Incidental Mutation 'R1256:Ralgapa1'
ID 151466
Institutional Source Beutler Lab
Gene Symbol Ralgapa1
Ensembl Gene ENSMUSG00000021027
Gene Name Ral GTPase activating protein, alpha subunit 1
Synonyms Garnl1, 4930400K19Rik, Tulip1, 2310003F20Rik
MMRRC Submission 039323-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R1256 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 55649681-55867952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55809446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 443 (E443G)
Ref Sequence ENSEMBL: ENSMUSP00000151857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085385] [ENSMUST00000110687] [ENSMUST00000219432] [ENSMUST00000220367] [ENSMUST00000226244]
AlphaFold Q6GYP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000085385
AA Change: E443G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082503
Gene: ENSMUSG00000021027
AA Change: E443G

DomainStartEndE-ValueType
low complexity region 644 651 N/A INTRINSIC
low complexity region 676 690 N/A INTRINSIC
low complexity region 692 704 N/A INTRINSIC
low complexity region 894 915 N/A INTRINSIC
low complexity region 1386 1395 N/A INTRINSIC
low complexity region 1784 1798 N/A INTRINSIC
Pfam:Rap_GAP 1824 2003 7.4e-66 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110687
AA Change: E443G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106315
Gene: ENSMUSG00000021027
AA Change: E443G

DomainStartEndE-ValueType
low complexity region 644 651 N/A INTRINSIC
low complexity region 676 690 N/A INTRINSIC
low complexity region 692 704 N/A INTRINSIC
low complexity region 894 915 N/A INTRINSIC
low complexity region 1386 1395 N/A INTRINSIC
low complexity region 1784 1798 N/A INTRINSIC
Pfam:Rap_GAP 1824 2001 1.9e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000219432
AA Change: E443G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219542
Predicted Effect possibly damaging
Transcript: ENSMUST00000220367
AA Change: E443G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000226244
AA Change: E443G

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Apaf1 A G 10: 90,894,268 (GRCm39) Y456H probably benign Het
Arhgef11 A G 3: 87,634,442 (GRCm39) N791S possibly damaging Het
Brat1 A G 5: 140,695,962 (GRCm39) Q66R possibly damaging Het
Capn10 C T 1: 92,874,668 (GRCm39) T633M probably damaging Het
Ccdc186 G T 19: 56,786,053 (GRCm39) L661I probably benign Het
Cln3 A G 7: 126,182,208 (GRCm39) S4P probably damaging Het
Cnot10 G T 9: 114,439,749 (GRCm39) S520Y probably damaging Het
Csmd1 A T 8: 16,129,978 (GRCm39) F1715I probably damaging Het
Ezh2 A T 6: 47,518,789 (GRCm39) C545* probably null Het
Hivep1 C T 13: 42,335,307 (GRCm39) S2282F probably damaging Het
Jag2 T C 12: 112,878,039 (GRCm39) E564G possibly damaging Het
Kcnj16 A G 11: 110,916,262 (GRCm39) H308R probably damaging Het
Magi3 C T 3: 103,935,126 (GRCm39) V936I probably benign Het
Mcu G T 10: 59,290,790 (GRCm39) A279E probably damaging Het
Msln A G 17: 25,973,157 (GRCm39) C13R probably damaging Het
Nes A G 3: 87,883,883 (GRCm39) D714G probably benign Het
Nif3l1 T A 1: 58,494,808 (GRCm39) V259D probably damaging Het
Or4c127 A T 2: 89,832,911 (GRCm39) M54L possibly damaging Het
Or5k14 A C 16: 58,693,206 (GRCm39) Y102* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb9 A G 18: 37,536,169 (GRCm39) D721G possibly damaging Het
Pepd A C 7: 34,620,917 (GRCm39) T61P possibly damaging Het
Pkd1l2 C T 8: 117,746,282 (GRCm39) probably null Het
Poglut3 A C 9: 53,299,762 (GRCm39) R90S possibly damaging Het
Psip1 A G 4: 83,392,604 (GRCm39) S102P probably benign Het
Rnf20 A G 4: 49,638,230 (GRCm39) D114G probably benign Het
Schip1 A T 3: 68,402,375 (GRCm39) I151F probably benign Het
Smarca2 A G 19: 26,659,373 (GRCm39) I888V probably benign Het
Smg1 T C 7: 117,802,310 (GRCm39) T263A probably damaging Het
Spn T C 7: 126,735,445 (GRCm39) K354R possibly damaging Het
Sspo G A 6: 48,434,573 (GRCm39) A1022T probably damaging Het
Strn A C 17: 78,972,046 (GRCm39) probably null Het
Tstd3 T C 4: 21,759,627 (GRCm39) I79M probably damaging Het
Txnl4a A G 18: 80,250,487 (GRCm39) I28V probably benign Het
Uty T C Y: 1,134,884 (GRCm39) D928G probably damaging Het
Vps26c A G 16: 94,313,225 (GRCm39) L22P probably damaging Het
Vsx2 T A 12: 84,623,085 (GRCm39) L163Q probably damaging Het
Other mutations in Ralgapa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Ralgapa1 APN 12 55,769,558 (GRCm39) missense probably damaging 0.98
IGL00494:Ralgapa1 APN 12 55,793,970 (GRCm39) missense probably damaging 1.00
IGL00731:Ralgapa1 APN 12 55,749,237 (GRCm39) missense possibly damaging 0.94
IGL00851:Ralgapa1 APN 12 55,756,360 (GRCm39) missense possibly damaging 0.93
IGL01133:Ralgapa1 APN 12 55,689,144 (GRCm39) missense probably damaging 0.99
IGL01133:Ralgapa1 APN 12 55,689,133 (GRCm39) missense probably damaging 1.00
IGL01354:Ralgapa1 APN 12 55,824,101 (GRCm39) missense possibly damaging 0.68
IGL01514:Ralgapa1 APN 12 55,766,442 (GRCm39) missense probably damaging 0.97
IGL02033:Ralgapa1 APN 12 55,689,262 (GRCm39) missense possibly damaging 0.69
IGL02064:Ralgapa1 APN 12 55,754,862 (GRCm39) missense probably damaging 1.00
IGL02556:Ralgapa1 APN 12 55,689,234 (GRCm39) missense possibly damaging 0.80
IGL02605:Ralgapa1 APN 12 55,759,450 (GRCm39) missense possibly damaging 0.90
IGL02657:Ralgapa1 APN 12 55,720,292 (GRCm39) missense probably damaging 1.00
IGL02676:Ralgapa1 APN 12 55,723,202 (GRCm39) missense probably damaging 1.00
IGL02894:Ralgapa1 APN 12 55,763,854 (GRCm39) missense possibly damaging 0.79
IGL02944:Ralgapa1 APN 12 55,804,736 (GRCm39) missense probably benign 0.01
Anhydrous UTSW 12 55,842,563 (GRCm39) critical splice acceptor site probably null
Aqueous UTSW 12 55,745,639 (GRCm39) missense probably damaging 1.00
bantam UTSW 12 55,769,558 (GRCm39) critical splice donor site probably null
Deliquescent UTSW 12 55,829,685 (GRCm39) splice site probably benign
wickedwarlock UTSW 12 55,824,077 (GRCm39) missense probably null 0.99
F5770:Ralgapa1 UTSW 12 55,842,438 (GRCm39) splice site probably benign
IGL03046:Ralgapa1 UTSW 12 55,741,942 (GRCm39) missense probably damaging 1.00
R0011:Ralgapa1 UTSW 12 55,833,048 (GRCm39) missense probably damaging 0.99
R0096:Ralgapa1 UTSW 12 55,786,290 (GRCm39) missense probably damaging 1.00
R0277:Ralgapa1 UTSW 12 55,724,023 (GRCm39) missense probably damaging 0.99
R0323:Ralgapa1 UTSW 12 55,724,023 (GRCm39) missense probably damaging 0.99
R0333:Ralgapa1 UTSW 12 55,829,685 (GRCm39) splice site probably benign
R0361:Ralgapa1 UTSW 12 55,723,354 (GRCm39) missense possibly damaging 0.93
