Incidental Mutation 'R5100:Lrit1'
ID 388234
Institutional Source Beutler Lab
Gene Symbol Lrit1
Ensembl Gene ENSMUSG00000041044
Gene Name leucine-rich repeat, immunoglobulin-like and transmembrane domains 1
Synonyms Lrrc21
MMRRC Submission 042689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5100 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 36776787-36786903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36784171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 500 (C500S)
Ref Sequence ENSEMBL: ENSMUSP00000113964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120052]
AlphaFold Q8K099
Predicted Effect possibly damaging
Transcript: ENSMUST00000120052
AA Change: C500S

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: C500S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRRNT 22 63 1.97e-3 SMART
LRR 82 105 1.03e1 SMART
LRR 106 129 3e1 SMART
LRR 130 152 1.12e1 SMART
LRR_TYP 154 177 4.47e-3 SMART
LRRCT 201 253 2.04e-7 SMART
IGc2 267 336 6.55e-8 SMART
FN3 429 506 2.22e0 SMART
transmembrane domain 531 553 N/A INTRINSIC
low complexity region 581 595 N/A INTRINSIC
low complexity region 597 608 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired synaptic communication of cone photoreceptors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,057,477 (GRCm39) M774K probably damaging Het
Adamts3 G A 5: 89,856,502 (GRCm39) T357I probably damaging Het
Ap3m2 T A 8: 23,279,404 (GRCm39) M408L probably benign Het
Apaf1 A T 10: 90,833,149 (GRCm39) N1116K probably benign Het
Arhgap31 A T 16: 38,421,821 (GRCm39) I1415N probably damaging Het
Arhgef17 A T 7: 100,530,963 (GRCm39) D1374E possibly damaging Het
Asxl1 C G 2: 153,239,851 (GRCm39) N546K probably damaging Het
Cobll1 T A 2: 64,956,245 (GRCm39) T337S probably benign Het
Depdc1a A T 3: 159,221,157 (GRCm39) I163L probably benign Het
Flrt3 T A 2: 140,513,304 (GRCm39) probably null Het
Foxn4 A T 5: 114,394,820 (GRCm39) L369H possibly damaging Het
Gm11992 T C 11: 9,011,290 (GRCm39) S244P probably damaging Het
Gm14412 C T 2: 177,006,908 (GRCm39) C329Y probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm5113 G A 7: 29,878,076 (GRCm39) V55M probably damaging Het
Grhl3 A G 4: 135,269,986 (GRCm39) I599T probably benign Het
H2-Q6 G C 17: 35,644,296 (GRCm39) E93Q probably benign Het
Hk3 T C 13: 55,156,843 (GRCm39) T570A probably damaging Het
Hspb8 T C 5: 116,553,468 (GRCm39) I143M probably damaging Het
Kif15 A G 9: 122,821,059 (GRCm39) T655A probably damaging Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Macf1 A C 4: 123,368,261 (GRCm39) C602G probably benign Het
Mesd C T 7: 83,546,977 (GRCm39) R147C probably damaging Het
Mfge8 A T 7: 78,793,048 (GRCm39) D139E probably benign Het
Ncoa3 G A 2: 165,892,017 (GRCm39) R131Q probably damaging Het
Ncoa5 A G 2: 164,851,309 (GRCm39) I188T probably damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nhlrc1 T C 13: 47,167,897 (GRCm39) H120R probably benign Het
Otos T A 1: 92,572,107 (GRCm39) H73L probably damaging Het
Pcsk5 C T 19: 17,492,499 (GRCm39) probably null Het
Phc3 T C 3: 30,976,348 (GRCm39) E740G possibly damaging Het
Pla2g7 T C 17: 43,922,267 (GRCm39) L382P probably damaging Het
Plcd3 C A 11: 102,969,175 (GRCm39) R264L probably benign Het
Pms2 A G 5: 143,865,006 (GRCm39) D696G probably damaging Het
Ptchd4 A T 17: 42,814,567 (GRCm39) I823F possibly damaging Het
Scn9a T C 2: 66,364,463 (GRCm39) R828G probably damaging Het
Spred2 T A 11: 19,971,291 (GRCm39) C386* probably null Het
Terb1 A T 8: 105,221,805 (GRCm39) L165* probably null Het
Tgm2 A T 2: 157,969,084 (GRCm39) S430R probably benign Het
Tnxb A T 17: 34,929,902 (GRCm39) I2879F probably damaging Het
Trpm3 T G 19: 22,896,130 (GRCm39) V977G probably damaging Het
Wnt5b A C 6: 119,417,449 (GRCm39) S139A probably benign Het
Zfp820 C A 17: 22,040,054 (GRCm39) V52L possibly damaging Het
Zfyve26 T A 12: 79,326,832 (GRCm39) R764* probably null Het
Other mutations in Lrit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Lrit1 APN 14 36,782,112 (GRCm39) missense probably damaging 0.98
IGL01676:Lrit1 APN 14 36,779,394 (GRCm39) missense probably damaging 1.00
IGL02011:Lrit1 APN 14 36,784,280 (GRCm39) missense probably damaging 1.00
PIT4142001:Lrit1 UTSW 14 36,783,998 (GRCm39) missense probably damaging 1.00
R0194:Lrit1 UTSW 14 36,783,677 (GRCm39) missense probably damaging 1.00
R0348:Lrit1 UTSW 14 36,782,182 (GRCm39) missense probably damaging 1.00
R1444:Lrit1 UTSW 14 36,783,928 (GRCm39) missense probably benign
R1500:Lrit1 UTSW 14 36,784,091 (GRCm39) missense probably benign 0.23
R1884:Lrit1 UTSW 14 36,783,710 (GRCm39) missense possibly damaging 0.94
R2880:Lrit1 UTSW 14 36,779,394 (GRCm39) missense probably damaging 1.00
R4784:Lrit1 UTSW 14 36,784,193 (GRCm39) missense possibly damaging 0.79
R4855:Lrit1 UTSW 14 36,783,773 (GRCm39) missense possibly damaging 0.75
R5365:Lrit1 UTSW 14 36,784,099 (GRCm39) missense probably benign 0.00
R5474:Lrit1 UTSW 14 36,783,943 (GRCm39) missense probably benign
R5475:Lrit1 UTSW 14 36,776,958 (GRCm39) missense probably benign 0.00
R5614:Lrit1 UTSW 14 36,783,911 (GRCm39) missense probably benign 0.39
R5688:Lrit1 UTSW 14 36,784,385 (GRCm39) missense possibly damaging 0.66
R5926:Lrit1 UTSW 14 36,776,966 (GRCm39) missense probably damaging 1.00
R6063:Lrit1 UTSW 14 36,776,945 (GRCm39) missense probably benign 0.05
R6920:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6940:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6941:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6943:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6945:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6957:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6958:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6959:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6960:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6962:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R7784:Lrit1 UTSW 14 36,783,737 (GRCm39) missense probably benign
R8124:Lrit1 UTSW 14 36,784,005 (GRCm39) missense probably benign 0.06
R8952:Lrit1 UTSW 14 36,783,664 (GRCm39) missense probably damaging 1.00
R9106:Lrit1 UTSW 14 36,776,891 (GRCm39) missense unknown
R9297:Lrit1 UTSW 14 36,783,993 (GRCm39) missense probably damaging 1.00
R9425:Lrit1 UTSW 14 36,784,208 (GRCm39) missense possibly damaging 0.89
R9712:Lrit1 UTSW 14 36,782,084 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCACAGTGTGTCTTTGGTG -3'
(R):5'- CTTTCCAAATTAACATAGGCCCCAG -3'

Sequencing Primer
(F):5'- TGTGGAAGGCCCCTCAAG -3'
(R):5'- CACTTGTGGCAGCGTCTTCG -3'
Posted On 2016-06-06