Incidental Mutation 'R4377:Rad54l2'
ID 325154
Institutional Source Beutler Lab
Gene Symbol Rad54l2
Ensembl Gene ENSMUSG00000040661
Gene Name RAD54 like 2 (S. cerevisiae)
Synonyms Srisnf2l, G630026H09Rik, Arip4
MMRRC Submission 041676-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4377 (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 106570421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1300 (S1300P)
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: S1300P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: S1300P

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 unknown
Transcript: ENSMUST00000189553
AA Change: S28P
Meta Mutation Damage Score 0.0594 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (57/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Arhgap22 A G 14: 33,091,467 (GRCm39) M681V probably damaging Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Atp10d T C 5: 72,454,318 (GRCm39) L189P probably damaging Het
BC034090 A G 1: 155,108,196 (GRCm39) C384R probably benign Het
Ccdc180 T A 4: 45,941,877 (GRCm39) L1380Q probably damaging Het
Cd209c T C 8: 4,004,635 (GRCm39) noncoding transcript Het
Cenpp A G 13: 49,647,907 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Csn1s2a T C 5: 87,923,680 (GRCm39) V12A probably benign Het
Dapk1 A G 13: 60,867,498 (GRCm39) D235G probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Frmd3 T A 4: 74,046,535 (GRCm39) probably null Het
Gart G A 16: 91,430,982 (GRCm39) A360V probably benign Het
Gm7251 T A 13: 49,958,676 (GRCm39) noncoding transcript Het
Gon4l C A 3: 88,814,694 (GRCm39) P1888T probably benign Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Itgal A G 7: 126,927,453 (GRCm39) Y981C probably benign Het
Kcp C T 6: 29,493,202 (GRCm39) C107Y probably damaging Het
Kdm2a C T 19: 4,379,082 (GRCm39) V138M probably benign Het
Kit T C 5: 75,801,159 (GRCm39) I515T probably benign Het
Kmt2c C T 5: 25,520,324 (GRCm39) V1929I probably benign Het
Krt33a T C 11: 99,903,253 (GRCm39) E263G possibly damaging Het
Mark2 T C 19: 7,268,054 (GRCm39) I50V possibly damaging Het
Mug2 G T 6: 122,047,966 (GRCm39) probably null Het
Mvk A G 5: 114,591,022 (GRCm39) probably benign Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naa15 T C 3: 51,355,786 (GRCm39) I229T possibly damaging Het
Napb A C 2: 148,574,184 (GRCm39) probably null Het
Ncoa3 T G 2: 165,896,417 (GRCm39) L440R possibly damaging Het
Or52ae7 T C 7: 103,119,278 (GRCm39) S11P probably damaging Het
Or8g52 T A 9: 39,631,103 (GRCm39) F193L probably benign Het
Osbpl8 T A 10: 111,105,280 (GRCm39) I245N possibly damaging Het
Pdia4 G A 6: 47,775,326 (GRCm39) R495W probably damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Plekha5 T C 6: 140,525,191 (GRCm39) Y376H probably damaging Het
Pole T A 5: 110,485,071 (GRCm39) I395K possibly damaging Het
Prcc A G 3: 87,774,714 (GRCm39) Y363H probably damaging Het
Ptprc A T 1: 137,995,663 (GRCm39) M982K probably benign Het
Ptpro T A 6: 137,357,264 (GRCm39) F252I probably benign Het
Pusl1 A G 4: 155,975,037 (GRCm39) V188A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Rtel1 T A 2: 180,997,589 (GRCm39) H1104Q probably damaging Het
Setbp1 T C 18: 78,903,137 (GRCm39) R177G probably damaging Het
Skint6 T C 4: 113,093,715 (GRCm39) T143A possibly damaging Het
Steep1 C A X: 36,087,812 (GRCm39) C206F probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Zfp583 A G 7: 6,320,680 (GRCm39) S111P possibly damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P 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
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
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'- AAAGGCGCAAACATCCTGG -3'
(R):5'- AGTTCCCTCTTGGTGACTGG -3'

Sequencing Primer
(F):5'- AAACATCCTGGGCTCGGACAG -3'
(R):5'- TCTTGGTGACTGGCCAGC -3'
Posted On 2015-07-06