Incidental Mutation 'R8209:Lrch4'
ID |
636055 |
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 |
067632-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R8209 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137627385-137639361 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137637997 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 93
(H93R)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031734]
[ENSMUST00000057314]
[ENSMUST00000166099]
[ENSMUST00000175968]
[ENSMUST00000176667]
[ENSMUST00000177466]
[ENSMUST00000177477]
[ENSMUST00000177545]
[ENSMUST00000196511]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031734
|
SMART Domains |
Protein: ENSMUSP00000031734 Gene: ENSMUSG00000093445
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: ENSMUST00000057314
|
SMART Domains |
Protein: ENSMUSP00000060844 Gene: ENSMUSG00000047182
Domain | Start | End | E-Value | Type |
PH
|
33 |
135 |
4.46e-11 |
SMART |
IRS
|
159 |
272 |
1.18e-30 |
SMART |
PTBI
|
159 |
272 |
7.23e-55 |
SMART |
|
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 benign
Transcript: ENSMUST00000175968
|
SMART Domains |
Protein: ENSMUSP00000134767 Gene: ENSMUSG00000093445
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: ENSMUST00000176667
|
SMART Domains |
Protein: ENSMUSP00000135832 Gene: ENSMUSG00000093445
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 |
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177545
|
SMART Domains |
Protein: ENSMUSP00000135286 Gene: ENSMUSG00000029720
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: ENSMUST00000196511
|
SMART Domains |
Protein: ENSMUSP00000142730 Gene: ENSMUSG00000047182
Domain | Start | End | E-Value | Type |
PH
|
33 |
135 |
4.46e-11 |
SMART |
IRS
|
159 |
272 |
1.18e-30 |
SMART |
PTBI
|
159 |
272 |
7.23e-55 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
G |
10: 29,094,195 (GRCm39) |
N27S |
probably damaging |
Het |
Akr1b1 |
G |
C |
6: 34,288,867 (GRCm39) |
T114R |
probably damaging |
Het |
Alx4 |
T |
C |
2: 93,505,696 (GRCm39) |
M266T |
possibly damaging |
Het |
Arhgap21 |
C |
T |
2: 20,876,556 (GRCm39) |
D820N |
probably damaging |
Het |
Clec4a1 |
A |
G |
6: 122,907,773 (GRCm39) |
S154G |
probably damaging |
Het |
Col11a2 |
T |
C |
17: 34,266,253 (GRCm39) |
|
probably null |
Het |
Dnaaf2 |
A |
T |
12: 69,244,866 (GRCm39) |
V65E |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,623,110 (GRCm39) |
E3996G |
possibly damaging |
Het |
Dsg1b |
A |
G |
18: 20,541,947 (GRCm39) |
Y818C |
probably benign |
Het |
Dzip3 |
C |
T |
16: 48,798,307 (GRCm39) |
G133S |
probably damaging |
Het |
Efcab6 |
T |
C |
15: 83,788,456 (GRCm39) |
Y946C |
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,139,812 (GRCm39) |
E967G |
possibly damaging |
Het |
F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
Fchsd2 |
C |
T |
7: 100,931,679 (GRCm39) |
P745L |
probably damaging |
Het |
Gart |
T |
C |
16: 91,425,041 (GRCm39) |
I661V |
possibly damaging |
Het |
Gm14295 |
T |
A |
2: 176,502,970 (GRCm39) |
I820K |
unknown |
Het |
Grb10 |
G |
T |
11: 11,901,533 (GRCm39) |
L214M |
probably damaging |
Het |
Gria2 |
A |
G |
3: 80,616,764 (GRCm39) |
V396A |
probably benign |
Het |
Il17rc |
C |
A |
6: 113,449,771 (GRCm39) |
Q126K |
probably benign |
Het |
Ipo8 |
A |
G |
6: 148,698,176 (GRCm39) |
I615T |
possibly damaging |
Het |
Irak4 |
T |
A |
15: 94,456,244 (GRCm39) |
L277Q |
probably damaging |
Het |
Islr |
T |
C |
9: 58,065,340 (GRCm39) |
S56G |
probably damaging |
Het |
Krt78 |
A |
T |
15: 101,855,480 (GRCm39) |
M777K |
possibly damaging |
Het |
Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
A |
T |
1: 60,316,336 (GRCm39) |
K1846N |
probably damaging |
Het |
Nedd1 |
T |
A |
10: 92,527,797 (GRCm39) |
M466L |
probably benign |
Het |
Nup107 |
T |
C |
10: 117,593,836 (GRCm39) |
K786E |
probably benign |
Het |
Or51f23b |
T |
C |
7: 102,402,950 (GRCm39) |
Y62C |
probably benign |
Het |
Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
Or5m12 |
T |
C |
2: 85,734,547 (GRCm39) |
I284V |
probably benign |
Het |
Phc2 |
T |
C |
4: 128,603,299 (GRCm39) |
L143P |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,437,803 (GRCm39) |
N3533D |
possibly damaging |
Het |
Plpp1 |
A |
T |
13: 113,003,465 (GRCm39) |
T230S |
probably benign |
Het |
Prokr2 |
C |
A |
2: 132,215,961 (GRCm39) |
A167S |
probably damaging |
Het |
Qser1 |
C |
T |
2: 104,619,070 (GRCm39) |
A491T |
probably benign |
Het |
Rc3h2 |
T |
A |
2: 37,267,001 (GRCm39) |
Y1040F |
possibly damaging |
Het |
Rgl2 |
C |
T |
17: 34,151,501 (GRCm39) |
L182F |
possibly damaging |
Het |
Rnf130 |
T |
C |
11: 49,962,097 (GRCm39) |
V181A |
probably benign |
Het |
Scn7a |
T |
G |
2: 66,531,204 (GRCm39) |
I558L |
possibly damaging |
Het |
Shtn1 |
T |
C |
19: 58,992,328 (GRCm39) |
I417V |
possibly damaging |
Het |
Slco1a5 |
T |
G |
6: 142,208,408 (GRCm39) |
N128H |
probably damaging |
Het |
Smg5 |
C |
T |
3: 88,258,838 (GRCm39) |
A603V |
probably benign |
Het |
Svs3b |
T |
A |
2: 164,098,140 (GRCm39) |
E60D |
possibly damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Timm44 |
A |
T |
8: 4,316,844 (GRCm39) |
M263K |
probably benign |
Het |
Tmem150b |
A |
G |
7: 4,723,691 (GRCm39) |
L162P |
probably damaging |
Het |
Tmprss11f |
A |
G |
5: 86,687,566 (GRCm39) |
V114A |
probably damaging |
Het |
Trak1 |
C |
T |
9: 121,280,793 (GRCm39) |
T394I |
probably benign |
Het |
Tram2 |
A |
C |
1: 21,075,801 (GRCm39) |
Y206D |
probably damaging |
Het |
Trhde |
C |
T |
10: 114,403,133 (GRCm39) |
V497M |
probably damaging |
Het |
Trpc2 |
A |
G |
7: 101,737,482 (GRCm39) |
M425V |
possibly damaging |
Het |
Tuba1b |
C |
T |
15: 98,829,591 (GRCm39) |
G410S |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 63,997,199 (GRCm39) |
D285G |
possibly damaging |
Het |
Zfp536 |
A |
T |
7: 37,268,080 (GRCm39) |
S445R |
probably benign |
Het |
Zfp606 |
A |
T |
7: 12,227,234 (GRCm39) |
T452S |
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 |
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 |
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'- TCCTCTGTCTCCAGCCAAAG -3'
(R):5'- GCAGCATGAAGACCACGTAG -3'
Sequencing Primer
(F):5'- GCTCAGTGCTCTCAAGTCTCGG -3'
(R):5'- AGGATCACAGCCTCCAGG -3'
|
Posted On |
2020-07-13 |