Incidental Mutation 'R1323:Paqr5'
| ID |
172459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paqr5
|
| Ensembl Gene |
ENSMUSG00000032278 |
| Gene Name |
progestin and adipoQ receptor family member V |
| Synonyms |
0610010I15Rik, mPRg |
| MMRRC Submission |
039389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R1323 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
61861020-61934085 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 61868810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034817]
[ENSMUST00000113990]
[ENSMUST00000113990]
|
| AlphaFold |
Q9DCU0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034817
|
| SMART Domains |
Protein: ENSMUSP00000034817
Gene: ENSMUSG00000032278
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
43 |
269 |
1.6e-59 |
PFAM |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113990
|
| SMART Domains |
Protein: ENSMUSP00000109623
Gene: ENSMUSG00000032278
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
29 |
255 |
6.4e-51 |
PFAM |
|
transmembrane domain
|
281 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113990
|
| SMART Domains |
Protein: ENSMUSP00000109623
Gene: ENSMUSG00000032278
| 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: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,240,937 (GRCm39) |
F933L |
possibly damaging |
Het |
| Abcc8 |
T |
G |
7: 45,766,786 (GRCm39) |
Q998P |
probably benign |
Het |
| Akr1e1 |
C |
T |
13: 4,657,547 (GRCm39) |
G17E |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,805,609 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,443 (GRCm39) |
I1524V |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,851 (GRCm39) |
L103P |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,259,864 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
G |
11: 102,334,951 (GRCm39) |
D62A |
probably damaging |
Het |
| Firrm |
C |
A |
1: 163,783,030 (GRCm39) |
|
probably benign |
Het |
| Frzb |
G |
A |
2: 80,243,720 (GRCm39) |
P320S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,816,096 (GRCm39) |
G3943V |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,437,278 (GRCm39) |
P10L |
possibly damaging |
Het |
| Grm8 |
A |
G |
6: 28,125,973 (GRCm39) |
L51P |
probably damaging |
Het |
| H2af-ps2 |
T |
G |
13: 51,357,100 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
C |
3: 3,699,281 (GRCm39) |
S4P |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,059,527 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
A |
G |
9: 15,774,432 (GRCm39) |
F209S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,689,778 (GRCm39) |
R313Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| S100a14 |
T |
C |
3: 90,435,043 (GRCm39) |
V18A |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 177,989,414 (GRCm39) |
S1441R |
possibly damaging |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,313 (GRCm39) |
D770N |
probably damaging |
Het |
| Zfp600 |
A |
G |
4: 146,133,261 (GRCm39) |
Y643C |
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 |
|
|
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'- CATTGGAATGCCTACCTGTGTCCC -3'
(R):5'- GATAGGACTGCTCTACAATGCCTGC -3'
Sequencing Primer
(F):5'- TCCCTGGCAGTGTAGTAGC -3'
(R):5'- ccctcccttcctccctc -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation