Incidental Mutation 'R3755:Lrch4'
| ID |
271385 |
| 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 |
040738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R3755 (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: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
96% (50/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
C |
A |
10: 29,098,110 (GRCm39) |
S169Y |
probably damaging |
Het |
| Abcb1a |
G |
A |
5: 8,797,403 (GRCm39) |
V1225M |
possibly damaging |
Het |
| Adamdec1 |
A |
T |
14: 68,814,587 (GRCm39) |
I130N |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,537,815 (GRCm39) |
N357K |
probably benign |
Het |
| Bace2 |
C |
G |
16: 97,237,857 (GRCm39) |
T436R |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,638,114 (GRCm39) |
Q430* |
probably null |
Het |
| Ccdc30 |
A |
T |
4: 119,225,005 (GRCm39) |
|
probably null |
Het |
| Ces5a |
T |
C |
8: 94,255,130 (GRCm39) |
T184A |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,411,594 (GRCm39) |
C493R |
possibly damaging |
Het |
| Creb3l2 |
A |
T |
6: 37,340,961 (GRCm39) |
I146N |
possibly damaging |
Het |
| Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,748,348 (GRCm39) |
V27I |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,808,561 (GRCm39) |
D1627N |
probably benign |
Het |
| Gcdh |
A |
G |
8: 85,620,109 (GRCm39) |
|
probably benign |
Het |
| Kcna7 |
T |
C |
7: 45,058,369 (GRCm39) |
F219L |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,941,349 (GRCm39) |
L280S |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,933,060 (GRCm39) |
V2073D |
probably damaging |
Het |
| Kprp |
A |
G |
3: 92,732,346 (GRCm39) |
S235P |
unknown |
Het |
| Lpp |
A |
G |
16: 24,663,911 (GRCm39) |
H396R |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,502,048 (GRCm39) |
N179S |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,371,789 (GRCm39) |
E360G |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,241,936 (GRCm39) |
S418R |
probably damaging |
Het |
| Or52b1 |
A |
G |
7: 104,979,358 (GRCm39) |
F14L |
probably damaging |
Het |
| Or8s2 |
A |
C |
15: 98,276,463 (GRCm39) |
I176S |
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 |
| Pkd1l3 |
C |
T |
8: 110,359,171 (GRCm39) |
T844I |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,452,802 (GRCm39) |
E3909V |
probably damaging |
Het |
| Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
| Ptpn1 |
T |
C |
2: 167,816,143 (GRCm39) |
I219T |
probably damaging |
Het |
| Rad18 |
T |
C |
6: 112,670,432 (GRCm39) |
N44S |
probably damaging |
Het |
| Reep5 |
T |
C |
18: 34,505,527 (GRCm39) |
Y48C |
probably 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 |
| Slamf1 |
C |
T |
1: 171,604,728 (GRCm39) |
A166V |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
| Snap23 |
T |
A |
2: 120,416,726 (GRCm39) |
C79S |
probably damaging |
Het |
| Spag6l |
A |
C |
16: 16,580,884 (GRCm39) |
|
probably null |
Het |
| Trappc13 |
C |
T |
13: 104,305,068 (GRCm39) |
D40N |
probably benign |
Het |
| Trav4-3 |
C |
A |
14: 53,836,596 (GRCm39) |
S20R |
probably benign |
Het |
| Tssk2 |
G |
A |
16: 17,716,827 (GRCm39) |
E77K |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,195,482 (GRCm39) |
F1051S |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,498 (GRCm39) |
T414A |
probably benign |
Het |
| Urod |
C |
T |
4: 116,850,601 (GRCm39) |
C66Y |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,271 (GRCm39) |
K62E |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,578,106 (GRCm39) |
S460P |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zbtb7a |
C |
T |
10: 80,980,100 (GRCm39) |
T98M |
probably damaging |
Het |
| Zfp524 |
C |
A |
7: 5,020,884 (GRCm39) |
H137Q |
probably 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 |
|
|
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 |
|
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'- AGCTGTCTTTCCGGATCTCG -3'
(R):5'- TGCTGCTAGATGGCTTCTCC -3'
Sequencing Primer
(F):5'- TCGGAGCTGGCTCGTGATC -3'
(R):5'- GCTTAATTCAGAAGGCAGCTGCTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation