Incidental Mutation 'R0565:Lrrc8c'
ID |
46114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc8c
|
Ensembl Gene |
ENSMUSG00000054720 |
Gene Name |
leucine rich repeat containing 8 family, member C |
Synonyms |
E430036I04Rik |
MMRRC Submission |
038756-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0565 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105667254-105760884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 105754894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 223
(D223A)
|
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: D223A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066015 Gene: ENSMUSG00000054720 AA Change: D223A
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 |
|
Meta Mutation Damage Score |
0.5158 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
100% (73/73) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,682,200 (GRCm39) |
H1010L |
probably benign |
Het |
A2ml1 |
C |
A |
6: 128,545,706 (GRCm39) |
E474* |
probably null |
Het |
Agtr1b |
T |
C |
3: 20,369,838 (GRCm39) |
H256R |
probably damaging |
Het |
Amacr |
C |
T |
15: 10,982,032 (GRCm39) |
A46V |
possibly damaging |
Het |
Atosb |
A |
T |
4: 43,034,647 (GRCm39) |
|
probably benign |
Het |
Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
Caskin2 |
T |
C |
11: 115,691,842 (GRCm39) |
E981G |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,411,042 (GRCm39) |
|
probably benign |
Het |
Cd180 |
A |
G |
13: 102,839,382 (GRCm39) |
|
probably benign |
Het |
Cd200l1 |
T |
A |
16: 45,264,536 (GRCm39) |
|
probably benign |
Het |
Cemip |
G |
A |
7: 83,613,318 (GRCm39) |
H627Y |
probably damaging |
Het |
Cep131 |
G |
T |
11: 119,964,588 (GRCm39) |
H289Q |
probably damaging |
Het |
Cep350 |
G |
A |
1: 155,836,941 (GRCm39) |
|
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,840,425 (GRCm39) |
C169S |
probably benign |
Het |
Cps1 |
A |
T |
1: 67,205,608 (GRCm39) |
T544S |
possibly damaging |
Het |
Cul7 |
T |
C |
17: 46,962,929 (GRCm39) |
S187P |
probably damaging |
Het |
Dhx40 |
C |
A |
11: 86,661,993 (GRCm39) |
R688L |
probably damaging |
Het |
E330034G19Rik |
C |
A |
14: 24,356,985 (GRCm39) |
Q174K |
probably benign |
Het |
Efna5 |
T |
C |
17: 63,188,031 (GRCm39) |
Y32C |
probably damaging |
Het |
Ethe1 |
A |
G |
7: 24,307,314 (GRCm39) |
H176R |
probably benign |
Het |
Exoc3 |
A |
G |
13: 74,330,394 (GRCm39) |
|
probably null |
Het |
Fam135b |
T |
A |
15: 71,362,686 (GRCm39) |
N232Y |
possibly damaging |
Het |
Fndc9 |
C |
T |
11: 46,128,984 (GRCm39) |
L168F |
probably damaging |
Het |
Fpr-rs3 |
G |
A |
17: 20,844,283 (GRCm39) |
A286V |
probably damaging |
Het |
Immt |
T |
A |
6: 71,823,467 (GRCm39) |
|
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,648,800 (GRCm39) |
|
probably benign |
Het |
Ipo8 |
A |
T |
6: 148,688,221 (GRCm39) |
L747H |
probably damaging |
Het |
Ireb2 |
A |
T |
9: 54,807,267 (GRCm39) |
N610Y |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,054,592 (GRCm39) |
V1280A |
probably damaging |
Het |
Kcnj3 |
T |
A |
2: 55,485,276 (GRCm39) |
M458K |
probably benign |
Het |
Kl |
A |
G |
5: 150,904,409 (GRCm39) |
K387R |
possibly damaging |
Het |
L3mbtl2 |
C |
A |
15: 81,568,487 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
A |
C |
12: 31,348,914 (GRCm39) |
I649L |
probably benign |
Het |
Lipm |
A |
C |
19: 34,093,906 (GRCm39) |
L274F |
probably benign |
Het |
Lrfn3 |
A |
G |
7: 30,060,216 (GRCm39) |
V3A |
probably benign |
Het |
Ltn1 |
C |
A |
16: 87,212,898 (GRCm39) |
K554N |
probably benign |
Het |
Mertk |
T |
C |
2: 128,613,403 (GRCm39) |
I473T |
probably benign |
Het |
Mfsd12 |
C |
A |
10: 81,197,243 (GRCm39) |
N245K |
probably benign |
Het |
Mmp16 |
A |
G |
4: 17,987,705 (GRCm39) |
D89G |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,087,394 (GRCm39) |
N1083K |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,999,294 (GRCm39) |
A1290V |
probably benign |
Het |
Nefm |
A |
G |
14: 68,362,070 (GRCm39) |
S65P |
probably damaging |
Het |
Nt5c2 |
C |
T |
19: 46,886,064 (GRCm39) |
R220H |
probably damaging |
Het |
Or4c102 |
T |
A |
2: 88,422,353 (GRCm39) |
D68E |
probably benign |
Het |
Osbpl1a |
A |
T |
18: 12,892,501 (GRCm39) |
S438R |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,453,820 (GRCm39) |
S67P |
possibly damaging |
Het |
Per3 |
A |
T |
4: 151,118,409 (GRCm39) |
I228N |
probably damaging |
Het |
Pnpla7 |
T |
G |
2: 24,870,129 (GRCm39) |
|
probably benign |
Het |
Ppp1r15b |
G |
T |
1: 133,064,391 (GRCm39) |
|
probably benign |
Het |
Psmd2 |
G |
T |
16: 20,479,176 (GRCm39) |
L678F |
probably null |
Het |
Ptch2 |
A |
G |
4: 116,963,340 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,312,158 (GRCm39) |
D959E |
probably benign |
Het |
Rph3al |
C |
T |
11: 75,724,227 (GRCm39) |
|
probably null |
Het |
Sec31b |
T |
A |
19: 44,512,992 (GRCm39) |
E499V |
probably damaging |
Het |
Sel1l |
T |
C |
12: 91,778,663 (GRCm39) |
I667M |
probably benign |
Het |
Sel1l |
C |
A |
12: 91,780,719 (GRCm39) |
V641L |
possibly damaging |
Het |
Slc7a1 |
T |
A |
5: 148,288,879 (GRCm39) |
I123F |
probably damaging |
Het |
Smarca2 |
G |
A |
19: 26,659,275 (GRCm39) |
R855Q |
possibly damaging |
Het |
Sphk1 |
G |
T |
11: 116,427,184 (GRCm39) |
|
probably benign |
Het |
Spink12 |
C |
A |
18: 44,237,755 (GRCm39) |
S11* |
probably null |
Het |
Sstr2 |
A |
T |
11: 113,516,445 (GRCm39) |
I342F |
probably benign |
Het |
Stxbp1 |
T |
C |
2: 32,709,860 (GRCm39) |
T78A |
probably benign |
Het |
Trim11 |
T |
A |
11: 58,881,410 (GRCm39) |
S434R |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,266,812 (GRCm39) |
E1113G |
probably damaging |
Het |
Upb1 |
T |
A |
10: 75,264,188 (GRCm39) |
|
probably benign |
Het |
Vit |
T |
A |
17: 78,932,266 (GRCm39) |
C458S |
probably damaging |
Het |
Vmn1r58 |
T |
C |
7: 5,414,165 (GRCm39) |
I22V |
probably benign |
Het |
Vps25 |
T |
C |
11: 101,149,731 (GRCm39) |
|
probably benign |
Het |
Wbp2 |
G |
T |
11: 115,973,211 (GRCm39) |
D65E |
possibly damaging |
Het |
Wdr72 |
A |
G |
9: 74,124,588 (GRCm39) |
D980G |
probably benign |
Het |
Xkr8 |
A |
C |
4: 132,458,228 (GRCm39) |
|
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 |
IGL02268:Lrrc8c
|
APN |
5 |
105,755,764 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAACCAGATGTGCTACGAGCGAG -3'
(R):5'- TGGAAACCAGGGCACTGTTGTAGG -3'
Sequencing Primer
(F):5'- ATGCTCTGTAGCAACTTCTGG -3'
(R):5'- CACTGTTGTAGGCAATGATGATTAG -3'
|
Posted On |
2013-06-11 |