Incidental Mutation 'R9796:Lrch4'
| ID |
734934 |
| 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: 0.179)
|
| Stock # |
R9796 (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 137635269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 253
(H253R)
|
| 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: H253R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445
AA Change: H253R
| 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: H199R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445
AA Change: H199R
| 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: H253R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445
AA Change: H253R
| 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: H253R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720
AA Change: H253R
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
C |
T |
10: 29,101,349 (GRCm39) |
T574I |
possibly damaging |
Het |
| Aadac |
T |
G |
3: 59,945,882 (GRCm39) |
V184G |
probably damaging |
Het |
| Adam6b |
G |
A |
12: 113,454,272 (GRCm39) |
C363Y |
probably damaging |
Het |
| Adamts8 |
T |
A |
9: 30,862,569 (GRCm39) |
I258N |
probably damaging |
Het |
| Adarb2 |
C |
T |
13: 8,619,852 (GRCm39) |
L113F |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,824 (GRCm39) |
N1099S |
probably damaging |
Het |
| Alg10b |
G |
T |
15: 90,108,728 (GRCm39) |
A30S |
possibly damaging |
Het |
| Als2 |
T |
A |
1: 59,209,601 (GRCm39) |
E1460D |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,608,801 (GRCm39) |
R1515* |
probably null |
Het |
| Asxl2 |
C |
T |
12: 3,546,508 (GRCm39) |
P431S |
probably benign |
Het |
| AU018091 |
A |
T |
7: 3,213,785 (GRCm39) |
V153D |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,459,169 (GRCm39) |
V80A |
probably benign |
Het |
| Cdc16 |
G |
T |
8: 13,807,693 (GRCm39) |
|
probably benign |
Het |
| Cdk14 |
A |
G |
5: 5,316,012 (GRCm39) |
S4P |
probably benign |
Het |
| Ctu2 |
A |
T |
8: 123,202,989 (GRCm39) |
Y8F |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,342,537 (GRCm39) |
F1294L |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,817,457 (GRCm39) |
D37G |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,278 (GRCm39) |
N325I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,158,941 (GRCm39) |
M2275L |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,674,055 (GRCm39) |
K9E |
possibly damaging |
Het |
| Gm3696 |
T |
C |
14: 18,435,140 (GRCm39) |
N48S |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,538,233 (GRCm39) |
E1082G |
possibly damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,715,386 (GRCm39) |
N52K |
probably benign |
Het |
| Hrh2 |
C |
T |
13: 54,375,241 (GRCm39) |
T359I |
probably benign |
Het |
| Ifi44l |
A |
G |
3: 151,468,419 (GRCm39) |
V37A |
|
Het |
| Igfn1 |
C |
A |
1: 135,897,611 (GRCm39) |
W985L |
probably benign |
Het |
| Il22b |
A |
G |
10: 118,130,081 (GRCm39) |
S108P |
probably benign |
Het |
| Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
| Klk1 |
T |
C |
7: 43,877,965 (GRCm39) |
W74R |
possibly damaging |
Het |
| Lmntd2 |
A |
T |
7: 140,793,597 (GRCm39) |
N96K |
possibly damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,959,917 (GRCm39) |
D109V |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,928,291 (GRCm39) |
T1004A |
probably benign |
Het |
| Mapk10 |
A |
G |
5: 103,135,101 (GRCm39) |
V287A |
possibly damaging |
Het |
| Mtss2 |
G |
A |
8: 111,456,753 (GRCm39) |
|
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,406,497 (GRCm39) |
I116V |
possibly damaging |
Het |
| Mylk4 |
T |
A |
13: 32,900,643 (GRCm39) |
M296L |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,527,969 (GRCm39) |
F2238S |
probably damaging |
Het |
| Or11g26 |
G |
T |
14: 50,753,229 (GRCm39) |
L189F |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,522,541 (GRCm39) |
F243L |
probably damaging |
Het |
| Pcdhb22 |
G |
A |
18: 37,652,404 (GRCm39) |
E34K |
possibly damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,578,353 (GRCm39) |
F359I |
possibly damaging |
Het |
| Prkn |
A |
T |
17: 11,456,554 (GRCm39) |
D126V |
possibly damaging |
Het |
| Rnf168 |
C |
T |
16: 32,117,872 (GRCm39) |
R478C |
probably damaging |
Het |
| Sh3gl2 |
G |
A |
4: 85,295,765 (GRCm39) |
V156I |
possibly damaging |
Het |
| Taf2 |
A |
T |
15: 54,910,832 (GRCm39) |
M614K |
probably damaging |
Het |
| Tbc1d31 |
G |
A |
15: 57,833,179 (GRCm39) |
V973M |
probably damaging |
Het |
| Tmem131l |
T |
G |
3: 83,829,402 (GRCm39) |
K1085T |
probably damaging |
Het |
| Tpst1 |
A |
G |
5: 130,163,300 (GRCm39) |
T366A |
probably benign |
Het |
| Unc50 |
A |
G |
1: 37,471,679 (GRCm39) |
T110A |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,172 (GRCm39) |
H128R |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,631,828 (GRCm39) |
N2602K |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,854,505 (GRCm39) |
|
probably null |
Het |
| Vps50 |
A |
G |
6: 3,562,300 (GRCm39) |
E465G |
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 |
|
|
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 |
|
|
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 |
|
|
RF009:Lrch4
|
UTSW |
5 |
137,635,805 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTCGTTCTGCTGGATAG -3'
(R):5'- AATAAATCTTCGGCAGGGCTG -3'
Sequencing Primer
(F):5'- TGGATAGCAACCCCCTACAGAG -3'
(R):5'- AGGAAGACCCGGTCAGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation