Incidental Mutation 'R9728:Ralgps1'
ID 731136
Institutional Source Beutler Lab
Gene Symbol Ralgps1
Ensembl Gene ENSMUSG00000038831
Gene Name Ral GEF with PH domain and SH3 binding motif 1
Synonyms RALGPS1A, RALGEF2, 5830418G11Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R9728 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 33023429-33261498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33163626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 144 (V144M)
Ref Sequence ENSEMBL: ENSMUSP00000088563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042615] [ENSMUST00000091039] [ENSMUST00000113165] [ENSMUST00000131298]
AlphaFold A2AR50
Predicted Effect probably damaging
Transcript: ENSMUST00000042615
AA Change: V127M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: V127M

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 273 4.59e-86 SMART
low complexity region 286 301 N/A INTRINSIC
PH 372 485 1.87e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000091039
AA Change: V144M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: V144M

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 290 7.54e-105 SMART
low complexity region 303 318 N/A INTRINSIC
low complexity region 397 411 N/A INTRINSIC
PH 460 573 1.87e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113165
AA Change: V144M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: V144M

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 290 7.54e-105 SMART
low complexity region 303 318 N/A INTRINSIC
low complexity region 397 411 N/A INTRINSIC
PH 459 572 1.87e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131298
AA Change: V144M

