Incidental Mutation 'R8229:Lrrn4'
| ID |
640936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrn4
|
| Ensembl Gene |
ENSMUSG00000043110 |
| Gene Name |
leucine rich repeat neuronal 4 |
| Synonyms |
B430119L13Rik |
| MMRRC Submission |
067645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R8229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
132710225-132722811 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132711807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 672
(T672I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028835]
[ENSMUST00000049787]
[ENSMUST00000124834]
[ENSMUST00000124836]
[ENSMUST00000154160]
|
| AlphaFold |
P59383 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028835
|
| SMART Domains |
Protein: ENSMUSP00000028835
Gene: ENSMUSG00000027357
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
93 |
N/A |
INTRINSIC |
|
Pfam:CDP-OH_P_transf
|
107 |
288 |
1.5e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049787
AA Change: T672I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110
AA Change: T672I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LRR
|
105 |
126 |
7.36e0 |
SMART |
|
LRR_TYP
|
128 |
151 |
3.44e-4 |
SMART |
|
LRR
|
153 |
175 |
1.19e1 |
SMART |
|
LRR
|
176 |
199 |
1.53e1 |
SMART |
|
LRR
|
205 |
228 |
2.03e1 |
SMART |
|
LRR
|
229 |
253 |
3.36e2 |
SMART |
|
LRRCT
|
311 |
363 |
6.92e-2 |
SMART |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
FN3
|
577 |
656 |
3.73e-10 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124834
|
| SMART Domains |
Protein: ENSMUSP00000129509
Gene: ENSMUSG00000027357
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124836
|
| SMART Domains |
Protein: ENSMUSP00000132682
Gene: ENSMUSG00000027357
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
1 |
175 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154160
|
| SMART Domains |
Protein: ENSMUSP00000129137
Gene: ENSMUSG00000027357
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
7 |
187 |
1.8e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mutant mice exhibit impaired memory retention in hippocampus- dependent learning tasks such as contextual conditioning and spatial learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,201,754 (GRCm39) |
M203K |
probably damaging |
Het |
| Arhgap23 |
G |
A |
11: 97,344,732 (GRCm39) |
V565I |
probably benign |
Het |
| D6Wsu163e |
G |
T |
6: 126,943,966 (GRCm39) |
R454L |
probably benign |
Het |
| Def6 |
A |
G |
17: 28,436,729 (GRCm39) |
D131G |
probably damaging |
Het |
| Erc1 |
T |
C |
6: 119,730,249 (GRCm39) |
T616A |
probably benign |
Het |
| Ermard |
T |
A |
17: 15,279,596 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,808,487 (GRCm39) |
L1602P |
possibly damaging |
Het |
| Gli1 |
C |
T |
10: 127,168,317 (GRCm39) |
R512Q |
possibly damaging |
Het |
| Gm6034 |
A |
G |
17: 36,367,268 (GRCm39) |
T38A |
unknown |
Het |
| H2-M10.1 |
T |
C |
17: 36,634,931 (GRCm39) |
I325V |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,578,030 (GRCm39) |
D1107G |
unknown |
Het |
| Iws1 |
A |
G |
18: 32,217,740 (GRCm39) |
N448S |
probably benign |
Het |
| Klhl24 |
T |
C |
16: 19,933,321 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,540,608 (GRCm39) |
A304V |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,186,138 (GRCm39) |
E646G |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,754,402 (GRCm39) |
V59E |
probably benign |
Het |
| Magi3 |
C |
A |
3: 103,923,017 (GRCm39) |
E1233D |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 103,923,018 (GRCm39) |
E1233G |
probably benign |
Het |
| Mgat5b |
A |
T |
11: 116,838,213 (GRCm39) |
K284M |
probably benign |
Het |
| Nedd4 |
G |
T |
9: 72,638,670 (GRCm39) |
K485N |
probably benign |
Het |
| Or4c114 |
T |
A |
2: 88,905,382 (GRCm39) |
N18Y |
possibly damaging |
Het |
| Or5b101 |
A |
G |
19: 13,005,561 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or5p57 |
C |
T |
7: 107,665,794 (GRCm39) |
M70I |
probably benign |
Het |
| Or5w17 |
A |
T |
2: 87,583,408 (GRCm39) |
C310S |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,400,604 (GRCm39) |
H1106R |
unknown |
Het |
| Pcdha7 |
C |
A |
18: 37,107,776 (GRCm39) |
S267* |
probably null |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,671 (GRCm39) |
I334V |
probably benign |
Het |
| Phf11b |
A |
T |
14: 59,568,730 (GRCm39) |
L61Q |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,388,689 (GRCm39) |
D138G |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,484,622 (GRCm39) |
V1592A |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,341,673 (GRCm39) |
S564T |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,522 (GRCm39) |
V469A |
probably benign |
Het |
| Trim11 |
G |
A |
11: 58,872,167 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
T |
A |
3: 146,607,204 (GRCm39) |
I158K |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,463 (GRCm39) |
E402G |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,075,929 (GRCm39) |
V383A |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,957,167 (GRCm39) |
|
probably benign |
Het |
| Ywhab |
T |
G |
2: 163,856,015 (GRCm39) |
Y130* |
probably null |
Het |
| Zfp609 |
T |
C |
9: 65,610,782 (GRCm39) |
K727R |
possibly damaging |
Het |
| Zscan30 |
A |
C |
18: 24,104,737 (GRCm39) |
L37R |
noncoding transcript |
Het |
|
| Other mutations in Lrrn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Lrrn4
|
APN |
2 |
132,712,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00661:Lrrn4
|
APN |
2 |
132,712,588 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01542:Lrrn4
|
APN |
2 |
132,721,392 (GRCm39) |
missense |
probably benign |
|
|
IGL01584:Lrrn4
|
APN |
2 |
132,719,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01723:Lrrn4
|
APN |
2 |
132,711,981 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0270:Lrrn4
|
UTSW |
2 |
132,712,639 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0348:Lrrn4
|
UTSW |
2 |
132,712,363 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0400:Lrrn4
|
UTSW |
2 |
132,719,940 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0701:Lrrn4
|
UTSW |
2 |
132,712,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1465:Lrrn4
|
UTSW |
2 |
132,713,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Lrrn4
|
UTSW |
2 |
132,713,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Lrrn4
|
UTSW |
2 |
132,711,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Lrrn4
|
UTSW |
2 |
132,712,363 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3409:Lrrn4
|
UTSW |
2 |
132,721,781 (GRCm39) |
missense |
unknown |
|
|
R3743:Lrrn4
|
UTSW |
2 |
132,711,786 (GRCm39) |
splice site |
probably null |
|
|
R4678:Lrrn4
|
UTSW |
2 |
132,721,488 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5770:Lrrn4
|
UTSW |
2 |
132,714,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:Lrrn4
|
UTSW |
2 |
132,712,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6511:Lrrn4
|
UTSW |
2 |
132,712,246 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6880:Lrrn4
|
UTSW |
2 |
132,714,032 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7132:Lrrn4
|
UTSW |
2 |
132,721,613 (GRCm39) |
nonsense |
probably null |
|
|
R7273:Lrrn4
|
UTSW |
2 |
132,721,749 (GRCm39) |
missense |
unknown |
|
|
R7424:Lrrn4
|
UTSW |
2 |
132,711,663 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7710:Lrrn4
|
UTSW |
2 |
132,721,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7980:Lrrn4
|
UTSW |
2 |
132,720,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Lrrn4
|
UTSW |
2 |
132,719,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8489:Lrrn4
|
UTSW |
2 |
132,721,364 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8956:Lrrn4
|
UTSW |
2 |
132,714,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Lrrn4
|
UTSW |
2 |
132,712,552 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9342:Lrrn4
|
UTSW |
2 |
132,712,290 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGCCTCAAATGTGTCTG -3'
(R):5'- ACTATGTGGCAGAAGGACGATC -3'
Sequencing Primer
(F):5'- CTTGTACAGGCTAGGAAGTCACTC -3'
(R):5'- AGGACGATCTGGGAATCAATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation