Incidental Mutation 'R3195:Paqr8'
| ID |
267578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paqr8
|
| Ensembl Gene |
ENSMUSG00000025931 |
| Gene Name |
progestin and adipoQ receptor family member VIII |
| Synonyms |
1700019B16Rik, 3110001D06Rik |
| MMRRC Submission |
040616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
20960830-21009874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21005257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 137
(E137G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068880]
[ENSMUST00000167119]
[ENSMUST00000187651]
[ENSMUST00000189400]
|
| AlphaFold |
Q80ZE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068880
AA Change: E137G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000069127
Gene: ENSMUSG00000025931
AA Change: E137G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
70 |
297 |
1.7e-47 |
PFAM |
|
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167119
AA Change: E137G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128781
Gene: ENSMUSG00000025931
AA Change: E137G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
70 |
297 |
1.2e-53 |
PFAM |
|
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187651
AA Change: E137G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140913
Gene: ENSMUSG00000025931
AA Change: E137G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
70 |
297 |
1.7e-47 |
PFAM |
|
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189400
AA Change: E137G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141054
Gene: ENSMUSG00000025931
AA Change: E137G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
70 |
297 |
1.7e-47 |
PFAM |
|
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6979 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
| Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
| Calb2 |
C |
T |
8: 110,883,635 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,182,454 (GRCm39) |
|
probably benign |
Het |
| Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,921,236 (GRCm39) |
T204A |
probably benign |
Het |
| Gapdh |
T |
C |
6: 125,139,583 (GRCm39) |
N229S |
possibly damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
| Iqub |
G |
C |
6: 24,462,036 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| L1td1 |
A |
G |
4: 98,625,755 (GRCm39) |
E650G |
possibly damaging |
Het |
| Lilra5 |
G |
A |
7: 4,241,756 (GRCm39) |
G185D |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,615,584 (GRCm39) |
S323P |
possibly damaging |
Het |
| Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,466,801 (GRCm39) |
C283Y |
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,639,991 (GRCm39) |
L122P |
probably damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,427 (GRCm39) |
F106L |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,484 (GRCm39) |
Y278C |
possibly damaging |
Het |
| Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,925,736 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,245,418 (GRCm39) |
I730N |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,245,861 (GRCm39) |
V595M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,661,222 (GRCm39) |
E939G |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,913,879 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
T |
A |
7: 63,849,061 (GRCm39) |
Y102* |
probably null |
Het |
| Usp42 |
A |
G |
5: 143,702,954 (GRCm39) |
S556P |
probably benign |
Het |
| Zfp957 |
A |
G |
14: 79,450,332 (GRCm39) |
V489A |
probably damaging |
Het |
|
| Other mutations in Paqr8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01996:Paqr8
|
APN |
1 |
21,005,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02720:Paqr8
|
APN |
1 |
21,005,733 (GRCm39) |
nonsense |
probably null |
|
|
LCD18:Paqr8
|
UTSW |
1 |
20,984,882 (GRCm39) |
intron |
probably benign |
|
|
R0190:Paqr8
|
UTSW |
1 |
21,005,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0566:Paqr8
|
UTSW |
1 |
21,005,687 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1491:Paqr8
|
UTSW |
1 |
21,005,048 (GRCm39) |
missense |
probably benign |
|
|
R1885:Paqr8
|
UTSW |
1 |
21,005,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:Paqr8
|
UTSW |
1 |
21,005,856 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3752:Paqr8
|
UTSW |
1 |
21,005,856 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3753:Paqr8
|
UTSW |
1 |
21,005,856 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4748:Paqr8
|
UTSW |
1 |
21,005,637 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5207:Paqr8
|
UTSW |
1 |
21,005,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5264:Paqr8
|
UTSW |
1 |
21,005,332 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5267:Paqr8
|
UTSW |
1 |
21,004,920 (GRCm39) |
missense |
probably benign |
|
|
R7389:Paqr8
|
UTSW |
1 |
21,005,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Paqr8
|
UTSW |
1 |
21,005,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Paqr8
|
UTSW |
1 |
21,005,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9007:Paqr8
|
UTSW |
1 |
21,005,614 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9231:Paqr8
|
UTSW |
1 |
21,005,875 (GRCm39) |
missense |
probably benign |
|
|
R9266:Paqr8
|
UTSW |
1 |
21,005,863 (GRCm39) |
missense |
probably benign |
|
|
R9313:Paqr8
|
UTSW |
1 |
21,005,128 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Paqr8
|
UTSW |
1 |
21,005,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCAGAAGCACAACGAGGTG -3'
(R):5'- TCGGTAGCGATACTTGGCATAAC -3'
Sequencing Primer
(F):5'- GTCAACGTCTGGACCCACTTG -3'
(R):5'- TAGCGATACTTGGCATAACAACAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation