Incidental Mutation 'R0278:Lhfpl2'
ID 24488
Institutional Source Beutler Lab
Gene Symbol Lhfpl2
Ensembl Gene ENSMUSG00000045312
Gene Name lipoma HMGIC fusion partner-like 2
Synonyms vgim
MMRRC Submission 038500-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R0278 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 94194304-94331917 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94310943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 71 (V71A)
Ref Sequence ENSEMBL: ENSMUSP00000152241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054274] [ENSMUST00000118195] [ENSMUST00000120051] [ENSMUST00000121618] [ENSMUST00000156071] [ENSMUST00000223423] [ENSMUST00000221096]
AlphaFold Q8BGA2
Predicted Effect probably benign
Transcript: ENSMUST00000054274
AA Change: V71A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062239
Gene: ENSMUSG00000045312
AA Change: V71A

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 9 198 2.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118195
AA Change: V71A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112655
Gene: ENSMUSG00000045312
AA Change: V71A

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 9 198 2.4e-59 PFAM
Pfam:Claudin_2 16 197 3.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120051
Predicted Effect probably benign
Transcript: ENSMUST00000121618
AA Change: V71A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113468
Gene: ENSMUSG00000045312
AA Change: V71A

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 9 198 2.4e-59 PFAM
Pfam:Claudin_2 16 197 3.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131595
Predicted Effect probably benign
Transcript: ENSMUST00000156071
AA Change: V71A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117113
Gene: ENSMUSG00000045312
AA Change: V71A

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 9 139 2.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223423
AA Change: V71A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000221096
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.4%
  • 20x: 90.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females homozygous for a spontaneous point mutation have a completely closed vagina, soft swelling of the perineum and buildup of viscous fluid in the uteri. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,215 (GRCm39) S3429R probably damaging Het
Abca3 A G 17: 24,600,894 (GRCm39) D436G probably benign Het
Acacb C A 5: 114,371,320 (GRCm39) Y1816* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Adgre1 A G 17: 57,754,872 (GRCm39) I657V probably benign Het
Akap1 A G 11: 88,736,020 (GRCm39) V214A probably benign Het
Ankrd42 T C 7: 92,280,865 (GRCm39) R22G possibly damaging Het
Apc2 C T 10: 80,148,647 (GRCm39) P1234S possibly damaging Het
Atp13a4 A G 16: 29,273,652 (GRCm39) I441T probably damaging Het
Cenpu G A 8: 47,031,344 (GRCm39) A242T probably damaging Het
Col6a6 A T 9: 105,644,487 (GRCm39) V1267E possibly damaging Het
Crhr2 T C 6: 55,094,516 (GRCm39) T58A probably benign Het
Ddx6 T G 9: 44,542,722 (GRCm39) C385G probably damaging Het
Dnah7a A T 1: 53,543,305 (GRCm39) N2288K probably benign Het
Egfl8 A T 17: 34,833,342 (GRCm39) probably null Het
Elmo2 A T 2: 165,139,287 (GRCm39) I420N probably damaging Het
Elovl4 A G 9: 83,665,248 (GRCm39) F113L probably benign Het
Fancd2 T A 6: 113,525,409 (GRCm39) probably null Het
Fbxl13 A G 5: 21,728,908 (GRCm39) V456A probably benign Het
Fgfr2 A T 7: 129,863,592 (GRCm39) probably null Het
Fkbpl A T 17: 34,864,384 (GRCm39) R51* probably null Het
Fn3krp G A 11: 121,312,406 (GRCm39) V40M probably damaging Het
Fnip1 A G 11: 54,380,169 (GRCm39) probably null Het
Gm15446 A T 5: 110,091,281 (GRCm39) Q511L probably benign Het
Gm7334 A G 17: 51,006,289 (GRCm39) K192E probably damaging Het
H2-Q10 A T 17: 35,784,204 (GRCm39) T282S possibly damaging Het
Hspa9 A G 18: 35,073,963 (GRCm39) V482A possibly damaging Het
Ica1l A T 1: 60,053,155 (GRCm39) S128T probably benign Het
Il7r A T 15: 9,516,423 (GRCm39) I126K probably damaging Het
Kcnj8 T C 6: 142,516,074 (GRCm39) E11G probably benign Het
Klkb1 A C 8: 45,725,446 (GRCm39) F498V probably benign Het
Lama1 A G 17: 68,117,178 (GRCm39) E2491G probably null Het
Lin9 T C 1: 180,493,488 (GRCm39) I198T probably damaging Het
Lrrc7 T A 3: 157,885,432 (GRCm39) M431L possibly damaging Het
Nmt2 A G 2: 3,326,424 (GRCm39) T519A probably benign Het
Or10w1 C A 19: 13,632,128 (GRCm39) L112I probably damaging Het
Or10w1 T A 19: 13,632,129 (GRCm39) L112H probably damaging Het
Or1d2 T C 11: 74,256,028 (GRCm39) F178L probably damaging Het
Or4a74 G T 2: 89,440,108 (GRCm39) L113M probably damaging Het
Or4a74 A T 2: 89,440,107 (GRCm39) L113Q probably damaging Het
Or5al7 A T 2: 85,992,923 (GRCm39) Y123* probably null Het
Or7h8 G T 9: 20,124,182 (GRCm39) C179F probably damaging Het
Parp4 A G 14: 56,844,980 (GRCm39) R624G probably damaging Het
Pex16 C T 2: 92,211,401 (GRCm39) P325S probably damaging Het
Pik3ca T C 3: 32,493,902 (GRCm39) M288T possibly damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Prss43 T A 9: 110,656,430 (GRCm39) M39K probably benign Het
Psd4 T C 2: 24,284,450 (GRCm39) S105P probably damaging Het
Ptprz1 T A 6: 23,000,816 (GRCm39) S969T probably benign Het
Rad23b T A 4: 55,383,575 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rpl10l A G 12: 66,331,130 (GRCm39) M1T probably null Het
Sec16a A G 2: 26,318,328 (GRCm39) S1588P probably damaging Het
Sh3rf1 A T 8: 61,827,052 (GRCm39) H602L probably damaging Het
Sparcl1 A T 5: 104,236,263 (GRCm39) S497T probably benign Het
Spata13 A G 14: 60,929,537 (GRCm39) Y365C probably benign Het
Trim5 T C 7: 103,928,882 (GRCm39) N20D probably benign Het
Vmn1r201 G T 13: 22,659,194 (GRCm39) W136L probably damaging Het
Vmn2r112 A G 17: 22,821,987 (GRCm39) I222V probably benign Het
Vmn2r56 A T 7: 12,449,644 (GRCm39) V198D probably damaging Het
Wapl A G 14: 34,414,569 (GRCm39) D477G possibly damaging Het
Zfp202 C A 9: 40,119,778 (GRCm39) H194N probably benign Het
Zfp212 C T 6: 47,903,453 (GRCm39) R13W probably damaging Het
Other mutations in Lhfpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02106:Lhfpl2 APN 13 94,328,419 (GRCm39) missense probably benign 0.00
IGL02576:Lhfpl2 APN 13 94,310,734 (GRCm39) start codon destroyed probably null 1.00
R0482:Lhfpl2 UTSW 13 94,311,118 (GRCm39) missense probably damaging 1.00
R1134:Lhfpl2 UTSW 13 94,310,760 (GRCm39) missense probably damaging 1.00
R2130:Lhfpl2 UTSW 13 94,328,557 (GRCm39) missense possibly damaging 0.91
R2302:Lhfpl2 UTSW 13 94,311,054 (GRCm39) missense probably benign 0.00
R2995:Lhfpl2 UTSW 13 94,310,966 (GRCm39) missense probably benign 0.04
R6613:Lhfpl2 UTSW 13 94,311,003 (GRCm39) missense probably damaging 1.00
R6922:Lhfpl2 UTSW 13 94,311,029 (GRCm39) missense probably damaging 1.00
R9347:Lhfpl2 UTSW 13 94,328,539 (GRCm39) missense probably damaging 0.99
R9480:Lhfpl2 UTSW 13 94,310,733 (GRCm39) start codon destroyed probably null 1.00
Predicted Primers PCR Primer
(F):5'- CTTTCTGGATTGACCCAGTGGACTC -3'
(R):5'- TTGCACGCACATGGTGAAGACG -3'

Sequencing Primer
(F):5'- CACCGTGAACATCAATATGTGTC -3'
(R):5'- CACATGGTGAAGACGGACAC -3'
Posted On 2013-04-16