Incidental Mutation 'R5931:Lrrtm4'
ID |
461840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrtm4
|
Ensembl Gene |
ENSMUSG00000052581 |
Gene Name |
leucine rich repeat transmembrane neuronal 4 |
Synonyms |
7530419J18Rik |
MMRRC Submission |
044126-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R5931 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
79995860-80787124 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79998722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 44
(I44V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074662]
[ENSMUST00000126005]
[ENSMUST00000126399]
[ENSMUST00000128718]
[ENSMUST00000133918]
[ENSMUST00000136421]
[ENSMUST00000145407]
[ENSMUST00000147663]
|
AlphaFold |
Q80XG9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074662
AA Change: I44V
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000074232 Gene: ENSMUSG00000052581 AA Change: I44V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
LRR
|
108 |
131 |
3.52e-1 |
SMART |
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
LRR
|
156 |
179 |
1.16e-1 |
SMART |
LRR
|
180 |
203 |
4.34e-1 |
SMART |
LRR
|
204 |
224 |
2.4e1 |
SMART |
LRR
|
228 |
251 |
4.97e0 |
SMART |
LRR
|
252 |
275 |
1.07e0 |
SMART |
LRR
|
276 |
299 |
1.64e-1 |
SMART |
Blast:LRRCT
|
311 |
361 |
4e-25 |
BLAST |
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126005
AA Change: I44V
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117445 Gene: ENSMUSG00000052581 AA Change: I44V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
LRR
|
108 |
131 |
3.52e-1 |
SMART |
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
LRR
|
156 |
179 |
1.16e-1 |
SMART |
LRR
|
180 |
203 |
4.34e-1 |
SMART |
LRR
|
204 |
224 |
2.4e1 |
SMART |
LRR
|
228 |
251 |
4.97e0 |
SMART |
LRR
|
252 |
275 |
1.07e0 |
SMART |
LRR
|
276 |
299 |
1.64e-1 |
SMART |
Blast:LRRCT
|
311 |
361 |
4e-25 |
BLAST |
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126399
AA Change: I44V
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000121124 Gene: ENSMUSG00000052581 AA Change: I44V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
LRR
|
108 |
131 |
3.52e-1 |
SMART |
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
LRR
|
156 |
179 |
1.16e-1 |
SMART |
LRR
|
180 |
203 |
4.34e-1 |
SMART |
LRR
|
204 |
224 |
2.4e1 |
SMART |
LRR
|
228 |
251 |
4.97e0 |
SMART |
LRR
|
252 |
275 |
1.07e0 |
SMART |
LRR
|
276 |
299 |
1.64e-1 |
SMART |
Blast:LRRCT
|
311 |
361 |
2e-25 |
BLAST |
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128718
AA Change: I44V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130734
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133918
AA Change: I44V
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115016 Gene: ENSMUSG00000052581 AA Change: I44V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
LRR
|
108 |
131 |
3.52e-1 |
SMART |
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
LRR
|
156 |
179 |
1.16e-1 |
SMART |
LRR
|
180 |
203 |
4.34e-1 |
SMART |
LRR
|
204 |
224 |
2.4e1 |
SMART |
LRR
|
228 |
251 |
4.97e0 |
SMART |
LRR
|
252 |
275 |
1.07e0 |
SMART |
LRR
|
276 |
299 |
1.64e-1 |
SMART |
Blast:LRRCT
|
311 |
361 |
2e-25 |
BLAST |
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136421
AA Change: I45V
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000121621 Gene: ENSMUSG00000052581 AA Change: I45V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
LRRNT
|
34 |
66 |
1.66e0 |
SMART |
LRR_TYP
|
85 |
108 |
6.67e-2 |
SMART |
LRR
|
109 |
132 |
3.52e-1 |
SMART |
LRR_TYP
|
133 |
156 |
2.53e-2 |
SMART |
LRR
|
157 |
180 |
1.16e-1 |
SMART |
LRR
|
181 |
204 |
4.34e-1 |
SMART |
LRR
|
205 |
225 |
2.4e1 |
SMART |
LRR
|
229 |
252 |
4.97e0 |
SMART |
LRR
|
253 |
276 |
1.07e0 |
SMART |
LRR
|
277 |
300 |
1.64e-1 |
SMART |
Blast:LRRCT
|
312 |
362 |
4e-25 |
BLAST |
low complexity region
|
376 |
393 |
N/A |
INTRINSIC |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
low complexity region
|
465 |
470 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145407
AA Change: I44V
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114465 Gene: ENSMUSG00000052581 AA Change: I44V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
Blast:LRR_TYP
|
84 |
104 |
3e-7 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147663
AA Change: I45V
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117263 Gene: ENSMUSG00000052581 AA Change: I45V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
LRRNT
|
34 |
66 |
1.66e0 |
SMART |
LRR_TYP
|
85 |
108 |
6.67e-2 |
SMART |
LRR
|
109 |
132 |
3.52e-1 |
SMART |
LRR_TYP
|
133 |
156 |
2.53e-2 |
SMART |
LRR
|
157 |
180 |
1.16e-1 |
SMART |
LRR
|
181 |
204 |
4.34e-1 |
SMART |
LRR
|
205 |
225 |
2.4e1 |
SMART |
LRR
|
229 |
252 |
4.97e0 |
SMART |
LRR
|
253 |
276 |
1.07e0 |
SMART |
LRR
|
277 |
300 |
1.64e-1 |
SMART |
Blast:LRRCT
|
312 |
362 |
2e-25 |
BLAST |
low complexity region
|
376 |
393 |
N/A |
INTRINSIC |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
low complexity region
|
465 |
470 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired excitatory synapse development and excitatory transmission in dentate gyrus granule cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,896,096 (GRCm39) |
R315W |
probably damaging |
Het |
Atrn |
A |
T |
2: 130,775,356 (GRCm39) |
Y153F |
possibly damaging |
Het |
C4b |
A |
G |
17: 34,948,167 (GRCm39) |
V1644A |
probably damaging |
Het |
Carmil3 |
A |
C |
14: 55,736,397 (GRCm39) |
K654T |
probably damaging |
Het |
Cdh1 |
T |
C |
8: 107,392,964 (GRCm39) |
|
probably null |
Het |
Chrna1 |
C |
T |
2: 73,398,444 (GRCm39) |
V332M |
probably benign |
Het |
Clca3a2 |
A |
C |
3: 144,797,886 (GRCm39) |
V193G |
possibly damaging |
Het |
Cyld |
A |
G |
8: 89,456,470 (GRCm39) |
|
probably null |
Het |
Dbt |
A |
T |
3: 116,317,074 (GRCm39) |
E83D |
possibly damaging |
Het |
Deup1 |
T |
C |
9: 15,472,618 (GRCm39) |
R471G |
possibly damaging |
Het |
Dgcr2 |
T |
A |
16: 17,675,173 (GRCm39) |
I188F |
possibly damaging |
Het |
Dgkg |
G |
A |
16: 22,376,788 (GRCm39) |
R524* |
probably null |
Het |
Dnaaf9 |
G |
A |
2: 130,656,109 (GRCm39) |
T2M |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,453,425 (GRCm39) |
R4399W |
probably damaging |
Het |
Egflam |
G |
A |
15: 7,273,338 (GRCm39) |
T579I |
possibly damaging |
Het |
Eif2b2 |
C |
T |
12: 85,269,561 (GRCm39) |
T211I |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,883,386 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
C |
G |
19: 29,593,129 (GRCm39) |
A788P |
probably benign |
Het |
Ern1 |
A |
G |
11: 106,317,699 (GRCm39) |
S142P |
possibly damaging |
Het |
Fbxo15 |
T |
A |
18: 84,999,250 (GRCm39) |
C351S |
probably damaging |
Het |
Fndc3a |
A |
T |
14: 72,806,307 (GRCm39) |
S444T |
probably benign |
Het |
Gabra6 |
G |
A |
11: 42,198,268 (GRCm39) |
T384M |
probably benign |
Het |
Gpbp1l1 |
T |
C |
4: 116,447,457 (GRCm39) |
V379A |
probably benign |
Het |
Hook2 |
G |
T |
8: 85,722,375 (GRCm39) |
E305* |
probably null |
Het |
Hoxa3 |
G |
A |
6: 52,149,568 (GRCm39) |
A21V |
probably damaging |
Het |
Hs1bp3 |
C |
A |
12: 8,391,915 (GRCm39) |
P339Q |
probably benign |
Het |
Igha |
T |
A |
12: 113,223,710 (GRCm39) |
T49S |
probably benign |
Het |
Klra4 |
C |
T |
6: 130,030,016 (GRCm39) |
V190M |
possibly damaging |
Het |
Lats2 |
A |
G |
14: 57,933,588 (GRCm39) |
L843P |
probably damaging |
Het |
Lcmt1 |
A |
G |
7: 123,020,839 (GRCm39) |
T255A |
probably benign |
Het |
Lpar6 |
A |
G |
14: 73,476,368 (GRCm39) |
I110V |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
Muc20 |
A |
T |
16: 32,614,944 (GRCm39) |
D144E |
possibly damaging |
Het |
Nphp3 |
T |
A |
9: 103,897,945 (GRCm39) |
D417E |
probably damaging |
Het |
Or7g33 |
A |
T |
9: 19,448,629 (GRCm39) |
I199K |
probably benign |
Het |
Or8b40 |
A |
G |
9: 38,027,670 (GRCm39) |
I193V |
probably benign |
Het |
Paqr7 |
A |
C |
4: 134,235,031 (GRCm39) |
Y296S |
probably damaging |
Het |
Pcdha4 |
A |
T |
18: 37,087,808 (GRCm39) |
T664S |
probably damaging |
Het |
Pelo |
T |
A |
13: 115,225,379 (GRCm39) |
Y282F |
probably benign |
Het |
Plxna2 |
A |
T |
1: 194,493,178 (GRCm39) |
I1818F |
probably damaging |
Het |
Pnkd |
A |
G |
1: 74,389,833 (GRCm39) |
D319G |
probably benign |
Het |
Pnma8a |
C |
A |
7: 16,694,809 (GRCm39) |
N221K |
probably benign |
Het |
Ppp1cb |
T |
A |
5: 32,640,810 (GRCm39) |
|
probably null |
Het |
Prkca |
T |
G |
11: 107,905,136 (GRCm39) |
I201L |
probably benign |
Het |
Prp2rt |
A |
G |
13: 97,235,705 (GRCm39) |
L14S |
probably benign |
Het |
Rfx2 |
G |
A |
17: 57,087,778 (GRCm39) |
R538C |
probably damaging |
Het |
Rph3a |
T |
C |
5: 121,101,936 (GRCm39) |
Q100R |
probably damaging |
Het |
Rtel1 |
C |
T |
2: 180,972,608 (GRCm39) |
R29* |
probably null |
Het |
Scel |
T |
A |
14: 103,843,060 (GRCm39) |
Y547* |
probably null |
Het |
Sp100 |
C |
T |
1: 85,606,804 (GRCm39) |
P303L |
probably damaging |
Het |
Stk31 |
A |
G |
6: 49,446,236 (GRCm39) |
S958G |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,055,639 (GRCm39) |
V4168E |
probably benign |
Het |
Tenm3 |
A |
T |
8: 49,099,533 (GRCm39) |
S91T |
probably benign |
Het |
Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
Tmem248 |
T |
A |
5: 130,258,349 (GRCm39) |
I14N |
probably damaging |
Het |
Tor3a |
T |
C |
1: 156,484,057 (GRCm39) |
I298V |
probably benign |
Het |
Trim69 |
A |
T |
2: 122,009,075 (GRCm39) |
K378N |
probably damaging |
Het |
Ttc28 |
C |
T |
5: 111,232,975 (GRCm39) |
P151S |
possibly damaging |
Het |
Uaca |
T |
C |
9: 60,779,294 (GRCm39) |
V1225A |
probably damaging |
Het |
Vps4b |
T |
C |
1: 106,705,065 (GRCm39) |
I343V |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,152,047 (GRCm39) |
T184A |
probably damaging |
Het |
Ythdc2 |
T |
A |
18: 45,006,023 (GRCm39) |
I1172K |
possibly damaging |
Het |
|
Other mutations in Lrrtm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00498:Lrrtm4
|
APN |
6 |
79,999,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02043:Lrrtm4
|
APN |
6 |
79,998,845 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02603:Lrrtm4
|
APN |
6 |
79,999,967 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02614:Lrrtm4
|
APN |
6 |
79,998,827 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02735:Lrrtm4
|
APN |
6 |
80,786,031 (GRCm39) |
missense |
probably benign |
|
IGL02812:Lrrtm4
|
APN |
6 |
79,998,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02885:Lrrtm4
|
APN |
6 |
79,998,786 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02956:Lrrtm4
|
APN |
6 |
79,998,633 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03242:Lrrtm4
|
APN |
6 |
79,999,071 (GRCm39) |
missense |
probably benign |
0.22 |
R0504:Lrrtm4
|
UTSW |
6 |
79,999,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R0537:Lrrtm4
|
UTSW |
6 |
79,999,103 (GRCm39) |
missense |
probably benign |
0.02 |
R0656:Lrrtm4
|
UTSW |
6 |
79,998,953 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0698:Lrrtm4
|
UTSW |
6 |
79,999,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1651:Lrrtm4
|
UTSW |
6 |
79,999,511 (GRCm39) |
missense |
probably benign |
0.06 |
R2126:Lrrtm4
|
UTSW |
6 |
79,998,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R2211:Lrrtm4
|
UTSW |
6 |
79,999,623 (GRCm39) |
missense |
probably benign |
0.00 |
R2363:Lrrtm4
|
UTSW |
6 |
79,998,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Lrrtm4
|
UTSW |
6 |
79,996,638 (GRCm39) |
intron |
probably benign |
|
R3817:Lrrtm4
|
UTSW |
6 |
79,999,044 (GRCm39) |
missense |
probably benign |
0.00 |
R4814:Lrrtm4
|
UTSW |
6 |
80,000,117 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5304:Lrrtm4
|
UTSW |
6 |
79,999,683 (GRCm39) |
missense |
probably benign |
0.01 |
R5318:Lrrtm4
|
UTSW |
6 |
79,999,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Lrrtm4
|
UTSW |
6 |
79,999,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R6195:Lrrtm4
|
UTSW |
6 |
79,998,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7597:Lrrtm4
|
UTSW |
6 |
79,999,428 (GRCm39) |
nonsense |
probably null |
|
R7793:Lrrtm4
|
UTSW |
6 |
79,999,841 (GRCm39) |
missense |
probably damaging |
0.97 |
R7875:Lrrtm4
|
UTSW |
6 |
79,999,343 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8058:Lrrtm4
|
UTSW |
6 |
79,999,528 (GRCm39) |
missense |
probably benign |
|
R8238:Lrrtm4
|
UTSW |
6 |
79,999,668 (GRCm39) |
missense |
probably damaging |
0.97 |
R8324:Lrrtm4
|
UTSW |
6 |
79,998,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R8751:Lrrtm4
|
UTSW |
6 |
79,999,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Lrrtm4
|
UTSW |
6 |
79,998,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R9142:Lrrtm4
|
UTSW |
6 |
79,999,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R9633:Lrrtm4
|
UTSW |
6 |
80,000,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9709:Lrrtm4
|
UTSW |
6 |
80,786,154 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Lrrtm4
|
UTSW |
6 |
79,999,700 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGACACCCCTAATCTGGACG -3'
(R):5'- CCCTTGAAAGGCATCTTCGTC -3'
Sequencing Primer
(F):5'- CTAATCTGGACGAGCCTGTG -3'
(R):5'- TGAAAGGCATCTTCGTCCACTGAG -3'
|
Posted On |
2017-02-28 |