Incidental Mutation 'R2187:Rad54l2'
ID 237878
Institutional Source Beutler Lab
Gene Symbol Rad54l2
Ensembl Gene ENSMUSG00000040661
Gene Name RAD54 like 2 (S. cerevisiae)
Synonyms Srisnf2l, G630026H09Rik, Arip4
MMRRC Submission 040189-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2187 (G1)
Quality Score 105
Status Not validated
Chromosome 9
Chromosomal Location 106565281-106666393 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) ACCTCCTCCTCCTCCTCCTCCTCCTC to ACCTCCTCCTCCTCCTCCTCCTC at 106631191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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
Abcg1 T A 17: 31,324,491 (GRCm39) S245R probably damaging Het
AI597479 T A 1: 43,139,983 (GRCm39) W70R probably damaging Het
Ankrd55 A G 13: 112,520,039 (GRCm39) S575G probably benign Het
Bfsp2 T A 9: 103,303,976 (GRCm39) K343* probably null Het
Cant1 A T 11: 118,299,667 (GRCm39) Y227* probably null Het
Cd2bp2 T C 7: 126,793,963 (GRCm39) N109D probably benign Het
Chmp6 A G 11: 119,807,562 (GRCm39) E135G possibly damaging Het
Dsp T G 13: 38,360,383 (GRCm39) S329R probably damaging Het
Epha5 A T 5: 84,234,223 (GRCm39) F767L probably damaging Het
Epha7 A T 4: 28,942,648 (GRCm39) T566S possibly damaging Het
Erap1 A T 13: 74,810,524 (GRCm39) I288F probably damaging Het
Erich6 A G 3: 58,537,266 (GRCm39) probably null Het
Fbxo10 A G 4: 45,058,531 (GRCm39) V402A probably benign Het
Fndc1 T A 17: 7,960,604 (GRCm39) I1604F probably damaging Het
Foxd4 T G 19: 24,877,219 (GRCm39) Q327P probably damaging Het
Fxn T A 19: 24,257,853 (GRCm39) N26I probably benign Het
Hsf5 G T 11: 87,529,010 (GRCm39) G582C possibly damaging Het
Itga8 A G 2: 12,199,231 (GRCm39) V522A possibly damaging Het
Kplce A G 3: 92,775,922 (GRCm39) S254P probably damaging Het
Lyst C T 13: 13,883,926 (GRCm39) T2938I possibly damaging Het
Mib2 T C 4: 155,739,390 (GRCm39) E863G possibly damaging Het
Mrgpra9 A G 7: 46,884,797 (GRCm39) F290S probably damaging Het
Mst1 T C 9: 107,961,539 (GRCm39) Y599H possibly damaging Het
Mylk4 T C 13: 32,905,996 (GRCm39) I165V probably damaging Het
Nipsnap2 T C 5: 129,823,537 (GRCm39) probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Nup93 T A 8: 95,027,478 (GRCm39) S295R probably damaging Het
Nutm2 A T 13: 50,621,453 (GRCm39) Q6L probably benign Het
Or2b6 A T 13: 21,823,555 (GRCm39) I46N probably damaging Het
Or5ak20 T G 2: 85,184,259 (GRCm39) S4R probably benign Het
Or5b12b T A 19: 12,861,619 (GRCm39) C125S probably damaging Het
Or6c33 A G 10: 129,853,557 (GRCm39) E109G probably damaging Het
Pip5k1a A T 3: 94,979,229 (GRCm39) L189Q probably damaging Het
Plekha4 C T 7: 45,198,698 (GRCm39) R574C probably damaging Het
Ppp2cb A G 8: 34,100,705 (GRCm39) E42G possibly damaging Het
Prkd3 T A 17: 79,282,983 (GRCm39) Q244L probably benign Het
Ptpn14 C T 1: 189,595,425 (GRCm39) R1023* probably null Het
Ptpra A G 2: 130,346,219 (GRCm39) T127A probably benign Het
Rasgrf1 T C 9: 89,876,888 (GRCm39) I751T possibly damaging Het
Rbm27 A G 18: 42,459,022 (GRCm39) K697R probably damaging Het
Rhoa C T 9: 108,212,352 (GRCm39) T127M probably benign Het
Rnpepl1 A G 1: 92,844,617 (GRCm39) S370G probably null Het
Sdk1 C T 5: 142,100,329 (GRCm39) T1453I probably damaging Het
Sel1l2 A G 2: 140,072,793 (GRCm39) L614S probably damaging Het
Slc6a20b T A 9: 123,427,653 (GRCm39) I419F probably damaging Het
Slc8a1 C T 17: 81,955,982 (GRCm39) S352N possibly damaging Het
Spta1 A G 1: 174,020,532 (GRCm39) D547G probably damaging Het
Tc2n G A 12: 101,672,803 (GRCm39) T46I probably damaging Het
Terb1 T A 8: 105,199,516 (GRCm39) Y476F probably benign Het
Trim12a T A 7: 103,953,399 (GRCm39) E237D probably damaging Het
Usp47 T C 7: 111,666,398 (GRCm39) L309P 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
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'- AGAAGTTCTGTGGCCCTTTCC -3'
(R):5'- AAGTGCAGCTGTGGTGATTC -3'

Sequencing Primer
(F):5'- AAACCTGGTTGACAGTGAGTTCC -3'
(R):5'- GGTGATTCTGATGCCTCTTGACC -3'
Posted On 2014-10-02