Incidental Mutation 'R1714:Lrrc8c'
| ID |
190852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8c
|
| Ensembl Gene |
ENSMUSG00000054720 |
| Gene Name |
leucine rich repeat containing 8 family, member C |
| Synonyms |
E430036I04Rik |
| MMRRC Submission |
039747-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105667254-105760884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105755157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 311
(T311A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067924]
[ENSMUST00000153754]
|
| AlphaFold |
Q8R502 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067924
AA Change: T311A
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: T311A
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,464,479 (GRCm39) |
T892I |
possibly damaging |
Het |
| Abcb11 |
A |
C |
2: 69,136,925 (GRCm39) |
F179V |
probably damaging |
Het |
| Adgrg6 |
G |
T |
10: 14,315,514 (GRCm39) |
Q597K |
possibly damaging |
Het |
| Ankmy1 |
G |
T |
1: 92,812,916 (GRCm39) |
Y464* |
probably null |
Het |
| Apba1 |
G |
A |
19: 23,922,316 (GRCm39) |
E795K |
possibly damaging |
Het |
| Aqp12 |
T |
A |
1: 92,934,681 (GRCm39) |
V186D |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
| Cdc42se2 |
A |
T |
11: 54,631,112 (GRCm39) |
S2R |
possibly damaging |
Het |
| Chd9 |
A |
C |
8: 91,760,853 (GRCm39) |
|
probably benign |
Het |
| Clk4 |
C |
T |
11: 51,171,245 (GRCm39) |
H219Y |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,984,559 (GRCm39) |
Y417H |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,833,994 (GRCm39) |
F932I |
possibly damaging |
Het |
| Cxxc1 |
C |
A |
18: 74,352,934 (GRCm39) |
R415S |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,813,400 (GRCm39) |
A182V |
probably benign |
Het |
| Ddx11 |
T |
G |
17: 66,455,754 (GRCm39) |
W718G |
probably damaging |
Het |
| Dmd |
A |
C |
X: 83,008,356 (GRCm39) |
T2069P |
probably benign |
Het |
| Dnai1 |
T |
C |
4: 41,632,164 (GRCm39) |
F533L |
probably benign |
Het |
| Dnajc5b |
A |
T |
3: 19,633,265 (GRCm39) |
R163* |
probably null |
Het |
| Dynll2 |
T |
A |
11: 87,874,838 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
A |
G |
1: 44,206,499 (GRCm39) |
T471A |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,016,435 (GRCm39) |
D563G |
probably benign |
Het |
| Fbxo34 |
A |
G |
14: 47,766,658 (GRCm39) |
Y6C |
probably damaging |
Het |
| Fcrl5 |
T |
A |
3: 87,353,713 (GRCm39) |
S353T |
probably damaging |
Het |
| Gabrb3 |
A |
T |
7: 57,415,176 (GRCm39) |
Y82F |
probably damaging |
Het |
| Gm20939 |
C |
A |
17: 95,183,234 (GRCm39) |
P157T |
probably damaging |
Het |
| H2bc1 |
T |
C |
13: 24,117,935 (GRCm39) |
T69A |
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,321,041 (GRCm39) |
H468Q |
probably benign |
Het |
| Il20ra |
T |
C |
10: 19,631,576 (GRCm39) |
V259A |
probably damaging |
Het |
| Isg15 |
A |
T |
4: 156,284,414 (GRCm39) |
V38E |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,871,912 (GRCm39) |
S586P |
probably benign |
Het |
| Kl |
A |
T |
5: 150,876,798 (GRCm39) |
Y206F |
probably benign |
Het |
| Klk1b24 |
C |
A |
7: 43,840,939 (GRCm39) |
D122E |
probably damaging |
Het |
| Kmt2d |
A |
C |
15: 98,760,831 (GRCm39) |
S840A |
unknown |
Het |
| Krt34 |
A |
G |
11: 99,930,953 (GRCm39) |
S150P |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,830,769 (GRCm39) |
K1502R |
probably benign |
Het |
| Letm1 |
G |
T |
5: 33,918,228 (GRCm39) |
R306S |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,768,398 (GRCm39) |
G397S |
probably null |
Het |
| Mpeg1 |
A |
T |
19: 12,440,198 (GRCm39) |
D552V |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,054,232 (GRCm39) |
|
probably null |
Het |
| Ndufa9 |
T |
C |
6: 126,799,154 (GRCm39) |
|
probably null |
Het |
| Or4e5 |
A |
C |
14: 52,727,871 (GRCm39) |
|
probably null |
Het |
| Or4f4b |
A |
T |
2: 111,314,008 (GRCm39) |
I78F |
probably damaging |
Het |
| Or8s8 |
G |
A |
15: 98,354,614 (GRCm39) |
C141Y |
probably damaging |
Het |
| Polr3d |
A |
C |
14: 70,678,755 (GRCm39) |
M117R |
possibly damaging |
Het |
| Ppp5c |
T |
C |
7: 16,742,628 (GRCm39) |
I237V |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,504,945 (GRCm39) |
T2632M |
probably damaging |
Het |
| Ptprg |
C |
A |
14: 12,213,697 (GRCm38) |
Q1022K |
probably damaging |
Het |
| Pus10 |
T |
A |
11: 23,675,542 (GRCm39) |
H471Q |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,689,174 (GRCm39) |
V1928A |
probably damaging |
Het |
| Rbpms2 |
CACT |
CACTACT |
9: 65,558,947 (GRCm39) |
|
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
T |
G |
7: 5,113,357 (GRCm39) |
T269P |
probably benign |
Het |
| Rgs10 |
A |
G |
7: 128,004,946 (GRCm39) |
V72A |
probably damaging |
Het |
| Rsph1 |
T |
C |
17: 31,474,190 (GRCm39) |
N289S |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,966,121 (GRCm39) |
D21G |
probably benign |
Het |
| Shbg |
A |
T |
11: 69,507,983 (GRCm39) |
D127E |
possibly damaging |
Het |
| Spag16 |
A |
G |
1: 69,882,164 (GRCm39) |
E52G |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,344,850 (GRCm39) |
G945D |
possibly damaging |
Het |
| Sstr3 |
A |
T |
15: 78,424,473 (GRCm39) |
D91E |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,101,713 (GRCm39) |
A669E |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,208,907 (GRCm39) |
I109V |
probably benign |
Het |
| Ube2j1 |
A |
G |
4: 33,049,886 (GRCm39) |
T295A |
probably damaging |
Het |
| Usp46 |
A |
G |
5: 74,163,828 (GRCm39) |
V276A |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,640 (GRCm39) |
S139P |
possibly damaging |
Het |
| Ydjc |
G |
A |
16: 16,965,663 (GRCm39) |
V143M |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,652,330 (GRCm39) |
E29G |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,808,935 (GRCm39) |
S1370P |
probably damaging |
Het |
| Zfp763 |
C |
T |
17: 33,238,591 (GRCm39) |
D185N |
probably damaging |
Het |
| Zfp827 |
A |
T |
8: 79,787,202 (GRCm39) |
N123Y |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,442 (GRCm39) |
I89N |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,080,583 (GRCm39) |
L419P |
probably damaging |
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 |
|
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 |
|
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'- AGCAACTTCTGGTTCAAATTCCCCG -3'
(R):5'- GAATGTCATCGATTCCCGTCTCCTG -3'
Sequencing Primer
(F):5'- TGAGGTCCCAGTCTCTCAAG -3'
(R):5'- CTGCCGGACATACTCGAAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation