Incidental Mutation 'R5505:Lrit3'
ID 430872
Institutional Source Beutler Lab
Gene Symbol Lrit3
Ensembl Gene ENSMUSG00000093865
Gene Name leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
Synonyms LOC242235
MMRRC Submission 043066-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5505 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 129581530-129597679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129585087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 224 (V224I)
Ref Sequence ENSEMBL: ENSMUSP00000140184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179187] [ENSMUST00000185462]
AlphaFold W8DXL4
Predicted Effect possibly damaging
Transcript: ENSMUST00000179187
AA Change: V224I

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136912
Gene: ENSMUSG00000093865
AA Change: V224I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 20 61 2.7e-1 SMART
LRR 80 103 6.96e0 SMART
LRR 104 127 3.27e1 SMART
LRR_TYP 128 151 4.47e-3 SMART
LRR_TYP 152 175 7.37e-4 SMART
LRRCT 201 252 4.65e-2 SMART
Blast:IG 260 297 9e-13 BLAST
low complexity region 298 311 N/A INTRINSIC
FN3 364 443 1.85e0 SMART
transmembrane domain 462 484 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000185462
AA Change: V224I

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140184
Gene: ENSMUSG00000093865
AA Change: V224I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 20 61 1.3e-3 SMART
LRR 80 103 2.9e-2 SMART
LRR 104 127 1.4e-1 SMART
LRR_TYP 128 151 1.9e-5 SMART
LRR_TYP 152 175 3.2e-6 SMART
LRRCT 201 252 2.3e-4 SMART
IGc2 266 335 4.7e-11 SMART
low complexity region 340 352 N/A INTRINSIC
low complexity region 362 376 N/A INTRINSIC
low complexity region 408 432 N/A INTRINSIC
FN3 485 564 9e-3 SMART
transmembrane domain 583 605 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188978
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.9%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a targeted allele show a selective absence of the ERG b-wave with a normal a-wave component under scotopic conditions, as well as variable ERG responses with larger a-wave amplitudes, shorter b-wave amplitudes, and longer implicit times of both waves under photopic conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T A 5: 24,606,036 (GRCm39) D240E probably damaging Het
Alpk3 G A 7: 80,728,309 (GRCm39) E480K possibly damaging Het
Arhgap20 A G 9: 51,750,248 (GRCm39) E372G probably damaging Het
Atp23 G T 10: 126,723,499 (GRCm39) A201D probably damaging Het
Bpifb1 A G 2: 154,046,699 (GRCm39) D73G probably benign Het
Ccdc7a A G 8: 129,706,655 (GRCm39) S325P possibly damaging Het
Cckar A G 5: 53,860,410 (GRCm39) Y140H probably damaging Het
Cd46 A T 1: 194,767,688 (GRCm39) D124E possibly damaging Het
Cep290 T C 10: 100,335,048 (GRCm39) probably null Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Eif2ak1 T C 5: 143,803,745 (GRCm39) S34P probably benign Het
Enah T A 1: 181,734,018 (GRCm39) probably benign Het
Gad2 C G 2: 22,514,845 (GRCm39) L108V probably benign Het
Gpr22 T C 12: 31,759,724 (GRCm39) I133V probably damaging Het
Hdac4 T C 1: 91,903,187 (GRCm39) T13A probably benign Het
Ighv1-4 A G 12: 114,451,057 (GRCm39) V17A possibly damaging Het
Ints8 T A 4: 11,221,143 (GRCm39) Q744L probably benign Het
Mgat4a T C 1: 37,535,035 (GRCm39) I108V probably benign Het
Mmp9 T C 2: 164,795,528 (GRCm39) I682T probably benign Het
Myh7b G A 2: 155,474,592 (GRCm39) A1742T probably benign Het
Nlrp12 C T 7: 3,298,015 (GRCm39) G52D probably damaging Het
Or5t9 T C 2: 86,659,845 (GRCm39) F250L possibly damaging Het
Pcnx1 T C 12: 81,996,927 (GRCm39) L941P probably damaging Het
Pla2g4e T C 2: 120,075,256 (GRCm39) R45G probably benign Het
Plcz1 C G 6: 139,961,942 (GRCm39) G203A probably damaging Het
Poldip2 A G 11: 78,406,001 (GRCm39) T76A probably benign Het
Prdm15 T A 16: 97,618,183 (GRCm39) H325L possibly damaging Het
Ralyl A T 3: 13,841,980 (GRCm39) I39F probably damaging Het
Rnf220 A C 4: 117,153,288 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,409,102 (GRCm39) K318E probably damaging Het
Rsbn1 T A 3: 103,836,259 (GRCm39) N432K probably damaging Het
Sh3yl1 T A 12: 30,992,072 (GRCm39) Y176N probably damaging Het
Slc25a30 G A 14: 76,000,789 (GRCm39) L272F probably damaging Het
Spag1 T C 15: 36,234,772 (GRCm39) V844A probably damaging Het
Srsf5 T C 12: 80,995,857 (GRCm39) probably benign Het
Tle2 T A 10: 81,417,574 (GRCm39) D223E probably benign Het
Tmem192 A G 8: 65,416,898 (GRCm39) E39G possibly damaging Het
Trpc6 T A 9: 8,626,736 (GRCm39) L362H probably damaging Het
Tuba4a A G 1: 75,193,060 (GRCm39) Y185H probably damaging Het
Uba6 A G 5: 86,268,405 (GRCm39) V941A probably benign Het
Vmn2r35 A T 7: 7,789,479 (GRCm39) Y753N probably damaging Het
Zfp941 C T 7: 140,391,830 (GRCm39) V510I probably benign Het
Other mutations in Lrit3
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:Lrit3 UTSW 3 129,582,468 (GRCm39) small insertion probably benign
FR4340:Lrit3 UTSW 3 129,582,457 (GRCm39) small insertion probably benign
FR4548:Lrit3 UTSW 3 129,582,465 (GRCm39) small insertion probably benign
FR4548:Lrit3 UTSW 3 129,582,462 (GRCm39) small insertion probably benign
FR4589:Lrit3 UTSW 3 129,597,562 (GRCm39) frame shift probably null
FR4737:Lrit3 UTSW 3 129,597,562 (GRCm39) frame shift probably null
FR4737:Lrit3 UTSW 3 129,582,459 (GRCm39) small insertion probably benign
FR4737:Lrit3 UTSW 3 129,582,455 (GRCm39) small insertion probably benign
FR4976:Lrit3 UTSW 3 129,597,559 (GRCm39) unclassified probably benign
R0555:Lrit3 UTSW 3 129,584,945 (GRCm39) missense probably damaging 1.00
R0629:Lrit3 UTSW 3 129,581,951 (GRCm39) missense probably damaging 1.00
R0631:Lrit3 UTSW 3 129,582,204 (GRCm39) missense probably damaging 1.00
R1690:Lrit3 UTSW 3 129,594,394 (GRCm39) missense probably damaging 0.99
R1902:Lrit3 UTSW 3 129,584,895 (GRCm39) missense probably benign 0.17
R1955:Lrit3 UTSW 3 129,594,130 (GRCm39) missense probably benign 0.11
R3155:Lrit3 UTSW 3 129,585,044 (GRCm39) missense probably benign 0.00
R4005:Lrit3 UTSW 3 129,585,021 (GRCm39) missense probably benign 0.14
R4445:Lrit3 UTSW 3 129,582,180 (GRCm39) nonsense probably null
R4675:Lrit3 UTSW 3 129,582,121 (GRCm39) missense probably damaging 1.00
R5104:Lrit3 UTSW 3 129,582,040 (GRCm39) missense possibly damaging 0.86
R5147:Lrit3 UTSW 3 129,597,574 (GRCm39) missense possibly damaging 0.78
R5271:Lrit3 UTSW 3 129,581,950 (GRCm39) missense probably damaging 1.00
R5587:Lrit3 UTSW 3 129,582,547 (GRCm39) missense probably benign 0.25
R6056:Lrit3 UTSW 3 129,583,004 (GRCm39) missense probably damaging 1.00
R6239:Lrit3 UTSW 3 129,593,995 (GRCm39) missense probably damaging 0.98
R6280:Lrit3 UTSW 3 129,582,412 (GRCm39) missense probably damaging 0.99
R6305:Lrit3 UTSW 3 129,594,109 (GRCm39) missense probably damaging 0.98
R6441:Lrit3 UTSW 3 129,594,009 (GRCm39) missense probably benign
R6947:Lrit3 UTSW 3 129,582,883 (GRCm39) missense probably benign 0.01
R6949:Lrit3 UTSW 3 129,582,934 (GRCm39) missense probably damaging 1.00
R7850:Lrit3 UTSW 3 129,594,452 (GRCm39) missense probably damaging 1.00
R8157:Lrit3 UTSW 3 129,594,284 (GRCm39) missense probably benign 0.00
R8405:Lrit3 UTSW 3 129,582,301 (GRCm39) missense probably benign 0.26
R8896:Lrit3 UTSW 3 129,585,132 (GRCm39) missense probably damaging 1.00
R8937:Lrit3 UTSW 3 129,594,193 (GRCm39) missense probably damaging 1.00
R9794:Lrit3 UTSW 3 129,594,073 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACCCTTGGCATCACATC -3'
(R):5'- TGGCTTTTAACATGCCGGTG -3'

Sequencing Primer
(F):5'- TTGGCATCACATCTCAGCAG -3'
(R):5'- AACATGCCGGTGACTGTATC -3'
Posted On 2016-10-05