Incidental Mutation 'R7999:Lrfn3'
ID616260
Institutional Source Beutler Lab
Gene Symbol Lrfn3
Ensembl Gene ENSMUSG00000036957
Gene Nameleucine rich repeat and fibronectin type III domain containing 3
SynonymsSALM4, A530045B06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7999 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location30355489-30362772 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30360024 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 259 (W259R)
Ref Sequence ENSEMBL: ENSMUSP00000037616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046351]
Predicted Effect probably damaging
Transcript: ENSMUST00000046351
AA Change: W259R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037616
Gene: ENSMUSG00000036957
AA Change: W259R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
LRRNT 27 63 7.74e-2 SMART
LRR_TYP 82 105 5.81e-2 SMART
LRR_TYP 106 129 5.06e-2 SMART
LRR_TYP 130 153 6.42e-4 SMART
LRR 158 178 9.24e1 SMART
LRR 179 202 2.67e-1 SMART
LRR 203 226 1.12e1 SMART
LRRCT 249 294 2.72e-3 SMART
IGc2 308 373 2.23e-10 SMART
FN3 423 506 4e-1 SMART
transmembrane domain 538 560 N/A INTRINSIC
low complexity region 592 606 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased frequency of excitatory and inhibitory postsynaptic freuqency and synapse density, [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C A 2: 130,737,452 V753L probably benign Het
Ahi1 A G 10: 20,965,681 E289G probably benign Het
AI481877 G C 4: 59,094,162 F187L probably benign Het
Armc2 C T 10: 42,011,958 E10K possibly damaging Het
Aspscr1 T C 11: 120,678,522 probably null Het
B3galnt1 A G 3: 69,575,215 C238R probably damaging Het
Bak1 A G 17: 27,021,306 L129P probably damaging Het
Bdp1 A G 13: 100,058,896 F1272L possibly damaging Het
C2cd3 G A 7: 100,459,889 probably null Het
Cacna1b A T 2: 24,650,626 V1363E probably damaging Het
Capn11 T C 17: 45,639,206 N344S probably damaging Het
Ces1f A T 8: 93,262,995 V431E possibly damaging Het
Cog3 G T 14: 75,747,093 S94Y possibly damaging Het
Defa29 A T 8: 21,326,843 S45T probably benign Het
Dnah10 A G 5: 124,725,258 D32G probably benign Het
Dnajc24 T A 2: 105,981,020 N70I probably damaging Het
Duox2 C T 2: 122,283,467 V1195I probably benign Het
E430018J23Rik T A 7: 127,392,428 S117C probably damaging Het
Enam A T 5: 88,503,702 R1023S probably benign Het
Ephx4 A T 5: 107,419,833 Q219L probably damaging Het
Eppk1 T C 15: 76,109,004 T1226A probably benign Het
Eppk1 T C 15: 76,109,135 Q1182R probably benign Het
Fiz1 A T 7: 5,008,998 S174T probably benign Het
Ggnbp1 C T 17: 27,029,645 R63C probably benign Het
Gmcl1 G T 6: 86,721,426 A163E probably damaging Het
Gpr137b T C 13: 13,359,406 Y355C probably damaging Het
Gsdmd T A 15: 75,863,446 I13N probably damaging Het
Gtpbp4 T C 13: 8,987,286 D292G probably damaging Het
Hnf1a A T 5: 114,960,174 L123* probably null Het
Ints11 A G 4: 155,886,956 D309G probably benign Het
Ints5 T C 19: 8,897,043 S789P probably benign Het
Jakmip2 G A 18: 43,563,333 A517V probably benign Het
Kat7 A G 11: 95,284,109 Y270H probably damaging Het
Kmt2b A G 7: 30,576,774 S1767P probably damaging Het
Lonp2 A G 8: 86,634,909 D238G probably benign Het
Mmrn2 G A 14: 34,397,922 D250N probably benign Het
Mre11a A T 9: 14,799,669 R49* probably null Het
Mug1 T C 6: 121,880,896 L1116P possibly damaging Het
Mup9 A G 4: 60,418,203 S234P probably benign Het
Nlrp9c A G 7: 26,385,489 F222L possibly damaging Het
Nr2e3 A G 9: 59,948,999 V85A probably damaging Het
Olfr1252 A G 2: 89,722,000 I37T probably benign Het
Prl3d2 A G 13: 27,123,966 T77A probably benign Het
Prpsap1 A T 11: 116,490,216 M1K probably null Het
Prrc2b C T 2: 32,194,414 T297M probably damaging Het
Rasa3 A G 8: 13,631,805 F48S probably benign Het
Rbm24 A T 13: 46,419,031 M1L possibly damaging Het
Ren1 C A 1: 133,354,866 T103K probably damaging Het
Rpf2 C T 10: 40,223,884 G260S probably damaging Het
Sall4 C T 2: 168,752,641 G862D probably damaging Het
Samd4 G T 14: 47,064,247 R336L probably damaging Het
Siglec1 T C 2: 131,071,163 N1611S probably benign Het
Skil A G 3: 31,097,602 H91R possibly damaging Het
Snip1 T C 4: 125,071,381 V193A probably benign Het
Sp2 A T 11: 96,961,837 I87N probably damaging Het
Syna T C 5: 134,559,192 H301R probably benign Het
Tdg A G 10: 82,641,382 K89R possibly damaging Het
Tdrd7 G A 4: 46,010,902 probably null Het
Trak1 G A 9: 121,460,425 R601H probably damaging Het
Triobp T C 15: 78,959,944 L120P probably damaging Het
Utp20 A T 10: 88,770,388 N1697K probably benign Het
Uts2r G A 11: 121,160,669 V120M possibly damaging Het
Vmn2r59 A G 7: 42,046,832 L162P probably damaging Het
Zbtb17 G A 4: 141,461,823 R18Q probably damaging Het
Zfp551 A T 7: 12,417,211 C90* probably null Het
Zfp605 T A 5: 110,128,434 C473S probably damaging Het
Zfp975 A T 7: 42,662,932 Y86N probably benign Het
Other mutations in Lrfn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02187:Lrfn3 APN 7 30355964 missense probably damaging 0.98
R0565:Lrfn3 UTSW 7 30360791 missense probably benign 0.01
R0826:Lrfn3 UTSW 7 30360251 missense probably benign 0.01
R1029:Lrfn3 UTSW 7 30355922 missense probably damaging 0.99
R1434:Lrfn3 UTSW 7 30355927 missense possibly damaging 0.79
R1442:Lrfn3 UTSW 7 30360044 missense probably benign 0.01
R2078:Lrfn3 UTSW 7 30360454 missense possibly damaging 0.93
R4580:Lrfn3 UTSW 7 30360042 missense probably damaging 0.99
R4883:Lrfn3 UTSW 7 30355813 missense possibly damaging 0.87
R4928:Lrfn3 UTSW 7 30360623 missense possibly damaging 0.77
R5000:Lrfn3 UTSW 7 30360380 missense possibly damaging 0.48
R5364:Lrfn3 UTSW 7 30355653 missense possibly damaging 0.91
R5732:Lrfn3 UTSW 7 30359606 missense probably benign 0.22
R5857:Lrfn3 UTSW 7 30359438 missense possibly damaging 0.94
R8146:Lrfn3 UTSW 7 30359879 missense probably benign 0.06
X0064:Lrfn3 UTSW 7 30360461 missense probably benign 0.17
Z1088:Lrfn3 UTSW 7 30360201 missense probably damaging 1.00
Z1177:Lrfn3 UTSW 7 30360659 missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- AATGCAAGTGAAAGTGCCGC -3'
(R):5'- TTTCCCGCCTGCACAAGTTG -3'

Sequencing Primer
(F):5'- AGTGAAAGTGCCGCCATCTTC -3'
(R):5'- TTGGCACGACTGGACATGAC -3'
Posted On2020-01-23