Incidental Mutation 'R8781:Gapvd1'
ID 670236
Institutional Source Beutler Lab
Gene Symbol Gapvd1
Ensembl Gene ENSMUSG00000026867
Gene Name GTPase activating protein and VPS9 domains 1
Synonyms 2010005B09Rik, 4432404J10Rik
MMRRC Submission 068605-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8781 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 34566190-34645297 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34610698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 495 (H495L)
Ref Sequence ENSEMBL: ENSMUSP00000099864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028224] [ENSMUST00000102800] [ENSMUST00000113099]
AlphaFold Q6PAR5
Predicted Effect probably benign
Transcript: ENSMUST00000028224
AA Change: H495L

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028224
Gene: ENSMUSG00000026867
AA Change: H495L

DomainStartEndE-ValueType
Pfam:RasGAP 152 353 2.3e-36 PFAM
internal_repeat_1 626 655 3.27e-5 PROSPERO
low complexity region 664 678 N/A INTRINSIC
internal_repeat_1 686 717 3.27e-5 PROSPERO
low complexity region 875 890 N/A INTRINSIC
low complexity region 909 920 N/A INTRINSIC
low complexity region 923 933 N/A INTRINSIC
low complexity region 936 952 N/A INTRINSIC
low complexity region 972 982 N/A INTRINSIC
VPS9 1332 1437 1.08e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102800
AA Change: H495L

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099864
Gene: ENSMUSG00000026867
AA Change: H495L

DomainStartEndE-ValueType
Pfam:RasGAP 152 353 2.3e-36 PFAM
internal_repeat_1 626 655 3.27e-5 PROSPERO
low complexity region 664 678 N/A INTRINSIC
internal_repeat_1 686 717 3.27e-5 PROSPERO
low complexity region 875 890 N/A INTRINSIC
low complexity region 909 920 N/A INTRINSIC
low complexity region 923 933 N/A INTRINSIC
low complexity region 936 952 N/A INTRINSIC
low complexity region 972 982 N/A INTRINSIC
VPS9 1332 1437 1.08e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113099
AA Change: H495L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
AA Change: H495L

DomainStartEndE-ValueType
Pfam:RasGAP 152 353 2.8e-37 PFAM
internal_repeat_1 647 676 3.6e-5 PROSPERO
low complexity region 685 699 N/A INTRINSIC
internal_repeat_1 707 738 3.6e-5 PROSPERO
low complexity region 896 911 N/A INTRINSIC
low complexity region 930 941 N/A INTRINSIC
low complexity region 944 954 N/A INTRINSIC
low complexity region 957 973 N/A INTRINSIC
low complexity region 993 1003 N/A INTRINSIC
VPS9 1353 1458 1.08e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113103
AA Change: H352L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108727
Gene: ENSMUSG00000026867
AA Change: H352L

DomainStartEndE-ValueType
Pfam:RasGAP 1 184 4.9e-32 PFAM
internal_repeat_1 484 513 1.18e-5 PROSPERO
low complexity region 522 536 N/A INTRINSIC
internal_repeat_1 544 575 1.18e-5 PROSPERO
low complexity region 733 748 N/A INTRINSIC
low complexity region 767 778 N/A INTRINSIC
low complexity region 781 791 N/A INTRINSIC
low complexity region 794 810 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113111
SMART Domains Protein: ENSMUSP00000108735
Gene: ENSMUSG00000026867

DomainStartEndE-ValueType
internal_repeat_1 85 114 3.65e-6 PROSPERO
low complexity region 123 137 N/A INTRINSIC
internal_repeat_1 145 176 3.65e-6 PROSPERO
low complexity region 334 349 N/A INTRINSIC
low complexity region 368 379 N/A INTRINSIC
low complexity region 382 392 N/A INTRINSIC
low complexity region 395 411 N/A INTRINSIC
low complexity region 431 441 N/A INTRINSIC
VPS9 791 896 1.08e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137528
AA Change: H357L

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120138
Gene: ENSMUSG00000026867
AA Change: H357L

DomainStartEndE-ValueType
Pfam:RasGAP 15 216 1.2e-37 PFAM
internal_repeat_1 510 539 1.19e-5 PROSPERO
low complexity region 548 562 N/A INTRINSIC
internal_repeat_1 570 601 1.19e-5 PROSPERO
low complexity region 733 748 N/A INTRINSIC
low complexity region 767 778 N/A INTRINSIC
low complexity region 781 791 N/A INTRINSIC
low complexity region 794 810 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik A G 19: 3,767,538 (GRCm39) D375G possibly damaging Het
Abi3bp C T 16: 56,426,512 (GRCm39) T509I probably damaging Het
Atp13a2 T A 4: 140,723,691 (GRCm39) C257S probably benign Het
Ccdc183 T A 2: 25,502,208 (GRCm39) probably benign Het
Cd109 C T 9: 78,543,929 (GRCm39) P158S probably damaging Het
Cdh23 C T 10: 60,167,567 (GRCm39) E1810K probably damaging Het
Cog5 T A 12: 31,883,249 (GRCm39) W393R probably damaging Het
Cyth1 C T 11: 118,073,069 (GRCm39) R277Q probably damaging Het
Ddx54 G T 5: 120,751,217 (GRCm39) R6L probably benign Het
Dnah8 T A 17: 30,944,078 (GRCm39) I1765N probably damaging Het
Erp27 G A 6: 136,886,458 (GRCm39) Q192* probably null Het
Fam81a T A 9: 70,032,381 (GRCm39) H37L probably damaging Het
Fbn2 A G 18: 58,194,719 (GRCm39) S1481P possibly damaging Het
Fbp1 T G 13: 63,016,831 (GRCm39) I224L probably benign Het
Fhit A G 14: 10,421,503 (GRCm38) V32A probably damaging Het
Gas2l3 T C 10: 89,266,841 (GRCm39) D33G probably damaging Het
Heatr5b A T 17: 79,102,738 (GRCm39) D1213E probably benign Het
Hsf2bp C G 17: 32,252,241 (GRCm39) E65Q possibly damaging Het
Kif28 G T 1: 179,525,481 (GRCm39) T937K probably benign Het
Klf6 T A 13: 5,915,071 (GRCm39) V170D probably benign Het
Kri1 A T 9: 21,191,748 (GRCm39) S283T Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Lct A G 1: 128,215,261 (GRCm39) Y1772H probably damaging Het
Lrrc37 T A 11: 103,508,958 (GRCm39) E1003D unknown Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Or2b2b A G 13: 21,859,013 (GRCm39) S34P probably damaging Het
Or52j3 T A 7: 102,836,082 (GRCm39) D91E probably benign Het
Or8c14-ps1 T G 9: 38,101,385 (GRCm39) D121E probably damaging Het
Parg T A 14: 31,936,400 (GRCm39) D518E probably benign Het
Pcx G A 19: 4,670,980 (GRCm39) A1095T probably damaging Het
Pde1b G A 15: 103,433,727 (GRCm39) V342M probably damaging Het
Pik3r2 C T 8: 71,222,046 (GRCm39) G579D possibly damaging Het
Pknox1 G A 17: 31,821,837 (GRCm39) probably benign Het
Pla2g3 C A 11: 3,438,530 (GRCm39) T60K probably benign Het
Ppfia3 C T 7: 44,997,953 (GRCm39) E725K possibly damaging Het
Ppl C T 16: 4,915,800 (GRCm39) V588I possibly damaging Het
Sardh T A 2: 27,086,715 (GRCm39) E815V possibly damaging Het
Scn7a T C 2: 66,567,775 (GRCm39) E273G probably benign Het
Slc7a8 A T 14: 54,996,996 (GRCm39) probably benign Het
Smg8 G A 11: 86,971,147 (GRCm39) P875S possibly damaging Het
Sncaip T C 18: 53,039,614 (GRCm39) S603P probably benign Het
Speg G A 1: 75,383,665 (GRCm39) G1218S probably damaging Het
Stk31 A T 6: 49,383,709 (GRCm39) D92V probably damaging Het
Suco A G 1: 161,645,951 (GRCm39) V1250A probably damaging Het
Tas2r138 A G 6: 40,589,850 (GRCm39) V132A probably benign Het
Tcp1 T C 17: 13,143,263 (GRCm39) I524T probably damaging Het
Tenm3 CTGCTGTGAAATG C 8: 48,795,484 (GRCm39) probably null Het
Tln2 C A 9: 67,163,233 (GRCm39) V1105L probably damaging Het
Tmem19 T C 10: 115,195,563 (GRCm39) probably benign Het
Tmprss4 T C 9: 45,087,740 (GRCm39) Y283C possibly damaging Het
Trim29 T A 9: 43,222,615 (GRCm39) V148D probably benign Het
Trip10 C T 17: 57,562,313 (GRCm39) A277V probably benign Het
Usp12 C A 5: 146,700,172 (GRCm39) R61L probably benign Het
Vmn1r58 T G 7: 5,413,482 (GRCm39) L249F probably benign Het
Vmn2r31 C T 7: 7,387,400 (GRCm39) V724I possibly damaging Het
Vmn2r66 C T 7: 84,644,355 (GRCm39) W685* probably null Het
Vmn2r8 A G 5: 108,945,597 (GRCm39) I670T possibly damaging Het
Vmn2r91 T A 17: 18,305,323 (GRCm39) M2K possibly damaging Het
Wdr12 A G 1: 60,126,300 (GRCm39) W172R probably damaging Het
Yipf5 A T 18: 40,340,752 (GRCm39) V200E possibly damaging Het
Zfp608 T C 18: 55,031,801 (GRCm39) K713R probably damaging Het
Zfp768 A G 7: 126,942,476 (GRCm39) S554P probably damaging Het
Other mutations in Gapvd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Gapvd1 APN 2 34,589,872 (GRCm39) missense probably benign 0.00
IGL00985:Gapvd1 APN 2 34,585,575 (GRCm39) missense probably damaging 0.99
IGL01133:Gapvd1 APN 2 34,615,410 (GRCm39) missense probably damaging 0.98
IGL01347:Gapvd1 APN 2 34,596,708 (GRCm39) critical splice donor site probably null
IGL01830:Gapvd1 APN 2 34,578,968 (GRCm39) missense probably benign 0.44
IGL01865:Gapvd1 APN 2 34,585,515 (GRCm39) missense probably null
IGL02009:Gapvd1 APN 2 34,594,203 (GRCm39) missense probably damaging 1.00
IGL02014:Gapvd1 APN 2 34,594,203 (GRCm39) missense probably damaging 1.00
IGL02189:Gapvd1 APN 2 34,618,556 (GRCm39) missense probably damaging 1.00
IGL02418:Gapvd1 APN 2 34,620,530 (GRCm39) missense probably benign 0.00
IGL02632:Gapvd1 APN 2 34,574,186 (GRCm39) splice site probably benign
IGL02636:Gapvd1 APN 2 34,615,416 (GRCm39) missense probably benign 0.01
IGL02643:Gapvd1 APN 2 34,594,192 (GRCm39) missense probably damaging 1.00
IGL03271:Gapvd1 APN 2 34,617,219 (GRCm39) unclassified probably benign
P0023:Gapvd1 UTSW 2 34,596,700 (GRCm39) splice site probably benign
R0016:Gapvd1 UTSW 2 34,589,925 (GRCm39) splice site probably benign
R0016:Gapvd1 UTSW 2 34,589,925 (GRCm39) splice site probably benign
R0029:Gapvd1 UTSW 2 34,568,153 (GRCm39) missense probably damaging 1.00
R0029:Gapvd1 UTSW 2 34,568,153 (GRCm39) missense probably damaging 1.00
R0282:Gapvd1 UTSW 2 34,578,972 (GRCm39) nonsense probably null
R0414:Gapvd1 UTSW 2 34,583,439 (GRCm39) missense probably benign 0.14
R0443:Gapvd1 UTSW 2 34,594,633 (GRCm39) intron probably benign
R0542:Gapvd1 UTSW 2 34,615,048 (GRCm39) unclassified probably benign
R0570:Gapvd1 UTSW 2 34,618,552 (GRCm39) missense probably damaging 1.00
R0840:Gapvd1 UTSW 2 34,619,125 (GRCm39) missense probably benign 0.29
R0866:Gapvd1 UTSW 2 34,599,229 (GRCm39) missense probably damaging 1.00
R0890:Gapvd1 UTSW 2 34,602,329 (GRCm39) missense probably damaging 1.00
R0926:Gapvd1 UTSW 2 34,602,337 (GRCm39) missense probably damaging 1.00
R0970:Gapvd1 UTSW 2 34,620,625 (GRCm39) splice site probably null
R1168:Gapvd1 UTSW 2 34,594,481 (GRCm39) missense probably damaging 1.00
R1391:Gapvd1 UTSW 2 34,596,814 (GRCm39) missense probably damaging 1.00
R1577:Gapvd1 UTSW 2 34,599,240 (GRCm39) missense probably damaging 1.00
R1585:Gapvd1 UTSW 2 34,602,207 (GRCm39) missense possibly damaging 0.93
R1669:Gapvd1 UTSW 2 34,620,694 (GRCm39) critical splice acceptor site probably null
R1677:Gapvd1 UTSW 2 34,590,773 (GRCm39) critical splice donor site probably null
R1812:Gapvd1 UTSW 2 34,615,076 (GRCm39) nonsense probably null
R1874:Gapvd1 UTSW 2 34,596,033 (GRCm39) missense probably damaging 1.00
R1878:Gapvd1 UTSW 2 34,615,212 (GRCm39) missense probably benign 0.00
R1974:Gapvd1 UTSW 2 34,590,853 (GRCm39) missense probably damaging 0.99
R2111:Gapvd1 UTSW 2 34,574,329 (GRCm39) missense probably benign 0.08
R2921:Gapvd1 UTSW 2 34,578,875 (GRCm39) missense probably damaging 0.97
R2923:Gapvd1 UTSW 2 34,578,875 (GRCm39) missense probably damaging 0.97
R3846:Gapvd1 UTSW 2 34,619,084 (GRCm39) nonsense probably null
R3894:Gapvd1 UTSW 2 34,618,488 (GRCm39) missense probably benign 0.23
R4405:Gapvd1 UTSW 2 34,618,747 (GRCm39) missense probably damaging 1.00
R4605:Gapvd1 UTSW 2 34,618,549 (GRCm39) missense probably damaging 1.00
R4770:Gapvd1 UTSW 2 34,581,193 (GRCm39) missense probably damaging 0.98
R4935:Gapvd1 UTSW 2 34,594,504 (GRCm39) nonsense probably null
R5218:Gapvd1 UTSW 2 34,618,488 (GRCm39) missense probably benign 0.23
R5490:Gapvd1 UTSW 2 34,583,445 (GRCm39) missense probably benign 0.23
R5571:Gapvd1 UTSW 2 34,605,265 (GRCm39) missense probably damaging 1.00
R5588:Gapvd1 UTSW 2 34,599,166 (GRCm39) missense probably damaging 1.00
R5933:Gapvd1 UTSW 2 34,574,303 (GRCm39) missense probably benign 0.27
R6117:Gapvd1 UTSW 2 34,580,471 (GRCm39) splice site probably null
R6661:Gapvd1 UTSW 2 34,618,450 (GRCm39) missense probably damaging 1.00
R6857:Gapvd1 UTSW 2 34,618,389 (GRCm39) missense probably damaging 1.00
R6950:Gapvd1 UTSW 2 34,574,257 (GRCm39) missense probably benign 0.04
R7009:Gapvd1 UTSW 2 34,590,829 (GRCm39) missense probably damaging 1.00
R7125:Gapvd1 UTSW 2 34,585,612 (GRCm39) missense probably benign
R7154:Gapvd1 UTSW 2 34,615,075 (GRCm39) missense probably damaging 1.00
R7316:Gapvd1 UTSW 2 34,594,681 (GRCm39) missense probably damaging 1.00
R7358:Gapvd1 UTSW 2 34,580,473 (GRCm39) critical splice donor site probably null
R7363:Gapvd1 UTSW 2 34,602,207 (GRCm39) missense probably benign 0.01
R7371:Gapvd1 UTSW 2 34,607,385 (GRCm39) missense probably benign
R7418:Gapvd1 UTSW 2 34,615,130 (GRCm39) missense probably benign 0.12
R7690:Gapvd1 UTSW 2 34,619,134 (GRCm39) missense possibly damaging 0.68
R7740:Gapvd1 UTSW 2 34,590,834 (GRCm39) missense probably damaging 1.00
R7742:Gapvd1 UTSW 2 34,568,635 (GRCm39) missense probably damaging 1.00
R7857:Gapvd1 UTSW 2 34,619,079 (GRCm39) missense probably benign 0.06
R8062:Gapvd1 UTSW 2 34,568,126 (GRCm39) missense probably benign 0.37
R8113:Gapvd1 UTSW 2 34,594,330 (GRCm39) missense probably damaging 0.98
R8303:Gapvd1 UTSW 2 34,602,212 (GRCm39) missense probably damaging 1.00
R8558:Gapvd1 UTSW 2 34,594,493 (GRCm39) missense probably damaging 1.00
R8751:Gapvd1 UTSW 2 34,568,078 (GRCm39) missense probably damaging 0.96
R8794:Gapvd1 UTSW 2 34,594,330 (GRCm39) missense possibly damaging 0.49
R8876:Gapvd1 UTSW 2 34,568,560 (GRCm39) missense possibly damaging 0.95
R8942:Gapvd1 UTSW 2 34,619,134 (GRCm39) missense probably benign 0.06
R8954:Gapvd1 UTSW 2 34,568,110 (GRCm39) missense probably damaging 1.00
R9066:Gapvd1 UTSW 2 34,617,297 (GRCm39) missense probably damaging 1.00
R9428:Gapvd1 UTSW 2 34,607,318 (GRCm39) missense probably damaging 1.00
R9470:Gapvd1 UTSW 2 34,602,280 (GRCm39) missense possibly damaging 0.78
R9505:Gapvd1 UTSW 2 34,613,026 (GRCm39) missense
R9690:Gapvd1 UTSW 2 34,618,492 (GRCm39) missense probably damaging 1.00
Z1177:Gapvd1 UTSW 2 34,589,876 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- CAGTGATAGGTGCAAGTTAAATGC -3'
(R):5'- TATTGTCATCAGGAGAATGACTAGG -3'

Sequencing Primer
(F):5'- TACCTGTGAGTTCAAGGCCAGTC -3'
(R):5'- TGTTCAGCACAAACAGAAAA -3'
Posted On 2021-04-30