Incidental Mutation 'R5325:Lrch4'
ID |
475447 |
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 |
MMRRC Submission |
042908-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R5325 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137627385-137639361 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137636168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 373
(E373G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031734]
[ENSMUST00000166099]
[ENSMUST00000175968]
[ENSMUST00000176011]
[ENSMUST00000176667]
[ENSMUST00000177545]
[ENSMUST00000177477]
[ENSMUST00000177466]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031734
AA Change: E373G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031734 Gene: ENSMUSG00000093445 AA Change: E373G
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 |
possibly damaging
Transcript: ENSMUST00000175968
AA Change: E319G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134767 Gene: ENSMUSG00000093445 AA Change: E319G
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: E373G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000135832 Gene: ENSMUSG00000093445 AA Change: E373G
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 |
possibly damaging
Transcript: ENSMUST00000177545
AA Change: E373G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000135286 Gene: ENSMUSG00000029720 AA Change: E373G
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: ENSMUST00000176988
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177038
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177354
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177466
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176768
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176871
|
Meta Mutation Damage Score |
0.0696 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (55/56) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
T |
A |
11: 105,896,079 (GRCm39) |
M675K |
probably benign |
Het |
Ccdc186 |
A |
T |
19: 56,801,613 (GRCm39) |
I168N |
probably damaging |
Het |
Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
Cep83 |
A |
G |
10: 94,573,768 (GRCm39) |
E219G |
probably damaging |
Het |
Ctsj |
T |
C |
13: 61,151,839 (GRCm39) |
T73A |
possibly damaging |
Het |
Ddr2 |
T |
A |
1: 169,829,406 (GRCm39) |
T283S |
probably benign |
Het |
Ehbp1 |
T |
A |
11: 22,045,370 (GRCm39) |
D768V |
possibly damaging |
Het |
Evpl |
T |
C |
11: 116,112,191 (GRCm39) |
D1833G |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,685,549 (GRCm39) |
N87S |
probably benign |
Het |
Fam98b |
A |
C |
2: 117,101,132 (GRCm39) |
I315L |
possibly damaging |
Het |
Fancg |
A |
G |
4: 43,006,564 (GRCm39) |
V330A |
probably damaging |
Het |
Fbxo30 |
G |
A |
10: 11,166,846 (GRCm39) |
V523I |
possibly damaging |
Het |
Fbxw27 |
A |
G |
9: 109,599,161 (GRCm39) |
C419R |
probably damaging |
Het |
Flt3 |
C |
A |
5: 147,312,459 (GRCm39) |
V161L |
probably benign |
Het |
Fndc7 |
G |
A |
3: 108,790,765 (GRCm39) |
T87I |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm6457 |
A |
T |
18: 14,703,498 (GRCm39) |
|
noncoding transcript |
Het |
Gpr63 |
T |
C |
4: 25,007,294 (GRCm39) |
V6A |
probably benign |
Het |
Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
H2-M10.2 |
C |
A |
17: 36,596,471 (GRCm39) |
V125L |
probably benign |
Het |
Hrh4 |
C |
T |
18: 13,155,054 (GRCm39) |
Q198* |
probably null |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Noa1 |
A |
C |
5: 77,452,042 (GRCm39) |
D547E |
probably damaging |
Het |
Nr2e1 |
G |
A |
10: 42,448,780 (GRCm39) |
R153W |
probably damaging |
Het |
Nudt9 |
A |
C |
5: 104,198,487 (GRCm39) |
M1L |
possibly damaging |
Het |
Odf2 |
T |
A |
2: 29,802,583 (GRCm39) |
D282E |
probably benign |
Het |
Olfr908 |
A |
T |
9: 38,427,454 (GRCm39) |
N42I |
probably damaging |
Het |
Or13a25 |
C |
A |
7: 140,247,705 (GRCm39) |
H168Q |
probably benign |
Het |
Or6ae1 |
T |
A |
7: 139,742,026 (GRCm39) |
Y279F |
probably damaging |
Het |
Osbpl5 |
C |
G |
7: 143,245,665 (GRCm39) |
A816P |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,153,503 (GRCm39) |
I924T |
possibly damaging |
Het |
Ppat |
A |
G |
5: 77,076,269 (GRCm39) |
|
probably benign |
Het |
Rad50 |
T |
G |
11: 53,583,690 (GRCm39) |
I364L |
probably benign |
Het |
Rnf7l |
A |
G |
10: 63,257,458 (GRCm39) |
S21P |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,770,673 (GRCm39) |
I484T |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,705,249 (GRCm39) |
M2839K |
probably damaging |
Het |
Sin3b |
A |
G |
8: 73,477,154 (GRCm39) |
D807G |
probably damaging |
Het |
Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
Smim17 |
G |
A |
7: 6,432,321 (GRCm39) |
V88M |
probably damaging |
Het |
Spib |
T |
C |
7: 44,177,505 (GRCm39) |
T229A |
probably damaging |
Het |
St14 |
A |
T |
9: 31,008,274 (GRCm39) |
|
probably null |
Het |
Syne4 |
A |
T |
7: 30,018,401 (GRCm39) |
Y381F |
probably damaging |
Het |
Sytl1 |
T |
C |
4: 132,988,382 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
A |
C |
6: 29,602,012 (GRCm39) |
|
probably benign |
Het |
Trim12a |
T |
A |
7: 103,953,413 (GRCm39) |
I233F |
probably damaging |
Het |
Tspan1 |
T |
A |
4: 116,021,536 (GRCm39) |
N82Y |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,201 (GRCm39) |
M300L |
probably benign |
Het |
Wdr17 |
G |
A |
8: 55,112,716 (GRCm39) |
A788V |
possibly damaging |
Het |
Wwtr1 |
A |
T |
3: 57,482,658 (GRCm39) |
V63E |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,060,735 (GRCm39) |
|
probably benign |
Het |
Zfp956 |
T |
C |
6: 47,928,012 (GRCm39) |
|
probably benign |
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 |
R3756: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 |
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'- GTGAGTATGGGCTGGAAACC -3'
(R):5'- AACTGCAAAGTGTCTGGGC -3'
Sequencing Primer
(F):5'- TCTTGCAGGCGATGGAGAC -3'
(R):5'- TCTCCTCCCCTGCAGGC -3'
|
Posted On |
2017-04-24 |