Incidental Mutation 'R3718:Rad54l2'
ID 258796
Institutional Source Beutler Lab
Gene Symbol Rad54l2
Ensembl Gene ENSMUSG00000040661
Gene Name RAD54 like 2 (S. cerevisiae)
Synonyms Srisnf2l, G630026H09Rik, Arip4
MMRRC Submission 040710-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3718 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106565281-106666393 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106570726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1198 (V1198A)
Ref Sequence ENSEMBL: ENSMUSP00000045454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046502]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046502
AA Change: V1198A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: V1198A

DomainStartEndE-ValueType
coiled coil region 20 49 N/A INTRINSIC
low complexity region 73 85 N/A INTRINSIC
low complexity region 130 146 N/A INTRINSIC
low complexity region 186 200 N/A INTRINSIC
low complexity region 215 229 N/A INTRINSIC
DEXDc 267 520 4.21e-20 SMART
HELICc 751 854 1.88e-17 SMART
low complexity region 959 976 N/A INTRINSIC
low complexity region 1348 1368 N/A INTRINSIC
low complexity region 1453 1460 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189553
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (36/37)
MGI Phenotype PHENOTYPE: Homozygous null embryos show delayed growth, reduced cell proliferation, increased apoptosis and die by E11.5. At E9.5-E10.5, most major organs are smaller and the neural tube is shrunk in some cases. Mutant MEFs cease to grow after 2-3 passages showing increased apoptosis and reduced DNA synthesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra T C 15: 41,729,689 (GRCm39) D237G probably benign Het
Alas2 T C X: 149,343,726 (GRCm39) probably benign Het
Ano6 A G 15: 95,811,260 (GRCm39) D120G probably damaging Het
Aspm T C 1: 139,408,627 (GRCm39) Y2505H probably benign Het
Aspm G A 1: 139,418,165 (GRCm39) V2965I probably benign Het
Ccna2 A T 3: 36,620,387 (GRCm39) V285E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnajc10 A G 2: 80,155,089 (GRCm39) probably benign Het
Dpp3 A G 19: 4,973,093 (GRCm39) probably null Het
Gng11 G A 6: 4,008,078 (GRCm39) R47H probably benign Het
Hivep1 C T 13: 42,311,971 (GRCm39) H1404Y probably damaging Het
Il18r1 A G 1: 40,534,948 (GRCm39) E381G probably benign Het
Il9 G A 13: 56,627,264 (GRCm39) T116I probably damaging Het
Kcnh1 A G 1: 191,921,107 (GRCm39) T129A probably damaging Het
Mroh7 T C 4: 106,561,407 (GRCm39) E612G probably benign Het
Nav1 A T 1: 135,378,368 (GRCm39) I1653K probably damaging Het
Neb T C 2: 52,167,482 (GRCm39) E1948G probably damaging Het
Ntsr1 T C 2: 180,184,499 (GRCm39) F401L probably benign Het
Nup210 A T 6: 90,997,162 (GRCm39) D1626E probably benign Het
Or10q12 A G 19: 13,746,428 (GRCm39) R241G probably damaging Het
Or4k35 A G 2: 111,100,571 (GRCm39) V47A probably benign Het
Or8g26 A G 9: 39,096,361 (GRCm39) R293G probably damaging Het
Pign A G 1: 105,577,006 (GRCm39) probably null Het
Sh3tc2 T C 18: 62,123,414 (GRCm39) V725A probably benign Het
Skint10 A T 4: 112,603,936 (GRCm39) W84R probably damaging Het
Slc40a1 G T 1: 45,950,151 (GRCm39) H434N probably benign Het
Trdv2-1 T C 14: 54,183,995 (GRCm39) Y76H probably benign Het
Trim43c T C 9: 88,727,030 (GRCm39) S286P probably benign Het
Ttn G A 2: 76,575,558 (GRCm39) P25112S probably damaging Het
Ubac1 C T 2: 25,904,953 (GRCm39) R95H probably damaging Het
Vps13d A G 4: 144,802,296 (GRCm39) I405T probably damaging Het
Zc3hav1l G T 6: 38,272,060 (GRCm39) S236R probably damaging Het
Other mutations in Rad54l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Rad54l2 APN 9 106,577,760 (GRCm39) missense probably benign
IGL00718:Rad54l2 APN 9 106,590,654 (GRCm39) missense probably damaging 1.00
IGL00917:Rad54l2 APN 9 106,587,638 (GRCm39) missense possibly damaging 0.95
IGL01319:Rad54l2 APN 9 106,596,245 (GRCm39) missense probably benign 0.18
IGL01447:Rad54l2 APN 9 106,579,971 (GRCm39) missense probably damaging 1.00
IGL01469:Rad54l2 APN 9 106,599,957 (GRCm39) missense probably damaging 1.00
IGL01836:Rad54l2 APN 9 106,593,356 (GRCm39) missense probably benign 0.00
IGL02017:Rad54l2 APN 9 106,631,239 (GRCm39) missense possibly damaging 0.85
IGL02179:Rad54l2 APN 9 106,597,589 (GRCm39) missense probably damaging 1.00
IGL02348:Rad54l2 APN 9 106,597,575 (GRCm39) missense probably damaging 1.00
IGL02822:Rad54l2 APN 9 106,587,606 (GRCm39) missense probably damaging 1.00
IGL03169:Rad54l2 APN 9 106,596,263 (GRCm39) missense probably benign 0.37
IGL03245:Rad54l2 APN 9 106,580,827 (GRCm39) missense probably damaging 1.00
IGL03253:Rad54l2 APN 9 106,581,422 (GRCm39) missense probably damaging 1.00
IGL02988:Rad54l2 UTSW 9 106,577,784 (GRCm39) missense probably benign
PIT4495001:Rad54l2 UTSW 9 106,593,343 (GRCm39) missense probably benign 0.02
R0001:Rad54l2 UTSW 9 106,585,416 (GRCm39) missense probably damaging 0.97
R0069:Rad54l2 UTSW 9 106,587,564 (GRCm39) missense possibly damaging 0.67
R0069:Rad54l2 UTSW 9 106,587,564 (GRCm39) missense possibly damaging 0.67
R0114:Rad54l2 UTSW 9 106,590,654 (GRCm39) missense probably damaging 1.00
R0427:Rad54l2 UTSW 9 106,570,891 (GRCm39) missense possibly damaging 0.65
R0519:Rad54l2 UTSW 9 106,585,498 (GRCm39) missense probably damaging 0.98
R0760:Rad54l2 UTSW 9 106,596,805 (GRCm39) critical splice donor site probably null
R1018:Rad54l2 UTSW 9 106,589,589 (GRCm39) missense probably benign 0.32
R1630:Rad54l2 UTSW 9 106,580,828 (GRCm39) missense possibly damaging 0.79
R1701:Rad54l2 UTSW 9 106,577,692 (GRCm39) critical splice donor site probably null
R1903:Rad54l2 UTSW 9 106,570,916 (GRCm39) splice site probably null
R2187:Rad54l2 UTSW 9 106,631,191 (GRCm39) small deletion probably benign
R2205:Rad54l2 UTSW 9 106,594,997 (GRCm39) missense probably damaging 1.00
R2566:Rad54l2 UTSW 9 106,580,825 (GRCm39) missense possibly damaging 0.95
R2983:Rad54l2 UTSW 9 106,577,789 (GRCm39) missense probably benign 0.10
R3176:Rad54l2 UTSW 9 106,631,142 (GRCm39) critical splice donor site probably null
R3276:Rad54l2 UTSW 9 106,631,142 (GRCm39) critical splice donor site probably null
R4063:Rad54l2 UTSW 9 106,597,613 (GRCm39) missense probably benign 0.10
R4206:Rad54l2 UTSW 9 106,594,994 (GRCm39) missense probably damaging 1.00
R4271:Rad54l2 UTSW 9 106,570,825 (GRCm39) missense probably benign 0.22
R4377:Rad54l2 UTSW 9 106,570,421 (GRCm39) missense probably benign 0.00
R4700:Rad54l2 UTSW 9 106,631,224 (GRCm39) missense possibly damaging 0.85
R4729:Rad54l2 UTSW 9 106,593,317 (GRCm39) missense probably benign
R4872:Rad54l2 UTSW 9 106,595,091 (GRCm39) missense probably damaging 1.00
R4997:Rad54l2 UTSW 9 106,600,108 (GRCm39) missense possibly damaging 0.70
R5475:Rad54l2 UTSW 9 106,583,057 (GRCm39) missense probably damaging 1.00
R5658:Rad54l2 UTSW 9 106,631,191 (GRCm39) small deletion probably benign
R6246:Rad54l2 UTSW 9 106,577,692 (GRCm39) critical splice donor site probably null
R6248:Rad54l2 UTSW 9 106,587,537 (GRCm39) missense probably damaging 1.00
R6329:Rad54l2 UTSW 9 106,595,121 (GRCm39) missense possibly damaging 0.89
R6631:Rad54l2 UTSW 9 106,590,739 (GRCm39) nonsense probably null
R6773:Rad54l2 UTSW 9 106,570,516 (GRCm39) missense probably benign
R7148:Rad54l2 UTSW 9 106,596,318 (GRCm39) nonsense probably null
R7171:Rad54l2 UTSW 9 106,590,677 (GRCm39) missense probably damaging 1.00
R7226:Rad54l2 UTSW 9 106,590,671 (GRCm39) missense probably damaging 0.99
R7327:Rad54l2 UTSW 9 106,570,660 (GRCm39) missense possibly damaging 0.68
R7337:Rad54l2 UTSW 9 106,583,024 (GRCm39) missense probably damaging 1.00
R7636:Rad54l2 UTSW 9 106,597,586 (GRCm39) missense probably damaging 1.00
R7659:Rad54l2 UTSW 9 106,590,777 (GRCm39) missense probably benign 0.11
R7713:Rad54l2 UTSW 9 106,594,422 (GRCm39) missense probably damaging 1.00
R7748:Rad54l2 UTSW 9 106,596,233 (GRCm39) missense possibly damaging 0.53
R8021:Rad54l2 UTSW 9 106,596,840 (GRCm39) missense probably benign 0.00
R8084:Rad54l2 UTSW 9 106,590,701 (GRCm39) missense possibly damaging 0.63
R8552:Rad54l2 UTSW 9 106,570,777 (GRCm39) missense possibly damaging 0.77
R8768:Rad54l2 UTSW 9 106,596,809 (GRCm39) missense probably benign 0.04
R8952:Rad54l2 UTSW 9 106,566,050 (GRCm39) unclassified probably benign
R8953:Rad54l2 UTSW 9 106,570,461 (GRCm39) missense probably benign 0.02
R9041:Rad54l2 UTSW 9 106,600,018 (GRCm39) missense possibly damaging 0.85
R9296:Rad54l2 UTSW 9 106,579,942 (GRCm39) missense probably damaging 1.00
R9451:Rad54l2 UTSW 9 106,585,488 (GRCm39) missense probably benign 0.13
R9523:Rad54l2 UTSW 9 106,573,151 (GRCm39) missense probably damaging 1.00
R9657:Rad54l2 UTSW 9 106,581,372 (GRCm39) missense probably damaging 0.99
R9757:Rad54l2 UTSW 9 106,595,120 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGGCCCCTTAAGTCCAGC -3'
(R):5'- TCAGCAGCGTTGTTATCTCTTG -3'

Sequencing Primer
(F):5'- CACTGGGTGCCTGCCAC -3'
(R):5'- TATCTGCAGGTTCCCAGGG -3'
Posted On 2015-01-23