Incidental Mutation 'R5149:Larp7'
ID 395236
Institutional Source Beutler Lab
Gene Symbol Larp7
Ensembl Gene ENSMUSG00000027968
Gene Name La ribonucleoprotein 7, transcriptional regulator
Synonyms D3Wsu161e, C330027G06Rik
MMRRC Submission 042732-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5149 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 127330363-127346998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127334460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 510 (E510K)
Ref Sequence ENSEMBL: ENSMUSP00000029588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029588]
AlphaFold Q05CL8
Predicted Effect probably damaging
Transcript: ENSMUST00000029588
AA Change: E510K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029588
Gene: ENSMUSG00000027968
AA Change: E510K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg A G 16: 22,717,673 (GRCm39) T245A probably benign Het
Akr1c13 G T 13: 4,244,168 (GRCm39) V74L probably benign Het
Amt G A 9: 108,178,650 (GRCm39) V389I possibly damaging Het
Ankrd26 T C 6: 118,535,957 (GRCm39) N159S probably benign Het
Atp1a4 A G 1: 172,059,572 (GRCm39) I840T probably damaging Het
Capn1 T C 19: 6,040,364 (GRCm39) probably null Het
Col27a1 T C 4: 63,249,664 (GRCm39) probably benign Het
Cyp2j5 A G 4: 96,547,744 (GRCm39) L166P probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dchs1 G A 7: 105,404,865 (GRCm39) T2559I probably damaging Het
Dnah12 C A 14: 26,572,883 (GRCm39) S258* probably null Het
Dpep1 A T 8: 123,927,177 (GRCm39) T309S probably benign Het
Epha5 A T 5: 84,298,217 (GRCm39) F559L probably damaging Het
Gm3409 T C 5: 146,474,571 (GRCm39) I29T possibly damaging Het
Grhl1 CAGAAGAAG CAGAAG 12: 24,662,178 (GRCm39) probably benign Het
Gtf3c1 G T 7: 125,267,209 (GRCm39) R941S probably damaging Het
Helb C T 10: 119,941,648 (GRCm39) E347K probably benign Het
Ighv14-3 A G 12: 114,023,710 (GRCm39) S36P probably damaging Het
Klrb1c T A 6: 128,760,670 (GRCm39) M211L probably benign Het
Lrig1 C T 6: 94,605,025 (GRCm39) R190Q possibly damaging Het
Marchf6 A G 15: 31,462,140 (GRCm39) S863P possibly damaging Het
Mgst2 A G 3: 51,589,958 (GRCm39) N132S probably benign Het
Nlgn2 C T 11: 69,716,216 (GRCm39) R775H probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or5w15 A T 2: 87,567,749 (GRCm39) S306R probably benign Het
Or6c6c T C 10: 129,541,377 (GRCm39) V210A probably benign Het
Papln A T 12: 83,818,656 (GRCm39) probably null Het
Poteg C T 8: 27,971,671 (GRCm39) S395L possibly damaging Het
Prox1 T A 1: 189,879,250 (GRCm39) I643F possibly damaging Het
Septin4 A G 11: 87,480,071 (GRCm39) E211G probably damaging Het
Serpinb6e A G 13: 34,016,468 (GRCm39) F422L probably damaging Het
Slc22a19 A G 19: 7,688,503 (GRCm39) L19P probably damaging Het
Snf8 G T 11: 95,934,286 (GRCm39) A136S probably benign Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spta1 A G 1: 174,075,000 (GRCm39) T2409A probably damaging Het
Tat A G 8: 110,723,450 (GRCm39) S313G probably benign Het
Tep1 A T 14: 51,074,855 (GRCm39) C1785* probably null Het
Tmem132b A G 5: 125,699,989 (GRCm39) S176G probably damaging Het
Tnfrsf8 T C 4: 145,029,675 (GRCm39) R42G possibly damaging Het
Trio T C 15: 27,754,115 (GRCm39) D2124G possibly damaging Het
Trp53bp1 A T 2: 121,046,598 (GRCm39) D1067E probably benign Het
Tspan13 T C 12: 36,074,065 (GRCm39) S24G probably damaging Het
Zdbf2 T C 1: 63,344,062 (GRCm39) S814P possibly damaging Het
Zfp213 C A 17: 23,780,373 (GRCm39) R49L probably 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
R3721:Larp7 UTSW 3 127,340,460 (GRCm39) missense probably damaging 1.00
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
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'- AAAATCTTCTGCCAGTACCTCTG -3'
(R):5'- GAATACATTTTGACAACCTCTGTGG -3'

Sequencing Primer
(F):5'- TCTGCTCATGATCCCCTTAAAAAG -3'
(R):5'- GGCCACAATCTCAGAAGT -3'
Posted On 2016-06-21