Incidental Mutation 'R1565:Larp1b'
ID 175180
Institutional Source Beutler Lab
Gene Symbol Larp1b
Ensembl Gene ENSMUSG00000025762
Gene Name La ribonucleoprotein 1B
Synonyms 4933421B21Rik, Larp2, 1700108L22Rik
MMRRC Submission 039604-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1565 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 40904263-40994669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40926819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 184 (N184S)
Ref Sequence ENSEMBL: ENSMUSP00000142106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048490] [ENSMUST00000191805] [ENSMUST00000191872]
AlphaFold F6U5V1
Predicted Effect probably damaging
Transcript: ENSMUST00000048490
AA Change: N231S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037127
Gene: ENSMUSG00000025762
AA Change: N231S

DomainStartEndE-ValueType
low complexity region 28 49 N/A INTRINSIC
low complexity region 122 133 N/A INTRINSIC
low complexity region 138 164 N/A INTRINSIC
LA 213 291 4.35e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191805
AA Change: N231S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141487
Gene: ENSMUSG00000025762
AA Change: N231S

DomainStartEndE-ValueType
low complexity region 28 49 N/A INTRINSIC
low complexity region 122 133 N/A INTRINSIC
low complexity region 138 164 N/A INTRINSIC
LA 213 291 4.35e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191872
AA Change: N184S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142106
Gene: ENSMUSG00000025762
AA Change: N184S

DomainStartEndE-ValueType
low complexity region 28 49 N/A INTRINSIC
low complexity region 70 86 N/A INTRINSIC
low complexity region 91 117 N/A INTRINSIC
LA 166 244 4.35e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191998
Predicted Effect unknown
Transcript: ENSMUST00000193795
AA Change: N212S
Meta Mutation Damage Score 0.8934 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 96% (82/85)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,771,327 (GRCm39) G270S probably benign Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Adamts14 A T 10: 61,106,676 (GRCm39) M148K probably damaging Het
Adcy5 A G 16: 35,089,327 (GRCm39) E508G probably damaging Het
Ankfy1 T A 11: 72,648,144 (GRCm39) L875H probably damaging Het
Cacng3 A T 7: 122,367,624 (GRCm39) D168V probably damaging Het
Clpb G A 7: 101,434,668 (GRCm39) R488Q probably benign Het
Cltrn A G X: 162,901,230 (GRCm39) D184G possibly damaging Het
Cpxm2 A T 7: 131,663,874 (GRCm39) Y350N probably damaging Het
D130040H23Rik T A 8: 69,755,812 (GRCm39) *406R probably null Het
Dnah10 T A 5: 124,906,678 (GRCm39) D4236E probably damaging Het
Dpf3 T A 12: 83,417,391 (GRCm39) Y27F probably damaging Het
Esp4 T C 17: 40,913,486 (GRCm39) *118Q probably null Het
Fam222b T C 11: 78,045,488 (GRCm39) S222P possibly damaging Het
Flnc T C 6: 29,455,170 (GRCm39) V1933A probably damaging Het
Gem T C 4: 11,713,709 (GRCm39) F282L possibly damaging Het
Gli2 T C 1: 118,769,660 (GRCm39) T631A possibly damaging Het
Gpld1 T A 13: 25,140,051 (GRCm39) V116E probably damaging Het
Gpr176 A G 2: 118,110,695 (GRCm39) M188T probably benign Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
Hpdl T C 4: 116,678,080 (GRCm39) N127S probably damaging Het
Hsd17b8 C T 17: 34,246,469 (GRCm39) V105I possibly damaging Het
Id4 G T 13: 48,415,770 (GRCm39) V151L possibly damaging Het
Kcnh8 G T 17: 53,263,909 (GRCm39) G802V probably benign Het
Lamc1 C A 1: 153,118,489 (GRCm39) S894I probably benign Het
Lhx1 A T 11: 84,410,647 (GRCm39) S226T probably benign Het
Lmo7 A T 14: 102,124,957 (GRCm39) Q472L probably damaging Het
Mog G C 17: 37,328,474 (GRCm39) N152K possibly damaging Het
Mttp A G 3: 137,822,166 (GRCm39) probably null Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Myo9b A G 8: 71,767,836 (GRCm39) N303S possibly damaging Het
Nek3 T C 8: 22,622,217 (GRCm39) probably null Het
Nlrc4 A T 17: 74,748,926 (GRCm39) D771E probably benign Het
Nup160 A T 2: 90,552,405 (GRCm39) N1127I possibly damaging Het
Oas1h A T 5: 121,000,663 (GRCm39) N91I probably damaging Het
Or13p4 T A 4: 118,547,389 (GRCm39) N87Y probably damaging Het
Or4c120 A T 2: 89,000,971 (GRCm39) V195D probably benign Het
Or4c121 G T 2: 89,024,227 (GRCm39) S50R probably damaging Het
Parp4 T C 14: 56,827,329 (GRCm39) probably benign Het
Pi4ka G A 16: 17,099,764 (GRCm39) C96Y probably null Het
Pira2 A T 7: 3,847,548 (GRCm39) F47Y probably damaging Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Plekhg1 C T 10: 3,890,526 (GRCm39) T394I probably damaging Het
Pramel22 G A 4: 143,382,187 (GRCm39) Q170* probably null Het
Psmd1 T C 1: 86,019,719 (GRCm39) probably benign Het
Rab3ip A T 10: 116,775,128 (GRCm39) C77S probably benign Het
Reln A T 5: 22,130,211 (GRCm39) M2700K probably benign Het
Rfx1 A G 8: 84,800,575 (GRCm39) T59A probably benign Het
Ric8b G T 10: 84,815,963 (GRCm39) V405L probably benign Het
Rufy3 G T 5: 88,788,491 (GRCm39) A479S probably damaging Het
Sardh A T 2: 27,132,731 (GRCm39) Y166N probably damaging Het
Slamf6 T G 1: 171,761,975 (GRCm39) V132G possibly damaging Het
Slc12a3 T G 8: 95,072,505 (GRCm39) H674Q possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srsf9 A G 5: 115,465,429 (GRCm39) N21S possibly damaging Het
Stkld1 A T 2: 26,840,102 (GRCm39) T391S probably benign Het
Sumf2 C A 5: 129,888,755 (GRCm39) N230K probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Thsd7b T A 1: 129,523,778 (GRCm39) S194T possibly damaging Het
Tnn T A 1: 159,924,835 (GRCm39) Y1173F probably damaging Het
Top2a A G 11: 98,891,880 (GRCm39) F1122L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim39 G A 17: 36,579,746 (GRCm39) R70W probably damaging Het
Ttn G A 2: 76,624,605 (GRCm39) T15289I probably damaging Het
Ugt2b38 A T 5: 87,559,773 (GRCm39) V373E probably damaging Het
Usp54 A G 14: 20,657,227 (GRCm39) S24P probably damaging Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Xylt2 C T 11: 94,558,420 (GRCm39) A579T probably benign Het
Zbtb21 A G 16: 97,753,627 (GRCm39) S247P probably benign Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfp251 T A 15: 76,737,238 (GRCm39) R613S probably damaging Het
Zfp251 C T 15: 76,737,239 (GRCm39) R613K possibly damaging Het
Zfp91 T C 19: 12,756,439 (GRCm39) D135G probably benign Het
Other mutations in Larp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Larp1b APN 3 40,987,875 (GRCm39) nonsense probably null
IGL01636:Larp1b APN 3 40,924,913 (GRCm39) missense probably benign 0.35
IGL01845:Larp1b APN 3 40,924,960 (GRCm39) missense probably benign 0.03
IGL02192:Larp1b APN 3 40,921,929 (GRCm39) missense probably benign 0.01
IGL03372:Larp1b APN 3 40,978,962 (GRCm39) missense possibly damaging 0.79
R0396:Larp1b UTSW 3 40,924,996 (GRCm39) missense probably damaging 1.00
R0512:Larp1b UTSW 3 40,924,469 (GRCm39) missense probably benign 0.00
R0975:Larp1b UTSW 3 40,924,925 (GRCm39) missense probably damaging 0.99
R1119:Larp1b UTSW 3 40,987,963 (GRCm39) missense possibly damaging 0.87
R1337:Larp1b UTSW 3 40,987,837 (GRCm39) missense probably damaging 1.00
R1460:Larp1b UTSW 3 40,916,653 (GRCm39) missense probably benign
R1589:Larp1b UTSW 3 40,987,909 (GRCm39) missense probably damaging 1.00
R1640:Larp1b UTSW 3 40,988,507 (GRCm39) start codon destroyed probably null 0.04
R1899:Larp1b UTSW 3 40,918,519 (GRCm39) missense probably benign 0.04
R2133:Larp1b UTSW 3 40,924,970 (GRCm39) missense possibly damaging 0.69
R3054:Larp1b UTSW 3 40,918,535 (GRCm39) missense probably benign 0.10
R4621:Larp1b UTSW 3 40,918,424 (GRCm39) missense possibly damaging 0.71
R4818:Larp1b UTSW 3 40,925,005 (GRCm39) missense probably damaging 1.00
R5023:Larp1b UTSW 3 40,988,420 (GRCm39) missense possibly damaging 0.88
R5166:Larp1b UTSW 3 40,918,487 (GRCm39) nonsense probably null
R5357:Larp1b UTSW 3 40,978,950 (GRCm39) missense probably benign 0.04
R5364:Larp1b UTSW 3 40,931,658 (GRCm39) missense probably damaging 0.99
R5492:Larp1b UTSW 3 40,924,334 (GRCm39) missense probably damaging 0.99
R5495:Larp1b UTSW 3 40,990,257 (GRCm39) missense probably damaging 1.00
R7070:Larp1b UTSW 3 40,931,086 (GRCm39) missense probably damaging 1.00
R7293:Larp1b UTSW 3 40,939,879 (GRCm39) missense
R7615:Larp1b UTSW 3 40,990,251 (GRCm39) missense probably benign 0.01
R7615:Larp1b UTSW 3 40,987,969 (GRCm39) missense possibly damaging 0.79
R7717:Larp1b UTSW 3 40,926,879 (GRCm39) missense probably damaging 0.97
R8060:Larp1b UTSW 3 40,939,837 (GRCm39) missense
R8282:Larp1b UTSW 3 40,991,245 (GRCm39) missense probably damaging 0.99
R8429:Larp1b UTSW 3 40,931,662 (GRCm39) makesense probably null
R8458:Larp1b UTSW 3 40,930,995 (GRCm39) missense probably benign 0.00
R9189:Larp1b UTSW 3 40,925,039 (GRCm39) missense probably damaging 1.00
R9468:Larp1b UTSW 3 40,930,990 (GRCm39) missense probably benign 0.00
R9628:Larp1b UTSW 3 40,916,103 (GRCm39) critical splice donor site probably null
X0021:Larp1b UTSW 3 40,921,929 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAAGTGAACCGTTCTTCCCAGTGT -3'
(R):5'- GGGGCTACTTCTGGTGATAAACCCA -3'

Sequencing Primer
(F):5'- GGAATCTTTCAGTGAACTGACTC -3'
(R):5'- CAATGCTCTGCTCttttaaacac -3'
Posted On 2014-04-24