Incidental Mutation 'R4750:Plekha7'
ID 357499
Institutional Source Beutler Lab
Gene Symbol Plekha7
Ensembl Gene ENSMUSG00000045659
Gene Name pleckstrin homology domain containing, family A member 7
Synonyms A430081P20Rik
MMRRC Submission 042031-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R4750 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 115722720-115907611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115736546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 889 (V889E)
Ref Sequence ENSEMBL: ENSMUSP00000138257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182834]
AlphaFold Q3UIL6
Predicted Effect probably damaging
Transcript: ENSMUST00000084664
AA Change: V699E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: V699E

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 possibly damaging
Transcript: ENSMUST00000181981
AA Change: V830E

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: V830E

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 damaging
Transcript: ENSMUST00000181998
AA Change: V935E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: V935E

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 unknown
Transcript: ENSMUST00000182443
AA Change: V853E
Predicted Effect probably damaging
Transcript: ENSMUST00000182487
AA Change: V935E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: V935E

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 damaging
Transcript: ENSMUST00000182511
AA Change: V873E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: V873E

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 probably damaging
Transcript: ENSMUST00000182834
AA Change: V889E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: V889E

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
Meta Mutation Damage Score 0.1406 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 97% (89/92)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,025,945 (GRCm39) L155Q probably damaging Het
Aadac T C 3: 59,943,238 (GRCm39) F48L probably benign Het
Aadat T A 8: 60,979,634 (GRCm39) N165K probably benign Het
Acan C A 7: 78,742,466 (GRCm39) D557E probably damaging Het
Adamts4 T A 1: 171,078,635 (GRCm39) V85D probably benign Het
Agt A G 8: 125,283,676 (GRCm39) V481A probably benign Het
Angpt1 T C 15: 42,539,797 (GRCm39) N21D probably benign Het
Ankrd52 A C 10: 128,213,958 (GRCm39) D38A probably damaging Het
Ap1g2 G T 14: 55,341,822 (GRCm39) Q247K probably damaging Het
Apaf1 T C 10: 90,896,050 (GRCm39) R341G probably damaging Het
Arf2 T C 11: 103,870,585 (GRCm39) probably null Het
Arhgef1 A G 7: 24,618,001 (GRCm39) probably benign Het
Bbln C T 2: 32,269,425 (GRCm39) probably null Het
Bbox1 T A 2: 110,095,866 (GRCm39) Y366F possibly damaging Het
Bmp3 A G 5: 99,020,417 (GRCm39) E280G possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh12 T A 15: 21,583,894 (GRCm39) V578D possibly damaging Het
Cdk19 T C 10: 40,352,195 (GRCm39) S282P probably damaging Het
Cfap46 A G 7: 139,259,239 (GRCm39) probably null Het
Cfhr3 T A 1: 139,512,566 (GRCm39) noncoding transcript Het
Ctrc T A 4: 141,568,834 (GRCm39) Y123F probably benign Het
Dync2i2 T C 2: 29,923,932 (GRCm39) T198A probably benign Het
Enpp4 A G 17: 44,413,246 (GRCm39) M96T probably damaging Het
Exosc10 T A 4: 148,646,851 (GRCm39) S154T possibly damaging Het
Fbxo21 G A 5: 118,138,533 (GRCm39) R486H probably benign Het
Foxj3 C A 4: 119,473,787 (GRCm39) A204E probably damaging Het
Gas6 T G 8: 13,526,227 (GRCm39) D237A probably benign Het
Gimap8 A G 6: 48,627,361 (GRCm39) S112G probably benign Het
Gm4787 T C 12: 81,425,141 (GRCm39) N339S possibly damaging Het