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: V144M

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 290 7.54e-105 SMART
low complexity region 303 318 N/A INTRINSIC
PH 390 503 1.87e-13 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr G A 9: 95,797,050 (GRCm39) A1698T probably benign Het
Caml T A 13: 55,779,670 (GRCm39) S248T possibly damaging Het
Copg1 A G 6: 87,879,225 (GRCm39) I424V probably damaging Het
Cwh43 A T 5: 73,565,629 (GRCm39) N65Y possibly damaging Het
Defb1 A G 8: 22,284,486 (GRCm39) Y35C probably damaging Het
Disc1 A T 8: 125,959,795 (GRCm39) E769V probably null Het
Egln1 G A 8: 125,675,093 (GRCm39) T234I possibly damaging Het
Esco2 A T 14: 66,069,069 (GRCm39) F80L probably benign Het
Frem2 C T 3: 53,564,052 (GRCm39) A152T probably benign Het
Gcc1 T C 6: 28,420,544 (GRCm39) R258G probably damaging Het
Gm19410 A G 8: 36,247,594 (GRCm39) T469A possibly damaging Het
Gm4884 A T 7: 40,692,689 (GRCm39) Q219H probably benign Het
Gpr160 A G 3: 30,950,144 (GRCm39) N72S probably damaging Het
Hps3 C A 3: 20,065,128 (GRCm39) A771S probably benign Het
Igkv12-46 G T 6: 69,741,967 (GRCm39) P4T possibly damaging Het
Iqcf5 A T 9: 106,393,168 (GRCm39) I142L probably damaging Het
Kcna10 A T 3: 107,101,513 (GRCm39) N48I possibly damaging Het
Klhdc9 A G 1: 171,187,357 (GRCm39) S214P probably damaging Het
Knop1 C T 7: 118,451,840 (GRCm39) S293N Het
Lgr6 A G 1: 134,915,245 (GRCm39) L778P probably damaging Het
Lrrk2 A G 15: 91,618,228 (GRCm39) N909S probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mei1 G A 15: 81,966,098 (GRCm39) G240D Het
Miox A T 15: 89,218,703 (GRCm39) probably benign Het
Myo1e A G 9: 70,223,924 (GRCm39) Y128C probably damaging Het
Nlrp9a T A 7: 26,256,915 (GRCm39) Y178N probably damaging Het
Or14a259 A G 7: 86,012,771 (GRCm39) L258P probably damaging Het
Or5m13 A G 2: 85,748,887 (GRCm39) N206S possibly damaging Het
Or8u8 A T 2: 86,011,636 (GRCm39) M273K possibly damaging Het
Pde11a C A 2: 76,121,608 (GRCm39) L324F probably damaging Het
Pprc1 T C 19: 46,060,639 (GRCm39) V1568A probably damaging Het
Rgs22 A T 15: 36,040,856 (GRCm39) V1001E probably benign Het
Sapcd2 C A 2: 25,262,669 (GRCm39) A76D probably damaging Het
Sec24b A G 3: 129,790,422 (GRCm39) I701T probably damaging Het
Sema4a T C 3: 88,348,187 (GRCm39) probably null Het
Setd5 G T 6: 113,128,366 (GRCm39) V1440L probably benign Het
Sik3 A G 9: 46,106,142 (GRCm39) K337E possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc23a2 G T 2: 131,900,130 (GRCm39) N568K probably damaging Het
Spag16 A G 1: 69,962,842 (GRCm39) R330G probably benign Het
Sspo G A 6: 48,432,707 (GRCm39) G861D probably damaging Het
Sun5 T A 2: 153,709,466 (GRCm39) M75L probably benign Het
Syde1 AGCCCGAAAACACGGGGCTCTGC AGC 10: 78,424,638 (GRCm39) probably null Het
Synrg A G 11: 83,915,117 (GRCm39) Y963C probably damaging Het
Tdpoz6 A T 3: 93,599,807 (GRCm39) C187* probably null Het
Trbv15 A T 6: 41,118,550 (GRCm39) E102V possibly damaging Het
Trim43b G T 9: 88,973,395 (GRCm39) H113N probably benign Het
Trrap G T 5: 144,726,193 (GRCm39) D381Y probably benign Het
Tubb6 A G 18: 67,534,671 (GRCm39) H190R probably benign Het
Unc45a G T 7: 79,978,448 (GRCm39) L667I probably benign Het
Vav1 A G 17: 57,612,459 (GRCm39) D570G probably benign Het
Vmn1r214 T C 13: 23,219,007 (GRCm39) V167A probably benign Het
Vmn2r112 G A 17: 22,824,108 (GRCm39) M454I probably damaging Het
Vwf C A 6: 125,568,670 (GRCm39) L398I possibly damaging Het
Zfp13 C T 17: 23,799,788 (GRCm39) R107K possibly damaging Het
Zfp318 G A 17: 46,707,713 (GRCm39) R257Q probably benign Het
Zfp9 G T 6: 118,443,851 (GRCm39) A58E probably benign Het
Other mutations in Ralgps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Ralgps1 APN 2 33,027,694 (GRCm39) makesense probably null
IGL00780:Ralgps1 APN 2 33,163,639 (GRCm39) missense probably damaging 1.00
IGL00951:Ralgps1 APN 2 33,163,614 (GRCm39) missense probably damaging 1.00
IGL01358:Ralgps1 APN 2 33,033,061 (GRCm39) missense possibly damaging 0.62
IGL02346:Ralgps1 APN 2 33,047,782 (GRCm39) critical splice donor site probably null
IGL02481:Ralgps1 APN 2 33,230,741 (GRCm39) missense probably benign 0.04
IGL03281:Ralgps1 APN 2 33,062,428 (GRCm39) critical splice donor site probably null
IGL03284:Ralgps1 APN 2 33,036,577 (GRCm39) splice site probably benign
IGL03377:Ralgps1 APN 2 33,062,473 (GRCm39) missense probably damaging 1.00
R0007:Ralgps1 UTSW 2 33,033,401 (GRCm39) missense probably damaging 0.97
R0029:Ralgps1 UTSW 2 33,031,031 (GRCm39) missense probably benign
R0309:Ralgps1 UTSW 2 33,047,935 (GRCm39) missense probably benign
R0320:Ralgps1 UTSW 2 33,031,027 (GRCm39) missense possibly damaging 0.59
R0622:Ralgps1 UTSW 2 33,064,459 (GRCm39) nonsense probably null
R1277:Ralgps1 UTSW 2 33,064,437 (GRCm39) missense possibly damaging 0.51
R1797:Ralgps1 UTSW 2 33,230,723 (GRCm39) critical splice donor site probably null
R2921:Ralgps1 UTSW 2 33,033,082 (GRCm39) missense probably damaging 0.99
R3123:Ralgps1 UTSW 2 33,048,968 (GRCm39) missense possibly damaging 0.81
R3124:Ralgps1 UTSW 2 33,048,968 (GRCm39) missense possibly damaging 0.81
R4741:Ralgps1 UTSW 2 33,226,599 (GRCm39) missense probably benign 0.00
R4894:Ralgps1 UTSW 2 33,033,115 (GRCm39) missense possibly damaging 0.71
R5148:Ralgps1 UTSW 2 33,048,999 (GRCm39) missense probably damaging 1.00
R5255:Ralgps1 UTSW 2 33,166,171 (GRCm39) missense probably damaging 1.00
R5877:Ralgps1 UTSW 2 33,133,640 (GRCm39) unclassified probably benign
R6330:Ralgps1 UTSW 2 33,064,455 (GRCm39) missense probably damaging 1.00
R6908:Ralgps1 UTSW 2 33,033,112 (GRCm39) missense probably benign 0.17
R7252:Ralgps1 UTSW 2 33,058,200 (GRCm39) missense probably benign 0.12
R7299:Ralgps1 UTSW 2 33,047,885 (GRCm39) missense probably benign
R7366:Ralgps1 UTSW 2 33,214,700 (GRCm39) missense possibly damaging 0.88
R7973:Ralgps1 UTSW 2 33,036,651 (GRCm39) missense probably damaging 1.00
R8422:Ralgps1 UTSW 2 33,062,442 (GRCm39) missense possibly damaging 0.81
R8513:Ralgps1 UTSW 2 33,226,626 (GRCm39) missense probably damaging 1.00
R8710:Ralgps1 UTSW 2 33,035,433 (GRCm39) missense probably damaging 0.98
R8733:Ralgps1 UTSW 2 33,174,836 (GRCm39) critical splice donor site probably null
R8841:Ralgps1 UTSW 2 33,045,329 (GRCm39) missense probably benign
R9261:Ralgps1 UTSW 2 33,226,571 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTCTTTAGTTCCCAGGG -3'
(R):5'- GGGAGGAAATGAGCATATGTTTCC -3'

Sequencing Primer
(F):5'- AGGGACTGTCCTGCCCTTAG -3'
(R):5'- GAGCATATGTTTCCTATGAACTTCC -3'
Posted On 2022-10-06