Incidental Mutation 'R1018:Rad54l2'
ID 96616
Institutional Source Beutler Lab
Gene Symbol Rad54l2
Ensembl Gene ENSMUSG00000040661
Gene Name RAD54 like 2 (S. cerevisiae)
Synonyms Srisnf2l, G630026H09Rik, Arip4
MMRRC Submission 039122-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1018 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106565281-106666393 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106589589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 601 (C601F)
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: C601F

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: C601F

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
Meta Mutation Damage Score 0.1248 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.7%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,837,325 (GRCm39) C403F probably damaging Het
Adam20 C T 8: 41,249,146 (GRCm39) Q419* probably null Het
Ankrd36 C T 11: 5,596,876 (GRCm39) probably benign Het
Arl8b T A 6: 108,795,572 (GRCm39) I170K probably damaging Het
Atp5pb A T 3: 105,861,488 (GRCm39) V78E possibly damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cgnl1 A G 9: 71,633,340 (GRCm39) Y4H probably damaging Het
Cnn2 T C 10: 79,829,397 (GRCm39) C176R probably damaging Het
Dst A G 1: 34,233,174 (GRCm39) D3392G probably damaging Het
Eed T C 7: 89,617,019 (GRCm39) probably benign Het
Efl1 T A 7: 82,412,221 (GRCm39) V870E possibly damaging Het
Epx T C 11: 87,760,129 (GRCm39) N495S probably benign Het
Fbxw20 T A 9: 109,050,404 (GRCm39) Y407F probably benign Het
Gbp9 T A 5: 105,228,126 (GRCm39) Q552L probably benign Het
Hspa13 C A 16: 75,558,164 (GRCm39) V134L possibly damaging Het
Il16 T C 7: 83,323,746 (GRCm39) N268S probably damaging Het
Kif14 G A 1: 136,423,579 (GRCm39) probably benign Het
Lrig1 G A 6: 94,599,583 (GRCm39) probably benign Het
Myo7a T A 7: 97,756,212 (GRCm39) D29V probably damaging Het
Nsd2 A G 5: 34,000,585 (GRCm39) K34R probably damaging Het
Or4a15 C A 2: 89,193,523 (GRCm39) L83F possibly damaging Het
P3h1 C A 4: 119,095,104 (GRCm39) T287K probably damaging Het
Pkhd1 A T 1: 20,271,483 (GRCm39) H3023Q possibly damaging Het
Plxna1 A G 6: 89,319,942 (GRCm39) L535P probably damaging Het
Prom1 A T 5: 44,187,056 (GRCm39) S400R probably benign Het
Psap T G 10: 60,136,590 (GRCm39) L523R probably damaging Het
Psme4 C T 11: 30,754,310 (GRCm39) T189I probably damaging Het
Ptpn12 A T 5: 21,234,867 (GRCm39) S39T possibly damaging Het
Qtrt2 T A 16: 43,698,363 (GRCm39) H98L possibly damaging Het
Saxo4 A T 19: 10,456,824 (GRCm39) probably benign Het
Sfswap A G 5: 129,631,640 (GRCm39) K756R possibly damaging Het
Slc24a5 T C 2: 124,910,827 (GRCm39) V86A probably damaging Het
Srrm2 T C 17: 24,041,514 (GRCm39) S2575P probably damaging Het
Stam T C 2: 14,122,185 (GRCm39) probably benign Het
Tbx6 T A 7: 126,382,364 (GRCm39) probably benign Het
Tmem131 A C 1: 36,833,900 (GRCm39) F1727V probably damaging Het
Tpr T A 1: 150,317,934 (GRCm39) H2147Q possibly damaging Het
Trio T A 15: 27,871,257 (GRCm39) H620L probably damaging Het
Uba5 T C 9: 103,927,102 (GRCm39) T292A probably benign Het
Unc5a T A 13: 55,138,765 (GRCm39) V48E possibly damaging Het
Upf1 G T 8: 70,791,556 (GRCm39) H514Q possibly damaging Het
Usp9y A G Y: 1,341,414 (GRCm39) probably benign Het
Vmn2r6 T A 3: 64,464,261 (GRCm39) D191V probably benign Het
Wapl T C 14: 34,413,863 (GRCm39) Y242H possibly damaging Het
Zfp341 A T 2: 154,487,972 (GRCm39) N812Y probably damaging Het
Zfp358 C A 8: 3,546,843 (GRCm39) S475* probably null Het
Zfp957 C A 14: 79,450,182 (GRCm39) C539F 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
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
R3718:Rad54l2 UTSW 9 106,570,726 (GRCm39) missense probably benign
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'- TTCCTTCACCCAGAATTCCCACGAG -3'
(R):5'- ACAGCGTCACTGTCTGTACCATCC -3'

Sequencing Primer
(F):5'- CACAGAAAGCCTTCAGAGGA -3'
(R):5'- ATTTCCAGAAAATGGTGTGGC -3'
Posted On 2014-01-05