Incidental Mutation 'R7609:Plekha7'
ID 588488
Institutional Source Beutler Lab
Gene Symbol Plekha7
Ensembl Gene ENSMUSG00000045659
Gene Name pleckstrin homology domain containing, family A member 7
Synonyms A430081P20Rik
MMRRC Submission 045714-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R7609 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 115722720-115907611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115763681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 307 (D307G)
Ref Sequence ENSEMBL: ENSMUSP00000138575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182834] [ENSMUST00000216517]
AlphaFold Q3UIL6
Predicted Effect probably benign
Transcript: ENSMUST00000084664
AA Change: D71G

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: D71G

DomainStartEndE-ValueType
Blast:PH 1 47 2e-23 BLAST
SCOP:d1kz7a2 18 69 1e-5 SMART
low complexity region 100 112 N/A INTRINSIC
low complexity region 141 154 N/A INTRINSIC
low complexity region 322 351 N/A INTRINSIC
coiled coil region 461 500 N/A INTRINSIC
coiled coil region 529 562 N/A INTRINSIC
low complexity region 677 693 N/A INTRINSIC
coiled coil region 828 856 N/A INTRINSIC
low complexity region 947 959 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181981
AA Change: D202G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: D202G

DomainStartEndE-ValueType
PH 59 178 1.42e-18 SMART
low complexity region 231 243 N/A INTRINSIC
low complexity region 272 285 N/A INTRINSIC
low complexity region 453 482 N/A INTRINSIC
coiled coil region 592 631 N/A INTRINSIC
coiled coil region 660 693 N/A INTRINSIC
low complexity region 808 824 N/A INTRINSIC
coiled coil region 959 987 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181998
AA Change: D307G

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: D307G

DomainStartEndE-ValueType
WW 9 41 4.51e-2 SMART
WW 54 86 7.79e-6 SMART
PH 164 283 1.42e-18 SMART
low complexity region 336 348 N/A INTRINSIC
low complexity region 377 390 N/A INTRINSIC
low complexity region 558 587 N/A INTRINSIC
coiled coil region 697 736 N/A INTRINSIC
coiled coil region 765 798 N/A INTRINSIC
low complexity region 913 929 N/A INTRINSIC
coiled coil region 1064 1092 N/A INTRINSIC
low complexity region 1183 1195 N/A INTRINSIC
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000182487
AA Change: D307G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: D307G

DomainStartEndE-ValueType
WW 9 41 4.51e-2 SMART
WW 54 86 7.79e-6 SMART
PH 164 283 1.42e-18 SMART
low complexity region 336 348 N/A INTRINSIC
low complexity region 377 390 N/A INTRINSIC
low complexity region 558 587 N/A INTRINSIC
coiled coil region 697 736 N/A INTRINSIC
coiled coil region 765 798 N/A INTRINSIC
low complexity region 913 929 N/A INTRINSIC
coiled coil region 1064 1092 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182511
AA Change: D245G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: D245G

DomainStartEndE-ValueType
PH 102 221 1.42e-18 SMART
low complexity region 274 286 N/A INTRINSIC
low complexity region 315 328 N/A INTRINSIC
low complexity region 496 525 N/A INTRINSIC
coiled coil region 635 674 N/A INTRINSIC
coiled coil region 703 736 N/A INTRINSIC
low complexity region 851 867 N/A INTRINSIC
coiled coil region 1002 1030 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182834
AA Change: D261G

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: D261G

DomainStartEndE-ValueType
PH 118 237 1.42e-18 SMART
low complexity region 290 302 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
low complexity region 512 541 N/A INTRINSIC
coiled coil region 651 690 N/A INTRINSIC
coiled coil region 719 752 N/A INTRINSIC
low complexity region 867 883 N/A INTRINSIC
coiled coil region 1018 1046 N/A INTRINSIC
low complexity region 1137 1149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000216517
AA Change: D307G

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (69/72)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele show decreased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,896,744 (GRCm39) Y288C probably benign Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Agl C A 3: 116,600,928 (GRCm39) R24I possibly damaging Het
Aldoart2 A G 12: 55,612,833 (GRCm39) T253A probably benign Het
Ankrd39 G A 1: 36,578,546 (GRCm39) R160W probably damaging Het
Aspscr1 C T 11: 120,568,348 (GRCm39) T57M probably damaging Het
Baz2b A G 2: 59,792,817 (GRCm39) L437S probably benign Het
Bcl9l T A 9: 44,417,044 (GRCm39) L331Q probably damaging Het
Cdhr4 C A 9: 107,874,482 (GRCm39) P546T probably damaging Het
Cfap61 T C 2: 145,954,453 (GRCm39) C231R unknown Het
Cnih4 T C 1: 180,983,467 (GRCm39) L61P probably damaging Het
Dtx4 A G 19: 12,469,645 (GRCm39) Y161H probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ercc6 A G 14: 32,288,318 (GRCm39) H830R probably benign Het
Exoc7 T C 11: 116,180,085 (GRCm39) N673S possibly damaging Het
Gm12185 T C 11: 48,806,850 (GRCm39) S114G possibly damaging Het
Hsfy2 A T 1: 56,676,310 (GRCm39) F76I probably benign Het
Igsf9b A G 9: 27,257,186 (GRCm39) D1413G probably benign Het
Klk1b8 G A 7: 43,451,603 (GRCm39) C198Y probably damaging Het
Lama3 G T 18: 12,664,891 (GRCm39) probably null Het
Lce3f A T 3: 92,900,403 (GRCm39) S75C unknown Het
Ldhal6b T C 17: 5,468,266 (GRCm39) M223V probably benign Het
Magoh T C 4: 107,744,409 (GRCm39) V126A possibly damaging Het
Mc1r A T 8: 124,135,032 (GRCm39) I262F probably damaging Het
Mecom A G 3: 30,010,591 (GRCm39) I629T probably damaging Het
Mkrn2os A G 6: 115,563,687 (GRCm39) V116A possibly damaging Het
Mtcl3 A T 10: 29,024,224 (GRCm39) D380V probably damaging Het
Muc5b T A 7: 141,415,466 (GRCm39) V2804D possibly damaging Het
Myo15a T C 11: 60,379,637 (GRCm39) V279A Het
Nhlrc2 A G 19: 56,583,328 (GRCm39) I600V probably benign Het
Nipbl T C 15: 8,335,356 (GRCm39) Q2183R probably benign Het
Obscn C T 11: 58,891,125 (GRCm39) E7136K unknown Het
Or10ag56 T C 2: 87,139,853 (GRCm39) V260A probably benign Het
Or5p4 T A 7: 107,680,753 (GRCm39) F251I probably damaging Het
Or8c9 A C 9: 38,241,520 (GRCm39) L209F possibly damaging Het
Or8g37 C T 9: 39,731,583 (GRCm39) T216I probably benign Het
Otop3 T C 11: 115,230,546 (GRCm39) I141T possibly damaging Het
Pde4dip C A 3: 97,622,881 (GRCm39) V1443F possibly damaging Het
Pdgfra T C 5: 75,327,382 (GRCm39) V193A probably benign Het
Phf3 T C 1: 30,844,582 (GRCm39) Y1459C probably benign Het
Pias4 A T 10: 80,993,860 (GRCm39) probably null Het
Plcg2 A G 8: 118,284,852 (GRCm39) N159S probably benign Het
Ptprd T C 4: 75,990,240 (GRCm39) K491E probably benign Het
Rbpjl A T 2: 164,247,734 (GRCm39) R62S probably benign Het
Rgs11 T C 17: 26,426,415 (GRCm39) S245P probably damaging Het
Ripor3 G A 2: 167,826,490 (GRCm39) A685V possibly damaging Het
Rnase9 G A 14: 51,276,940 (GRCm39) P13S possibly damaging Het
Saxo5 A T 8: 3,526,057 (GRCm39) H70L probably benign Het
Scin C T 12: 40,174,588 (GRCm39) C165Y probably damaging Het
Senp7 T C 16: 55,932,000 (GRCm39) W100R probably benign Het
Slc26a2 T C 18: 61,331,532 (GRCm39) D633G probably benign Het
Slc4a4 C T 5: 89,283,545 (GRCm39) P446S probably damaging Het
Spag17 T A 3: 100,002,911 (GRCm39) C1878* probably null Het
Ssc5d A G 7: 4,930,575 (GRCm39) E129G possibly damaging Het
Supt6 T C 11: 78,117,777 (GRCm39) N480D probably benign Het
Tbk1 A G 10: 121,388,406 (GRCm39) L590S probably damaging Het
Tmem63a T A 1: 180,780,539 (GRCm39) probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trio A G 15: 27,912,728 (GRCm39) S109P unknown Het
Tsga10 A T 1: 37,843,974 (GRCm39) probably null Het
Ttn A T 2: 76,626,107 (GRCm39) L14984* probably null Het
Tyr T C 7: 87,133,092 (GRCm39) T325A probably benign Het
U2surp A T 9: 95,367,732 (GRCm39) probably null Het
Uba6 C A 5: 86,294,934 (GRCm39) K368N probably benign Het
Upb1 A G 10: 75,272,035 (GRCm39) T283A probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,455 (GRCm39) Y137H probably damaging Het
Wdtc1 T C 4: 133,023,748 (GRCm39) K541R probably damaging Het
Wrn A G 8: 33,800,741 (GRCm39) I624T possibly damaging Het
Zfp804b T A 5: 6,820,066 (GRCm39) D999V possibly damaging Het
Zmym4 T A 4: 126,819,588 (GRCm39) H105L probably benign Het
Other mutations in Plekha7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Plekha7 APN 7 115,734,419 (GRCm39) missense probably damaging 1.00
IGL01133:Plekha7 APN 7 115,744,476 (GRCm39) splice site probably null
IGL01146:Plekha7 APN 7 115,756,708 (GRCm39) splice site probably benign
IGL01307:Plekha7 APN 7 115,744,479 (GRCm39) splice site probably benign
IGL02063:Plekha7 APN 7 115,739,936 (GRCm39) missense possibly damaging 0.78
IGL02110:Plekha7 APN 7 115,753,863 (GRCm39) splice site probably null
IGL02420:Plekha7 APN 7 115,757,469 (GRCm39) missense probably damaging 1.00
IGL02660:Plekha7 APN 7 115,756,809 (GRCm39) splice site probably benign
IGL02851:Plekha7 APN 7 115,734,413 (GRCm39) missense probably damaging 1.00
Plexus UTSW 7 115,747,559 (GRCm39) missense probably benign 0.07
R0614_Plekha7_947 UTSW 7 115,753,880 (GRCm39) nonsense probably null
R4750_Plekha7_499 UTSW 7 115,736,546 (GRCm39) missense probably damaging 1.00
R4810_Plekha7_997 UTSW 7 115,744,173 (GRCm39) missense probably damaging 1.00
Rhexis UTSW 7 115,736,403 (GRCm39) splice site probably null
R0066:Plekha7 UTSW 7 115,756,743 (GRCm39) missense probably damaging 1.00
R0066:Plekha7 UTSW 7 115,756,743 (GRCm39) missense probably damaging 1.00
R0130:Plekha7 UTSW 7 115,769,939 (GRCm39) missense probably damaging 0.99
R0348:Plekha7 UTSW 7 115,757,255 (GRCm39) missense probably damaging 1.00
R0595:Plekha7 UTSW 7 115,744,203 (GRCm39) missense probably damaging 1.00
R0614:Plekha7 UTSW 7 115,753,880 (GRCm39) nonsense probably null
R0732:Plekha7 UTSW 7 115,744,472 (GRCm39) missense probably damaging 1.00
R1664:Plekha7 UTSW 7 115,734,269 (GRCm39) splice site probably null
R1695:Plekha7 UTSW 7 115,727,920 (GRCm39) missense probably damaging 1.00
R1794:Plekha7 UTSW 7 115,739,916 (GRCm39) missense probably damaging 1.00
R1895:Plekha7 UTSW 7 115,744,209 (GRCm39) missense probably damaging 1.00
R2153:Plekha7 UTSW 7 115,775,002 (GRCm39) missense probably damaging 1.00
R3106:Plekha7 UTSW 7 115,763,639 (GRCm39) missense probably benign 0.02
R3605:Plekha7 UTSW 7 115,763,477 (GRCm39) missense possibly damaging 0.68
R3606:Plekha7 UTSW 7 115,763,477 (GRCm39) missense possibly damaging 0.68
R3789:Plekha7 UTSW 7 115,774,969 (GRCm39) missense probably damaging 1.00
R4584:Plekha7 UTSW 7 115,836,768 (GRCm39) intron probably benign
R4750:Plekha7 UTSW 7 115,736,546 (GRCm39) missense probably damaging 1.00
R4774:Plekha7 UTSW 7 115,744,178 (GRCm39) missense probably damaging 1.00
R4810:Plekha7 UTSW 7 115,744,173 (GRCm39) missense probably damaging 1.00
R4895:Plekha7 UTSW 7 115,788,626 (GRCm39) splice site probably null
R4925:Plekha7 UTSW 7 115,757,363 (GRCm39) missense probably damaging 1.00
R5556:Plekha7 UTSW 7 115,763,384 (GRCm39) missense probably benign 0.20
R5599:Plekha7 UTSW 7 115,776,117 (GRCm39) splice site probably null
R5848:Plekha7 UTSW 7 115,739,634 (GRCm39) missense probably damaging 1.00
R5928:Plekha7 UTSW 7 115,727,809 (GRCm39) missense probably benign
R5941:Plekha7 UTSW 7 115,724,040 (GRCm39) missense possibly damaging 0.56
R6351:Plekha7 UTSW 7 115,776,133 (GRCm39) missense probably damaging 1.00
R6520:Plekha7 UTSW 7 115,763,717 (GRCm39) missense probably benign 0.16
R6699:Plekha7 UTSW 7 115,734,410 (GRCm39) missense probably damaging 1.00
R6781:Plekha7 UTSW 7 115,757,090 (GRCm39) critical splice donor site probably null
R6843:Plekha7 UTSW 7 115,742,555 (GRCm39) missense probably benign 0.45
R6977:Plekha7 UTSW 7 115,735,202 (GRCm39) missense probably benign 0.01
R7048:Plekha7 UTSW 7 115,747,559 (GRCm39) missense probably benign 0.07
R7269:Plekha7 UTSW 7 115,780,447 (GRCm39) missense probably damaging 1.00
R7480:Plekha7 UTSW 7 115,736,403 (GRCm39) splice site probably null
R7520:Plekha7 UTSW 7 115,736,519 (GRCm39) missense possibly damaging 0.95
R7680:Plekha7 UTSW 7 115,763,511 (GRCm39) missense probably benign 0.00
R7820:Plekha7 UTSW 7 115,836,715 (GRCm39) missense probably benign 0.12
R7989:Plekha7 UTSW 7 115,757,558 (GRCm39) missense probably benign 0.04
R8383:Plekha7 UTSW 7 115,744,154 (GRCm39) missense probably damaging 0.98
R8523:Plekha7 UTSW 7 115,907,164 (GRCm39) missense probably benign 0.01
R8863:Plekha7 UTSW 7 115,753,875 (GRCm39) missense probably damaging 1.00
R8920:Plekha7 UTSW 7 115,744,218 (GRCm39) missense probably benign 0.13
R8926:Plekha7 UTSW 7 115,756,223 (GRCm39) splice site probably benign
R9176:Plekha7 UTSW 7 115,739,926 (GRCm39) missense possibly damaging 0.94
R9576:Plekha7 UTSW 7 115,728,669 (GRCm39) missense possibly damaging 0.91
Z1177:Plekha7 UTSW 7 115,907,206 (GRCm39) missense probably damaging 1.00
Z1177:Plekha7 UTSW 7 115,739,898 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCCTCAGCTGGCAAGTATGG -3'
(R):5'- CGTAGTCCCATTTACACTGAGG -3'

Sequencing Primer
(F):5'- GGGACCTGGCCTTGCTC -3'
(R):5'- CTTAAGCCAGGTTCCGACAGTAG -3'
Posted On 2019-10-24