Incidental Mutation 'R6945:Lrit1'
ID 540855
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 045059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R6945 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 36776787-36786903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 36782052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 242 (V242L)
Ref Sequence ENSEMBL: ENSMUSP00000113964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120052]
AlphaFold Q8K099
Predicted Effect probably damaging
Transcript: ENSMUST00000120052
AA Change: V242L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: V242L

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
Meta Mutation Damage Score 0.1859 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T A 16: 20,218,759 (GRCm39) T208S probably benign Het
Acaa2 A G 18: 74,926,380 (GRCm39) E112G probably benign Het
Adgrb1 A G 15: 74,421,873 (GRCm39) N881S probably damaging Het
Adgre1 A G 17: 57,717,844 (GRCm39) E314G probably benign Het
Adgre1 A G 17: 57,727,399 (GRCm39) E443G probably benign Het
Akp3 A G 1: 87,053,353 (GRCm39) Y102C probably damaging Het
Birc6 A G 17: 74,886,526 (GRCm39) N618S probably benign Het
Bpifc A G 10: 85,815,078 (GRCm39) V296A probably benign Het
Cacna2d3 G A 14: 28,691,275 (GRCm39) probably benign Het
Cacnb4 T C 2: 52,364,966 (GRCm39) N99S probably damaging Het
Cd38 A G 5: 44,065,348 (GRCm39) Y283C probably damaging Het
Celf4 T A 18: 25,629,293 (GRCm39) Q411L probably damaging Het
Cemip A T 7: 83,647,755 (GRCm39) H108Q probably damaging Het
Col23a1 A G 11: 51,452,720 (GRCm39) E225G unknown Het
Dnah11 T C 12: 118,024,045 (GRCm39) E1902G probably damaging Het
Dst A G 1: 34,229,571 (GRCm39) D2063G probably damaging Het
Fsip2 A T 2: 82,823,184 (GRCm39) I6306L probably benign Het
Furin A G 7: 80,040,838 (GRCm39) S667P possibly damaging Het
Glmp T A 3: 88,233,139 (GRCm39) S92R probably benign Het
Gm11563 C G 11: 99,549,298 (GRCm39) C152S unknown Het
Gm3486 A G 14: 41,206,518 (GRCm39) V185A probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Hyal1 C A 9: 107,456,369 (GRCm39) A102E probably damaging Het
Invs T C 4: 48,421,785 (GRCm39) C806R probably benign Het
L1td1 T C 4: 98,621,933 (GRCm39) V165A probably benign Het
Lama1 A G 17: 68,120,861 (GRCm39) T2666A Het
Lrrc8a A G 2: 30,146,239 (GRCm39) Y351C probably damaging Het
Myh7b T C 2: 155,464,152 (GRCm39) F551S possibly damaging Het
Myo19 A G 11: 84,788,386 (GRCm39) T333A probably benign Het
Nrp2 A T 1: 62,799,947 (GRCm39) N387I probably damaging Het
Oas2 T C 5: 120,874,204 (GRCm39) D543G probably benign Het
Or2g25 A G 17: 37,970,405 (GRCm39) I273T possibly damaging Het
Or5al6 A G 2: 85,976,428 (GRCm39) S217P probably damaging Het
Pak5 A G 2: 135,942,859 (GRCm39) V427A probably benign Het
Pfas G A 11: 68,891,356 (GRCm39) A247V probably benign Het
Pramel52-ps C T 5: 94,531,490 (GRCm39) H125Y possibly damaging Het
Psat1 T A 19: 15,894,545 (GRCm39) T115S probably benign Het
Psme4 T A 11: 30,787,437 (GRCm39) D1077E probably benign Het
Rabgap1l A G 1: 160,509,752 (GRCm39) S442P probably benign Het
Ralgapa1 A G 12: 55,822,976 (GRCm39) M280T possibly damaging Het
Rb1cc1 A T 1: 6,331,256 (GRCm39) E394D probably damaging Het
Seh1l T C 18: 67,922,460 (GRCm39) V271A probably benign Het
Sf3b1 A T 1: 55,036,315 (GRCm39) N919K probably benign Het
Sftpd A G 14: 40,896,449 (GRCm39) S245P possibly damaging Het
Slc22a15 T C 3: 101,831,430 (GRCm39) E2G probably damaging Het
Spta1 A G 1: 174,036,891 (GRCm39) D1134G possibly damaging Het
Syna A G 5: 134,587,815 (GRCm39) V378A probably damaging Het
Tchp A G 5: 114,847,411 (GRCm39) K77E possibly damaging Het
Tescl T C 7: 24,032,956 (GRCm39) N123S probably benign Het
Trio C T 15: 27,824,176 (GRCm39) R1443Q probably damaging Het
Trrap A T 5: 144,727,665 (GRCm39) Y462F possibly damaging Het
Vmn1r78 A G 7: 11,886,832 (GRCm39) T148A probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp1007 A C 5: 109,824,711 (GRCm39) N246K probably benign 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
R5100:Lrit1 UTSW 14 36,784,171 (GRCm39) missense possibly damaging 0.74
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
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'- TTCTTCCCAGAGGAGAAATGGAG -3'
(R):5'- CACTTGGTTGCTCACACACC -3'

Sequencing Primer
(F):5'- CTGGTTCTGAAGATCTGAGGTTAACC -3'
(R):5'- ACACCTGTGCCATTGAGTG -3'
Posted On 2018-11-28