Incidental Mutation 'R7148:Rad54l2'
ID 553955
Institutional Source Beutler Lab
Gene Symbol Rad54l2
Ensembl Gene ENSMUSG00000040661
Gene Name RAD54 like 2 (S. cerevisiae)
Synonyms Srisnf2l, G630026H09Rik, Arip4
MMRRC Submission 045225-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7148 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 106565281-106666393 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 106596318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 207 (G207*)
Ref Sequence ENSEMBL: ENSMUSP00000045454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046502]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000046502
AA Change: G207*
SMART Domains Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: G207*

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: ENSMUST00000190363
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T A 14: 32,110,269 (GRCm39) Y14F probably damaging Het
Acly A G 11: 100,374,608 (GRCm39) V805A possibly damaging Het
Apcdd1 T C 18: 63,084,916 (GRCm39) V371A probably damaging Het
Cacna1g A T 11: 94,356,756 (GRCm39) F127I probably benign Het
Ccdc138 T C 10: 58,374,102 (GRCm39) L374P probably damaging Het
Ces2b A G 8: 105,564,928 (GRCm39) Y504C probably damaging Het
Ces5a C T 8: 94,228,950 (GRCm39) G427S probably damaging Het
Chd1l C T 3: 97,498,632 (GRCm39) V256M probably damaging Het
Col24a1 C T 3: 145,021,060 (GRCm39) T477M probably damaging Het
Dmbt1 T A 7: 130,668,464 (GRCm39) C573* probably null Het
Emcn A T 3: 137,122,855 (GRCm39) Y188F possibly damaging Het
Eva1a T G 6: 82,048,125 (GRCm39) M1R probably null Het
Fam243 T C 16: 92,117,875 (GRCm39) K138E probably benign Het
Fam83h C A 15: 75,877,016 (GRCm39) D194Y probably damaging Het
Flywch1 T C 17: 23,974,649 (GRCm39) K664E probably benign Het
Fzd9 A G 5: 135,278,544 (GRCm39) V447A probably benign Het
Heatr5b T C 17: 79,138,863 (GRCm39) D93G probably damaging Het
Hmcn1 T C 1: 150,562,605 (GRCm39) I2318V probably benign Het
Hyal5 T A 6: 24,876,901 (GRCm39) L258Q probably damaging Het
Itprid1 T C 6: 55,874,671 (GRCm39) I207T probably damaging Het
Kmo T A 1: 175,479,168 (GRCm39) C235S probably damaging Het
Lamc2 G A 1: 153,061,730 (GRCm39) P2S probably benign Het
Lman2 G A 13: 55,500,762 (GRCm39) P146S probably benign Het
Mars2 T C 1: 55,276,673 (GRCm39) I92T probably damaging Het
Msh3 A G 13: 92,491,330 (GRCm39) F27L probably benign Het
Myom2 T C 8: 15,134,577 (GRCm39) V460A possibly damaging Het
Nicn1 T A 9: 108,172,306 (GRCm39) *214R probably null Het
Nsd2 T C 5: 34,042,855 (GRCm39) F1040L possibly damaging Het
Or1ab2 T A 8: 72,864,001 (GRCm39) I197N possibly damaging Het
Osm T A 11: 4,189,936 (GRCm39) I240N probably benign Het
Pard3b T A 1: 62,479,191 (GRCm39) D884E probably benign Het
Pex5 T G 6: 124,382,231 (GRCm39) D150A probably benign Het
Pfkfb4 T C 9: 108,856,676 (GRCm39) V394A probably damaging Het
Pjvk A G 2: 76,488,831 (GRCm39) K334R possibly damaging Het
Pkd1l2 T C 8: 117,807,525 (GRCm39) D171G probably benign Het
Prpf4b T G 13: 35,078,455 (GRCm39) N688K probably benign Het
R3hcc1 T C 14: 69,943,001 (GRCm39) E192G possibly damaging Het
Rhobtb3 G T 13: 76,059,006 (GRCm39) T264K probably benign Het
Rpl27 A G 11: 101,333,232 (GRCm39) probably benign Het
Rxfp3 C T 15: 11,036,863 (GRCm39) V170I possibly damaging Het
Samd4 T A 14: 47,254,140 (GRCm39) S201R probably benign Het
Sell A G 1: 163,893,176 (GRCm39) I131V possibly damaging Het
Semp2l2a T A 8: 13,887,996 (GRCm39) I32L probably benign Het
Sirpb1c A T 3: 15,887,223 (GRCm39) Y205* probably null Het
Smc3 A T 19: 53,630,326 (GRCm39) E1111V possibly damaging Het
Sowaha C A 11: 53,370,182 (GRCm39) V185L probably benign Het
Spata4 A C 8: 55,055,585 (GRCm39) I159L probably benign Het
Spring1 A G 5: 118,393,759 (GRCm39) N46D probably benign Het
Tekt2 A G 4: 126,216,174 (GRCm39) I373T probably benign Het
Tle7 G T 8: 110,836,048 (GRCm39) R119I probably benign Het
Tomm20l T C 12: 71,164,313 (GRCm39) V65A probably benign Het
Trabd2b A G 4: 114,266,547 (GRCm39) D187G probably damaging Het
Trrap A G 5: 144,758,613 (GRCm39) I2147V possibly damaging Het
Tsc22d2 T A 3: 58,324,429 (GRCm39) C440* probably null Het
Ube3b A C 5: 114,544,313 (GRCm39) N570T probably damaging Het
Uevld A G 7: 46,600,724 (GRCm39) I70T probably damaging Het
Usp10 C T 8: 120,663,289 (GRCm39) T37I possibly damaging Het
Vmn2r23 T A 6: 123,689,981 (GRCm39) F286I probably benign Het
Vmn2r62 A G 7: 42,414,640 (GRCm39) V601A probably benign Het
Wdr81 G C 11: 75,336,828 (GRCm39) N401K Het
Ythdc2 G T 18: 44,966,189 (GRCm39) V142F probably benign Het
Zfp346 T C 13: 55,253,263 (GRCm39) F36S possibly damaging Het
Zfp748 C T 13: 67,690,358 (GRCm39) V301M possibly damaging Het
Zim1 T C 7: 6,681,220 (GRCm39) K148E possibly 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
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
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'- TGATGAGGTTTCACAGCCC -3'
(R):5'- TGGAGTCTACCTCTAGCACG -3'

Sequencing Primer
(F):5'- GTTTCACAGCCCGTGCCAAC -3'
(R):5'- AGCACGTATCCCTGTGTTAACTTAG -3'
Posted On 2019-05-15