Incidental Mutation 'IGL02268:Lrrc8c'
| ID |
287002 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc8c
|
| Ensembl Gene |
ENSMUSG00000054720 |
| Gene Name |
leucine rich repeat containing 8 family, member C |
| Synonyms |
E430036I04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02268
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105667254-105760884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105755764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 513
(L513P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067924]
[ENSMUST00000153754]
|
| AlphaFold |
Q8R502 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067924
AA Change: L513P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: L513P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pannexin_like
|
1 |
338 |
5.7e-152 |
PFAM |
|
low complexity region
|
398 |
407 |
N/A |
INTRINSIC |
|
LRR
|
588 |
611 |
3.97e0 |
SMART |
|
LRR
|
613 |
635 |
1.81e2 |
SMART |
|
LRR
|
636 |
658 |
2.2e1 |
SMART |
|
LRR_TYP
|
659 |
682 |
1.45e-2 |
SMART |
|
LRR
|
684 |
703 |
3.56e2 |
SMART |
|
LRR
|
705 |
728 |
2.92e1 |
SMART |
|
LRR
|
751 |
774 |
1.09e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153754
|
| SMART Domains |
Protein: ENSMUSP00000114899
Gene: ENSMUSG00000054720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3733
|
1 |
65 |
4.8e-35 |
PFAM |
|
low complexity region
|
78 |
93 |
N/A |
INTRINSIC |
|
Pfam:DUF3733
|
99 |
158 |
1.7e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in body weight, white adipose tissue weight, and insulin resistance on a high-fat diet, indicating protection from diet-induced obesity and insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
C |
T |
10: 28,862,242 (GRCm39) |
C16Y |
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,240,626 (GRCm39) |
L830F |
probably benign |
Het |
| Apcdd1 |
T |
C |
18: 63,083,259 (GRCm39) |
V363A |
probably damaging |
Het |
| Atosb |
T |
A |
4: 43,036,468 (GRCm39) |
R88* |
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,809,294 (GRCm39) |
I260V |
possibly damaging |
Het |
| Cass4 |
T |
A |
2: 172,268,962 (GRCm39) |
M350K |
possibly damaging |
Het |
| Ccnjl |
A |
G |
11: 43,470,615 (GRCm39) |
T128A |
probably benign |
Het |
| Cd6 |
C |
T |
19: 10,773,752 (GRCm39) |
G361D |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 164,965,639 (GRCm39) |
|
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,746,572 (GRCm39) |
F475Y |
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,245,380 (GRCm39) |
T44S |
probably damaging |
Het |
| Cplx3 |
C |
T |
9: 57,509,741 (GRCm39) |
E86K |
possibly damaging |
Het |
| Crbn |
A |
G |
6: 106,772,004 (GRCm39) |
V100A |
possibly damaging |
Het |
| D430041D05Rik |
C |
A |
2: 104,071,500 (GRCm39) |
V1267L |
possibly damaging |
Het |
| Ecrg4 |
T |
A |
1: 43,770,111 (GRCm39) |
C23S |
probably damaging |
Het |
| Elapor1 |
C |
A |
3: 108,375,113 (GRCm39) |
A585S |
probably benign |
Het |
| F930017D23Rik |
A |
G |
10: 43,480,405 (GRCm39) |
|
noncoding transcript |
Het |
| Fastkd3 |
A |
G |
13: 68,731,796 (GRCm39) |
D39G |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,733,490 (GRCm39) |
S912R |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ifna9 |
A |
T |
4: 88,510,591 (GRCm39) |
L11* |
probably null |
Het |
| Igsf10 |
A |
T |
3: 59,238,573 (GRCm39) |
L536* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,861,673 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,593,144 (GRCm39) |
I215K |
probably damaging |
Het |
| Kdm4c |
A |
C |
4: 74,291,953 (GRCm39) |
I857L |
possibly damaging |
Het |
| Kptn |
A |
T |
7: 15,857,786 (GRCm39) |
H229L |
probably benign |
Het |
| Krt32 |
A |
T |
11: 99,978,967 (GRCm39) |
M29K |
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,877,112 (GRCm39) |
|
probably benign |
Het |
| Lpcat2b |
A |
C |
5: 107,581,982 (GRCm39) |
D437A |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,997 (GRCm39) |
V407A |
possibly damaging |
Het |
| Myo5c |
C |
T |
9: 75,153,519 (GRCm39) |
P135L |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,942,877 (GRCm39) |
V218M |
possibly damaging |
Het |
| Myof |
T |
A |
19: 37,963,311 (GRCm39) |
I429F |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,455,398 (GRCm39) |
D1204G |
possibly damaging |
Het |
| Nckap1 |
G |
A |
2: 80,358,962 (GRCm39) |
P560S |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,044,713 (GRCm39) |
G1545D |
probably damaging |
Het |
| Ntrk1 |
G |
A |
3: 87,688,838 (GRCm39) |
H572Y |
probably damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,551 (GRCm39) |
F164L |
probably benign |
Het |
| Or7e177 |
T |
C |
9: 20,211,588 (GRCm39) |
S31P |
probably damaging |
Het |
| Pate8 |
T |
C |
9: 36,493,166 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,178,504 (GRCm39) |
D587V |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,928,609 (GRCm39) |
Y882C |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,606,704 (GRCm39) |
*1074C |
probably null |
Het |
| Plcxd1 |
T |
C |
5: 110,248,140 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
A |
G |
7: 138,474,700 (GRCm39) |
N27S |
probably null |
Het |
| Prkar2a |
A |
G |
9: 108,624,152 (GRCm39) |
M390V |
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,796,695 (GRCm39) |
T18A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,329,475 (GRCm39) |
|
probably benign |
Het |
| Rasl12 |
T |
C |
9: 65,305,946 (GRCm39) |
S34P |
probably damaging |
Het |
| Rpusd3 |
A |
T |
6: 113,395,818 (GRCm39) |
L65Q |
possibly damaging |
Het |
| Rtf2 |
A |
G |
2: 172,310,639 (GRCm39) |
K290R |
probably damaging |
Het |
| Rwdd4a |
T |
A |
8: 48,003,731 (GRCm39) |
L179* |
probably null |
Het |
| Scgb1b24 |
A |
G |
7: 33,444,388 (GRCm39) |
E87G |
possibly damaging |
Het |
| Sgo2a |
A |
G |
1: 58,056,881 (GRCm39) |
I1022V |
probably benign |
Het |
| Smg1 |
A |
C |
7: 117,781,764 (GRCm39) |
I1174M |
probably benign |
Het |
| Spata17 |
A |
T |
1: 186,872,595 (GRCm39) |
M72K |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 122,910,632 (GRCm39) |
P338S |
probably damaging |
Het |
| Tpi1 |
G |
A |
6: 124,791,087 (GRCm39) |
T50I |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,867,362 (GRCm39) |
E354G |
probably damaging |
Het |
| Uba2 |
A |
G |
7: 33,842,161 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
G |
A |
6: 119,914,334 (GRCm39) |
R1823* |
probably null |
Het |
| Zfp248 |
A |
C |
6: 118,430,801 (GRCm39) |
|
probably benign |
Het |
| Zfp51 |
A |
T |
17: 21,683,681 (GRCm39) |
K99* |
probably null |
Het |
|
| Other mutations in Lrrc8c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Lrrc8c
|
APN |
5 |
105,755,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00736:Lrrc8c
|
APN |
5 |
105,754,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00822:Lrrc8c
|
APN |
5 |
105,756,174 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02009:Lrrc8c
|
APN |
5 |
105,755,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Lrrc8c
|
APN |
5 |
105,755,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02266:Lrrc8c
|
APN |
5 |
105,756,114 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02487:Lrrc8c
|
APN |
5 |
105,754,457 (GRCm39) |
missense |
probably benign |
|
|
IGL02536:Lrrc8c
|
APN |
5 |
105,755,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02672:Lrrc8c
|
APN |
5 |
105,755,224 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02860:Lrrc8c
|
APN |
5 |
105,727,481 (GRCm39) |
splice site |
probably benign |
|
|
IGL03395:Lrrc8c
|
APN |
5 |
105,754,495 (GRCm39) |
missense |
probably benign |
|
|
Hand_grenade
|
UTSW |
5 |
105,754,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Horseshoe
|
UTSW |
5 |
105,755,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0014:Lrrc8c
|
UTSW |
5 |
105,755,110 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4504001:Lrrc8c
|
UTSW |
5 |
105,756,403 (GRCm39) |
missense |
probably benign |
|
|
PIT4651001:Lrrc8c
|
UTSW |
5 |
105,756,189 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0196:Lrrc8c
|
UTSW |
5 |
105,754,636 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0454:Lrrc8c
|
UTSW |
5 |
105,754,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Lrrc8c
|
UTSW |
5 |
105,754,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0673:Lrrc8c
|
UTSW |
5 |
105,755,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0722:Lrrc8c
|
UTSW |
5 |
105,727,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0815:Lrrc8c
|
UTSW |
5 |
105,756,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Lrrc8c
|
UTSW |
5 |
105,754,702 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1411:Lrrc8c
|
UTSW |
5 |
105,756,045 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1486:Lrrc8c
|
UTSW |
5 |
105,755,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1551:Lrrc8c
|
UTSW |
5 |
105,756,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Lrrc8c
|
UTSW |
5 |
105,754,623 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1714:Lrrc8c
|
UTSW |
5 |
105,755,157 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1770:Lrrc8c
|
UTSW |
5 |
105,754,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Lrrc8c
|
UTSW |
5 |
105,755,224 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2139:Lrrc8c
|
UTSW |
5 |
105,754,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Lrrc8c
|
UTSW |
5 |
105,755,755 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4670:Lrrc8c
|
UTSW |
5 |
105,756,240 (GRCm39) |
missense |
probably benign |
|
|
R4897:Lrrc8c
|
UTSW |
5 |
105,755,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4968:Lrrc8c
|
UTSW |
5 |
105,754,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Lrrc8c
|
UTSW |
5 |
105,755,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Lrrc8c
|
UTSW |
5 |
105,755,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5804:Lrrc8c
|
UTSW |
5 |
105,727,423 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5918:Lrrc8c
|
UTSW |
5 |
105,756,117 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6293:Lrrc8c
|
UTSW |
5 |
105,754,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6303:Lrrc8c
|
UTSW |
5 |
105,756,475 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6304:Lrrc8c
|
UTSW |
5 |
105,756,475 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7271:Lrrc8c
|
UTSW |
5 |
105,755,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7341:Lrrc8c
|
UTSW |
5 |
105,755,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Lrrc8c
|
UTSW |
5 |
105,755,701 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7630:Lrrc8c
|
UTSW |
5 |
105,755,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7789:Lrrc8c
|
UTSW |
5 |
105,755,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8128:Lrrc8c
|
UTSW |
5 |
105,755,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8229:Lrrc8c
|
UTSW |
5 |
105,754,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8247:Lrrc8c
|
UTSW |
5 |
105,756,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Lrrc8c
|
UTSW |
5 |
105,755,733 (GRCm39) |
missense |
probably benign |
|
|
R8890:Lrrc8c
|
UTSW |
5 |
105,754,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Lrrc8c
|
UTSW |
5 |
105,756,356 (GRCm39) |
nonsense |
probably null |
|
|
R9379:Lrrc8c
|
UTSW |
5 |
105,756,356 (GRCm39) |
nonsense |
probably null |
|
|
R9416:Lrrc8c
|
UTSW |
5 |
105,756,163 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation