Incidental Mutation 'R6823:Plekha5'
ID 537725
Institutional Source Beutler Lab
Gene Symbol Plekha5
Ensembl Gene ENSMUSG00000030231
Gene Name pleckstrin homology domain containing, family A member 5
Synonyms 2810431N21Rik, PEPP2
MMRRC Submission 044935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R6823 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 140369780-140542836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140471584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 112 (S112P)
Ref Sequence ENSEMBL: ENSMUSP00000145478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203517] [ENSMUST00000203774] [ENSMUST00000204145] [ENSMUST00000204876]
AlphaFold E9Q6H8
Predicted Effect probably benign
Transcript: ENSMUST00000087622
AA Change: S112P

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: S112P

DomainStartEndE-ValueType
WW 12 44 1.51e-3 SMART
WW 58 90 2.17e-4 SMART
PH 171 271 1.85e-17 SMART
Blast:PH 592 715 7e-39 BLAST
coiled coil region 747 781 N/A INTRINSIC
low complexity region 896 916 N/A INTRINSIC
low complexity region 924 938 N/A INTRINSIC
low complexity region 1206 1224 N/A INTRINSIC
low complexity region 1243 1258 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203517
AA Change: S112P

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: S112P

DomainStartEndE-ValueType
WW 12 44 9e-6 SMART
WW 58 90 1.3e-6 SMART
PH 171 271 8.6e-20 SMART
Blast:PH 586 697 3e-15 BLAST
coiled coil region 702 736 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203774
AA Change: S3P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000144832
Gene: ENSMUSG00000030231
AA Change: S3P

DomainStartEndE-ValueType
PH 62 162 8.6e-20 SMART
Blast:PH 477 511 4e-8 BLAST
low complexity region 512 521 N/A INTRINSIC
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000204145
AA Change: S112P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231
AA Change: S112P

DomainStartEndE-ValueType
WW 12 44 9e-6 SMART
WW 58 90 1.3e-6 SMART
Blast:PH 114 151 6e-14 BLAST
PDB:2DKP|A 163 196 1e-5 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000204876
AA Change: S3P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000145336
Gene: ENSMUSG00000030231
AA Change: S3P

DomainStartEndE-ValueType
PH 62 162 8.6e-20 SMART
Blast:PH 483 517 3e-8 BLAST
low complexity region 518 527 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (81/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,626,735 (GRCm39) probably null Het
Adgrv1 A G 13: 81,705,200 (GRCm39) F1537L probably damaging Het
Aggf1 T C 13: 95,501,231 (GRCm39) S384G probably benign Het
Anxa8 A T 14: 33,816,722 (GRCm39) D204V possibly damaging Het
Asap3 A T 4: 135,954,883 (GRCm39) E71V possibly damaging Het
BC024139 T C 15: 76,003,946 (GRCm39) *773W probably null Het
Bckdhb T C 9: 83,835,814 (GRCm39) V106A possibly damaging Het
Cep250 A G 2: 155,823,379 (GRCm39) D1010G probably benign Het
Chrd T A 16: 20,553,486 (GRCm39) L243Q probably damaging Het
Cib2 G T 9: 54,457,175 (GRCm39) L30I possibly damaging Het
Cpsf7 T A 19: 10,510,248 (GRCm39) L113* probably null Het
Cubn T A 2: 13,449,840 (GRCm39) I895L probably benign Het
Cyp24a1 C A 2: 170,329,899 (GRCm39) R351I probably benign Het
Cyp2a12 A T 7: 26,733,581 (GRCm39) D320V possibly damaging Het
Dact1 C G 12: 71,364,713 (GRCm39) P498R probably benign Het
Diaph1 T A 18: 38,009,436 (GRCm39) probably null Het
Dnah7a A T 1: 53,495,863 (GRCm39) I3198N probably benign Het
Dop1b A T 16: 93,552,373 (GRCm39) I271F possibly damaging Het
Elp1 A G 4: 56,787,939 (GRCm39) Y331H probably damaging Het
Erich3 C A 3: 154,433,074 (GRCm39) F349L probably damaging Het
Fam187b G C 7: 30,688,715 (GRCm39) V358L probably benign Het
Fat4 T A 3: 39,038,088 (GRCm39) H3913Q probably benign Het
Fbxw7 G C 3: 84,865,934 (GRCm39) E118D probably benign Het
Fgf1 A G 18: 38,980,161 (GRCm39) I71T probably damaging Het
Fryl A T 5: 73,222,560 (GRCm39) I2007K probably damaging Het
Galnt2 C G 8: 125,050,750 (GRCm39) P130A probably benign Het
H1f10 G A 6: 87,958,284 (GRCm39) R19C probably damaging Het
Hmga2 A C 10: 120,311,929 (GRCm39) S14A possibly damaging Het
Hoxb4 C T 11: 96,209,480 (GRCm39) probably benign Het
Hr A T 14: 70,802,814 (GRCm39) I756F probably damaging Het
Hspa1b A T 17: 35,177,161 (GRCm39) S275T probably benign Het
Kcnh1 T C 1: 192,187,597 (GRCm39) *99R probably null Het
Kit C A 5: 75,813,309 (GRCm39) L864I probably benign Het
Klk14 A T 7: 43,343,880 (GRCm39) K196* probably null Het
Lmod1 A G 1: 135,252,905 (GRCm39) N53S probably damaging Het
Myh13 T C 11: 67,246,984 (GRCm39) M1235T probably benign Het
Neurl3 T A 1: 36,307,785 (GRCm39) K175* probably null Het
Nlgn2 T A 11: 69,716,750 (GRCm39) K597M probably damaging Het
Npdc1 T C 2: 25,299,121 (GRCm39) M306T probably damaging Het
Obscn C T 11: 58,958,769 (GRCm39) probably null Het
Or1p1b T C 11: 74,130,522 (GRCm39) L44P probably damaging Het
Or52m2 G A 7: 102,263,693 (GRCm39) L168F probably damaging Het
Or8b49 T C 9: 38,506,201 (GRCm39) I228T possibly damaging Het
Pbrm1 A T 14: 30,806,747 (GRCm39) Y1042F probably damaging Het
Pclo T A 5: 14,727,921 (GRCm39) probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Phf12 C T 11: 77,913,337 (GRCm39) Q430* probably null Het
Plaat5 A T 19: 7,616,861 (GRCm39) probably benign Het
Pld3 C T 7: 27,235,322 (GRCm39) R302H probably damaging Het
Pmfbp1 T A 8: 110,256,939 (GRCm39) S548T possibly damaging Het
Ppa1 A T 10: 61,503,382 (GRCm39) I220F probably damaging Het
Ppp2r3d A G 9: 124,439,078 (GRCm38) probably benign Het
Psmg2 A T 18: 67,781,927 (GRCm39) E164D possibly damaging Het
Rarb T C 14: 16,443,824 (GRCm38) R155G probably damaging Het
Rnf215 T C 11: 4,086,609 (GRCm39) L162S probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rtkn2 G A 10: 67,862,462 (GRCm39) V330M probably damaging Het
Slc16a4 A T 3: 107,218,814 (GRCm39) I472F probably benign Het
Snx14 T C 9: 88,276,435 (GRCm39) N617D possibly damaging Het
Spire2 T C 8: 124,083,466 (GRCm39) V150A probably damaging Het
Sptbn1 C A 11: 30,064,787 (GRCm39) R1904M probably damaging Het
Swap70 A G 7: 109,880,510 (GRCm39) E575G possibly damaging Het
Tbxas1 A T 6: 38,896,087 (GRCm39) M1L possibly damaging Het
Tenm3 A T 8: 48,709,872 (GRCm39) V1688D probably damaging Het
Tgfbr3 A T 5: 107,297,780 (GRCm39) S207T probably damaging Het
Timm44 A G 8: 4,317,282 (GRCm39) F248L probably damaging Het
Tmem161a T C 8: 70,633,849 (GRCm39) L170P probably damaging Het
Tmem63a A T 1: 180,788,035 (GRCm39) Y263F possibly damaging Het
Tnfsf9 C A 17: 57,412,513 (GRCm39) L28I probably benign Het
Tph2 T A 10: 115,010,011 (GRCm39) N183I probably benign Het
Ttyh1 T C 7: 4,125,528 (GRCm39) I60T probably damaging Het
Ubn1 T G 16: 4,882,411 (GRCm39) S48A probably damaging Het
Ubr5 T C 15: 37,989,842 (GRCm39) N2019S probably benign Het
Wbp2 T C 11: 115,977,736 (GRCm39) N6D probably benign Het
Wdr59 T A 8: 112,185,672 (GRCm39) E810V possibly damaging Het
Wiz T C 17: 32,579,395 (GRCm39) D220G probably damaging Het
Yipf7 A G 5: 69,674,413 (GRCm39) L244P probably damaging Het
Zdhhc17 T C 10: 110,790,972 (GRCm39) T366A possibly damaging Het
Zfp169 A T 13: 48,644,472 (GRCm39) probably benign Het
Zfp707 C T 15: 75,841,572 (GRCm39) probably benign Het
Zfp788 A G 7: 41,298,984 (GRCm39) H540R probably damaging Het
Other mutations in Plekha5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Plekha5 APN 6 140,515,822 (GRCm39) splice site probably benign
IGL00908:Plekha5 APN 6 140,496,656 (GRCm39) missense probably damaging 1.00
IGL01346:Plekha5 APN 6 140,480,292 (GRCm39) splice site probably benign
IGL01380:Plekha5 APN 6 140,516,042 (GRCm39) splice site probably benign
IGL01406:Plekha5 APN 6 140,518,676 (GRCm39) missense probably damaging 0.99
IGL01408:Plekha5 APN 6 140,516,042 (GRCm39) splice site probably benign
IGL01688:Plekha5 APN 6 140,515,115 (GRCm39) missense probably damaging 0.98
IGL01719:Plekha5 APN 6 140,515,855 (GRCm39) missense probably damaging 1.00
IGL01926:Plekha5 APN 6 140,471,642 (GRCm39) missense probably benign 0.12
IGL01936:Plekha5 APN 6 140,470,621 (GRCm39) missense probably damaging 1.00
IGL02326:Plekha5 APN 6 140,529,576 (GRCm39) nonsense probably null
IGL02544:Plekha5 APN 6 140,535,454 (GRCm39) missense possibly damaging 0.78
IGL02573:Plekha5 APN 6 140,527,742 (GRCm39) missense probably damaging 1.00
IGL02704:Plekha5 APN 6 140,489,592 (GRCm39) missense probably damaging 1.00
IGL02959:Plekha5 APN 6 140,489,904 (GRCm39) missense probably damaging 1.00
Doubletime UTSW 6 140,471,655 (GRCm39) nonsense probably null
R0067:Plekha5 UTSW 6 140,470,629 (GRCm39) missense probably damaging 1.00
R0067:Plekha5 UTSW 6 140,470,629 (GRCm39) missense probably damaging 1.00
R0095:Plekha5 UTSW 6 140,474,323 (GRCm39) missense probably damaging 1.00
R0095:Plekha5 UTSW 6 140,474,323 (GRCm39) missense probably damaging 1.00
R0105:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0107:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0359:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0360:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0362:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0363:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0364:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0365:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0833:Plekha5 UTSW 6 140,535,360 (GRCm39) splice site probably benign
R0835:Plekha5 UTSW 6 140,514,576 (GRCm39) nonsense probably null
R0836:Plekha5 UTSW 6 140,535,360 (GRCm39) splice site probably benign
R0944:Plekha5 UTSW 6 140,515,922 (GRCm39) splice site probably benign
R2015:Plekha5 UTSW 6 140,480,290 (GRCm39) critical splice donor site probably null
R2043:Plekha5 UTSW 6 140,498,530 (GRCm39) splice site probably benign
R2086:Plekha5 UTSW 6 140,516,044 (GRCm39) splice site probably null
R2102:Plekha5 UTSW 6 140,518,603 (GRCm39) missense probably damaging 1.00
R2109:Plekha5 UTSW 6 140,369,942 (GRCm39) missense possibly damaging 0.56
R2135:Plekha5 UTSW 6 140,526,225 (GRCm39) missense possibly damaging 0.66
R2150:Plekha5 UTSW 6 140,516,129 (GRCm39) missense probably damaging 1.00
R2211:Plekha5 UTSW 6 140,471,587 (GRCm39) missense possibly damaging 0.56
R2414:Plekha5 UTSW 6 140,496,582 (GRCm39) missense probably damaging 1.00
R2915:Plekha5 UTSW 6 140,534,925 (GRCm39) missense probably damaging 0.96
R3120:Plekha5 UTSW 6 140,537,367 (GRCm39) missense probably benign 0.00
R3924:Plekha5 UTSW 6 140,516,105 (GRCm39) missense possibly damaging 0.78
R4049:Plekha5 UTSW 6 140,529,597 (GRCm39) missense probably damaging 1.00
R4056:Plekha5 UTSW 6 140,534,958 (GRCm39) missense possibly damaging 0.46
R4077:Plekha5 UTSW 6 140,501,647 (GRCm39) splice site probably null
R4320:Plekha5 UTSW 6 140,489,543 (GRCm39) missense possibly damaging 0.68
R4343:Plekha5 UTSW 6 140,501,780 (GRCm39) missense probably damaging 0.99
R4359:Plekha5 UTSW 6 140,537,414 (GRCm39) missense probably benign 0.07
R4377:Plekha5 UTSW 6 140,525,191 (GRCm39) missense probably damaging 1.00
R4480:Plekha5 UTSW 6 140,472,205 (GRCm39) missense probably damaging 1.00
R4533:Plekha5 UTSW 6 140,516,057 (GRCm39) missense probably damaging 1.00
R4623:Plekha5 UTSW 6 140,496,912 (GRCm39) missense probably damaging 0.98
R4672:Plekha5 UTSW 6 140,470,655 (GRCm39) missense probably damaging 0.98
R4871:Plekha5 UTSW 6 140,471,636 (GRCm39) missense probably damaging 1.00
R4903:Plekha5 UTSW 6 140,532,093 (GRCm39) missense probably damaging 1.00
R5121:Plekha5 UTSW 6 140,525,200 (GRCm39) missense probably damaging 1.00
R5156:Plekha5 UTSW 6 140,372,254 (GRCm39) missense probably damaging 1.00
R5376:Plekha5 UTSW 6 140,496,870 (GRCm39) missense probably damaging 1.00
R5445:Plekha5 UTSW 6 140,498,459 (GRCm39) nonsense probably null
R5753:Plekha5 UTSW 6 140,482,730 (GRCm39) critical splice acceptor site probably null
R5836:Plekha5 UTSW 6 140,372,250 (GRCm39) missense probably damaging 1.00
R5972:Plekha5 UTSW 6 140,518,639 (GRCm39) missense possibly damaging 0.78
R6196:Plekha5 UTSW 6 140,525,179 (GRCm39) missense probably benign 0.28
R6254:Plekha5 UTSW 6 140,532,162 (GRCm39) missense probably damaging 1.00
R6501:Plekha5 UTSW 6 140,471,655 (GRCm39) nonsense probably null
R6620:Plekha5 UTSW 6 140,518,601 (GRCm39) missense probably damaging 1.00
R6663:Plekha5 UTSW 6 140,523,016 (GRCm39) missense probably damaging 1.00
R6992:Plekha5 UTSW 6 140,489,634 (GRCm39) missense probably damaging 1.00
R7196:Plekha5 UTSW 6 140,489,648 (GRCm39) missense possibly damaging 0.83
R7487:Plekha5 UTSW 6 140,516,059 (GRCm39) missense probably benign 0.25
R7493:Plekha5 UTSW 6 140,526,161 (GRCm39) missense probably benign 0.02
R7557:Plekha5 UTSW 6 140,372,271 (GRCm39) missense probably damaging 0.96
R7743:Plekha5 UTSW 6 140,501,712 (GRCm39) missense probably damaging 1.00
R7792:Plekha5 UTSW 6 140,534,950 (GRCm39) missense possibly damaging 0.80
R7808:Plekha5 UTSW 6 140,529,640 (GRCm39) missense probably damaging 1.00
R7910:Plekha5 UTSW 6 140,472,184 (GRCm39) missense possibly damaging 0.89
R7944:Plekha5 UTSW 6 140,526,201 (GRCm39) missense possibly damaging 0.48
R7945:Plekha5 UTSW 6 140,526,201 (GRCm39) missense possibly damaging 0.48
R7992:Plekha5 UTSW 6 140,472,267 (GRCm39) missense probably damaging 1.00
R8979:Plekha5 UTSW 6 140,496,818 (GRCm39) missense probably damaging 1.00
R9024:Plekha5 UTSW 6 140,370,176 (GRCm39) missense probably benign 0.10
R9135:Plekha5 UTSW 6 140,480,239 (GRCm39) missense probably damaging 1.00
R9215:Plekha5 UTSW 6 140,501,733 (GRCm39) missense possibly damaging 0.79
R9241:Plekha5 UTSW 6 140,525,204 (GRCm39) critical splice donor site probably null
R9447:Plekha5 UTSW 6 140,525,192 (GRCm39) missense probably damaging 1.00
R9625:Plekha5 UTSW 6 140,372,253 (GRCm39) missense probably benign 0.24
X0027:Plekha5 UTSW 6 140,370,149 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCACTCATGTTAGGCTAGAATTAG -3'
(R):5'- GCTGATTCAACAGAATACCCATTC -3'

Sequencing Primer
(F):5'- GGTCACCTTTATGCCTGA -3'
(R):5'- TCAACAGAATACCCATTCCCTCATAC -3'
Posted On 2018-10-18