114C

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: ENSMUST00000132497
AA Change: Y134C

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000124581
AA Change: Y73C

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119742
Gene: ENSMUSG00000038729
AA Change: Y73C

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107598
AA Change: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y316C
SMART Domains Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: Y316C

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abca6 A G 11: 110,110,475 (GRCm39) I558T probably benign Het
Acot10 T C 15: 20,666,712 (GRCm39) T10A probably benign Het
Adgrl4 T A 3: 151,205,838 (GRCm39) D233E probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Arap1 T A 7: 101,058,527 (GRCm39) L1375H probably damaging Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Atp13a3 G A 16: 30,173,094 (GRCm39) A261V probably damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Cept1 A G 3: 106,420,195 (GRCm39) V213A probably damaging Het
Cit A G 5: 116,123,566 (GRCm39) D1469G possibly damaging Het
Cnga2 A G X: 71,051,394 (GRCm39) Y182C possibly damaging Het
Cox20 A G 1: 178,149,512 (GRCm39) I54V probably benign Het
Dhx8 C A 11: 101,629,235 (GRCm39) D261E probably benign Het
Dnah2 A T 11: 69,349,011 (GRCm39) I2486N probably benign Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Drd1 T C 13: 54,207,572 (GRCm39) Y207C probably damaging Het
Dtl C T 1: 191,290,222 (GRCm39) V222I probably damaging Het
Dync1h1 T C 12: 110,607,316 (GRCm39) Y2636H probably damaging Het
Endog C A 2: 30,062,048 (GRCm39) D154E probably benign Het
Epc1 A T 18: 6,462,954 (GRCm39) V14E probably damaging Het
Ercc4 C A 16: 12,965,798 (GRCm39) T810K probably damaging Het
Fam43b T A 4: 138,123,299 (GRCm39) N7I possibly damaging Het
Fgd1 T C X: 149,869,213 (GRCm39) probably null Het
Filip1 G T 9: 79,726,612 (GRCm39) T669N probably damaging Het
Fndc1 A G 17: 7,997,497 (GRCm39) probably benign Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Gatm T C 2: 122,431,017 (GRCm39) N274S probably damaging Het
Gdf9 A G 11: 53,328,334 (GRCm39) Y430C probably damaging Het
Gga1 C T 15: 78,772,648 (GRCm39) P260S probably damaging Het
Gm11595 A T 11: 99,663,327 (GRCm39) C118S unknown Het
Gm382 G T X: 125,970,274 (GRCm39) V820L possibly damaging Het
Gzmk T A 13: 113,308,548 (GRCm39) I179F probably damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Hus1 A G 11: 8,956,011 (GRCm39) M174T probably damaging Het
Ifngr2 T A 16: 91,359,761 (GRCm39) Y289* probably null Het
Il6st T A 13: 112,640,709 (GRCm39) H828Q probably benign Het
Impg2 T A 16: 56,038,742 (GRCm39) Y127N probably damaging Het
Irf3 T A 7: 44,651,168 (GRCm39) W345R probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Klhl42 A G 6: 147,003,251 (GRCm39) T342A probably benign Het
Kndc1 G T 7: 139,510,025 (GRCm39) R1289L probably damaging Het
Knl1 A T 2: 118,902,300 (GRCm39) T1334S possibly damaging Het
L3mbtl3 G T 10: 26,189,766 (GRCm39) D499E unknown Het
Ldhd T A 8: 112,353,680 (GRCm39) M478L probably benign Het
Loxl4 C G 19: 42,592,402 (GRCm39) E385D probably damaging Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 T A 4: 123,386,567 (GRCm39) I1017F probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mamdc4 T C 2: 25,459,270 (GRCm39) D195G probably damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Mycbp2 T C 14: 103,438,666 (GRCm39) M2072V probably benign Het
Nck1 A G 9: 100,379,600 (GRCm39) probably null Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Nek11 A T 9: 105,177,560 (GRCm39) D230E probably benign Het
Nit2 T C 16: 56,981,559 (GRCm39) K67E possibly damaging Het
Or12j2 C T 7: 139,916,342 (GRCm39) T189M probably damaging Het
Or5ae1 T C 7: 84,565,701 (GRCm39) F238S probably damaging Het
Or6a2 T C 7: 106,600,455 (GRCm39) D204G probably damaging Het
Or6c1 A T 10: 129,518,401 (GRCm39) V69E possibly damaging Het
Pccb G C 9: 100,867,884 (GRCm39) D347E probably damaging Het
Plcl1 T A 1: 55,736,997 (GRCm39) F779L probably damaging Het
Prune2 C A 19: 17,099,786 (GRCm39) D1763E probably benign Het
Pwwp2a A G 11: 43,596,145 (GRCm39) S437G probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rapgef4 T A 2: 72,056,897 (GRCm39) I552N possibly damaging Het
Scn7a A T 2: 66,528,330 (GRCm39) I720K probably damaging Het
Scn9a T A 2: 66,356,998 (GRCm39) N1101I probably damaging Het
Siglec1 A T 2: 130,922,417 (GRCm39) Y553N probably damaging Het
Slc22a23 A G 13: 34,387,953 (GRCm39) L381P possibly damaging Het
Slc7a11 T A 3: 50,338,558 (GRCm39) T284S probably damaging Het
Slc8a2 T A 7: 15,874,417 (GRCm39) probably null Het
Snx29 T A 16: 11,218,835 (GRCm39) S224T probably damaging Het
Stimate T C 14: 30,588,581 (GRCm39) Y103H probably damaging Het
Stox1 T C 10: 62,500,314 (GRCm39) T749A probably benign Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Top2a A C 11: 98,900,633 (GRCm39) V609G probably damaging Het
Trmt44 G A 5: 35,732,176 (GRCm39) P72S probably benign Het
Ttll3 G C 6: 113,389,895 (GRCm39) S760T probably benign Het
Ttn T C 2: 76,579,022 (GRCm39) D23957G probably damaging Het
Ttn G A 2: 76,664,241 (GRCm39) probably benign Het
Ubxn1 T G 19: 8,849,434 (GRCm39) V59G probably benign Het
Ubxn4 T C 1: 128,172,247 (GRCm39) S14P probably benign Het
Uso1 T A 5: 92,343,229 (GRCm39) M771K probably benign Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Vmn2r19 A G 6: 123,285,289 (GRCm39) probably null Het
Vps36 G T 8: 22,708,305 (GRCm39) probably null Het
Wnt3 A G 11: 103,703,474 (GRCm39) H319R possibly damaging Het
Zbtb26 G T 2: 37,326,563 (GRCm39) Q158K probably benign Het
Zfp648 T C 1: 154,080,353 (GRCm39) S171P 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
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
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'- TGTACCTGGAGTCACCTCTACC -3'
(R):5'- AGTGTGAACTCCCCATCTCG -3'

Sequencing Primer
(F):5'- CCCCCATTCCAAGGACCACTC -3'
(R):5'- TGTTCCCCAGCAGGTCTTGG -3'
Posted On 2014-09-17