Incidental Mutation 'R1770:Lrrc8c'
ID |
196480 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc8c
|
Ensembl Gene |
ENSMUSG00000054720 |
Gene Name |
leucine rich repeat containing 8 family, member C |
Synonyms |
E430036I04Rik |
MMRRC Submission |
039801-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1770 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105667254-105760884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105754603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 126
(Y126C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067924]
[ENSMUST00000153754]
|
AlphaFold |
Q8R502 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067924
AA Change: Y126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066015 Gene: ENSMUSG00000054720 AA Change: Y126C
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 damaging
Transcript: ENSMUST00000153754
AA Change: Y126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114899 Gene: ENSMUSG00000054720 AA Change: Y126C
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 |
0.3823 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
Validation Efficiency |
92% (69/75) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
T |
C |
12: 84,661,874 (GRCm39) |
T84A |
probably benign |
Het |
Adgra1 |
T |
A |
7: 139,453,947 (GRCm39) |
Y161* |
probably null |
Het |
Aldoart1 |
G |
T |
4: 72,770,173 (GRCm39) |
H212N |
probably benign |
Het |
Aldob |
A |
G |
4: 49,536,861 (GRCm39) |
Y343H |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,391,235 (GRCm39) |
V2036E |
possibly damaging |
Het |
Ass1 |
A |
G |
2: 31,376,528 (GRCm39) |
T131A |
probably benign |
Het |
Baz1a |
C |
T |
12: 54,945,293 (GRCm39) |
R1354H |
probably damaging |
Het |
C2cd2l |
A |
G |
9: 44,228,108 (GRCm39) |
V71A |
probably benign |
Het |
C4b |
T |
A |
17: 34,955,901 (GRCm39) |
N678I |
possibly damaging |
Het |
Carmil1 |
A |
G |
13: 24,357,657 (GRCm39) |
L64P |
probably damaging |
Het |
Cdh18 |
T |
C |
15: 23,474,487 (GRCm39) |
S786P |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,751,042 (GRCm39) |
E296G |
possibly damaging |
Het |
Chml |
G |
A |
1: 175,515,444 (GRCm39) |
T159I |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,246,166 (GRCm39) |
E328K |
possibly damaging |
Het |
Cstf1 |
A |
G |
2: 172,214,983 (GRCm39) |
I35V |
possibly damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,070,642 (GRCm39) |
K275R |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dbx2 |
T |
C |
15: 95,522,615 (GRCm39) |
E364G |
probably benign |
Het |
Dcaf13 |
A |
T |
15: 38,993,633 (GRCm39) |
N242I |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,579,470 (GRCm39) |
V701A |
probably benign |
Het |
Elapor2 |
A |
T |
5: 9,468,021 (GRCm39) |
T230S |
probably benign |
Het |
Fastkd5 |
A |
T |
2: 130,456,200 (GRCm39) |
Y797N |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,064,417 (GRCm39) |
I4791K |
probably damaging |
Het |
Gm3852 |
T |
C |
1: 46,051,048 (GRCm39) |
I45V |
possibly damaging |
Het |
Gng4 |
A |
G |
13: 13,999,851 (GRCm39) |
D40G |
probably damaging |
Het |
Gns |
A |
G |
10: 121,213,952 (GRCm39) |
D209G |
probably benign |
Het |
Kif6 |
C |
A |
17: 50,210,677 (GRCm39) |
Q791K |
possibly damaging |
Het |
Klhl35 |
G |
A |
7: 99,123,082 (GRCm39) |
V569M |
possibly damaging |
Het |
Krt1c |
A |
G |
15: 101,719,589 (GRCm39) |
S694P |
unknown |
Het |
Mad2l1bp |
A |
G |
17: 46,463,838 (GRCm39) |
V62A |
probably benign |
Het |
Map1b |
T |
C |
13: 99,567,001 (GRCm39) |
R1907G |
unknown |
Het |
Mertk |
A |
G |
2: 128,592,094 (GRCm39) |
I273V |
probably benign |
Het |
Mfsd4b1 |
A |
G |
10: 39,879,223 (GRCm39) |
Y225H |
probably damaging |
Het |
Mrc2 |
T |
C |
11: 105,229,619 (GRCm39) |
V684A |
probably damaging |
Het |
Msh6 |
G |
A |
17: 88,287,651 (GRCm39) |
W97* |
probably null |
Het |
Mtmr10 |
A |
G |
7: 63,986,469 (GRCm39) |
I516V |
possibly damaging |
Het |
Myo7a |
A |
T |
7: 97,761,813 (GRCm39) |
|
probably benign |
Het |
Ndufs5 |
T |
C |
4: 123,606,661 (GRCm39) |
Y92C |
probably benign |
Het |
Nlrp1b |
C |
T |
11: 71,050,979 (GRCm39) |
V1035I |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 59,009,132 (GRCm39) |
R308G |
possibly damaging |
Het |
Or12e13 |
A |
G |
2: 87,663,643 (GRCm39) |
I87V |
probably benign |
Het |
Pcdhb16 |
G |
T |
18: 37,612,233 (GRCm39) |
G398W |
probably damaging |
Het |
Plpbp |
T |
A |
8: 27,543,326 (GRCm39) |
S237T |
probably damaging |
Het |
Pnpla6 |
T |
A |
8: 3,584,634 (GRCm39) |
F769I |
possibly damaging |
Het |
Polk |
A |
G |
13: 96,631,950 (GRCm39) |
V261A |
probably damaging |
Het |
Prss52 |
C |
T |
14: 64,351,082 (GRCm39) |
A289V |
probably damaging |
Het |
Puf60 |
T |
C |
15: 75,942,723 (GRCm39) |
K407E |
probably benign |
Het |
Pzp |
T |
C |
6: 128,462,580 (GRCm39) |
D1455G |
probably damaging |
Het |
Ranbp17 |
T |
C |
11: 33,167,301 (GRCm39) |
N1054S |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,684,567 (GRCm39) |
S1965P |
probably benign |
Het |
Spryd7 |
T |
C |
14: 61,777,654 (GRCm39) |
Y142C |
probably damaging |
Het |
Srrt |
A |
T |
5: 137,298,122 (GRCm39) |
|
probably benign |
Het |
Stk10 |
A |
G |
11: 32,572,464 (GRCm39) |
E935G |
possibly damaging |
Het |
Tas2r115 |
G |
A |
6: 132,714,934 (GRCm39) |
R6C |
probably damaging |
Het |
Tdrd7 |
T |
A |
4: 45,987,681 (GRCm39) |
|
probably benign |
Het |
Trim29 |
A |
T |
9: 43,243,673 (GRCm39) |
Q564L |
probably damaging |
Het |
Trim5 |
T |
C |
7: 103,925,868 (GRCm39) |
D231G |
probably damaging |
Het |
Trpv2 |
A |
G |
11: 62,487,787 (GRCm39) |
K676E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,583,859 (GRCm39) |
R22383G |
probably damaging |
Het |
Ugt1a2 |
A |
G |
1: 88,129,160 (GRCm39) |
I268V |
probably benign |
Het |
Ugt8a |
T |
C |
3: 125,667,852 (GRCm39) |
N330D |
probably benign |
Het |
Utrn |
G |
A |
10: 12,351,040 (GRCm39) |
H2822Y |
probably damaging |
Het |
Vmn1r176 |
G |
A |
7: 23,534,946 (GRCm39) |
A69V |
probably benign |
Het |
Vmn2r106 |
T |
C |
17: 20,488,560 (GRCm39) |
Y613C |
probably damaging |
Het |
Wdfy1 |
A |
T |
1: 79,686,857 (GRCm39) |
W296R |
probably damaging |
Het |
Zfp11 |
G |
A |
5: 129,734,822 (GRCm39) |
T213I |
possibly damaging |
Het |
Zfp142 |
A |
T |
1: 74,618,790 (GRCm39) |
F193I |
probably damaging |
Het |
Zfp764 |
G |
A |
7: 127,004,739 (GRCm39) |
Q131* |
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 |
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 |
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'- AGTTATCAGTACCACTCCGCTGCC -3'
(R):5'- TGACTTGAGAGACTGGGACCTCAC -3'
Sequencing Primer
(F):5'- GCTGCCCCCACCTAAAC -3'
(R):5'- TCGGGACCAGACTGGATG -3'
|
Posted On |
2014-05-23 |