Incidental Mutation 'R5225:Lrrd1'
| ID |
402545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrd1
|
| Ensembl Gene |
ENSMUSG00000040367 |
| Gene Name |
leucine rich repeats and death domain containing 1 |
| Synonyms |
4932412H11Rik |
| MMRRC Submission |
042798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3895173-3916596 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3908735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 669
(S669N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044039]
|
| AlphaFold |
Q8C0R9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044039
AA Change: S669N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: S669N
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
C |
T |
17: 9,226,839 (GRCm39) |
R465* |
probably null |
Het |
| Abcg3 |
A |
T |
5: 105,114,649 (GRCm39) |
D289E |
probably damaging |
Het |
| Ablim2 |
G |
T |
5: 36,024,115 (GRCm39) |
|
probably null |
Het |
| Acp1 |
A |
T |
12: 30,955,078 (GRCm39) |
V36D |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,449,348 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
G |
A |
12: 52,933,329 (GRCm39) |
V274I |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,609,715 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
G |
A |
14: 70,717,605 (GRCm39) |
R789W |
probably damaging |
Het |
| Catspere2 |
A |
T |
1: 177,976,474 (GRCm39) |
|
probably benign |
Het |
| Cfhr2 |
T |
A |
1: 139,749,520 (GRCm39) |
Y154F |
possibly damaging |
Het |
| Cilp2 |
T |
C |
8: 70,336,015 (GRCm39) |
Y358C |
probably damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,584,516 (GRCm39) |
K513* |
probably null |
Het |
| Dennd4a |
G |
T |
9: 64,796,210 (GRCm39) |
K745N |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,655,085 (GRCm39) |
S542T |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,696,465 (GRCm39) |
I893F |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,353,130 (GRCm39) |
E2761V |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,708,341 (GRCm39) |
T40A |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,520,936 (GRCm39) |
D296G |
possibly damaging |
Het |
| Fance |
C |
T |
17: 28,534,589 (GRCm39) |
|
probably benign |
Het |
| Gaa |
A |
G |
11: 119,167,669 (GRCm39) |
D149G |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,522 (GRCm39) |
M47T |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,813,774 (GRCm39) |
N202D |
probably damaging |
Het |
| Gm7535 |
T |
C |
17: 18,131,809 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
T |
A |
1: 59,601,859 (GRCm39) |
M491K |
probably benign |
Het |
| Gmnc |
A |
G |
16: 26,782,695 (GRCm39) |
V27A |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,440,915 (GRCm39) |
T1167A |
possibly damaging |
Het |
| Klrg1 |
T |
A |
6: 122,248,331 (GRCm39) |
*189C |
probably null |
Het |
| Lime1 |
T |
A |
2: 181,024,640 (GRCm39) |
M98K |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,391,965 (GRCm39) |
A2867S |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,976,456 (GRCm39) |
N520S |
probably damaging |
Het |
| Mrpl48 |
A |
C |
7: 100,198,535 (GRCm39) |
L206V |
probably damaging |
Het |
| Nagpa |
C |
T |
16: 5,021,596 (GRCm39) |
A52T |
probably benign |
Het |
| Or1o3 |
A |
G |
17: 37,573,919 (GRCm39) |
V212A |
probably benign |
Het |
| Or4c3 |
T |
G |
2: 89,851,528 (GRCm39) |
D294A |
probably benign |
Het |
| Orai2 |
A |
G |
5: 136,190,355 (GRCm39) |
S71P |
probably damaging |
Het |
| Pcbp1 |
A |
T |
6: 86,502,209 (GRCm39) |
I230N |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,138,986 (GRCm39) |
L349P |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,613,011 (GRCm39) |
V657A |
probably benign |
Het |
| Prdm15 |
G |
T |
16: 97,609,875 (GRCm39) |
H590N |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,079,874 (GRCm39) |
I442M |
probably damaging |
Het |
| Pygm |
C |
A |
19: 6,439,494 (GRCm39) |
D279E |
probably benign |
Het |
| Rrn3 |
T |
A |
16: 13,610,798 (GRCm39) |
|
probably null |
Het |
| Sass6 |
T |
C |
3: 116,407,702 (GRCm39) |
S273P |
possibly damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,270 (GRCm39) |
M116V |
probably benign |
Het |
| Sdc3 |
G |
A |
4: 130,546,087 (GRCm39) |
V55I |
unknown |
Het |
| Serpinb8 |
T |
A |
1: 107,525,201 (GRCm39) |
M1K |
probably null |
Het |
| Slc24a5 |
T |
C |
2: 124,927,739 (GRCm39) |
I346T |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,117,846 (GRCm39) |
I335N |
probably damaging |
Het |
| Snapc2 |
T |
A |
8: 4,305,299 (GRCm39) |
V147E |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,322,784 (GRCm39) |
S56P |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
T |
17: 35,040,400 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,911,702 (GRCm39) |
E692G |
probably benign |
Het |
| Tet1 |
C |
T |
10: 62,674,450 (GRCm39) |
V1209I |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,539,406 (GRCm39) |
T1639A |
probably benign |
Het |
| Tmem135 |
G |
T |
7: 88,845,335 (GRCm39) |
Y165* |
probably null |
Het |
| Tmprss6 |
T |
C |
15: 78,336,707 (GRCm39) |
T398A |
probably damaging |
Het |
| Ube4a |
C |
T |
9: 44,851,258 (GRCm39) |
|
probably null |
Het |
| Vmn1r227 |
T |
C |
17: 20,955,499 (GRCm39) |
|
noncoding transcript |
Het |
| Wdhd1 |
T |
C |
14: 47,488,273 (GRCm39) |
S745G |
probably benign |
Het |
| Xylt1 |
A |
G |
7: 117,191,263 (GRCm39) |
H353R |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,980 (GRCm39) |
T539A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,091 (GRCm39) |
F510I |
possibly 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 |
|
|
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 |
|
R9344:Lrrd1
|
UTSW |
5 |
3,908,819 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
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'- TGCTACACAGAAGCCCAAGG -3'
(R):5'- ATGCCCACTTTATGCATTGAC -3'
Sequencing Primer
(F):5'- GGCTGGAACAAAACTCTATTCTTCC -3'
(R):5'- GACACATACCTCTGAGATCT -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation