Incidental Mutation 'R3721:Larp7'
ID 258893
Institutional Source Beutler Lab
Gene Symbol Larp7
Ensembl Gene ENSMUSG00000027968
Gene Name La ribonucleoprotein 7, transcriptional regulator
Synonyms D3Wsu161e, C330027G06Rik
MMRRC Submission 040712-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3721 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 127330363-127346998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127340460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 126 (L126P)
Ref Sequence ENSEMBL: ENSMUSP00000029588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029588] [ENSMUST00000197668]
AlphaFold Q05CL8
Predicted Effect probably damaging
Transcript: ENSMUST00000029588
AA Change: L126P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029588
Gene: ENSMUSG00000027968
AA Change: L126P

DomainStartEndE-ValueType
LA 26 106 1.29e-30 SMART
RRM 120 196 5.37e-15 SMART
low complexity region 210 226 N/A INTRINSIC
low complexity region 257 273 N/A INTRINSIC
low complexity region 302 311 N/A INTRINSIC
low complexity region 350 364 N/A INTRINSIC
Pfam:RRM_3 442 540 1.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197698
Predicted Effect probably benign
Transcript: ENSMUST00000197668
SMART Domains Protein: ENSMUSP00000143331
Gene: ENSMUSG00000027968

DomainStartEndE-ValueType
LA 26 80 9.2e-10 SMART
Meta Mutation Damage Score 0.9267 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null mutation display complete perinatal lethality and a decrease in primordial germ cell number and proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a T C 2: 48,782,150 (GRCm39) S228P probably damaging Het
Adamts2 C T 11: 50,664,038 (GRCm39) probably benign Het
Arhgap9 A G 10: 127,164,840 (GRCm39) E588G possibly damaging Het
Ash2l C G 8: 26,308,653 (GRCm39) G453A probably damaging Het
Catsperg2 A G 7: 29,404,527 (GRCm39) V638A probably benign Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cdc73 T C 1: 143,571,191 (GRCm39) I83V possibly damaging Het
Ceacam23 A G 7: 17,636,663 (GRCm39) T247A probably benign Het
Clec2e C A 6: 129,071,373 (GRCm39) E155* probably null Het
Cyp3a59 T A 5: 146,033,407 (GRCm39) M181K probably damaging Het
Dars2 A T 1: 160,890,878 (GRCm39) V111E probably benign Het
Diras2 T A 13: 52,662,059 (GRCm39) I83F probably damaging Het
Dlg2 T A 7: 91,361,008 (GRCm39) probably null Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Eeig2 C T 3: 108,887,083 (GRCm39) R305Q probably damaging Het
Emilin2 T C 17: 71,580,449 (GRCm39) N759S probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Ggnbp1 T C 17: 27,248,587 (GRCm39) V52A probably benign Het
Gpr171 A G 3: 59,005,091 (GRCm39) V228A possibly damaging Het
Gsta3 T C 1: 21,330,313 (GRCm39) M55T probably benign Het
Hectd3 T A 4: 116,856,942 (GRCm39) N496K probably benign Het
Hp1bp3 T G 4: 137,966,919 (GRCm39) F367V probably damaging Het
Il18rap T A 1: 40,576,248 (GRCm39) L253Q probably damaging Het
Irs1 C T 1: 82,267,806 (GRCm39) G137S probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lair1 A C 7: 4,013,782 (GRCm39) L155R probably damaging Het
Lhx1 G A 11: 84,412,654 (GRCm39) R89C probably damaging Het
Lypd4 C A 7: 24,564,884 (GRCm39) A85S probably benign Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myh10 G T 11: 68,703,878 (GRCm39) R1863L probably damaging Het
Myo9a G A 9: 59,775,463 (GRCm39) V1025I probably benign Het
Naa25 T A 5: 121,569,619 (GRCm39) D659E probably benign Het
Nol9 A G 4: 152,124,163 (GRCm39) S118G probably benign Het
Or4k2 C T 14: 50,424,137 (GRCm39) C179Y probably damaging Het
Or5p72 G T 7: 108,022,326 (GRCm39) D183Y probably damaging Het
Pde10a T A 17: 9,188,421 (GRCm39) I907N probably damaging Het
Pkhd1 T C 1: 20,655,879 (GRCm39) D218G probably benign Het
Poll A G 19: 45,542,016 (GRCm39) I430T probably damaging Het
Pomgnt1 T G 4: 116,010,740 (GRCm39) probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rad1 T C 15: 10,488,112 (GRCm39) S79P probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Rcc1 T C 4: 132,065,125 (GRCm39) K133E possibly damaging Het
Ric8a T C 7: 140,441,874 (GRCm39) probably null Het
Rnf135 G T 11: 80,087,743 (GRCm39) A231S probably benign Het
Rps6ka4 A G 19: 6,816,645 (GRCm39) V146A possibly damaging Het
Sh3bp4 A G 1: 89,073,050 (GRCm39) I633V possibly damaging Het
Slc2a2 T A 3: 28,781,301 (GRCm39) N446K probably damaging Het
Slc44a1 T C 4: 53,491,445 (GRCm39) Y61H probably damaging Het
Slc7a1 G A 5: 148,272,343 (GRCm39) R445* probably null Het
Smc5 T C 19: 23,187,856 (GRCm39) M911V probably benign Het
Sntb1 C A 15: 55,506,214 (GRCm39) R453L probably benign Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Srrm2 CTCCTCTTCTTCCTCTTCTTCCTC CTCCTCTTCTTCCTC 17: 24,041,549 (GRCm39) probably benign Het
Trpm1 T G 7: 63,867,475 (GRCm39) probably benign Het
Tufm T C 7: 126,089,632 (GRCm39) M442T probably benign Het
Ubn1 A G 16: 4,891,242 (GRCm39) N539S possibly damaging Het
Other mutations in Larp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02942:Larp7 APN 3 127,337,844 (GRCm39) missense possibly damaging 0.94
R0358:Larp7 UTSW 3 127,340,737 (GRCm39) critical splice donor site probably null
R0601:Larp7 UTSW 3 127,337,858 (GRCm39) missense probably damaging 1.00
R0714:Larp7 UTSW 3 127,340,833 (GRCm39) missense probably damaging 0.99
R0765:Larp7 UTSW 3 127,339,814 (GRCm39) missense probably damaging 1.00
R0865:Larp7 UTSW 3 127,337,884 (GRCm39) missense probably damaging 0.99
R1902:Larp7 UTSW 3 127,334,227 (GRCm39) missense probably damaging 1.00
R2125:Larp7 UTSW 3 127,336,779 (GRCm39) missense probably benign
R3618:Larp7 UTSW 3 127,330,614 (GRCm39) nonsense probably null
R4008:Larp7 UTSW 3 127,334,519 (GRCm39) missense probably benign 0.40
R4165:Larp7 UTSW 3 127,330,611 (GRCm39) missense probably benign 0.02
R4210:Larp7 UTSW 3 127,340,603 (GRCm39) missense probably benign 0.02
R4211:Larp7 UTSW 3 127,340,603 (GRCm39) missense probably benign 0.02
R4738:Larp7 UTSW 3 127,339,694 (GRCm39) critical splice donor site probably null
R5149:Larp7 UTSW 3 127,334,460 (GRCm39) missense probably damaging 0.99
R6703:Larp7 UTSW 3 127,337,873 (GRCm39) missense probably damaging 0.99
R6803:Larp7 UTSW 3 127,330,685 (GRCm39) critical splice acceptor site probably null
R7832:Larp7 UTSW 3 127,337,916 (GRCm39) missense possibly damaging 0.49
R9286:Larp7 UTSW 3 127,340,008 (GRCm39) unclassified probably benign
R9647:Larp7 UTSW 3 127,334,211 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTCCCACAGAAGTACGTACC -3'
(R):5'- GCCAGAGCATTGAAAAGCTC -3'

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