R0385:Ralgapa1 UTSW 12 55,723,823 (GRCm39) missense probably damaging 1.00
R0386:Ralgapa1 UTSW 12 55,754,852 (GRCm39) missense probably benign 0.03
R0498:Ralgapa1 UTSW 12 55,736,576 (GRCm39) missense possibly damaging 0.66
R0552:Ralgapa1 UTSW 12 55,723,550 (GRCm39) missense probably benign 0.27
R0564:Ralgapa1 UTSW 12 55,829,670 (GRCm39) missense possibly damaging 0.84
R0611:Ralgapa1 UTSW 12 55,842,483 (GRCm39) missense probably damaging 0.99
R0730:Ralgapa1 UTSW 12 55,712,448 (GRCm39) missense probably damaging 1.00
R0741:Ralgapa1 UTSW 12 55,723,366 (GRCm39) missense probably damaging 0.99
R0815:Ralgapa1 UTSW 12 55,829,562 (GRCm39) splice site probably benign
R0815:Ralgapa1 UTSW 12 55,809,466 (GRCm39) nonsense probably null
R0863:Ralgapa1 UTSW 12 55,829,562 (GRCm39) splice site probably benign
R0863:Ralgapa1 UTSW 12 55,809,466 (GRCm39) nonsense probably null
R1068:Ralgapa1 UTSW 12 55,837,095 (GRCm39) critical splice donor site probably null
R1147:Ralgapa1 UTSW 12 55,749,265 (GRCm39) missense probably damaging 1.00
R1147:Ralgapa1 UTSW 12 55,749,265 (GRCm39) missense probably damaging 1.00
R1343:Ralgapa1 UTSW 12 55,754,763 (GRCm39) missense probably damaging 1.00
R1378:Ralgapa1 UTSW 12 55,723,711 (GRCm39) missense probably damaging 1.00
R1474:Ralgapa1 UTSW 12 55,788,265 (GRCm39) missense probably benign 0.09
R1494:Ralgapa1 UTSW 12 55,731,309 (GRCm39) missense probably damaging 0.99
R1593:Ralgapa1 UTSW 12 55,817,488 (GRCm39) missense probably damaging 1.00
R1607:Ralgapa1 UTSW 12 55,788,321 (GRCm39) missense probably damaging 1.00
R1681:Ralgapa1 UTSW 12 55,809,388 (GRCm39) missense probably benign 0.35
R1689:Ralgapa1 UTSW 12 55,723,552 (GRCm39) missense possibly damaging 0.79
R1714:Ralgapa1 UTSW 12 55,689,174 (GRCm39) missense probably damaging 1.00
R1832:Ralgapa1 UTSW 12 55,804,752 (GRCm39) missense probably benign 0.03
R1870:Ralgapa1 UTSW 12 55,723,817 (GRCm39) missense possibly damaging 0.66
R2040:Ralgapa1 UTSW 12 55,833,107 (GRCm39) missense probably damaging 1.00
R2043:Ralgapa1 UTSW 12 55,723,811 (GRCm39) missense probably damaging 0.99
R2046:Ralgapa1 UTSW 12 55,741,945 (GRCm39) missense probably damaging 1.00
R2109:Ralgapa1 UTSW 12 55,822,973 (GRCm39) missense possibly damaging 0.90
R2114:Ralgapa1 UTSW 12 55,833,134 (GRCm39) critical splice acceptor site probably null
R2115:Ralgapa1 UTSW 12 55,833,134 (GRCm39) critical splice acceptor site probably null
R2202:Ralgapa1 UTSW 12 55,659,585 (GRCm39) splice site probably null
R2203:Ralgapa1 UTSW 12 55,659,585 (GRCm39) splice site probably null
R2233:Ralgapa1 UTSW 12 55,763,856 (GRCm39) missense probably benign 0.13
R2235:Ralgapa1 UTSW 12 55,763,856 (GRCm39) missense probably benign 0.13
R2341:Ralgapa1 UTSW 12 55,723,909 (GRCm39) missense possibly damaging 0.66
R2507:Ralgapa1 UTSW 12 55,764,986 (GRCm39) missense probably damaging 1.00
R2508:Ralgapa1 UTSW 12 55,764,986 (GRCm39) missense probably damaging 1.00
R2972:Ralgapa1 UTSW 12 55,867,540 (GRCm39) missense possibly damaging 0.61
R3160:Ralgapa1 UTSW 12 55,756,371 (GRCm39) missense probably damaging 1.00
R3162:Ralgapa1 UTSW 12 55,756,371 (GRCm39) missense probably damaging 1.00
R3401:Ralgapa1 UTSW 12 55,705,922 (GRCm39) missense possibly damaging 0.66
R3416:Ralgapa1 UTSW 12 55,817,398 (GRCm39) splice site probably benign
R3499:Ralgapa1 UTSW 12 55,741,928 (GRCm39) splice site probably benign
R3799:Ralgapa1 UTSW 12 55,705,915 (GRCm39) missense probably damaging 1.00
R3948:Ralgapa1 UTSW 12 55,745,552 (GRCm39) missense probably damaging 1.00
R4039:Ralgapa1 UTSW 12 55,842,486 (GRCm39) missense probably damaging 0.99
R4120:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4165:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4166:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4212:Ralgapa1 UTSW 12 55,786,115 (GRCm39) critical splice donor site probably null
R4232:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4233:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4234:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4235:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4399:Ralgapa1 UTSW 12 55,842,563 (GRCm39) critical splice acceptor site probably null
R4698:Ralgapa1 UTSW 12 55,724,061 (GRCm39) splice site probably null
R4715:Ralgapa1 UTSW 12 55,740,243 (GRCm39) missense probably damaging 1.00
R4755:Ralgapa1 UTSW 12 55,759,533 (GRCm39) missense probably damaging 1.00
R4810:Ralgapa1 UTSW 12 55,841,778 (GRCm39) critical splice donor site probably null
R4827:Ralgapa1 UTSW 12 55,723,222 (GRCm39) missense probably damaging 1.00
R4849:Ralgapa1 UTSW 12 55,745,588 (GRCm39) missense probably damaging 0.99
R4934:Ralgapa1 UTSW 12 55,809,359 (GRCm39) missense possibly damaging 0.94
R5006:Ralgapa1 UTSW 12 55,764,899 (GRCm39) missense probably benign 0.02
R5114:Ralgapa1 UTSW 12 55,659,508 (GRCm39) missense possibly damaging 0.84
R5140:Ralgapa1 UTSW 12 55,712,459 (GRCm39) missense probably damaging 1.00
R5140:Ralgapa1 UTSW 12 55,822,937 (GRCm39) missense probably damaging 1.00
R5168:Ralgapa1 UTSW 12 55,804,817 (GRCm39) missense probably benign 0.05
R5407:Ralgapa1 UTSW 12 55,723,582 (GRCm39) missense possibly damaging 0.93
R5441:Ralgapa1 UTSW 12 55,766,408 (GRCm39) missense probably damaging 1.00
R5473:Ralgapa1 UTSW 12 55,723,495 (GRCm39) missense probably benign 0.41
R5624:Ralgapa1 UTSW 12 55,659,523 (GRCm39) missense probably damaging 1.00
R5766:Ralgapa1 UTSW 12 55,867,551 (GRCm39) start codon destroyed probably null 0.99
R5826:Ralgapa1 UTSW 12 55,723,898 (GRCm39) missense probably damaging 1.00
R5950:Ralgapa1 UTSW 12 55,785,050 (GRCm39) missense possibly damaging 0.58
R5980:Ralgapa1 UTSW 12 55,817,401 (GRCm39) splice site probably null
R6019:Ralgapa1 UTSW 12 55,730,827 (GRCm39) missense possibly damaging 0.92
R6065:Ralgapa1 UTSW 12 55,804,709 (GRCm39) critical splice donor site probably null
R6326:Ralgapa1 UTSW 12 55,793,931 (GRCm39) missense probably damaging 1.00
R6355:Ralgapa1 UTSW 12 55,745,639 (GRCm39) missense probably damaging 1.00
R6408:Ralgapa1 UTSW 12 55,730,695 (GRCm39) nonsense probably null
R6448:Ralgapa1 UTSW 12 55,766,446 (GRCm39) missense probably benign 0.14
R6453:Ralgapa1 UTSW 12 55,785,104 (GRCm39) missense probably damaging 1.00
R6590:Ralgapa1 UTSW 12 55,769,558 (GRCm39) critical splice donor site probably null
R6690:Ralgapa1 UTSW 12 55,769,558 (GRCm39) critical splice donor site probably null
R6738:Ralgapa1 UTSW 12 55,809,512 (GRCm39) missense probably damaging 1.00
R6836:Ralgapa1 UTSW 12 55,651,058 (GRCm39) splice site probably null
R6936:Ralgapa1 UTSW 12 55,832,997 (GRCm39) missense probably damaging 0.99
R6945:Ralgapa1 UTSW 12 55,822,976 (GRCm39) missense possibly damaging 0.64
R7028:Ralgapa1 UTSW 12 55,804,844 (GRCm39) missense probably damaging 1.00
R7075:Ralgapa1 UTSW 12 55,867,508 (GRCm39) missense possibly damaging 0.66
R7076:Ralgapa1 UTSW 12 55,768,361 (GRCm39) missense possibly damaging 0.82
R7098:Ralgapa1 UTSW 12 55,837,095 (GRCm39) critical splice donor site probably null
R7231:Ralgapa1 UTSW 12 55,650,976 (GRCm39) missense probably damaging 1.00
R7254:Ralgapa1 UTSW 12 55,741,978 (GRCm39) missense probably damaging 1.00
R7326:Ralgapa1 UTSW 12 55,755,789 (GRCm39) missense probably damaging 1.00
R7485:Ralgapa1 UTSW 12 55,759,457 (GRCm39) missense probably damaging 1.00
R7580:Ralgapa1 UTSW 12 55,765,013 (GRCm39) missense probably benign 0.00
R7677:Ralgapa1 UTSW 12 55,705,928 (GRCm39) missense probably damaging 0.96
R7702:Ralgapa1 UTSW 12 55,756,341 (GRCm39) missense probably damaging 1.00
R7702:Ralgapa1 UTSW 12 55,756,340 (GRCm39) missense probably damaging 1.00
R7707:Ralgapa1 UTSW 12 55,824,077 (GRCm39) missense probably null 0.99
R7723:Ralgapa1 UTSW 12 55,788,298 (GRCm39) missense probably benign
R7763:Ralgapa1 UTSW 12 55,804,740 (GRCm39) missense probably benign 0.28
R7791:Ralgapa1 UTSW 12 55,788,304 (GRCm39) missense probably damaging 0.97
R7812:Ralgapa1 UTSW 12 55,766,413 (GRCm39) missense possibly damaging 0.67
R7868:Ralgapa1 UTSW 12 55,659,423 (GRCm39) missense probably benign 0.00
R7895:Ralgapa1 UTSW 12 55,793,934 (GRCm39) missense probably benign 0.44
R7896:Ralgapa1 UTSW 12 55,744,663 (GRCm39) missense probably benign 0.01
R8004:Ralgapa1 UTSW 12 55,749,242 (GRCm39) missense probably damaging 0.99
R8094:Ralgapa1 UTSW 12 55,829,631 (GRCm39) missense probably damaging 0.99
R8213:Ralgapa1 UTSW 12 55,769,699 (GRCm39) missense probably damaging 0.99
R8307:Ralgapa1 UTSW 12 55,788,308 (GRCm39) missense probably damaging 0.99
R8423:Ralgapa1 UTSW 12 55,705,847 (GRCm39) missense probably damaging 0.99
R8462:Ralgapa1 UTSW 12 55,723,303 (GRCm39) missense possibly damaging 0.90
R8469:Ralgapa1 UTSW 12 55,786,198 (GRCm39) missense probably damaging 1.00
R8675:Ralgapa1 UTSW 12 55,785,002 (GRCm39) missense possibly damaging 0.93
R8802:Ralgapa1 UTSW 12 55,785,101 (GRCm39) missense probably damaging 0.99
R8937:Ralgapa1 UTSW 12 55,749,345 (GRCm39) missense probably damaging 0.96
R8953:Ralgapa1 UTSW 12 55,867,546 (GRCm39) missense probably damaging 0.99
R8974:Ralgapa1 UTSW 12 55,723,791 (GRCm39) missense probably benign
R9011:Ralgapa1 UTSW 12 55,652,314 (GRCm39) intron probably benign
R9089:Ralgapa1 UTSW 12 55,723,351 (GRCm39) missense probably damaging 0.97
R9124:Ralgapa1 UTSW 12 55,781,881 (GRCm39) missense probably damaging 1.00
R9254:Ralgapa1 UTSW 12 55,769,583 (GRCm39) missense probably damaging 1.00
R9320:Ralgapa1 UTSW 12 55,755,843 (GRCm39) missense possibly damaging 0.59
R9379:Ralgapa1 UTSW 12 55,769,583 (GRCm39) missense probably damaging 1.00
R9446:Ralgapa1 UTSW 12 55,754,808 (GRCm39) missense probably damaging 0.97
R9684:Ralgapa1 UTSW 12 55,659,485 (GRCm39) missense possibly damaging 0.63
Z1176:Ralgapa1 UTSW 12 55,755,865 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTGAGAAAAGGTTACGATGCCC -3'
(R):5'- AAACAAATCTCTGCTCCTCCTTCTTCAG -3'

Sequencing Primer
(F):5'- aaaataaaaATGTGACATCACAGAGC -3'
(R):5'- CCAATTTGTGAAGCAGCAGCTAT -3'
Posted On 2014-01-29