Incidental Mutation 'R0815:Lrrc8c'
ID |
78564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc8c
|
Ensembl Gene |
ENSMUSG00000054720 |
Gene Name |
leucine rich repeat containing 8 family, member C |
Synonyms |
E430036I04Rik |
MMRRC Submission |
038995-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0815 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105667254-105760884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105756400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 725
(L725P)
|
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: L725P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066015 Gene: ENSMUSG00000054720 AA Change: L725P
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 |
0.9350 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.3%
|
Validation Efficiency |
97% (58/60) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,865,184 (GRCm39) |
|
probably benign |
Het |
Abcf2 |
A |
T |
5: 24,772,268 (GRCm39) |
Y487N |
probably damaging |
Het |
Adcy4 |
T |
C |
14: 56,021,056 (GRCm39) |
Y27C |
probably damaging |
Het |
Atp2a2 |
T |
C |
5: 122,609,299 (GRCm39) |
I188V |
probably benign |
Het |
Cacna1s |
A |
T |
1: 136,040,695 (GRCm39) |
I1231F |
possibly damaging |
Het |
Capn7 |
T |
A |
14: 31,091,714 (GRCm39) |
C704S |
possibly damaging |
Het |
Celsr2 |
G |
T |
3: 108,308,617 (GRCm39) |
T1770K |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,848,748 (GRCm39) |
|
probably null |
Het |
Dpp10 |
A |
G |
1: 123,360,658 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
A |
G |
9: 45,656,372 (GRCm39) |
I1571V |
probably benign |
Het |
Eif3j2 |
T |
A |
18: 43,610,036 (GRCm39) |
Y259F |
probably benign |
Het |
Erc2 |
A |
C |
14: 27,747,105 (GRCm39) |
N345T |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,573 (GRCm39) |
|
probably benign |
Het |
Frmd8 |
A |
T |
19: 5,915,084 (GRCm39) |
|
probably benign |
Het |
Gfm1 |
T |
C |
3: 67,381,928 (GRCm39) |
S705P |
probably damaging |
Het |
Gucy1b2 |
T |
C |
14: 62,656,511 (GRCm39) |
D282G |
probably benign |
Het |
H2-Ab1 |
T |
C |
17: 34,486,328 (GRCm39) |
I129T |
probably damaging |
Het |
H2-M10.3 |
T |
A |
17: 36,677,582 (GRCm39) |
Y232F |
probably damaging |
Het |
Lipm |
A |
T |
19: 34,096,161 (GRCm39) |
T326S |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,762,375 (GRCm39) |
|
probably benign |
Het |
Med31 |
T |
A |
11: 72,104,657 (GRCm39) |
N50I |
probably damaging |
Het |
Myo15b |
T |
G |
11: 115,757,162 (GRCm39) |
|
probably benign |
Het |
Nemp1 |
T |
C |
10: 127,528,893 (GRCm39) |
L199S |
probably damaging |
Het |
Nod2 |
G |
A |
8: 89,399,290 (GRCm39) |
|
probably benign |
Het |
Oga |
C |
T |
19: 45,771,425 (GRCm39) |
A49T |
probably benign |
Het |
Or2ak6 |
A |
G |
11: 58,593,435 (GRCm39) |
R303G |
possibly damaging |
Het |
Or5b21 |
A |
G |
19: 12,840,008 (GRCm39) |
I290V |
probably benign |
Het |
Parva |
G |
A |
7: 112,167,071 (GRCm39) |
V215M |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,156,114 (GRCm39) |
|
probably benign |
Het |
Plscr1l1 |
A |
T |
9: 92,233,140 (GRCm39) |
I88L |
possibly damaging |
Het |
Ppp1r12c |
G |
T |
7: 4,489,365 (GRCm39) |
Q240K |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,809,466 (GRCm39) |
Y436* |
probably null |
Het |
Ralgapa1 |
C |
A |
12: 55,829,562 (GRCm39) |
|
probably benign |
Het |
Rbm11 |
C |
T |
16: 75,393,525 (GRCm39) |
R74C |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,333,479 (GRCm39) |
V744A |
probably damaging |
Het |
Rsbn1 |
T |
G |
3: 103,861,469 (GRCm39) |
S522A |
probably damaging |
Het |
Scel |
T |
A |
14: 103,823,916 (GRCm39) |
S381R |
possibly damaging |
Het |
Sec31b |
G |
A |
19: 44,506,612 (GRCm39) |
Q909* |
probably null |
Het |
Slc38a11 |
T |
A |
2: 65,184,124 (GRCm39) |
I176L |
possibly damaging |
Het |
Slc39a4 |
C |
T |
15: 76,496,839 (GRCm39) |
D574N |
probably damaging |
Het |
Slc44a1 |
T |
G |
4: 53,536,421 (GRCm39) |
V199G |
possibly damaging |
Het |
Sltm |
A |
G |
9: 70,469,190 (GRCm39) |
T150A |
probably benign |
Het |
Son |
C |
A |
16: 91,452,372 (GRCm39) |
A373D |
probably damaging |
Het |
Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
Speg |
A |
G |
1: 75,392,036 (GRCm39) |
Y1606C |
probably damaging |
Het |
Srgap1 |
A |
T |
10: 121,621,379 (GRCm39) |
V1061D |
probably damaging |
Het |
Stat5a |
A |
G |
11: 100,765,908 (GRCm39) |
|
probably null |
Het |
Supt4a |
T |
A |
11: 87,628,409 (GRCm39) |
|
probably benign |
Het |
Teddm1b |
A |
G |
1: 153,750,638 (GRCm39) |
K149R |
possibly damaging |
Het |
Thnsl2 |
A |
T |
6: 71,111,208 (GRCm39) |
L220* |
probably null |
Het |
Tinf2 |
G |
A |
14: 55,917,566 (GRCm39) |
P308S |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,847,879 (GRCm39) |
S329P |
probably benign |
Het |
Tnf |
T |
C |
17: 35,420,120 (GRCm39) |
|
probably benign |
Het |
Upp2 |
A |
G |
2: 58,661,568 (GRCm39) |
T144A |
probably benign |
Het |
Vmn2r94 |
T |
G |
17: 18,477,973 (GRCm39) |
Q146P |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,310,375 (GRCm39) |
S919R |
possibly 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 |
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'- AGCATCGCTTACATTCCAGAGCAC -3'
(R):5'- GGGCAGAGTCTCAAACAGAGCATC -3'
Sequencing Primer
(F):5'- GAGAGACTGTTTTTCAGCCAC -3'
(R):5'- GTCTCAAACAGAGCATCTTCCAC -3'
|
Posted On |
2013-10-16 |