Incidental Mutation 'R9152:Lrit2'
ID |
695113 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrit2
|
Ensembl Gene |
ENSMUSG00000043418 |
Gene Name |
leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 |
Synonyms |
A930010E21Rik, Lrrc22 |
MMRRC Submission |
068939-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R9152 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
36789886-36795700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 36794187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 417
(T417I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057176]
|
AlphaFold |
Q6PFC5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057176
AA Change: T417I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000056642 Gene: ENSMUSG00000043418 AA Change: T417I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
LRRNT
|
23 |
59 |
7.74e-2 |
SMART |
LRR
|
78 |
101 |
9.96e-1 |
SMART |
LRR_TYP
|
102 |
125 |
8.94e-3 |
SMART |
LRR
|
126 |
149 |
2.03e1 |
SMART |
LRR_TYP
|
150 |
173 |
7.67e-2 |
SMART |
LRRCT
|
200 |
251 |
7.12e-7 |
SMART |
IGc2
|
265 |
334 |
2.05e-9 |
SMART |
FN3
|
362 |
443 |
5.94e0 |
SMART |
transmembrane domain
|
463 |
485 |
N/A |
INTRINSIC |
low complexity region
|
538 |
546 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
C |
A |
13: 104,613,275 (GRCm39) |
R1009S |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,609,439 (GRCm39) |
|
probably null |
Het |
Ap3b1 |
T |
A |
13: 94,630,239 (GRCm39) |
D831E |
unknown |
Het |
Arsa |
G |
A |
15: 89,359,995 (GRCm39) |
|
probably benign |
Het |
Clrn2 |
T |
C |
5: 45,621,254 (GRCm39) |
I216T |
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,795,463 (GRCm39) |
K1066R |
probably benign |
Het |
Cul4a |
T |
C |
8: 13,155,799 (GRCm39) |
M15T |
probably benign |
Het |
Defb38 |
C |
T |
8: 19,076,558 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,021,457 (GRCm39) |
D323G |
probably damaging |
Het |
Dsg1c |
T |
A |
18: 20,416,329 (GRCm39) |
D743E |
probably benign |
Het |
Eif1ad11 |
T |
C |
12: 87,993,946 (GRCm39) |
L58P |
probably damaging |
Het |
Elf1 |
T |
C |
14: 79,808,352 (GRCm39) |
L268P |
probably damaging |
Het |
Helq |
G |
T |
5: 100,918,325 (GRCm39) |
A863D |
probably benign |
Het |
Hfm1 |
T |
A |
5: 106,989,611 (GRCm39) |
R1368S |
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,249,876 (GRCm39) |
G1379E |
possibly damaging |
Het |
Kcnq5 |
A |
T |
1: 21,539,692 (GRCm39) |
|
probably null |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Macroh2a1 |
CTTACCTCCAGCT |
C |
13: 56,232,004 (GRCm39) |
|
probably null |
Het |
Mgat2 |
G |
A |
12: 69,232,497 (GRCm39) |
W357* |
probably null |
Het |
Mlkl |
A |
G |
8: 112,046,403 (GRCm39) |
L290P |
probably damaging |
Het |
Or1j11 |
T |
A |
2: 36,311,439 (GRCm39) |
S10T |
possibly damaging |
Het |
Or2k2 |
T |
C |
4: 58,785,114 (GRCm39) |
I203V |
probably benign |
Het |
Or7g32 |
A |
T |
9: 19,408,448 (GRCm39) |
I135F |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 82,022,589 (GRCm39) |
V853A |
|
Het |
Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
G |
A |
7: 116,017,004 (GRCm39) |
S251L |
probably benign |
Het |
Prkch |
T |
C |
12: 73,738,418 (GRCm39) |
M175T |
possibly damaging |
Het |
Psg22 |
A |
T |
7: 18,460,646 (GRCm39) |
Q425L |
probably damaging |
Het |
Qpctl |
A |
G |
7: 18,883,025 (GRCm39) |
L29P |
probably damaging |
Het |
Ranbp10 |
A |
T |
8: 106,499,140 (GRCm39) |
L549M |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,600,697 (GRCm39) |
E1568G |
unknown |
Het |
Rrh |
A |
T |
3: 129,606,903 (GRCm39) |
D173E |
probably benign |
Het |
Scart2 |
A |
T |
7: 139,877,256 (GRCm39) |
N857I |
possibly damaging |
Het |
Selplg |
A |
G |
5: 113,957,467 (GRCm39) |
S280P |
probably benign |
Het |
Septin11 |
T |
C |
5: 93,287,329 (GRCm39) |
S17P |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,529,068 (GRCm39) |
V1775A |
probably damaging |
Het |
Tep1 |
A |
C |
14: 51,104,162 (GRCm39) |
V244G |
probably benign |
Het |
Tex24 |
A |
C |
8: 27,835,379 (GRCm39) |
E302D |
possibly damaging |
Het |
Trav18 |
A |
G |
14: 54,069,011 (GRCm39) |
T19A |
probably benign |
Het |
Trim56 |
T |
C |
5: 137,143,387 (GRCm39) |
D43G |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,029,056 (GRCm39) |
T1869A |
probably damaging |
Het |
Usp22 |
A |
G |
11: 61,049,201 (GRCm39) |
C383R |
probably damaging |
Het |
Zdhhc22 |
G |
A |
12: 87,035,192 (GRCm39) |
P87S |
probably benign |
Het |
|
Other mutations in Lrit2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00327:Lrit2
|
APN |
14 |
36,793,920 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01475:Lrit2
|
APN |
14 |
36,791,051 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02080:Lrit2
|
APN |
14 |
36,791,031 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02141:Lrit2
|
APN |
14 |
36,790,031 (GRCm39) |
unclassified |
probably benign |
|
IGL02479:Lrit2
|
APN |
14 |
36,794,235 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02715:Lrit2
|
APN |
14 |
36,794,505 (GRCm39) |
missense |
probably benign |
0.00 |
R0114:Lrit2
|
UTSW |
14 |
36,790,002 (GRCm39) |
splice site |
probably null |
|
R1344:Lrit2
|
UTSW |
14 |
36,790,513 (GRCm39) |
missense |
probably benign |
0.32 |
R1529:Lrit2
|
UTSW |
14 |
36,790,784 (GRCm39) |
missense |
probably benign |
0.12 |
R1641:Lrit2
|
UTSW |
14 |
36,791,105 (GRCm39) |
missense |
probably benign |
0.34 |
R2105:Lrit2
|
UTSW |
14 |
36,793,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R4365:Lrit2
|
UTSW |
14 |
36,794,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R4645:Lrit2
|
UTSW |
14 |
36,794,432 (GRCm39) |
missense |
probably benign |
|
R5226:Lrit2
|
UTSW |
14 |
36,794,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R5377:Lrit2
|
UTSW |
14 |
36,791,140 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5387:Lrit2
|
UTSW |
14 |
36,794,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R5840:Lrit2
|
UTSW |
14 |
36,790,962 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5881:Lrit2
|
UTSW |
14 |
36,794,192 (GRCm39) |
missense |
probably benign |
0.02 |
R6499:Lrit2
|
UTSW |
14 |
36,790,767 (GRCm39) |
missense |
probably damaging |
0.98 |
R6863:Lrit2
|
UTSW |
14 |
36,793,901 (GRCm39) |
missense |
probably damaging |
0.99 |
R7307:Lrit2
|
UTSW |
14 |
36,794,156 (GRCm39) |
missense |
probably benign |
0.00 |
R7316:Lrit2
|
UTSW |
14 |
36,790,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Lrit2
|
UTSW |
14 |
36,790,867 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7525:Lrit2
|
UTSW |
14 |
36,794,450 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7640:Lrit2
|
UTSW |
14 |
36,794,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R8228:Lrit2
|
UTSW |
14 |
36,791,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R8397:Lrit2
|
UTSW |
14 |
36,791,034 (GRCm39) |
missense |
probably damaging |
0.98 |
R8815:Lrit2
|
UTSW |
14 |
36,794,487 (GRCm39) |
missense |
probably benign |
0.00 |
R9099:Lrit2
|
UTSW |
14 |
36,790,812 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9193:Lrit2
|
UTSW |
14 |
36,794,550 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9309:Lrit2
|
UTSW |
14 |
36,793,848 (GRCm39) |
missense |
probably benign |
0.03 |
R9517:Lrit2
|
UTSW |
14 |
36,794,272 (GRCm39) |
nonsense |
probably null |
|
R9670:Lrit2
|
UTSW |
14 |
36,790,115 (GRCm39) |
nonsense |
probably null |
|
R9764:Lrit2
|
UTSW |
14 |
36,790,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGTCAGTGCCTATGTTGAC -3'
(R):5'- ACTGAAGTTGTATGGACCCTG -3'
Sequencing Primer
(F):5'- CAGTGCCTATGTTGACCTACGAG -3'
(R):5'- AAGTTGTATGGACCCTGGGATAC -3'
|
Posted On |
2022-01-20 |