Incidental Mutation 'R9361:Lrch4'
| ID |
708688 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R9361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137627385-137639361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 137635076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 225
(R225H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031734]
[ENSMUST00000166099]
[ENSMUST00000175968]
[ENSMUST00000176011]
[ENSMUST00000176667]
[ENSMUST00000177466]
[ENSMUST00000177477]
[ENSMUST00000177545]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031734
AA Change: R225H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445
AA Change: R225H
| 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: R171H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445
AA Change: R171H
| 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 |
probably damaging
Transcript: ENSMUST00000176667
AA Change: R225H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445
AA Change: R225H
| 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: 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177545
AA Change: R225H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720
AA Change: R225H
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
C |
T |
8: 121,361,060 (GRCm39) |
A12T |
unknown |
Het |
| Aasdh |
T |
A |
5: 77,030,225 (GRCm39) |
T792S |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,805,824 (GRCm39) |
L49Q |
probably damaging |
Het |
| Adcy3 |
G |
T |
12: 4,259,366 (GRCm39) |
R881L |
possibly damaging |
Het |
| Alox15 |
T |
G |
11: 70,241,679 (GRCm39) |
K67N |
probably damaging |
Het |
| Amotl1 |
C |
T |
9: 14,504,677 (GRCm39) |
R177Q |
probably benign |
Het |
| Ankrd34c |
T |
A |
9: 89,612,183 (GRCm39) |
I53F |
probably damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,658 (GRCm39) |
F932Y |
possibly damaging |
Het |
| Bckdk |
A |
G |
7: 127,506,515 (GRCm39) |
M281V |
probably benign |
Het |
| Ccdc33 |
C |
T |
9: 58,024,908 (GRCm39) |
C106Y |
possibly damaging |
Het |
| Celsr3 |
T |
A |
9: 108,726,521 (GRCm39) |
I3250N |
probably damaging |
Het |
| Ces1g |
A |
T |
8: 94,061,646 (GRCm39) |
|
probably null |
Het |
| Ces2b |
G |
A |
8: 105,564,039 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
T |
4: 126,479,654 (GRCm39) |
D1033V |
probably damaging |
Het |
| Cntln |
G |
T |
4: 84,968,151 (GRCm39) |
R790I |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,803,877 (GRCm39) |
V1656A |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,126,991 (GRCm39) |
S907P |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 71,068,259 (GRCm39) |
D610V |
probably damaging |
Het |
| Efcab3 |
C |
T |
11: 104,896,524 (GRCm39) |
T4291I |
probably benign |
Het |
| Eya4 |
C |
A |
10: 22,985,766 (GRCm39) |
G579W |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,400,076 (GRCm39) |
I342M |
probably benign |
Het |
| Fhdc1 |
A |
C |
3: 84,356,140 (GRCm39) |
C435G |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fras1 |
T |
G |
5: 96,924,557 (GRCm39) |
L3666R |
probably damaging |
Het |
| Gm21560 |
T |
A |
14: 6,218,262 (GRCm38) |
H72L |
possibly damaging |
Het |
| Gtsf2 |
C |
T |
15: 103,348,066 (GRCm39) |
W148* |
probably null |
Het |
| Gucy2c |
T |
C |
6: 136,714,429 (GRCm39) |
K466E |
possibly damaging |
Het |
| Higd2a |
T |
A |
13: 54,738,120 (GRCm39) |
D14E |
probably benign |
Het |
| Hlcs |
C |
T |
16: 93,939,799 (GRCm39) |
V513M |
probably benign |
Het |
| Ido1 |
T |
C |
8: 25,079,601 (GRCm39) |
T148A |
probably benign |
Het |
| Ighv1-5 |
T |
A |
12: 114,476,985 (GRCm39) |
T106S |
probably damaging |
Het |
| Igkv4-92 |
T |
C |
6: 68,732,090 (GRCm39) |
T95A |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
T |
G |
13: 9,199,937 (GRCm39) |
F278V |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,252 (GRCm39) |
Y378H |
probably benign |
Het |
| Nme9 |
T |
A |
9: 99,341,775 (GRCm39) |
C42S |
probably damaging |
Het |
| Or2y10 |
A |
G |
11: 49,455,303 (GRCm39) |
K185R |
probably damaging |
Het |
| Pdlim2 |
T |
G |
14: 70,402,190 (GRCm39) |
T309P |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prodh |
C |
T |
16: 17,898,834 (GRCm39) |
C207Y |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,213,229 (GRCm39) |
L168Q |
probably damaging |
Het |
| Resf1 |
T |
G |
6: 149,228,132 (GRCm39) |
S393A |
possibly damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,051,492 (GRCm39) |
Q189R |
probably benign |
Het |
| Skint4 |
T |
C |
4: 112,001,021 (GRCm39) |
L372S |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Specc1 |
A |
T |
11: 62,037,144 (GRCm39) |
E699D |
probably benign |
Het |
| Speer1m |
C |
T |
5: 11,970,646 (GRCm39) |
T105M |
|
Het |
| Syt6 |
C |
A |
3: 103,482,679 (GRCm39) |
|
probably benign |
Het |
| Tent5b |
G |
T |
4: 133,213,461 (GRCm39) |
A111S |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,557,246 (GRCm39) |
E969G |
possibly damaging |
Het |
| Tie1 |
A |
C |
4: 118,336,829 (GRCm39) |
H632Q |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,796,417 (GRCm39) |
W372R |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 53,007,606 (GRCm39) |
V33A |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,575,886 (GRCm39) |
N324K |
probably damaging |
Het |
| Vmn2r79 |
G |
T |
7: 86,652,822 (GRCm39) |
|
probably null |
Het |
| Washc2 |
T |
C |
6: 116,239,433 (GRCm39) |
*1335Q |
probably null |
Het |
| Yme1l1 |
C |
T |
2: 23,081,063 (GRCm39) |
T445I |
possibly damaging |
Het |
| Zdhhc11 |
T |
C |
13: 74,122,737 (GRCm39) |
C158R |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,624,364 (GRCm39) |
L244P |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,690,887 (GRCm39) |
I103F |
probably damaging |
Het |
| Zfp980 |
A |
T |
4: 145,427,999 (GRCm39) |
T243S |
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 |
|
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 |
|
|
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'- TTCTGGGAAGTGAGCTGAGC -3'
(R):5'- CCCCTTCAGGCATATCTGTG -3'
Sequencing Primer
(F):5'- CTATGATGGAGCTAGGGGTGAC -3'
(R):5'- CAGGCATATCTGTGAGGGGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation