Incidental Mutation 'PIT4458001:Ralgds'
ID 555897
Institutional Source Beutler Lab
Gene Symbol Ralgds
Ensembl Gene ENSMUSG00000026821
Gene Name ral guanine nucleotide dissociation stimulator
Synonyms RalGDS, Rgds, Gnds
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # PIT4458001 (G1)
Quality Score 135.008
Status Not validated
Chromosome 2
Chromosomal Location 28403137-28443093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28432486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 160 (L160P)
Ref Sequence ENSEMBL: ENSMUSP00000097812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028170] [ENSMUST00000100241] [ENSMUST00000113893] [ENSMUST00000135803]
AlphaFold Q03385
Predicted Effect probably damaging
Transcript: ENSMUST00000028170
AA Change: L105P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: L105P

DomainStartEndE-ValueType
RasGEFN 56 194 4.02e-37 SMART
low complexity region 239 285 N/A INTRINSIC
RasGEF 320 587 5.28e-118 SMART
low complexity region 613 626 N/A INTRINSIC
low complexity region 646 655 N/A INTRINSIC
low complexity region 683 712 N/A INTRINSIC
low complexity region 716 726 N/A INTRINSIC
RA 736 823 6.51e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100241
AA Change: L160P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: L160P

DomainStartEndE-ValueType
RasGEFN 111 249 4.02e-37 SMART
low complexity region 294 340 N/A INTRINSIC
RasGEF 375 642 5.28e-118 SMART
low complexity region 668 681 N/A INTRINSIC
low complexity region 701 710 N/A INTRINSIC
low complexity region 738 767 N/A INTRINSIC
low complexity region 771 781 N/A INTRINSIC
RA 791 878 6.51e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113893
AA Change: L160P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: L160P

DomainStartEndE-ValueType
RasGEFN 111 237 1.25e-42 SMART
low complexity region 282 328 N/A INTRINSIC
RasGEF 363 630 5.28e-118 SMART
low complexity region 656 669 N/A INTRINSIC
low complexity region 689 698 N/A INTRINSIC
low complexity region 726 755 N/A INTRINSIC
low complexity region 759 769 N/A INTRINSIC
RA 779 866 6.51e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135803
AA Change: L105P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115092
Gene: ENSMUSG00000026821
AA Change: L105P

DomainStartEndE-ValueType
RasGEFN 56 127 2.47e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000137215
AA Change: L47P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116215
Gene: ENSMUSG00000026821
AA Change: L47P

DomainStartEndE-ValueType
RasGEFN 1 107 5.55e-8 SMART
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 73.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous mutant mice exhibit reduced tumor incidence, size and progression to malignancy in multistage skin carcinogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(16) : Targeted(5) Gene trapped(11)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,248,304 (GRCm39) V2684L probably benign Het
Adamts9 T A 6: 92,866,886 (GRCm39) I718F probably damaging Het
Adcyap1r1 A G 6: 55,455,067 (GRCm39) D110G probably benign Het
Adgrd1 G A 5: 129,208,641 (GRCm39) G281D probably damaging Het
Afg1l A T 10: 42,330,366 (GRCm39) C100* probably null Het
Atp2a2 G A 5: 122,595,372 (GRCm39) Q993* probably null Het
Baz1a A G 12: 54,977,095 (GRCm39) M389T probably benign Het
Btnl4 T A 17: 34,693,242 (GRCm39) M58L probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cpeb1 A T 7: 80,998,180 (GRCm39) F533Y probably damaging Het
Ctnna1 T A 18: 35,308,179 (GRCm39) N166K possibly damaging Het
Ecsit T C 9: 21,987,580 (GRCm39) H153R probably damaging Het
Gbp8 T C 5: 105,162,955 (GRCm39) K480E probably benign Het
Glyat A T 19: 12,625,373 (GRCm39) T66S probably benign Het
Gm1110 T C 9: 26,792,124 (GRCm39) Q632R probably benign Het
Gm12185 C T 11: 48,798,738 (GRCm39) R585Q probably damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gm7489 A C 15: 53,749,195 (GRCm39) E89A unknown Het
Grb7 C T 11: 98,344,655 (GRCm39) Q353* probably null Het
Ifi207 G A 1: 173,562,738 (GRCm39) T136I unknown Het
Ighv3-1 T C 12: 113,928,224 (GRCm39) Y45C probably benign Het
Ing5 A G 1: 93,739,668 (GRCm39) M92V possibly damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Lmo7 C T 14: 102,124,923 (GRCm39) Q583* probably null Het
Lrrc37a T C 11: 103,395,338 (GRCm39) D29G probably benign Het
Mpdz G T 4: 81,337,263 (GRCm39) A10D probably damaging Het
Myh4 A G 11: 67,131,821 (GRCm39) M94V possibly damaging Het
Nectin2 A C 7: 19,472,252 (GRCm39) L46V probably benign Het
Nynrin A T 14: 56,101,425 (GRCm39) T365S probably benign Het
Or4c120 A T 2: 89,000,977 (GRCm39) I193K probably benign Het
Pde4b A C 4: 102,459,875 (GRCm39) E570A probably damaging Het
Phf3 T C 1: 30,855,622 (GRCm39) H988R probably damaging Het
Ppfia2 A G 10: 106,763,708 (GRCm39) K1234E probably benign Het
Prl7c1 A T 13: 27,957,741 (GRCm39) M233K probably benign Het
Prp2 C T 6: 132,577,510 (GRCm39) P266S unknown Het
Rasa1 A T 13: 85,375,237 (GRCm39) M664K possibly damaging Het
Ryr2 T C 13: 11,570,334 (GRCm39) T4930A probably benign Het
Senp8 T C 9: 59,644,763 (GRCm39) Y131C probably damaging Het
Sp100 A G 1: 85,635,837 (GRCm39) I547M probably benign Het
Spata20 A G 11: 94,375,434 (GRCm39) M120T probably damaging Het
Spata31 A G 13: 65,069,664 (GRCm39) H604R probably benign Het
Sycp1 A T 3: 102,842,149 (GRCm39) S53T probably benign Het
Tgm1 T C 14: 55,950,022 (GRCm39) D62G unknown Het
Trpm1 G C 7: 63,918,309 (GRCm39) E1434Q possibly damaging Het
Tshb A T 3: 102,685,480 (GRCm39) Y50N probably damaging Het
Wdr17 A T 8: 55,126,614 (GRCm39) Y413* probably null Het
Zdhhc16 G A 19: 41,926,209 (GRCm39) G55R possibly damaging Het
Other mutations in Ralgds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Ralgds APN 2 28,442,230 (GRCm39) missense probably damaging 1.00
IGL01774:Ralgds APN 2 28,440,554 (GRCm39) nonsense probably null
IGL02747:Ralgds APN 2 28,438,122 (GRCm39) unclassified probably benign
IGL03135:Ralgds APN 2 28,439,100 (GRCm39) missense probably damaging 0.99
PIT4531001:Ralgds UTSW 2 28,435,226 (GRCm39) nonsense probably null
R0049:Ralgds UTSW 2 28,432,391 (GRCm39) synonymous silent
R0052:Ralgds UTSW 2 28,434,400 (GRCm39) critical splice donor site probably null
R0052:Ralgds UTSW 2 28,434,400 (GRCm39) critical splice donor site probably null
R0285:Ralgds UTSW 2 28,440,581 (GRCm39) splice site probably null
R0665:Ralgds UTSW 2 28,435,218 (GRCm39) missense probably damaging 0.98
R0718:Ralgds UTSW 2 28,439,128 (GRCm39) missense probably benign 0.37
R1755:Ralgds UTSW 2 28,440,558 (GRCm39) missense probably damaging 0.99
R1966:Ralgds UTSW 2 28,435,887 (GRCm39) missense probably damaging 0.96
R2873:Ralgds UTSW 2 28,438,781 (GRCm39) splice site probably null
R2874:Ralgds UTSW 2 28,438,781 (GRCm39) splice site probably null
R4082:Ralgds UTSW 2 28,442,283 (GRCm39) utr 3 prime probably benign
R4342:Ralgds UTSW 2 28,442,107 (GRCm39) missense probably damaging 1.00
R4344:Ralgds UTSW 2 28,442,107 (GRCm39) missense probably damaging 1.00
R4647:Ralgds UTSW 2 28,435,532 (GRCm39) critical splice donor site probably null
R4738:Ralgds UTSW 2 28,435,428 (GRCm39) missense probably damaging 1.00
R4762:Ralgds UTSW 2 28,442,164 (GRCm39) missense probably damaging 0.97
R5027:Ralgds UTSW 2 28,442,102 (GRCm39) critical splice acceptor site probably null
R5320:Ralgds UTSW 2 28,435,224 (GRCm39) missense probably damaging 1.00
R5738:Ralgds UTSW 2 28,432,538 (GRCm39) intron probably benign
R5969:Ralgds UTSW 2 28,432,426 (GRCm39) missense probably damaging 1.00
R6014:Ralgds UTSW 2 28,433,673 (GRCm39) missense probably damaging 0.97
R6136:Ralgds UTSW 2 28,440,577 (GRCm39) critical splice donor site probably null
R6137:Ralgds UTSW 2 28,437,600 (GRCm39) missense probably damaging 0.99
R6583:Ralgds UTSW 2 28,423,656 (GRCm39) missense probably damaging 0.99
R6618:Ralgds UTSW 2 28,440,523 (GRCm39) missense probably benign 0.09
R6801:Ralgds UTSW 2 28,438,448 (GRCm39) missense probably damaging 1.00
R7046:Ralgds UTSW 2 28,430,741 (GRCm39) missense probably damaging 1.00
R7095:Ralgds UTSW 2 28,439,320 (GRCm39) missense possibly damaging 0.83
R7276:Ralgds UTSW 2 28,435,884 (GRCm39) missense probably damaging 1.00
R7399:Ralgds UTSW 2 28,433,667 (GRCm39) missense possibly damaging 0.95
R7446:Ralgds UTSW 2 28,435,901 (GRCm39) missense probably damaging 0.99
R7560:Ralgds UTSW 2 28,437,607 (GRCm39) missense probably damaging 1.00
R8384:Ralgds UTSW 2 28,437,182 (GRCm39) missense probably damaging 1.00
R9422:Ralgds UTSW 2 28,435,184 (GRCm39) missense probably benign
X0028:Ralgds UTSW 2 28,438,711 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCGGCTCTGAACCTCTATG -3'
(R):5'- TCTCTCAGTCGATTACCACAGGG -3'

Sequencing Primer
(F):5'- TGAACCTCTATGAGACCTGCAAGG -3'
(R):5'- ATTACCACAGGGCCGTCCTTG -3'
Posted On 2019-06-07