Incidental Mutation 'R3754:Lrrc72'
| ID |
271362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc72
|
| Ensembl Gene |
ENSMUSG00000020545 |
| Gene Name |
leucine rich repeat containing 72 |
| Synonyms |
4933421E18Rik, 1700108M19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R3754 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
36258344-36303397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36262567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 42
(S42P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020853]
[ENSMUST00000122115]
[ENSMUST00000221155]
|
| AlphaFold |
A0A1Y7VMI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020853
AA Change: S42P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122115
AA Change: S94P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113517
Gene: ENSMUSG00000020545
AA Change: S94P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
1 |
69 |
6.6e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152817
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221155
AA Change: S224P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222145
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
T |
C |
4: 135,956,766 (GRCm39) |
|
probably null |
Het |
| Atp12a |
G |
A |
14: 56,610,045 (GRCm39) |
V182I |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,571,352 (GRCm39) |
D430V |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,805,264 (GRCm39) |
E1002G |
probably damaging |
Het |
| Itpkc |
G |
T |
7: 26,927,857 (GRCm39) |
P19Q |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,057,548 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myef2l |
G |
A |
3: 10,153,575 (GRCm39) |
V115I |
possibly damaging |
Het |
| Nek11 |
A |
T |
9: 105,191,917 (GRCm39) |
N164K |
probably damaging |
Het |
| Neurod2 |
A |
G |
11: 98,218,526 (GRCm39) |
S213P |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,391,782 (GRCm39) |
N179D |
probably damaging |
Het |
| Nr2f2 |
T |
C |
7: 70,007,769 (GRCm39) |
I238V |
probably benign |
Het |
| Rpl37 |
C |
A |
15: 5,146,770 (GRCm39) |
T2K |
possibly damaging |
Het |
| Slf2 |
A |
G |
19: 44,961,676 (GRCm39) |
D1065G |
probably benign |
Het |
| Smim5 |
T |
C |
11: 115,796,549 (GRCm39) |
C57R |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,065,513 (GRCm39) |
V236D |
probably damaging |
Het |
| Teddm3 |
C |
T |
16: 20,971,898 (GRCm39) |
D224N |
possibly damaging |
Het |
| Tm2d2 |
G |
A |
8: 25,510,494 (GRCm39) |
V118I |
probably damaging |
Het |
| Ttc22 |
C |
A |
4: 106,496,278 (GRCm39) |
R443S |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,792,464 (GRCm39) |
I368T |
probably benign |
Het |
| Xrn1 |
G |
T |
9: 95,849,841 (GRCm39) |
D129Y |
probably damaging |
Het |
| Zfp109 |
A |
G |
7: 23,929,181 (GRCm39) |
M76T |
probably benign |
Het |
| Znrf1 |
G |
A |
8: 112,345,843 (GRCm39) |
V76M |
probably damaging |
Het |
|
| Other mutations in Lrrc72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Lrrc72
|
APN |
12 |
36,271,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01573:Lrrc72
|
APN |
12 |
36,262,561 (GRCm39) |
splice site |
probably null |
|
|
R1905:Lrrc72
|
UTSW |
12 |
36,258,661 (GRCm39) |
splice site |
probably null |
|
|
R4429:Lrrc72
|
UTSW |
12 |
36,258,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Lrrc72
|
UTSW |
12 |
36,258,603 (GRCm39) |
nonsense |
probably null |
|
|
R6895:Lrrc72
|
UTSW |
12 |
36,259,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7263:Lrrc72
|
UTSW |
12 |
36,258,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Lrrc72
|
UTSW |
12 |
36,272,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Lrrc72
|
UTSW |
12 |
36,262,692 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8217:Lrrc72
|
UTSW |
12 |
36,258,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8728:Lrrc72
|
UTSW |
12 |
36,258,656 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8973:Lrrc72
|
UTSW |
12 |
36,303,293 (GRCm39) |
missense |
probably benign |
|
|
R9747:Lrrc72
|
UTSW |
12 |
36,264,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V8831:Lrrc72
|
UTSW |
12 |
36,258,656 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1177:Lrrc72
|
UTSW |
12 |
36,297,692 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAATCATGTAACATGGGTGAGG -3'
(R):5'- TGGTCAGGCAAGGCAGATTG -3'
Sequencing Primer
(F):5'- GGGAAAGCGAAAATTACATTATTCAC -3'
(R):5'- GACTCGGTATGCTTTTGTTAA -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation