Incidental Mutation 'R7638:Lrrc14'
ID 590098
Institutional Source Beutler Lab
Gene Symbol Lrrc14
Ensembl Gene ENSMUSG00000033728
Gene Name leucine rich repeat containing 14
Synonyms E130306I01Rik
MMRRC Submission 045696-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R7638 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76594820-76599297 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76598173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 301 (D301G)
Ref Sequence ENSEMBL: ENSMUSP00000115446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036423] [ENSMUST00000036852] [ENSMUST00000049956] [ENSMUST00000127208] [ENSMUST00000136840] [ENSMUST00000137649] [ENSMUST00000155735] [ENSMUST00000155225] [ENSMUST00000142610] [ENSMUST00000230544] [ENSMUST00000230724]
AlphaFold Q8VC16
Predicted Effect probably benign
Transcript: ENSMUST00000036423
AA Change: D301G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728
AA Change: D301G

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036852
SMART Domains Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

DomainStartEndE-ValueType
Pfam:Drc1-Sld2 4 132 2.8e-14 PFAM
low complexity region 169 187 N/A INTRINSIC
low complexity region 368 379 N/A INTRINSIC
ZnF_C2HC 394 410 5.67e-5 SMART
DEXDc 494 701 5.86e-28 SMART
HELICc 736 831 1.48e-24 SMART
Blast:DEXDc 902 1117 3e-46 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000049956
SMART Domains Protein: ENSMUSP00000061906
Gene: ENSMUSG00000033707

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LRRNT 30 62 1.04e-2 SMART
LRR 61 80 3.18e2 SMART
LRR_TYP 81 104 2.99e-4 SMART
LRR 106 128 3.87e1 SMART
LRR_TYP 129 152 8.22e-2 SMART
LRR_TYP 153 176 5.06e-2 SMART
LRR 177 200 2.02e-1 SMART
LRRCT 212 266 2e-10 SMART
IGc2 280 360 1.02e-9 SMART
transmembrane domain 409 431 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127208
AA Change: D301G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728
AA Change: D301G

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136840
SMART Domains Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137649
AA Change: D301G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728
AA Change: D301G

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155735
AA Change: D301G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728
AA Change: D301G

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
SCOP:d1a4ya_ 222 413 2e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142506
Predicted Effect probably benign
Transcript: ENSMUST00000155225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229360
Predicted Effect probably benign
Transcript: ENSMUST00000142610
SMART Domains Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000230544
Predicted Effect probably benign
Transcript: ENSMUST00000230724
Meta Mutation Damage Score 0.0602 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T G 2: 26,733,855 (GRCm39) T115P probably damaging Het
Aggf1 G A 13: 95,492,921 (GRCm39) R563* probably null Het
Amdhd1 A T 10: 93,370,360 (GRCm39) Y159* probably null Het
Camp T C 9: 109,677,461 (GRCm39) E124G Het
Casq2 A G 3: 101,994,016 (GRCm39) E21G possibly damaging Het
Cbln1 A T 8: 88,198,357 (GRCm39) F116Y probably damaging Het
Cklf A T 8: 104,989,996 (GRCm39) K143* probably null Het
Clca3a1 A G 3: 144,457,723 (GRCm39) I387T probably damaging Het
Cndp1 T A 18: 84,654,174 (GRCm39) D130V probably benign Het
Cyp4a12a T A 4: 115,184,670 (GRCm39) M317K possibly damaging Het
Dmxl2 A T 9: 54,365,078 (GRCm39) I138K unknown Het
Eapp A G 12: 54,720,508 (GRCm39) S236P probably benign Het
Efcab3 T A 11: 104,927,625 (GRCm39) M4798K probably benign Het
Efnb3 T C 11: 69,448,046 (GRCm39) H132R possibly damaging Het
Fam243 A G 16: 92,117,805 (GRCm39) V161A probably damaging Het
Fbn2 A T 18: 58,238,208 (GRCm39) N596K probably damaging Het
Fzd9 A G 5: 135,279,484 (GRCm39) W134R probably damaging Het
Gga2 A G 7: 121,603,157 (GRCm39) S180P probably damaging Het
Golga3 A G 5: 110,353,694 (GRCm39) T911A probably benign Het
Gstm1 C T 3: 107,921,866 (GRCm39) probably null Het
Heg1 A G 16: 33,547,867 (GRCm39) T909A probably damaging Het
Herc2 T C 7: 55,807,186 (GRCm39) S2455P probably benign Het
Herc2 C T 7: 55,870,273 (GRCm39) R4349W probably damaging Het
Hivep2 T G 10: 14,019,595 (GRCm39) M2122R possibly damaging Het
Itga10 T A 3: 96,564,707 (GRCm39) probably null Het
Kbtbd13 G T 9: 65,298,605 (GRCm39) C110* probably null Het
Krt78 T C 15: 101,859,318 (GRCm39) E293G probably damaging Het
Lgals3bp C T 11: 118,288,995 (GRCm39) V110M possibly damaging Het
Lrp2 A G 2: 69,307,352 (GRCm39) probably null Het
Lrrc71 C A 3: 87,649,113 (GRCm39) G352W probably damaging Het
Map3k9 A G 12: 81,771,506 (GRCm39) V694A probably benign Het
Mboat2 T C 12: 24,989,325 (GRCm39) S162P probably damaging Het
Megf11 C A 9: 64,586,535 (GRCm39) N422K probably damaging Het
Miga1 C T 3: 151,982,324 (GRCm39) S584N probably benign Het
Mindy2 A G 9: 70,524,141 (GRCm39) Y403H probably damaging Het
Mmd C T 11: 90,167,583 (GRCm39) A204V possibly damaging Het
Mta3 A T 17: 84,107,572 (GRCm39) Y262F probably benign Het
Ncoa7 G A 10: 30,598,794 (GRCm39) S43F probably benign Het
Nhsl3 T C 4: 129,115,734 (GRCm39) T1022A probably benign Het
Nphp4 T C 4: 152,638,991 (GRCm39) V874A probably benign Het
Nsd1 A G 13: 55,460,141 (GRCm39) T2226A probably benign Het
Nt5dc1 T C 10: 34,190,792 (GRCm39) H302R probably benign Het
Odc1 A G 12: 17,600,003 (GRCm39) Y389C probably damaging Het
Or52p2 A G 7: 102,237,125 (GRCm39) I275T probably damaging Het
Or5k8 G A 16: 58,644,958 (GRCm39) T38I probably damaging Het
Or8g37 T G 9: 39,731,189 (GRCm39) F85V probably damaging Het
Pcare T C 17: 72,057,880 (GRCm39) D599G probably damaging Het
Pcdhb10 A C 18: 37,545,365 (GRCm39) Q147P probably benign Het
Pdcl2 A C 5: 76,465,675 (GRCm39) C182G probably damaging Het
Pigv T C 4: 133,392,762 (GRCm39) D136G possibly damaging Het
Polr1h A C 17: 37,268,722 (GRCm39) probably null Het
Pramel5 T C 4: 143,998,010 (GRCm39) E411G possibly damaging Het
Prkce T C 17: 86,476,028 (GRCm39) V3A probably benign Het
Pth1r T C 9: 110,551,461 (GRCm39) N546S probably benign Het
Qrich2 C T 11: 116,346,148 (GRCm39) V1559I probably benign Het
Rbm20 A C 19: 53,802,764 (GRCm39) D424A possibly damaging Het
Rbm26 C T 14: 105,388,284 (GRCm39) D393N probably damaging Het
Sf3b3 G A 8: 111,547,445 (GRCm39) R728C probably damaging Het
Spata31e1 G T 13: 49,940,451 (GRCm39) Q420K probably benign Het
Srcap A G 7: 127,137,920 (GRCm39) N1090S probably benign Het
Syt4 A T 18: 31,576,875 (GRCm39) S160T probably benign Het
Tcstv6 A T 13: 120,304,224 (GRCm39) probably null Het
Tfap2e C T 4: 126,615,727 (GRCm39) V236M probably damaging Het
Thsd4 G A 9: 60,301,755 (GRCm39) T180M probably damaging Het
Tlr4 T A 4: 66,758,443 (GRCm39) M412K probably damaging Het
Tmem67 T A 4: 12,079,883 (GRCm39) H136L probably benign Het
Tnpo2 T A 8: 85,771,044 (GRCm39) I110N probably benign Het
Trav13d-3 A G 14: 53,270,870 (GRCm39) M111V probably benign Het
Tubb3 A T 8: 124,147,900 (GRCm39) S278C probably benign Het
Ugcg T A 4: 59,220,299 (GRCm39) F364Y probably benign Het
Usp17lc T C 7: 103,067,706 (GRCm39) S334P probably damaging Het
Vps13c A G 9: 67,852,791 (GRCm39) D2357G probably damaging Het
Zfp157 T C 5: 138,454,172 (GRCm39) Y125H probably benign Het
Zfp747 A T 7: 126,973,819 (GRCm39) M117K probably benign Het
Zscan4c A T 7: 10,743,658 (GRCm39) N419I possibly damaging Het
Other mutations in Lrrc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Lrrc14 APN 15 76,597,942 (GRCm39) missense probably damaging 0.99
IGL03213:Lrrc14 APN 15 76,597,983 (GRCm39) missense possibly damaging 0.95
Sojourn UTSW 15 76,597,646 (GRCm39) missense possibly damaging 0.91
Sumo UTSW 15 76,597,765 (GRCm39) missense probably benign 0.17
R0302:Lrrc14 UTSW 15 76,598,552 (GRCm39) missense probably benign 0.28
R2417:Lrrc14 UTSW 15 76,597,621 (GRCm39) missense probably damaging 1.00
R3423:Lrrc14 UTSW 15 76,597,318 (GRCm39) splice site probably null
R3930:Lrrc14 UTSW 15 76,597,765 (GRCm39) missense probably benign 0.17
R3931:Lrrc14 UTSW 15 76,597,765 (GRCm39) missense probably benign 0.17
R4622:Lrrc14 UTSW 15 76,600,540 (GRCm39) unclassified probably benign
R4863:Lrrc14 UTSW 15 76,597,562 (GRCm39) splice site probably null
R5290:Lrrc14 UTSW 15 76,598,143 (GRCm39) missense probably benign 0.17
R5451:Lrrc14 UTSW 15 76,598,173 (GRCm39) missense probably benign 0.01
R5950:Lrrc14 UTSW 15 76,599,510 (GRCm39) unclassified probably benign
R6561:Lrrc14 UTSW 15 76,597,646 (GRCm39) missense possibly damaging 0.91
R6609:Lrrc14 UTSW 15 76,598,453 (GRCm39) missense probably benign
R7341:Lrrc14 UTSW 15 76,598,711 (GRCm39) missense probably damaging 1.00
R8046:Lrrc14 UTSW 15 76,598,731 (GRCm39) missense possibly damaging 0.78
R8223:Lrrc14 UTSW 15 76,598,756 (GRCm39) missense probably damaging 1.00
R8393:Lrrc14 UTSW 15 76,598,398 (GRCm39) missense probably damaging 1.00
R8707:Lrrc14 UTSW 15 76,597,416 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AATAACCTGGGCTTGCGTGG -3'
(R):5'- AGAACTCTGAGCCAGGAAGC -3'

Sequencing Primer
(F):5'- GCGTGGCCTGTCTGTCATTATC -3'
(R):5'- CAGGAAGCGTAGGTCCTCAG -3'
Posted On 2019-10-24