Incidental Mutation 'R2296:Lrrc36'
| ID |
245178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc36
|
| Ensembl Gene |
ENSMUSG00000054320 |
| Gene Name |
leucine rich repeat containing 36 |
| Synonyms |
|
| MMRRC Submission |
040295-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R2296 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106140230-106190718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 106187651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 522
(D522E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067305]
[ENSMUST00000109355]
[ENSMUST00000213547]
[ENSMUST00000216765]
|
| AlphaFold |
Q3V0M2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067305
AA Change: D522E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066345
Gene: ENSMUSG00000054320
AA Change: D522E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
377 |
389 |
N/A |
INTRINSIC |
|
coiled coil region
|
478 |
550 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109355
AA Change: D645E
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104979
Gene: ENSMUSG00000054320
AA Change: D645E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
24 |
84 |
2.9e-8 |
PFAM |
|
low complexity region
|
500 |
512 |
N/A |
INTRINSIC |
|
coiled coil region
|
601 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213547
AA Change: D643E
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216765
AA Change: D643E
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,582,275 (GRCm39) |
E68G |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,044,879 (GRCm39) |
D820G |
probably damaging |
Het |
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
C |
T |
8: 73,178,469 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,299,492 (GRCm39) |
L344P |
probably damaging |
Het |
| Cop1 |
G |
A |
1: 159,072,220 (GRCm39) |
V109M |
possibly damaging |
Het |
| Dennd4b |
T |
A |
3: 90,182,821 (GRCm39) |
N879K |
probably damaging |
Het |
| Fam13b |
T |
C |
18: 34,627,814 (GRCm39) |
D129G |
possibly damaging |
Het |
| Fam222a |
C |
A |
5: 114,749,027 (GRCm39) |
H74Q |
possibly damaging |
Het |
| Gata5 |
A |
G |
2: 179,970,113 (GRCm39) |
M278T |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Iigp1c |
T |
A |
18: 60,378,542 (GRCm39) |
C26S |
probably benign |
Het |
| Inpp5k |
T |
G |
11: 75,530,313 (GRCm39) |
L251R |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nras |
T |
A |
3: 102,966,350 (GRCm39) |
|
probably null |
Het |
| Nudt12 |
A |
G |
17: 59,317,044 (GRCm39) |
V201A |
possibly damaging |
Het |
| Phf2 |
T |
C |
13: 48,988,754 (GRCm39) |
E39G |
unknown |
Het |
| Serpinb3a |
A |
T |
1: 106,975,291 (GRCm39) |
V172D |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,262,481 (GRCm39) |
I559T |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,039,728 (GRCm39) |
S1304T |
possibly damaging |
Het |
| Xrcc5 |
A |
T |
1: 72,385,485 (GRCm39) |
K525N |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,467 (GRCm39) |
V705D |
probably damaging |
Het |
|
| Other mutations in Lrrc36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1509:Lrrc36
|
UTSW |
8 |
106,187,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Lrrc36
|
UTSW |
8 |
106,176,273 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1800:Lrrc36
|
UTSW |
8 |
106,176,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4030:Lrrc36
|
UTSW |
8 |
106,153,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Lrrc36
|
UTSW |
8 |
106,154,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Lrrc36
|
UTSW |
8 |
106,176,246 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4755:Lrrc36
|
UTSW |
8 |
106,178,776 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4786:Lrrc36
|
UTSW |
8 |
106,181,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4828:Lrrc36
|
UTSW |
8 |
106,181,862 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4911:Lrrc36
|
UTSW |
8 |
106,153,567 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5135:Lrrc36
|
UTSW |
8 |
106,190,530 (GRCm39) |
missense |
probably benign |
|
|
R5221:Lrrc36
|
UTSW |
8 |
106,170,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5354:Lrrc36
|
UTSW |
8 |
106,151,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5635:Lrrc36
|
UTSW |
8 |
106,184,205 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6793:Lrrc36
|
UTSW |
8 |
106,185,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Lrrc36
|
UTSW |
8 |
106,152,021 (GRCm39) |
splice site |
probably null |
|
|
R6986:Lrrc36
|
UTSW |
8 |
106,185,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7231:Lrrc36
|
UTSW |
8 |
106,187,689 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7326:Lrrc36
|
UTSW |
8 |
106,176,401 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7349:Lrrc36
|
UTSW |
8 |
106,178,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Lrrc36
|
UTSW |
8 |
106,176,130 (GRCm39) |
missense |
probably benign |
|
|
R7751:Lrrc36
|
UTSW |
8 |
106,178,667 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7988:Lrrc36
|
UTSW |
8 |
106,178,718 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8145:Lrrc36
|
UTSW |
8 |
106,170,396 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8195:Lrrc36
|
UTSW |
8 |
106,178,717 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8380:Lrrc36
|
UTSW |
8 |
106,153,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Lrrc36
|
UTSW |
8 |
106,176,168 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8986:Lrrc36
|
UTSW |
8 |
106,176,093 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
U24488:Lrrc36
|
UTSW |
8 |
106,176,384 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAACGCCACATTCTTGTC -3'
(R):5'- CAGGTGTGGAGTCTAGCTTC -3'
Sequencing Primer
(F):5'- GTCAAATATCCCTGGTCTCCAAGGG -3'
(R):5'- TGTGGAGTCTAGCTTCCAAGAAAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation