Incidental Mutation 'R2078:Lrfn3'
ID229279
Institutional Source Beutler Lab
Gene Symbol Lrfn3
Ensembl Gene ENSMUSG00000036957
Gene Nameleucine rich repeat and fibronectin type III domain containing 3
SynonymsSALM4, A530045B06Rik
MMRRC Submission 040083-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2078 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location30355489-30362772 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 30360454 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 115 (D115E)
Ref Sequence ENSEMBL: ENSMUSP00000037616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046351]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046351
AA Change: D115E

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037616
Gene: ENSMUSG00000036957
AA Change: D115E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083048
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C A 1: 75,172,136 G55C probably damaging Het
Acss3 T C 10: 106,967,041 T448A possibly damaging Het
Atxn7 A G 14: 14,052,975 N138D probably damaging Het
Cacna2d4 A T 6: 119,338,116 D869V probably benign Het
Cps1 T G 1: 67,157,806 Y339D probably damaging Het
Cps1 T C 1: 67,195,265 I937T possibly damaging Het
Dlgap4 T C 2: 156,762,826 S261P probably damaging Het
Dusp6 T C 10: 99,263,824 Y45H probably damaging Het
Ebag9 A G 15: 44,636,804 N157S probably damaging Het
Exoc4 A G 6: 33,910,587 D770G probably benign Het
Ezr A G 17: 6,782,642 M1T probably null Het
Fat4 A G 3: 38,889,673 N905S probably damaging Het
Fcrlb C G 1: 170,908,081 R208P probably damaging Het
Flnb T C 14: 7,927,466 V1892A probably damaging Het
Gas2 G A 7: 51,897,325 V75M probably benign Het
Gda T A 19: 21,400,672 D267V probably damaging Het
Gper1 A T 5: 139,426,133 I78F probably benign Het
Hectd1 A C 12: 51,748,542 I2368S probably damaging Het
Katna1 C T 10: 7,743,569 P114S probably benign Het
Lce3c G A 3: 92,945,451 S73N unknown Het
Lrrc47 C A 4: 154,019,431 T505K probably damaging Het
Mertk C T 2: 128,794,458 T784I probably damaging Het
Mettl21e T A 1: 44,206,502 I195F possibly damaging Het
Mff T C 1: 82,741,921 S207P probably damaging Het
Mtmr6 A G 14: 60,291,987 probably null Het
Myh9 T C 15: 77,763,912 K1788R probably benign Het
Narf A G 11: 121,245,394 T199A probably benign Het
Neurod6 A G 6: 55,678,969 S228P probably benign Het
Notch4 A T 17: 34,568,715 probably null Het
Nyap2 T C 1: 81,191,981 L151P probably damaging Het
Olfr1444 T A 19: 12,862,387 V204E probably benign Het
P2ry1 A G 3: 61,003,697 I86V probably damaging Het
Pafah1b2 G T 9: 45,968,829 D183E probably damaging Het
Phldb1 T C 9: 44,707,979 E179G probably damaging Het
Piezo2 T C 18: 63,117,720 E436G probably damaging Het
Pkhd1l1 A G 15: 44,527,767 I1514V probably benign Het
Plch1 A G 3: 63,701,943 S948P probably benign Het
Rfc5 A G 5: 117,380,803 V296A probably benign Het
Rnf150 A T 8: 83,003,605 I255F probably damaging Het
Rsbn1 A G 3: 103,961,523 D626G probably damaging Het
Sfswap A G 5: 129,516,107 D346G possibly damaging Het
Slc38a11 A T 2: 65,330,384 F289I possibly damaging Het
Terf2ip A G 8: 112,015,403 N243S probably benign Het
Tmed5 A T 5: 108,124,605 V209E probably damaging Het
Tmem63b A G 17: 45,663,536 S603P possibly damaging Het
Tomm20 T C 8: 126,937,072 M121V possibly damaging Het
Tspan33 G A 6: 29,709,971 V45I probably benign Het
Usp17la A T 7: 104,859,393 M1L probably benign Het
Vsig8 C A 1: 172,563,289 D301E probably benign Het
Vwa8 T A 14: 78,908,157 H91Q probably damaging 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
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
X0064:Lrfn3 UTSW 7 30360461 missense probably benign 0.17
Z1088:Lrfn3 UTSW 7 30360201 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTGTGGTCAAGGCCCAAC -3'
(R):5'- TATTCGTACCGCCATCACTG -3'

Sequencing Primer
(F):5'- TCAAGGCCCAACGTGTTGAC -3'
(R):5'- TACCGCCATCACTGGATCG -3'
Posted On2014-09-17