Gm6185 T C 1: 161,009,933 (GRCm39) noncoding transcript Het
Gramd2b A G 18: 56,565,372 (GRCm39) E9G probably benign Het
Hmgxb3 A T 18: 61,300,568 (GRCm39) D169E probably benign Het
Isl2 T A 9: 55,451,596 (GRCm39) V162D probably benign Het
Kcns3 T A 12: 11,141,655 (GRCm39) D348V probably damaging Het
Kcp G A 6: 29,484,625 (GRCm39) P1318S probably benign Het
Kif12 T A 4: 63,086,020 (GRCm39) Q415L probably damaging Het
Lama3 T A 18: 12,637,416 (GRCm39) H45Q probably benign Het
Lonp2 A T 8: 87,358,130 (GRCm39) K117M probably benign Het
Loxl4 T A 19: 42,593,443 (GRCm39) N243Y probably damaging Het
Lrif1 C A 3: 106,642,880 (GRCm39) Q662K probably benign Het
Lrrc37a T A 11: 103,346,306 (GRCm39) I3187L probably benign Het
Lsg1 A G 16: 30,384,267 (GRCm39) I521T probably damaging Het
Mecom T G 3: 30,011,679 (GRCm39) K865Q probably damaging Het
Myh10 T C 11: 68,676,140 (GRCm39) I790T probably damaging Het
Nek7 C T 1: 138,426,411 (GRCm39) S234N probably damaging Het
Nepro T C 16: 44,550,545 (GRCm39) L179P probably damaging Het
Nexn A G 3: 151,943,359 (GRCm39) C649R probably damaging Het
Nsmf T C 2: 24,945,038 (GRCm39) S34P probably damaging Het
Or10x1 A G 1: 174,196,488 (GRCm39) I2V probably benign Het
Or13n4 A G 7: 106,423,514 (GRCm39) F73S probably damaging Het
Or13p5 T A 4: 118,591,930 (GRCm39) V68D possibly damaging Het
Or1n2 T A 2: 36,797,728 (GRCm39) S257T probably benign Het
Or1p1c T A 11: 74,160,246 (GRCm39) F10L probably benign Het
Or2w2 A G 13: 21,757,913 (GRCm39) S238P possibly damaging Het
Or52l1 A T 7: 104,830,133 (GRCm39) I144N probably damaging Het
Or5bw2 A G 7: 6,573,850 (GRCm39) I287V probably benign Het
Or5w16 C T 2: 87,576,852 (GRCm39) T104I probably benign Het
P2rx5 G T 11: 73,055,703 (GRCm39) K53N probably damaging Het
Pcdhb20 C A 18: 37,639,184 (GRCm39) A570E possibly damaging Het
Pip4k2c T C 10: 127,047,286 (GRCm39) H32R unknown Het
Pkhd1 T A 1: 20,594,336 (GRCm39) D1259V possibly damaging Het
Polr2b A C 5: 77,479,886 (GRCm39) E546D possibly damaging Het
Ppm1l A G 3: 69,456,661 (GRCm39) T193A probably damaging Het
Ppp1r37 G T 7: 19,265,445 (GRCm39) D710E probably benign Het
Prdm4 A G 10: 85,735,085 (GRCm39) F679L probably damaging Het
Prkcd A G 14: 30,332,258 (GRCm39) M1T probably null Het
Prss59 A G 6: 40,897,955 (GRCm39) W243R probably damaging Het
Rcor3 A G 1: 191,814,749 (GRCm39) Y77H unknown Het
Rdh5 T C 10: 128,754,235 (GRCm39) E66G possibly damaging Het
Slc12a5 A G 2: 164,824,851 (GRCm39) M396V probably benign Het
Slco5a1 T G 1: 12,949,504 (GRCm39) T629P probably damaging Het
Smarca5 A C 8: 81,460,336 (GRCm39) N133K probably benign Het
Spag5 T C 11: 78,210,878 (GRCm39) M927T probably benign Het
Spint4 A T 2: 164,542,066 (GRCm39) D39V probably damaging Het
Syt6 T A 3: 103,538,233 (GRCm39) *512R probably null Het
Tmem247 T C 17: 87,229,770 (GRCm39) C204R probably damaging Het
Tmem72 A G 6: 116,672,395 (GRCm39) Y149H probably damaging Het
Trpm6 T C 19: 18,853,428 (GRCm39) V1816A probably damaging Het
Usp35 A G 7: 96,959,546 (GRCm39) V1008A possibly damaging Het
Washc4 T C 10: 83,426,916 (GRCm39) S1075P probably damaging Het
Xylb G T 9: 119,188,379 (GRCm39) G62* probably null Het
Zfp142 T C 1: 74,611,617 (GRCm39) E623G probably damaging Het
Zfp239 A G 6: 117,848,700 (GRCm39) Y146C probably damaging 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
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
R7609:Plekha7 UTSW 7 115,763,681 (GRCm39) missense probably benign 0.25
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'- CTGTTAGGTCACTATCGTCACACTG -3'
(R):5'- GTTGGAATGGAGGTAGCTCC -3'

Sequencing Primer
(F):5'- GCCCCTTCCACTCGGTG -3'
(R):5'- AGGTAGCTCCTCGAAGCTTC -3'
Posted On 2015-11-11