Incidental Mutation 'D4216:Frmpd2'
| ID |
231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd2
|
| Ensembl Gene |
ENSMUSG00000108841 |
| Gene Name |
FERM and PDZ domain containing 2 |
| Synonyms |
LOC268729, ENSMUSG00000071536, Frmpd2, LOC380890, Gm626 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
D4216 (G3)
of strain
honey
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
33193653-33297226 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33274014 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1085
(F1085L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000208577]
|
| AlphaFold |
A0A140LI67 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207581
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208577
AA Change: F1085L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
68% (27/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Fbxo33 |
A |
T |
12: 59,252,836 (GRCm39) |
V221E |
probably benign |
Het |
| Kcnrg |
T |
G |
14: 61,849,242 (GRCm39) |
Y234* |
probably null |
Homo |
| Mrgpra6 |
T |
A |
7: 46,838,504 (GRCm39) |
L231F |
probably damaging |
Het |
| Naca |
T |
C |
10: 127,880,109 (GRCm39) |
S1714P |
possibly damaging |
Homo |
| Rapgef6 |
T |
C |
11: 54,559,572 (GRCm39) |
|
probably benign |
Homo |
| Ric8b |
T |
C |
10: 84,851,005 (GRCm39) |
L546P |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,222,839 (GRCm39) |
T310A |
probably benign |
Homo |
| Ssc5d |
C |
T |
7: 4,946,982 (GRCm39) |
T1112I |
possibly damaging |
Homo |
| Stau1 |
A |
G |
2: 166,791,670 (GRCm39) |
V489A |
probably benign |
Homo |
|
| Other mutations in Frmpd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4304:Frmpd2
|
UTSW |
14 |
33,232,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4340:Frmpd2
|
UTSW |
14 |
33,232,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4342:Frmpd2
|
UTSW |
14 |
33,232,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4589:Frmpd2
|
UTSW |
14 |
33,232,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Frmpd2
|
UTSW |
14 |
33,244,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6266:Frmpd2
|
UTSW |
14 |
33,287,864 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6562:Frmpd2
|
UTSW |
14 |
33,293,872 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7138:Frmpd2
|
UTSW |
14 |
33,293,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7220:Frmpd2
|
UTSW |
14 |
33,229,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Frmpd2
|
UTSW |
14 |
33,274,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7269:Frmpd2
|
UTSW |
14 |
33,244,838 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7412:Frmpd2
|
UTSW |
14 |
33,293,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7432:Frmpd2
|
UTSW |
14 |
33,229,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7635:Frmpd2
|
UTSW |
14 |
33,222,920 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7699:Frmpd2
|
UTSW |
14 |
33,264,895 (GRCm39) |
missense |
probably benign |
|
|
R7938:Frmpd2
|
UTSW |
14 |
33,260,246 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7940:Frmpd2
|
UTSW |
14 |
33,276,850 (GRCm39) |
nonsense |
probably null |
|
|
R8134:Frmpd2
|
UTSW |
14 |
33,227,452 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8152:Frmpd2
|
UTSW |
14 |
33,265,244 (GRCm39) |
splice site |
probably null |
|
|
R8232:Frmpd2
|
UTSW |
14 |
33,261,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Frmpd2
|
UTSW |
14 |
33,224,934 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8304:Frmpd2
|
UTSW |
14 |
33,274,066 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8326:Frmpd2
|
UTSW |
14 |
33,232,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8410:Frmpd2
|
UTSW |
14 |
33,217,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8851:Frmpd2
|
UTSW |
14 |
33,217,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8907:Frmpd2
|
UTSW |
14 |
33,248,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Frmpd2
|
UTSW |
14 |
33,252,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9428:Frmpd2
|
UTSW |
14 |
33,272,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9468:Frmpd2
|
UTSW |
14 |
33,266,432 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9502:Frmpd2
|
UTSW |
14 |
33,227,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Frmpd2
|
UTSW |
14 |
33,252,462 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Frmpd2
|
UTSW |
14 |
33,252,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Frmpd2
|
UTSW |
14 |
33,252,408 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Frmpd2
|
UTSW |
14 |
33,264,983 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a T to A transversion at position 3552 of the Gm626 transcript in exon 7 of 25 total exons. The mutated nucleotide causes a phenylalanine to leucine substitution at amino acid 1047 of the encoded protein (isoform 2). The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The predicted Gm626 gene encodes a putative 1293 amino acid protein with a kinase non-catalytic C-lobe domain (KIND) at residues 6-188, the plasma-membrane binding B41 and FERM domains at residues 330-634, and three PDZ domains at residues 768-845, 942-1019 and 1071-1151 ( SMART). Human FRMPD2 has been implicated in the formation of tight junctions. The second PDZ domain has been shown to bind to catenin-like proteins.
The F1047L change occurs in the last PDZ domain, and is predicted to be probably damaging by the PolyPhen program. |
| Posted On |
2010-06-23 |
Incidental Mutation