Incidental Mutation 'R5147:Lrit3'
| ID |
395142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrit3
|
| Ensembl Gene |
ENSMUSG00000093865 |
| Gene Name |
leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 |
| Synonyms |
LOC242235 |
| MMRRC Submission |
042731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5147 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
129581530-129597679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129597574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 36
(S36P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029648]
[ENSMUST00000171313]
[ENSMUST00000179187]
[ENSMUST00000185462]
[ENSMUST00000196902]
[ENSMUST00000200079]
|
| AlphaFold |
W8DXL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029648
|
| SMART Domains |
Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
36 |
309 |
3.5e-11 |
PFAM |
|
Pfam:7tm_1
|
42 |
294 |
1.5e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171313
|
| SMART Domains |
Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
36 |
309 |
3.5e-11 |
PFAM |
|
Pfam:7tm_1
|
42 |
294 |
4.6e-45 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179187
AA Change: S36P
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136912
Gene: ENSMUSG00000093865
AA Change: S36P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
61 |
2.7e-1 |
SMART |
|
LRR
|
80 |
103 |
6.96e0 |
SMART |
|
LRR
|
104 |
127 |
3.27e1 |
SMART |
|
LRR_TYP
|
128 |
151 |
4.47e-3 |
SMART |
|
LRR_TYP
|
152 |
175 |
7.37e-4 |
SMART |
|
LRRCT
|
201 |
252 |
4.65e-2 |
SMART |
|
Blast:IG
|
260 |
297 |
9e-13 |
BLAST |
|
low complexity region
|
298 |
311 |
N/A |
INTRINSIC |
|
FN3
|
364 |
443 |
1.85e0 |
SMART |
|
transmembrane domain
|
462 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185462
AA Change: S36P
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140184
Gene: ENSMUSG00000093865
AA Change: S36P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
61 |
1.3e-3 |
SMART |
|
LRR
|
80 |
103 |
2.9e-2 |
SMART |
|
LRR
|
104 |
127 |
1.4e-1 |
SMART |
|
LRR_TYP
|
128 |
151 |
1.9e-5 |
SMART |
|
LRR_TYP
|
152 |
175 |
3.2e-6 |
SMART |
|
LRRCT
|
201 |
252 |
2.3e-4 |
SMART |
|
IGc2
|
266 |
335 |
4.7e-11 |
SMART |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
432 |
N/A |
INTRINSIC |
|
FN3
|
485 |
564 |
9e-3 |
SMART |
|
transmembrane domain
|
583 |
605 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196317
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196902
|
| SMART Domains |
Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
36 |
309 |
3.5e-11 |
PFAM |
|
Pfam:7tm_1
|
42 |
294 |
1.5e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200079
|
| SMART Domains |
Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
30 |
197 |
3.1e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197535
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a targeted allele show a selective absence of the ERG b-wave with a normal a-wave component under scotopic conditions, as well as variable ERG responses with larger a-wave amplitudes, shorter b-wave amplitudes, and longer implicit times of both waves under photopic conditions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,851,149 (GRCm39) |
Y2121H |
probably benign |
Het |
| Adgrf2 |
A |
G |
17: 43,021,574 (GRCm39) |
Y417H |
probably damaging |
Het |
| Ap5z1 |
A |
C |
5: 142,452,265 (GRCm39) |
D66A |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,821,688 (GRCm39) |
Y422N |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,773,700 (GRCm39) |
G114D |
probably benign |
Het |
| Cgref1 |
C |
T |
5: 31,091,049 (GRCm39) |
G255E |
probably benign |
Het |
| Cyp2a22 |
A |
C |
7: 26,635,750 (GRCm39) |
L271R |
probably damaging |
Het |
| Dcp2 |
G |
T |
18: 44,550,662 (GRCm39) |
E379* |
probably null |
Het |
| Fhl3 |
T |
A |
4: 124,601,724 (GRCm39) |
D277E |
probably benign |
Het |
| Gm19684 |
C |
T |
17: 36,439,411 (GRCm39) |
V190M |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,867,375 (GRCm39) |
D29G |
probably benign |
Het |
| Il31 |
T |
C |
5: 123,620,121 (GRCm39) |
|
probably benign |
Het |
| Ilk |
T |
C |
7: 105,391,774 (GRCm39) |
C422R |
possibly damaging |
Het |
| Itga1 |
T |
G |
13: 115,121,678 (GRCm39) |
D777A |
possibly damaging |
Het |
| Kank3 |
A |
G |
17: 34,041,176 (GRCm39) |
D556G |
probably damaging |
Het |
| Magi1 |
C |
T |
6: 93,724,248 (GRCm39) |
E256K |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Mymk |
C |
T |
2: 26,952,299 (GRCm39) |
M148I |
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,290,003 (GRCm39) |
I170F |
possibly damaging |
Het |
| Odad3 |
T |
C |
9: 21,906,158 (GRCm39) |
E260G |
probably benign |
Het |
| Or5al7 |
A |
T |
2: 85,992,378 (GRCm39) |
I305K |
possibly damaging |
Het |
| Or5an11 |
T |
A |
19: 12,246,268 (GRCm39) |
S225T |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,799,003 (GRCm39) |
T1803I |
possibly damaging |
Het |
| Ppp2r2b |
C |
T |
18: 42,778,942 (GRCm39) |
V398I |
probably benign |
Het |
| Ppp2r5e |
T |
A |
12: 75,516,544 (GRCm39) |
R214S |
probably damaging |
Het |
| Prss16 |
T |
C |
13: 22,190,264 (GRCm39) |
D298G |
possibly damaging |
Het |
| Qprt |
G |
A |
7: 126,707,622 (GRCm39) |
R189W |
probably damaging |
Het |
| Rara |
C |
T |
11: 98,841,550 (GRCm39) |
S36F |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,264 (GRCm39) |
V465A |
probably damaging |
Het |
| Slc22a1 |
C |
T |
17: 12,869,838 (GRCm39) |
G508R |
probably damaging |
Het |
| Slco2a1 |
C |
A |
9: 102,927,468 (GRCm39) |
F120L |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,062,340 (GRCm39) |
L864* |
probably null |
Het |
| Tssk4 |
A |
G |
14: 55,888,430 (GRCm39) |
I100V |
possibly damaging |
Het |
| Vgll4 |
A |
G |
6: 114,867,576 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
G |
7: 6,011,818 (GRCm39) |
I139L |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,456,824 (GRCm39) |
P757S |
probably benign |
Het |
| Ythdc2 |
G |
A |
18: 44,977,359 (GRCm39) |
G385E |
probably damaging |
Het |
|
| Other mutations in Lrit3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4304:Lrit3
|
UTSW |
3 |
129,582,468 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Lrit3
|
UTSW |
3 |
129,582,457 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Lrit3
|
UTSW |
3 |
129,582,465 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Lrit3
|
UTSW |
3 |
129,582,462 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Lrit3
|
UTSW |
3 |
129,597,562 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Lrit3
|
UTSW |
3 |
129,597,562 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Lrit3
|
UTSW |
3 |
129,582,459 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Lrit3
|
UTSW |
3 |
129,582,455 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Lrit3
|
UTSW |
3 |
129,597,559 (GRCm39) |
unclassified |
probably benign |
|
|
R0555:Lrit3
|
UTSW |
3 |
129,584,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Lrit3
|
UTSW |
3 |
129,581,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Lrit3
|
UTSW |
3 |
129,582,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1690:Lrit3
|
UTSW |
3 |
129,594,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1902:Lrit3
|
UTSW |
3 |
129,584,895 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1955:Lrit3
|
UTSW |
3 |
129,594,130 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3155:Lrit3
|
UTSW |
3 |
129,585,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4005:Lrit3
|
UTSW |
3 |
129,585,021 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4445:Lrit3
|
UTSW |
3 |
129,582,180 (GRCm39) |
nonsense |
probably null |
|
|
R4675:Lrit3
|
UTSW |
3 |
129,582,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Lrit3
|
UTSW |
3 |
129,582,040 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5271:Lrit3
|
UTSW |
3 |
129,581,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5505:Lrit3
|
UTSW |
3 |
129,585,087 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5587:Lrit3
|
UTSW |
3 |
129,582,547 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6056:Lrit3
|
UTSW |
3 |
129,583,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Lrit3
|
UTSW |
3 |
129,593,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6280:Lrit3
|
UTSW |
3 |
129,582,412 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6305:Lrit3
|
UTSW |
3 |
129,594,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6441:Lrit3
|
UTSW |
3 |
129,594,009 (GRCm39) |
missense |
probably benign |
|
|
R6947:Lrit3
|
UTSW |
3 |
129,582,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6949:Lrit3
|
UTSW |
3 |
129,582,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Lrit3
|
UTSW |
3 |
129,594,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Lrit3
|
UTSW |
3 |
129,594,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8405:Lrit3
|
UTSW |
3 |
129,582,301 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8896:Lrit3
|
UTSW |
3 |
129,585,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Lrit3
|
UTSW |
3 |
129,594,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Lrit3
|
UTSW |
3 |
129,594,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGAAACCCGTGTGAGG -3'
(R):5'- ATTCGTGGTAGCTTCCCCATG -3'
Sequencing Primer
(F):5'- AAACCCGTGTGAGGCTTCTGAG -3'
(R):5'- GTGGTAGCTTCCCCATGTTCTTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation