Incidental Mutation 'R4968:Lrrc8c'
| ID |
384177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8c
|
| Ensembl Gene |
ENSMUSG00000054720 |
| Gene Name |
leucine rich repeat containing 8 family, member C |
| Synonyms |
E430036I04Rik |
| MMRRC Submission |
042564-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4968 (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 105754993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 256
(D256G)
|
| 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: D256G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: D256G
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
A |
T |
11: 58,769,616 (GRCm39) |
K53* |
probably null |
Het |
| 4921513D11Rik |
T |
C |
17: 79,935,651 (GRCm39) |
S255P |
probably benign |
Het |
| Ace |
A |
G |
11: 105,872,679 (GRCm39) |
N367S |
possibly damaging |
Het |
| Agl |
A |
T |
3: 116,582,175 (GRCm39) |
N282K |
probably benign |
Het |
| Ahnak |
C |
A |
19: 8,992,464 (GRCm39) |
P4583T |
probably damaging |
Het |
| Alpi |
T |
C |
1: 87,029,247 (GRCm39) |
D4G |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Aplnr |
T |
C |
2: 84,967,289 (GRCm39) |
Y105H |
probably damaging |
Het |
| Arhgap9 |
G |
A |
10: 127,162,875 (GRCm39) |
R395K |
possibly damaging |
Het |
| Asah1 |
A |
G |
8: 41,807,067 (GRCm39) |
M119T |
|
Het |
| Atp5f1b |
T |
C |
10: 127,919,856 (GRCm39) |
F75L |
probably damaging |
Het |
| B4galt6 |
G |
T |
18: 20,861,026 (GRCm39) |
N75K |
possibly damaging |
Het |
| Bco1 |
A |
T |
8: 117,857,833 (GRCm39) |
H486L |
probably benign |
Het |
| Btaf1 |
T |
A |
19: 36,947,351 (GRCm39) |
L480Q |
probably null |
Het |
| Ccdc34 |
G |
T |
2: 109,871,078 (GRCm39) |
|
probably null |
Het |
| Cdh19 |
T |
C |
1: 110,852,958 (GRCm39) |
S326G |
probably benign |
Het |
| Cep89 |
A |
G |
7: 35,109,055 (GRCm39) |
D178G |
possibly damaging |
Het |
| Cyp11b2 |
A |
T |
15: 74,725,854 (GRCm39) |
|
probably null |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,383 (GRCm39) |
I157T |
possibly damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,245,074 (GRCm39) |
D116G |
probably damaging |
Het |
| Ddx5 |
T |
C |
11: 106,674,953 (GRCm39) |
Q377R |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,503,724 (GRCm39) |
D279G |
probably damaging |
Het |
| F11 |
G |
A |
8: 45,698,770 (GRCm39) |
A458V |
probably benign |
Het |
| Fhad1 |
C |
A |
4: 141,645,618 (GRCm39) |
G326W |
probably damaging |
Het |
| Fhit |
C |
T |
14: 10,421,522 (GRCm38) |
V26M |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,015 (GRCm39) |
V43E |
probably damaging |
Het |
| Grtp1 |
A |
T |
8: 13,242,184 (GRCm39) |
I75N |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,533,221 (GRCm39) |
I3022T |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,881,962 (GRCm39) |
T166A |
probably benign |
Het |
| Ift70b |
T |
C |
2: 75,768,391 (GRCm39) |
I121V |
probably benign |
Het |
| Iho1 |
C |
T |
9: 108,289,713 (GRCm39) |
V170M |
probably benign |
Het |
| Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
| Kcnk10 |
T |
C |
12: 98,401,161 (GRCm39) |
I491V |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,497,628 (GRCm39) |
C519* |
probably null |
Het |
| Lcmt2 |
T |
C |
2: 120,970,217 (GRCm39) |
T69A |
probably benign |
Het |
| Lmf1 |
A |
G |
17: 25,804,592 (GRCm39) |
Y90C |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,798,064 (GRCm39) |
D612G |
probably damaging |
Het |
| Lrfn5 |
C |
A |
12: 61,886,461 (GRCm39) |
S83Y |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,719 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
C |
T |
2: 41,679,074 (GRCm39) |
C6Y |
probably damaging |
Het |
| Mphosph10 |
A |
G |
7: 64,032,656 (GRCm39) |
Y478H |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,124 (GRCm39) |
H167R |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,767 (GRCm39) |
S598P |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,684,049 (GRCm39) |
E1154G |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,808,270 (GRCm39) |
V1218A |
probably damaging |
Het |
| Myo19 |
A |
G |
11: 84,792,328 (GRCm39) |
K599R |
probably damaging |
Het |
| Neurl4 |
T |
C |
11: 69,798,134 (GRCm39) |
M771T |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,753,936 (GRCm39) |
V149A |
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,641,935 (GRCm39) |
S843T |
probably benign |
Het |
| Or2y1c |
T |
C |
11: 49,361,358 (GRCm39) |
C127R |
probably damaging |
Het |
| Or51k1 |
T |
C |
7: 103,661,777 (GRCm39) |
N44S |
probably damaging |
Het |
| P3h2 |
A |
G |
16: 25,811,412 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,278,042 (GRCm39) |
Y287* |
probably null |
Het |
| Prob1 |
T |
C |
18: 35,785,605 (GRCm39) |
Y883C |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,050,011 (GRCm39) |
H506Q |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,827,037 (GRCm39) |
D658G |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,301,434 (GRCm39) |
I333L |
probably benign |
Het |
| Selenok |
T |
A |
14: 29,692,064 (GRCm39) |
V34E |
probably benign |
Het |
| Selplg |
T |
C |
5: 113,957,787 (GRCm39) |
E173G |
possibly damaging |
Het |
| Septin10 |
A |
G |
10: 59,016,943 (GRCm39) |
F194L |
probably damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,779,230 (GRCm39) |
|
probably null |
Het |
| St6galnac6 |
C |
T |
2: 32,498,098 (GRCm39) |
P6S |
probably benign |
Het |
| Syngr2 |
T |
C |
11: 117,704,296 (GRCm39) |
Y194H |
probably damaging |
Het |
| Thbs4 |
A |
G |
13: 92,894,576 (GRCm39) |
I649T |
possibly damaging |
Het |
| Triobp |
T |
A |
15: 78,850,816 (GRCm39) |
N323K |
probably benign |
Het |
| Tuba8 |
T |
A |
6: 121,197,548 (GRCm39) |
L70Q |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,478 (GRCm39) |
T633A |
probably benign |
Het |
| Zfp280b |
G |
T |
10: 75,875,188 (GRCm39) |
V356L |
probably damaging |
Het |
| Zswim4 |
A |
T |
8: 84,944,001 (GRCm39) |
V746D |
probably benign |
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 |
|
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 |
|
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'- ACAACATGAACAGGTCCGGC -3'
(R):5'- TCAGGCCATAGATGCTTACAAAG -3'
Sequencing Primer
(F):5'- GCACCATCCAGTCTGGTC -3'
(R):5'- CTTAGAGAACAAATGAGCCATGGTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation