Incidental Mutation 'R5196:Odr4'
| ID |
400208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Odr4
|
| Ensembl Gene |
ENSMUSG00000006010 |
| Gene Name |
odr4 GPCR localization factor homolog |
| Synonyms |
BC003331, 1810053E15Rik |
| MMRRC Submission |
042772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.783)
|
| Stock # |
R5196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
150237056-150268831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150258140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 165
(D165V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006167]
[ENSMUST00000094477]
[ENSMUST00000097546]
[ENSMUST00000097547]
[ENSMUST00000111913]
|
| AlphaFold |
Q4PJX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006167
AA Change: D165V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010
AA Change: D165V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
364 |
1.8e-107 |
PFAM |
|
transmembrane domain
|
402 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094477
AA Change: D165V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010
AA Change: D165V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
383 |
2.8e-120 |
PFAM |
|
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097546
AA Change: D165V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010
AA Change: D165V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
364 |
1.8e-107 |
PFAM |
|
transmembrane domain
|
402 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097547
AA Change: D165V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010
AA Change: D165V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
209 |
1.2e-57 |
PFAM |
|
Pfam:ODR4-like
|
206 |
354 |
3.1e-43 |
PFAM |
|
transmembrane domain
|
392 |
414 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111913
AA Change: D165V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010
AA Change: D165V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ODR4-like
|
28 |
386 |
7.1e-113 |
PFAM |
|
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150615
|
| Meta Mutation Damage Score |
0.2609 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,686,450 (GRCm39) |
T281A |
possibly damaging |
Het |
| 4930503B20Rik |
A |
G |
3: 146,352,018 (GRCm39) |
|
probably benign |
Het |
| 6330409D20Rik |
T |
A |
2: 32,630,552 (GRCm39) |
|
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Amigo2 |
A |
G |
15: 97,143,942 (GRCm39) |
F160S |
probably damaging |
Het |
| Arcn1 |
A |
T |
9: 44,671,324 (GRCm39) |
L68M |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,607,830 (GRCm39) |
S163T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,913,136 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,075,737 (GRCm39) |
I5V |
probably benign |
Het |
| Ccm2 |
G |
A |
11: 6,511,181 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,899,978 (GRCm39) |
V431A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,065,730 (GRCm39) |
M668K |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,729 (GRCm39) |
Y129C |
probably damaging |
Het |
| Chrna5 |
A |
G |
9: 54,913,803 (GRCm39) |
I421V |
possibly damaging |
Het |
| Clk1 |
T |
A |
1: 58,453,772 (GRCm39) |
T301S |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,744,260 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,302,006 (GRCm39) |
N183I |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,479,845 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
| Gm9847 |
T |
A |
12: 14,545,016 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
A |
G |
17: 36,343,499 (GRCm39) |
|
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,347,915 (GRCm39) |
E613G |
probably damaging |
Het |
| Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
| Klrb1c |
T |
A |
6: 128,757,262 (GRCm39) |
S268C |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,042,330 (GRCm39) |
E245G |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,240,889 (GRCm39) |
I220N |
probably damaging |
Het |
| Mfap3 |
A |
G |
11: 57,420,639 (GRCm39) |
T207A |
probably damaging |
Het |
| Mtdh |
G |
T |
15: 34,118,150 (GRCm39) |
K75N |
probably damaging |
Het |
| Mybpc1 |
A |
G |
10: 88,372,213 (GRCm39) |
Y806H |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,299 (GRCm39) |
D158G |
probably damaging |
Het |
| Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,650 (GRCm39) |
D87V |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,237,805 (GRCm39) |
|
probably benign |
Het |
| Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
| Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 78,291,626 (GRCm39) |
V333M |
probably benign |
Het |
| Pten |
A |
T |
19: 32,792,897 (GRCm39) |
M239L |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
| Reg2 |
T |
A |
6: 78,382,530 (GRCm39) |
L12* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc5a7 |
C |
A |
17: 54,588,750 (GRCm39) |
|
probably null |
Het |
| Tcaf3 |
G |
T |
6: 42,570,649 (GRCm39) |
R368S |
probably benign |
Het |
| Tfcp2 |
A |
G |
15: 100,418,595 (GRCm39) |
V189A |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,126,243 (GRCm39) |
S191G |
probably damaging |
Het |
| Zfp536 |
G |
A |
7: 37,180,185 (GRCm39) |
R807W |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Odr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01876:Odr4
|
APN |
1 |
150,258,089 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02189:Odr4
|
APN |
1 |
150,247,784 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02257:Odr4
|
APN |
1 |
150,262,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02485:Odr4
|
APN |
1 |
150,239,240 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02585:Odr4
|
APN |
1 |
150,239,272 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02712:Odr4
|
APN |
1 |
150,262,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02902:Odr4
|
APN |
1 |
150,260,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03014:Odr4
|
APN |
1 |
150,258,804 (GRCm39) |
splice site |
probably benign |
|
|
IGL03124:Odr4
|
APN |
1 |
150,262,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03181:Odr4
|
APN |
1 |
150,239,290 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03344:Odr4
|
APN |
1 |
150,239,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1170:Odr4
|
UTSW |
1 |
150,262,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1796:Odr4
|
UTSW |
1 |
150,251,305 (GRCm39) |
missense |
probably benign |
|
|
R1902:Odr4
|
UTSW |
1 |
150,264,360 (GRCm39) |
splice site |
probably null |
|
|
R2149:Odr4
|
UTSW |
1 |
150,264,310 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2155:Odr4
|
UTSW |
1 |
150,258,086 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2375:Odr4
|
UTSW |
1 |
150,265,985 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3786:Odr4
|
UTSW |
1 |
150,260,282 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3948:Odr4
|
UTSW |
1 |
150,264,308 (GRCm39) |
nonsense |
probably null |
|
|
R4589:Odr4
|
UTSW |
1 |
150,260,238 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4590:Odr4
|
UTSW |
1 |
150,262,103 (GRCm39) |
splice site |
probably null |
|
|
R4815:Odr4
|
UTSW |
1 |
150,250,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5437:Odr4
|
UTSW |
1 |
150,239,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5549:Odr4
|
UTSW |
1 |
150,247,909 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5677:Odr4
|
UTSW |
1 |
150,250,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Odr4
|
UTSW |
1 |
150,256,111 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6472:Odr4
|
UTSW |
1 |
150,257,273 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7108:Odr4
|
UTSW |
1 |
150,258,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7402:Odr4
|
UTSW |
1 |
150,262,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7662:Odr4
|
UTSW |
1 |
150,258,045 (GRCm39) |
missense |
probably benign |
|
|
R7767:Odr4
|
UTSW |
1 |
150,247,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Odr4
|
UTSW |
1 |
150,268,659 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R7916:Odr4
|
UTSW |
1 |
150,260,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8114:Odr4
|
UTSW |
1 |
150,264,308 (GRCm39) |
nonsense |
probably null |
|
|
R8120:Odr4
|
UTSW |
1 |
150,260,177 (GRCm39) |
splice site |
probably null |
|
|
R8435:Odr4
|
UTSW |
1 |
150,258,020 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9397:Odr4
|
UTSW |
1 |
150,238,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATTAACAGCAGAGGGCCCAC -3'
(R):5'- CTGTCGAGCTTGTATGAAAGTAAG -3'
Sequencing Primer
(F):5'- GCCCACTCAGCCATCACTG -3'
(R):5'- CCCTGAAGTCAGGGAATTT -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation