Incidental Mutation 'R0686:Paqr5'
| ID |
61178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paqr5
|
| Ensembl Gene |
ENSMUSG00000032278 |
| Gene Name |
progestin and adipoQ receptor family member V |
| Synonyms |
0610010I15Rik, mPRg |
| MMRRC Submission |
038871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R0686 (G1)
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
61861020-61934085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 61880076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 59
(T59P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034817]
[ENSMUST00000113990]
|
| AlphaFold |
Q9DCU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034817
AA Change: T73P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034817
Gene: ENSMUSG00000032278
AA Change: T73P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
43 |
269 |
1.6e-59 |
PFAM |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113990
AA Change: T59P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109623
Gene: ENSMUSG00000032278
AA Change: T59P
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
C |
T |
5: 138,562,799 (GRCm39) |
E42K |
possibly damaging |
Het |
| Arhgef12 |
A |
C |
9: 42,904,324 (GRCm39) |
L718R |
probably benign |
Het |
| Bsx |
T |
G |
9: 40,787,733 (GRCm39) |
S136A |
probably damaging |
Het |
| Ccne2 |
T |
A |
4: 11,197,220 (GRCm39) |
M174K |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,749,077 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ckb |
A |
G |
12: 111,636,627 (GRCm39) |
V249A |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2r1 |
T |
G |
7: 114,151,246 (GRCm39) |
M358L |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Eeig2 |
G |
A |
3: 108,900,001 (GRCm39) |
R116C |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,480,449 (GRCm39) |
D563E |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,037,516 (GRCm39) |
L356I |
probably damaging |
Het |
| Fpr-rs4 |
A |
C |
17: 18,242,613 (GRCm39) |
I207L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,571,935 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
A |
T |
9: 54,811,460 (GRCm39) |
I755L |
probably benign |
Het |
| Kctd9 |
A |
G |
14: 67,966,185 (GRCm39) |
T101A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,570,811 (GRCm39) |
S1R |
possibly damaging |
Het |
| Ltbr |
T |
C |
6: 125,285,024 (GRCm39) |
D292G |
possibly damaging |
Het |
| Med1 |
G |
A |
11: 98,049,230 (GRCm39) |
T507I |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,585 (GRCm39) |
M101K |
probably damaging |
Het |
| Or8g37 |
A |
C |
9: 39,730,964 (GRCm39) |
T10P |
probably damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,805,753 (GRCm39) |
L74* |
probably null |
Het |
| Prim2 |
T |
C |
1: 33,553,270 (GRCm39) |
T264A |
probably benign |
Het |
| Prss59 |
G |
A |
6: 40,905,452 (GRCm39) |
S68F |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Simc1 |
T |
A |
13: 54,673,003 (GRCm39) |
S450R |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,844,483 (GRCm39) |
N796I |
probably damaging |
Het |
| Vmn1r214 |
T |
A |
13: 23,218,962 (GRCm39) |
I152N |
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 |
|
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 |
|
R6728: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'- CGTACCCAGGCTGAAGAGATTGAC -3'
(R):5'- TGGCTAGAGGCCATGCAAATATGAC -3'
Sequencing Primer
(F):5'- GAGATTGACGGCACCATAGTCC -3'
(R):5'- tgggaaagatgctgttggg -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation