Incidental Mutation 'R7848:Lrch4'
| ID |
606727 |
| 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 |
045902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R7848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137627385-137639361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137632116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 124
(N124S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031734]
[ENSMUST00000111002]
[ENSMUST00000136028]
[ENSMUST00000175968]
[ENSMUST00000176011]
[ENSMUST00000176667]
[ENSMUST00000177477]
[ENSMUST00000177545]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031734
AA Change: N124S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445
AA Change: N124S
| 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: ENSMUST00000111002
|
| SMART Domains |
Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
247 |
293 |
4.2e-11 |
PFAM |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136028
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175968
AA Change: N70S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445
AA Change: N70S
| 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 |
possibly damaging
Transcript: ENSMUST00000176667
AA Change: N124S
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445
AA Change: N124S
| 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 benign
Transcript: ENSMUST00000176871
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177477
AA Change: T76A
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135724
Gene: ENSMUSG00000093445
AA Change: T76A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177545
AA Change: N124S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720
AA Change: N124S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
T |
5: 113,340,007 (GRCm39) |
A2T |
probably damaging |
Het |
| Abca3 |
G |
T |
17: 24,603,506 (GRCm39) |
G566V |
probably damaging |
Het |
| Aff4 |
C |
A |
11: 53,295,339 (GRCm39) |
N846K |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,335,707 (GRCm39) |
R714Q |
probably benign |
Het |
| Cbln1 |
T |
C |
8: 88,198,328 (GRCm39) |
T126A |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,346,123 (GRCm39) |
S446P |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,536 (GRCm39) |
Q676R |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,324,939 (GRCm39) |
S139P |
probably damaging |
Het |
| Col26a1 |
T |
C |
5: 136,775,907 (GRCm39) |
K349E |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,385 (GRCm39) |
I1174V |
unknown |
Het |
| Cyth1 |
TGGGCAA |
T |
11: 118,074,749 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,973,557 (GRCm39) |
D64G |
possibly damaging |
Het |
| Dnajc15 |
T |
C |
14: 78,077,643 (GRCm39) |
H114R |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,224,961 (GRCm39) |
F1390S |
probably damaging |
Het |
| F5 |
T |
C |
1: 163,989,446 (GRCm39) |
I116T |
possibly damaging |
Het |
| Fam120b |
T |
C |
17: 15,626,036 (GRCm39) |
V463A |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,942,000 (GRCm39) |
M298V |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,632,913 (GRCm39) |
M1197K |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,689,760 (GRCm39) |
I127F |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,596,728 (GRCm39) |
|
probably benign |
Het |
| Gabpb2 |
A |
T |
3: 95,097,959 (GRCm39) |
V238E |
probably damaging |
Het |
| Gnpat |
C |
A |
8: 125,613,630 (GRCm39) |
Q626K |
possibly damaging |
Het |
| Gstm7 |
A |
T |
3: 107,835,902 (GRCm39) |
|
probably null |
Het |
| Gys2 |
G |
T |
6: 142,391,741 (GRCm39) |
S507* |
probably null |
Het |
| Ippk |
T |
A |
13: 49,596,972 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
A |
2: 12,196,548 (GRCm39) |
N623I |
probably damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,948,188 (GRCm39) |
F220S |
probably damaging |
Het |
| Kiz |
T |
A |
2: 146,731,100 (GRCm39) |
S197T |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,009,598 (GRCm39) |
N479S |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,091,301 (GRCm39) |
*60W |
probably null |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,724,621 (GRCm39) |
V373A |
probably damaging |
Het |
| Mapkapk5 |
A |
G |
5: 121,683,232 (GRCm39) |
I11T |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,967,861 (GRCm39) |
Q967* |
probably null |
Het |
| Mthfd1l |
A |
G |
10: 4,033,739 (GRCm39) |
T709A |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,232,188 (GRCm39) |
T939A |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,287,267 (GRCm39) |
H394Y |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,524,414 (GRCm39) |
N161K |
possibly damaging |
Het |
| Nr2c1 |
C |
T |
10: 94,026,508 (GRCm39) |
S461L |
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,390,240 (GRCm39) |
E323G |
probably damaging |
Het |
| Nufip1 |
G |
A |
14: 76,351,661 (GRCm39) |
R172H |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,111,212 (GRCm39) |
T1705A |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Ogfr |
T |
C |
2: 180,234,226 (GRCm39) |
L99P |
probably damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,861 (GRCm39) |
D189G |
probably damaging |
Het |
| Or51a43 |
T |
A |
7: 103,717,302 (GRCm39) |
N312I |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,188 (GRCm39) |
D1163G |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,710,446 (GRCm39) |
S290T |
possibly damaging |
Het |
| Pklr |
T |
G |
3: 89,050,285 (GRCm39) |
I378S |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,938,136 (GRCm39) |
M712K |
probably benign |
Het |
| Rnase10 |
T |
C |
14: 51,246,970 (GRCm39) |
V116A |
possibly damaging |
Het |
| Scube3 |
T |
C |
17: 28,384,569 (GRCm39) |
L621P |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,280 (GRCm39) |
I51V |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,670,750 (GRCm39) |
T633A |
probably benign |
Het |
| St18 |
T |
C |
1: 6,927,669 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
A |
2: 153,044,275 (GRCm39) |
I509N |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,359 (GRCm39) |
K443E |
probably damaging |
Het |
| Tmem98 |
T |
G |
11: 80,710,758 (GRCm39) |
V139G |
probably damaging |
Het |
| Trgv5 |
G |
A |
13: 19,376,849 (GRCm39) |
V99I |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,381,573 (GRCm39) |
E232G |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,253,146 (GRCm39) |
N39D |
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 |
|
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 |
|
|
|
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'- GCCTTGGGGAATCTTACAGC -3'
(R):5'- AGCTACTTGCCTTTCGTCCAAG -3'
Sequencing Primer
(F):5'- TGGGGAATCTTACAGCCCTCAC -3'
(R):5'- ACAAAGTCCCCAGGCCCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation