Incidental Mutation 'R3756:Lrch4'
ID |
271434 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrch4
|
Ensembl Gene |
ENSMUSG00000093445 |
Gene Name |
leucine-rich repeats and calponin homology (CH) domain containing 4 |
Synonyms |
LRRN4, LRN, 2810008P14Rik, 2900069C24Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R3756 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137627385-137639361 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 137635992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 348
(D348E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031734]
[ENSMUST00000166099]
[ENSMUST00000175968]
[ENSMUST00000176011]
[ENSMUST00000176667]
[ENSMUST00000177545]
[ENSMUST00000177466]
[ENSMUST00000177477]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031734
AA Change: D348E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031734 Gene: ENSMUSG00000093445 AA Change: D348E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
LRR
|
90 |
112 |
4.84e1 |
SMART |
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
LRR
|
158 |
180 |
2.63e0 |
SMART |
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
LRR
|
226 |
249 |
3.98e1 |
SMART |
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
CH
|
533 |
642 |
9.24e-15 |
SMART |
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166099
|
SMART Domains |
Protein: ENSMUSP00000127076 Gene: ENSMUSG00000079165
Domain | Start | End | E-Value | Type |
Pfam:SAP25
|
76 |
261 |
1.8e-77 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000175968
AA Change: D294E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134767 Gene: ENSMUSG00000093445 AA Change: D294E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
LRR
|
36 |
58 |
4.84e1 |
SMART |
LRR_TYP
|
59 |
82 |
4.61e-5 |
SMART |
LRR
|
104 |
126 |
2.63e0 |
SMART |
LRR_TYP
|
127 |
150 |
1.1e-2 |
SMART |
LRR
|
172 |
195 |
3.98e1 |
SMART |
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
low complexity region
|
420 |
425 |
N/A |
INTRINSIC |
low complexity region
|
456 |
476 |
N/A |
INTRINSIC |
CH
|
479 |
588 |
9.24e-15 |
SMART |
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176011
|
SMART Domains |
Protein: ENSMUSP00000135133 Gene: ENSMUSG00000093445
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176256
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176667
AA Change: D348E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000135832 Gene: ENSMUSG00000093445 AA Change: D348E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
LRR
|
90 |
112 |
4.84e1 |
SMART |
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
LRR
|
158 |
180 |
2.63e0 |
SMART |
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
LRR
|
226 |
249 |
3.98e1 |
SMART |
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
CH
|
533 |
648 |
4.73e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177545
AA Change: D348E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135286 Gene: ENSMUSG00000029720 AA Change: D348E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
LRR
|
90 |
112 |
4.84e1 |
SMART |
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
LRR
|
158 |
180 |
2.63e0 |
SMART |
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
LRR
|
226 |
249 |
3.98e1 |
SMART |
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
CH
|
533 |
642 |
9.24e-15 |
SMART |
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177354
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176988
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177038
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176768
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176871
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177466
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177477
|
SMART Domains |
Protein: ENSMUSP00000135724 Gene: ENSMUSG00000093445
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
98% (39/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atad2 |
A |
G |
15: 57,963,119 (GRCm39) |
C805R |
probably benign |
Het |
Atf7ip |
T |
A |
6: 136,537,815 (GRCm39) |
N357K |
probably benign |
Het |
Atp7a |
T |
A |
X: 105,145,449 (GRCm39) |
|
probably null |
Het |
Cdc16 |
T |
C |
8: 13,827,609 (GRCm39) |
|
probably null |
Het |
Cdh26 |
T |
A |
2: 178,111,794 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
A |
T |
18: 80,495,566 (GRCm39) |
S273T |
probably damaging |
Het |
Cyb5d1 |
G |
T |
11: 69,284,658 (GRCm39) |
R165S |
probably damaging |
Het |
Ddhd1 |
T |
C |
14: 45,848,030 (GRCm39) |
K546R |
probably benign |
Het |
Ddhd1 |
A |
T |
14: 45,894,720 (GRCm39) |
V250E |
probably damaging |
Het |
Dnm1l |
G |
T |
16: 16,139,476 (GRCm39) |
A406D |
possibly damaging |
Het |
Efs |
G |
A |
14: 55,157,879 (GRCm39) |
|
probably benign |
Het |
Ephb1 |
A |
C |
9: 101,918,238 (GRCm39) |
S424A |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,470,215 (GRCm39) |
T83A |
possibly damaging |
Het |
Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Gm9970 |
G |
C |
5: 31,398,117 (GRCm39) |
|
probably benign |
Het |
H2az2 |
A |
G |
11: 6,383,761 (GRCm39) |
V53A |
possibly damaging |
Het |
Inpp5d |
G |
A |
1: 87,629,130 (GRCm39) |
|
probably benign |
Het |
Lhcgr |
A |
G |
17: 89,061,284 (GRCm39) |
S256P |
possibly damaging |
Het |
Mettl13 |
T |
C |
1: 162,371,789 (GRCm39) |
E360G |
probably damaging |
Het |
Mtss2 |
C |
T |
8: 111,456,692 (GRCm39) |
S192L |
probably damaging |
Het |
Myh8 |
G |
A |
11: 67,175,443 (GRCm39) |
|
probably benign |
Het |
Myom2 |
T |
A |
8: 15,152,650 (GRCm39) |
Y666N |
probably benign |
Het |
Pcdha8 |
G |
A |
18: 37,126,741 (GRCm39) |
V408M |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,435,878 (GRCm39) |
F615L |
probably damaging |
Het |
Pitrm1 |
T |
C |
13: 6,608,271 (GRCm39) |
L333P |
probably damaging |
Het |
Plxnb1 |
G |
T |
9: 108,942,526 (GRCm39) |
|
probably benign |
Het |
Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
Rbmx2 |
T |
A |
X: 47,797,890 (GRCm39) |
S143T |
possibly damaging |
Het |
Rgl2 |
C |
A |
17: 34,151,571 (GRCm39) |
A205D |
probably benign |
Het |
Rundc3a |
A |
G |
11: 102,290,085 (GRCm39) |
I175V |
possibly damaging |
Het |
Rxra |
A |
C |
2: 27,631,923 (GRCm39) |
Q198P |
probably damaging |
Het |
Slc25a36 |
A |
T |
9: 96,982,208 (GRCm39) |
Y42* |
probably null |
Het |
Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
Tmem86b |
A |
G |
7: 4,631,623 (GRCm39) |
L138P |
probably damaging |
Het |
Trappc13 |
C |
T |
13: 104,305,068 (GRCm39) |
D40N |
probably benign |
Het |
Vmn1r39 |
T |
C |
6: 66,781,863 (GRCm39) |
S152G |
probably damaging |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zfp35 |
T |
C |
18: 24,135,982 (GRCm39) |
C109R |
possibly damaging |
Het |
|
Other mutations in Lrch4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Lrch4
|
APN |
5 |
137,636,009 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01862:Lrch4
|
APN |
5 |
137,635,271 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03289:Lrch4
|
APN |
5 |
137,631,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R0144:Lrch4
|
UTSW |
5 |
137,636,805 (GRCm39) |
critical splice donor site |
probably null |
|
R0724:Lrch4
|
UTSW |
5 |
137,635,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R1330:Lrch4
|
UTSW |
5 |
137,636,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R1557:Lrch4
|
UTSW |
5 |
137,635,818 (GRCm39) |
missense |
probably benign |
0.00 |
R1694:Lrch4
|
UTSW |
5 |
137,636,723 (GRCm39) |
missense |
probably benign |
0.00 |
R2358:Lrch4
|
UTSW |
5 |
137,636,810 (GRCm39) |
unclassified |
probably benign |
|
R3755:Lrch4
|
UTSW |
5 |
137,635,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Lrch4
|
UTSW |
5 |
137,637,408 (GRCm39) |
nonsense |
probably null |
|
R5056:Lrch4
|
UTSW |
5 |
137,635,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R5114:Lrch4
|
UTSW |
5 |
137,636,179 (GRCm39) |
missense |
probably benign |
|
R5181:Lrch4
|
UTSW |
5 |
137,627,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R5325:Lrch4
|
UTSW |
5 |
137,636,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R5430:Lrch4
|
UTSW |
5 |
137,636,795 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5712:Lrch4
|
UTSW |
5 |
137,636,188 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5846:Lrch4
|
UTSW |
5 |
137,631,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5909:Lrch4
|
UTSW |
5 |
137,632,127 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7319:Lrch4
|
UTSW |
5 |
137,637,977 (GRCm39) |
missense |
|
|
R7525:Lrch4
|
UTSW |
5 |
137,637,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R7761:Lrch4
|
UTSW |
5 |
137,638,025 (GRCm39) |
missense |
|
|
R7848:Lrch4
|
UTSW |
5 |
137,632,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R8209:Lrch4
|
UTSW |
5 |
137,637,997 (GRCm39) |
missense |
|
|
R8226:Lrch4
|
UTSW |
5 |
137,637,997 (GRCm39) |
missense |
|
|
R8713:Lrch4
|
UTSW |
5 |
137,638,125 (GRCm39) |
nonsense |
probably null |
|
R9361:Lrch4
|
UTSW |
5 |
137,635,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R9372:Lrch4
|
UTSW |
5 |
137,631,953 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9440:Lrch4
|
UTSW |
5 |
137,636,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R9752:Lrch4
|
UTSW |
5 |
137,636,218 (GRCm39) |
missense |
probably benign |
|
R9796:Lrch4
|
UTSW |
5 |
137,635,269 (GRCm39) |
missense |
probably damaging |
0.99 |
RF009:Lrch4
|
UTSW |
5 |
137,635,805 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGCTGTCTTTCCGGATCTC -3'
(R):5'- TGCTGCTAGATGGCTTCTCC -3'
Sequencing Primer
(F):5'- TCGGAGCTGGCTCGTGATC -3'
(R):5'- GCTTAATTCAGAAGGCAGCTGCTC -3'
|
Posted On |
2015-03-18 |