Incidental Mutation 'R6728:Paqr5'
| ID |
529948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paqr5
|
| Ensembl Gene |
ENSMUSG00000032278 |
| Gene Name |
progestin and adipoQ receptor family member V |
| Synonyms |
0610010I15Rik, mPRg |
| MMRRC Submission |
044846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R6728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
61861020-61934085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61871065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 171
(R171Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034817]
[ENSMUST00000113990]
|
| AlphaFold |
Q9DCU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034817
AA Change: R185Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034817
Gene: ENSMUSG00000032278
AA Change: R185Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
43 |
269 |
1.6e-59 |
PFAM |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113990
AA Change: R171Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109623
Gene: ENSMUSG00000032278
AA Change: R171Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
29 |
255 |
6.4e-51 |
PFAM |
|
transmembrane domain
|
281 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135050
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,645 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adcy5 |
T |
A |
16: 34,977,535 (GRCm39) |
V356E |
possibly damaging |
Het |
| Agmat |
G |
T |
4: 141,476,897 (GRCm39) |
C101F |
probably benign |
Het |
| Aoc1l3 |
T |
C |
6: 48,965,779 (GRCm39) |
S596P |
possibly damaging |
Het |
| Atl1 |
T |
C |
12: 69,994,324 (GRCm39) |
V276A |
possibly damaging |
Het |
| Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
| Camk4 |
A |
T |
18: 33,317,992 (GRCm39) |
E383V |
probably benign |
Het |
| Cap2 |
G |
A |
13: 46,793,335 (GRCm39) |
E234K |
possibly damaging |
Het |
| Col24a1 |
A |
T |
3: 145,020,957 (GRCm39) |
M443L |
probably benign |
Het |
| Cyp17a1 |
A |
G |
19: 46,657,673 (GRCm39) |
V293A |
probably benign |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,284,664 (GRCm39) |
S1162P |
probably benign |
Het |
| Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Kin |
G |
A |
2: 10,094,959 (GRCm39) |
R82Q |
possibly damaging |
Het |
| Ninl |
G |
T |
2: 150,817,777 (GRCm39) |
S129* |
probably null |
Het |
| Or11h4 |
T |
C |
14: 50,974,296 (GRCm39) |
T108A |
possibly damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,018 (GRCm39) |
D231E |
probably benign |
Het |
| Platr25 |
G |
A |
13: 62,848,197 (GRCm39) |
H222Y |
probably damaging |
Het |
| Plcb2 |
G |
T |
2: 118,554,171 (GRCm39) |
S94Y |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,011,737 (GRCm39) |
Y722H |
probably benign |
Het |
| Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
| Thsd4 |
T |
C |
9: 59,904,480 (GRCm39) |
D572G |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,802,727 (GRCm39) |
L1510H |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,840,098 (GRCm39) |
S433P |
probably damaging |
Het |
| Vegfc |
T |
C |
8: 54,639,057 (GRCm39) |
V401A |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,196,453 (GRCm39) |
M27V |
probably damaging |
Het |
|
| Other mutations in Paqr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02893:Paqr5
|
APN |
9 |
61,876,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03190:Paqr5
|
APN |
9 |
61,880,084 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4480001:Paqr5
|
UTSW |
9 |
61,863,438 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0528:Paqr5
|
UTSW |
9 |
61,863,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0686:Paqr5
|
UTSW |
9 |
61,880,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0688:Paqr5
|
UTSW |
9 |
61,880,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1323:Paqr5
|
UTSW |
9 |
61,868,810 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1323:Paqr5
|
UTSW |
9 |
61,868,810 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2872:Paqr5
|
UTSW |
9 |
61,876,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2872:Paqr5
|
UTSW |
9 |
61,876,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5663:Paqr5
|
UTSW |
9 |
61,876,144 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6726:Paqr5
|
UTSW |
9 |
61,871,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Paqr5
|
UTSW |
9 |
61,871,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6796:Paqr5
|
UTSW |
9 |
61,871,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Paqr5
|
UTSW |
9 |
61,876,064 (GRCm39) |
missense |
probably null |
1.00 |
|
R6857:Paqr5
|
UTSW |
9 |
61,883,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Paqr5
|
UTSW |
9 |
61,880,113 (GRCm39) |
nonsense |
probably null |
|
|
R7456:Paqr5
|
UTSW |
9 |
61,880,072 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8362:Paqr5
|
UTSW |
9 |
61,879,945 (GRCm39) |
nonsense |
probably null |
|
|
R9204:Paqr5
|
UTSW |
9 |
61,868,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9475:Paqr5
|
UTSW |
9 |
61,863,507 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9508:Paqr5
|
UTSW |
9 |
61,880,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9549:Paqr5
|
UTSW |
9 |
61,863,543 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCCAAGGGCCTCTGTGTTC -3'
(R):5'- AAGGCTCGTGAGAAGCTGTG -3'
Sequencing Primer
(F):5'- AAGGGCCTCTGTGTTCAGACTATC -3'
(R):5'- AGAAGCTGTGGTCCATGGTCC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation