Incidental Mutation 'R9344:Lrrd1'
| ID |
707671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrd1
|
| Ensembl Gene |
ENSMUSG00000040367 |
| Gene Name |
leucine rich repeats and death domain containing 1 |
| Synonyms |
4932412H11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R9344 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3895173-3916596 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3908819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 697
(D697A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044039]
|
| AlphaFold |
Q8C0R9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044039
AA Change: D697A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: D697A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
LRR
|
181 |
203 |
3.18e1 |
SMART |
|
LRR
|
204 |
226 |
7.8e1 |
SMART |
|
LRR
|
227 |
249 |
5.26e0 |
SMART |
|
LRR
|
250 |
272 |
3.98e1 |
SMART |
|
LRR
|
273 |
294 |
2.33e1 |
SMART |
|
LRR
|
296 |
318 |
2.14e1 |
SMART |
|
LRR_TYP
|
319 |
342 |
1.45e-2 |
SMART |
|
LRR
|
365 |
388 |
4.44e0 |
SMART |
|
LRR
|
389 |
410 |
2.76e1 |
SMART |
|
LRR
|
411 |
433 |
8.73e1 |
SMART |
|
LRR
|
434 |
457 |
3.55e1 |
SMART |
|
LRR
|
480 |
503 |
1.45e1 |
SMART |
|
LRR
|
526 |
548 |
1.31e0 |
SMART |
|
LRR
|
549 |
571 |
3.65e1 |
SMART |
|
LRR
|
572 |
594 |
6.22e0 |
SMART |
|
LRR
|
595 |
618 |
2.68e1 |
SMART |
|
LRR
|
644 |
665 |
1.15e1 |
SMART |
|
LRR
|
667 |
689 |
8.01e0 |
SMART |
|
LRR
|
690 |
713 |
1.53e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,591,135 (GRCm39) |
V31A |
possibly damaging |
Het |
| Adss2 |
A |
G |
1: 177,597,527 (GRCm39) |
Y378H |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,608,150 (GRCm39) |
V324D |
probably damaging |
Het |
| Ankrd33b |
A |
G |
15: 31,297,903 (GRCm39) |
S285P |
probably damaging |
Het |
| Arel1 |
C |
T |
12: 84,981,371 (GRCm39) |
G269S |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 65,053,463 (GRCm39) |
M1T |
probably null |
Het |
| Arpin |
C |
T |
7: 79,577,983 (GRCm39) |
V149I |
probably benign |
Het |
| Arpp21 |
A |
G |
9: 112,014,720 (GRCm39) |
L28P |
possibly damaging |
Het |
| Ccr8 |
G |
A |
9: 119,923,133 (GRCm39) |
V83I |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,963,508 (GRCm39) |
E58G |
probably damaging |
Het |
| Dctn2 |
T |
A |
10: 127,114,084 (GRCm39) |
H341Q |
probably damaging |
Het |
| Ddx21 |
C |
A |
10: 62,428,825 (GRCm39) |
A362S |
possibly damaging |
Het |
| Dnajc1 |
C |
T |
2: 18,289,586 (GRCm39) |
V274I |
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,870,763 (GRCm39) |
C550W |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,220,676 (GRCm39) |
L2160S |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,168,163 (GRCm39) |
M1096K |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,148,659 (GRCm39) |
D928E |
probably benign |
Het |
| E030025P04Rik |
C |
T |
11: 109,030,454 (GRCm39) |
|
probably null |
Het |
| Eid2b |
T |
C |
7: 27,977,591 (GRCm39) |
M129T |
possibly damaging |
Het |
| Fnip2 |
G |
A |
3: 79,407,717 (GRCm39) |
S288F |
possibly damaging |
Het |
| Grm4 |
G |
T |
17: 27,653,737 (GRCm39) |
R738S |
probably benign |
Het |
| Gsto2 |
A |
G |
19: 47,864,884 (GRCm39) |
D139G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,772,112 (GRCm39) |
V1097E |
probably benign |
Het |
| Impg1 |
G |
A |
9: 80,312,040 (GRCm39) |
A181V |
probably benign |
Het |
| Irs2 |
G |
T |
8: 11,057,289 (GRCm39) |
S381* |
probably null |
Het |
| Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
| Nat10 |
A |
G |
2: 103,573,460 (GRCm39) |
S346P |
probably damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,388,273 (GRCm39) |
R319H |
probably damaging |
Het |
| Nid1 |
A |
G |
13: 13,652,894 (GRCm39) |
Y568C |
probably damaging |
Het |
| Noc2l |
G |
A |
4: 156,325,130 (GRCm39) |
C325Y |
probably damaging |
Het |
| Or12e9 |
A |
T |
2: 87,202,161 (GRCm39) |
D95V |
possibly damaging |
Het |
| Or1e17 |
C |
A |
11: 73,831,744 (GRCm39) |
S224Y |
possibly damaging |
Het |
| Pde2a |
G |
T |
7: 101,144,891 (GRCm39) |
V169F |
possibly damaging |
Het |
| Pon3 |
T |
C |
6: 5,221,586 (GRCm39) |
K348R |
probably benign |
Het |
| Ppp6c |
A |
G |
2: 39,090,052 (GRCm39) |
|
probably null |
Het |
| Prrc2b |
G |
A |
2: 32,103,600 (GRCm39) |
G1026D |
probably benign |
Het |
| Psg22 |
A |
T |
7: 18,460,816 (GRCm39) |
T482S |
possibly damaging |
Het |
| Rdh19 |
G |
A |
10: 127,692,740 (GRCm39) |
V136M |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 109,940,535 (GRCm39) |
N1275I |
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,592,395 (GRCm39) |
N182D |
probably damaging |
Het |
| Slc7a12 |
T |
A |
3: 14,570,491 (GRCm39) |
H414Q |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,916,702 (GRCm39) |
I109V |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 100,010,793 (GRCm39) |
P2096S |
probably benign |
Het |
| Steap1 |
T |
A |
5: 5,786,459 (GRCm39) |
D326V |
probably damaging |
Het |
| Tacr1 |
C |
T |
6: 82,380,847 (GRCm39) |
T86I |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,545,352 (GRCm39) |
T2493I |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,175,115 (GRCm39) |
S1411P |
possibly damaging |
Het |
| Tom1 |
C |
T |
8: 75,785,076 (GRCm39) |
R303C |
probably damaging |
Het |
| Trav7n-4 |
T |
A |
14: 53,329,200 (GRCm39) |
I70N |
possibly damaging |
Het |
| Utrn |
A |
C |
10: 12,560,275 (GRCm39) |
V1338G |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,271 (GRCm39) |
H261Q |
probably benign |
Het |
| Vmn1r40 |
G |
T |
6: 89,691,235 (GRCm39) |
L17F |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,283 (GRCm39) |
V217A |
probably benign |
Het |
| Vmn2r55 |
C |
A |
7: 12,385,782 (GRCm39) |
G733* |
probably null |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,777 (GRCm39) |
N425I |
probably benign |
Het |
| Vps51 |
C |
T |
19: 6,126,345 (GRCm39) |
V136I |
unknown |
Het |
| Zfp184 |
T |
C |
13: 22,144,411 (GRCm39) |
C706R |
probably damaging |
Het |
|
| Other mutations in Lrrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Lrrd1
|
APN |
5 |
3,900,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00329:Lrrd1
|
APN |
5 |
3,900,081 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00674:Lrrd1
|
APN |
5 |
3,899,773 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00691:Lrrd1
|
APN |
5 |
3,913,929 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00839:Lrrd1
|
APN |
5 |
3,900,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00911:Lrrd1
|
APN |
5 |
3,915,689 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01754:Lrrd1
|
APN |
5 |
3,901,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Lrrd1
|
APN |
5 |
3,901,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02003:Lrrd1
|
APN |
5 |
3,899,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02223:Lrrd1
|
APN |
5 |
3,900,211 (GRCm39) |
missense |
probably benign |
|
|
IGL02477:Lrrd1
|
APN |
5 |
3,915,770 (GRCm39) |
missense |
probably benign |
|
|
IGL02609:Lrrd1
|
APN |
5 |
3,908,803 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02833:Lrrd1
|
APN |
5 |
3,900,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02886:Lrrd1
|
APN |
5 |
3,901,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02896:Lrrd1
|
APN |
5 |
3,901,473 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0045:Lrrd1
|
UTSW |
5 |
3,916,418 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0138:Lrrd1
|
UTSW |
5 |
3,901,345 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0305:Lrrd1
|
UTSW |
5 |
3,915,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Lrrd1
|
UTSW |
5 |
3,900,215 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0455:Lrrd1
|
UTSW |
5 |
3,916,425 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1717:Lrrd1
|
UTSW |
5 |
3,900,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1719:Lrrd1
|
UTSW |
5 |
3,900,483 (GRCm39) |
splice site |
probably null |
|
|
R1836:Lrrd1
|
UTSW |
5 |
3,915,709 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1951:Lrrd1
|
UTSW |
5 |
3,901,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2199:Lrrd1
|
UTSW |
5 |
3,916,478 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3751:Lrrd1
|
UTSW |
5 |
3,900,282 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3752:Lrrd1
|
UTSW |
5 |
3,900,282 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3837:Lrrd1
|
UTSW |
5 |
3,900,204 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3862:Lrrd1
|
UTSW |
5 |
3,901,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3863:Lrrd1
|
UTSW |
5 |
3,901,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3864:Lrrd1
|
UTSW |
5 |
3,901,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4816:Lrrd1
|
UTSW |
5 |
3,901,126 (GRCm39) |
nonsense |
probably null |
|
|
R5225:Lrrd1
|
UTSW |
5 |
3,908,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5721:Lrrd1
|
UTSW |
5 |
3,900,619 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5791:Lrrd1
|
UTSW |
5 |
3,901,254 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6077:Lrrd1
|
UTSW |
5 |
3,900,837 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6229:Lrrd1
|
UTSW |
5 |
3,913,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6330:Lrrd1
|
UTSW |
5 |
3,900,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6588:Lrrd1
|
UTSW |
5 |
3,901,386 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6734:Lrrd1
|
UTSW |
5 |
3,900,226 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6932:Lrrd1
|
UTSW |
5 |
3,901,395 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7180:Lrrd1
|
UTSW |
5 |
3,901,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Lrrd1
|
UTSW |
5 |
3,916,476 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8356:Lrrd1
|
UTSW |
5 |
3,916,509 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9031:Lrrd1
|
UTSW |
5 |
3,900,963 (GRCm39) |
nonsense |
probably null |
|
|
R9208:Lrrd1
|
UTSW |
5 |
3,900,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9381:Lrrd1
|
UTSW |
5 |
3,901,074 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9400:Lrrd1
|
UTSW |
5 |
3,899,677 (GRCm39) |
unclassified |
probably benign |
|
|
R9471:Lrrd1
|
UTSW |
5 |
3,913,980 (GRCm39) |
missense |
|
|
|
R9549:Lrrd1
|
UTSW |
5 |
3,901,473 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9557:Lrrd1
|
UTSW |
5 |
3,901,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Lrrd1
|
UTSW |
5 |
3,901,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9725:Lrrd1
|
UTSW |
5 |
3,901,147 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9775:Lrrd1
|
UTSW |
5 |
3,899,897 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9778:Lrrd1
|
UTSW |
5 |
3,899,982 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9785:Lrrd1
|
UTSW |
5 |
3,908,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrrd1
|
UTSW |
5 |
3,900,025 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACAAGACTTCCAGAAGAGGTGT -3'
(R):5'- ACCATAACACCTGTTTCCTGCA -3'
Sequencing Primer
(F):5'- CCAGAAGAGGTGTCTCATATGACTC -3'
(R):5'- TGCATCTCTAGATTCACAGCAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation