Incidental Mutation 'R7597:Pira2'
| ID |
587782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira2
|
| Ensembl Gene |
ENSMUSG00000089942 |
| Gene Name |
paired-Ig-like receptor A2 |
| Synonyms |
6M23 |
| MMRRC Submission |
045672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7597 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3839811-3848050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3845460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 308
(D308G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108615]
[ENSMUST00000119469]
|
| AlphaFold |
F8VQ94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108615
AA Change: D308G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: D308G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
IG
|
34 |
118 |
2.39e-1 |
SMART |
|
IG_like
|
129 |
220 |
1.94e1 |
SMART |
|
IG
|
231 |
315 |
7.77e-1 |
SMART |
|
IG
|
328 |
415 |
3.36e0 |
SMART |
|
IG_like
|
435 |
502 |
3.18e0 |
SMART |
|
IG
|
529 |
618 |
8.59e-3 |
SMART |
|
low complexity region
|
654 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119469
AA Change: D308G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: D308G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
IG
|
34 |
118 |
2.39e-1 |
SMART |
|
IG_like
|
129 |
220 |
1.94e1 |
SMART |
|
IG
|
231 |
315 |
7.77e-1 |
SMART |
|
IG
|
328 |
415 |
3.36e0 |
SMART |
|
IG_like
|
435 |
502 |
3.18e0 |
SMART |
|
IG
|
529 |
618 |
8.59e-3 |
SMART |
|
low complexity region
|
637 |
646 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,644,661 (GRCm39) |
L838P |
probably damaging |
Het |
| Adam34l |
T |
G |
8: 44,078,281 (GRCm39) |
N648H |
probably damaging |
Het |
| Adgrl4 |
T |
A |
3: 151,248,895 (GRCm39) |
F728I |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,184,304 (GRCm39) |
V7A |
probably benign |
Het |
| B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
| C4b |
A |
T |
17: 34,958,649 (GRCm39) |
S562T |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,422,121 (GRCm39) |
Y1130C |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,024,740 (GRCm39) |
K328* |
probably null |
Het |
| Col18a1 |
T |
C |
10: 76,949,137 (GRCm39) |
D125G |
unknown |
Het |
| Cxadr |
T |
C |
16: 78,125,996 (GRCm39) |
V122A |
probably damaging |
Het |
| Cyp2d22 |
G |
A |
15: 82,260,053 (GRCm39) |
P44S |
probably damaging |
Het |
| Elapor1 |
A |
G |
3: 108,378,745 (GRCm39) |
V351A |
possibly damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,148,964 (GRCm39) |
T74A |
probably benign |
Het |
| Gfm2 |
C |
A |
13: 97,309,086 (GRCm39) |
A597E |
probably benign |
Het |
| H2-T22 |
T |
C |
17: 36,351,408 (GRCm39) |
Y274C |
probably damaging |
Het |
| Has2 |
C |
A |
15: 56,531,817 (GRCm39) |
W299C |
probably damaging |
Het |
| Hsd17b6 |
A |
G |
10: 127,827,227 (GRCm39) |
S282P |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,110,676 (GRCm39) |
I972V |
probably benign |
Het |
| Itih5 |
T |
A |
2: 10,254,187 (GRCm39) |
Y813N |
probably damaging |
Het |
| Kctd16 |
A |
G |
18: 40,663,848 (GRCm39) |
T326A |
possibly damaging |
Het |
| Klhdc1 |
T |
C |
12: 69,316,642 (GRCm39) |
S342P |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,742,650 (GRCm39) |
I1682M |
unknown |
Het |
| Lamc1 |
T |
C |
1: 153,116,200 (GRCm39) |
K994E |
possibly damaging |
Het |
| Lig1 |
T |
G |
7: 13,030,270 (GRCm39) |
S416A |
probably benign |
Het |
| Lims1 |
A |
G |
10: 58,248,263 (GRCm39) |
E240G |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,399,316 (GRCm39) |
M76V |
probably benign |
Het |
| Lrrtm4 |
T |
A |
6: 79,999,428 (GRCm39) |
L280* |
probably null |
Het |
| Mfap3l |
A |
T |
8: 61,124,315 (GRCm39) |
I186F |
possibly damaging |
Het |
| Mta3 |
T |
C |
17: 84,083,011 (GRCm39) |
F234L |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Mybpc2 |
C |
T |
7: 44,159,223 (GRCm39) |
G609D |
probably damaging |
Het |
| Naga |
A |
T |
15: 82,219,035 (GRCm39) |
D237E |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nbn |
G |
A |
4: 15,963,911 (GRCm39) |
S104N |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,816,637 (GRCm39) |
L60P |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,925 (GRCm39) |
F212I |
probably benign |
Het |
| Or8b1b |
G |
A |
9: 38,375,802 (GRCm39) |
G155D |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,727,601 (GRCm39) |
T2153I |
unknown |
Het |
| Pclo |
A |
C |
5: 14,908,869 (GRCm39) |
K5059T |
unknown |
Het |
| Pdlim2 |
C |
A |
14: 70,403,645 (GRCm39) |
A256S |
possibly damaging |
Het |
| Proc |
G |
T |
18: 32,256,689 (GRCm39) |
A326E |
probably damaging |
Het |
| Rab40b |
T |
C |
11: 121,248,709 (GRCm39) |
D182G |
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,937 (GRCm39) |
S703P |
possibly damaging |
Het |
| Rdx |
C |
T |
9: 51,972,196 (GRCm39) |
P2L |
possibly damaging |
Het |
| Recql5 |
T |
C |
11: 115,819,207 (GRCm39) |
K120E |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,698,880 (GRCm39) |
R1126C |
probably damaging |
Het |
| Slc2a6 |
G |
T |
2: 26,917,195 (GRCm39) |
D70E |
possibly damaging |
Het |
| Slc6a17 |
A |
T |
3: 107,378,668 (GRCm39) |
D671E |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 55,018,857 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
A |
G |
5: 23,753,517 (GRCm39) |
Y79H |
possibly damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,439,167 (GRCm39) |
I361K |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,255,918 (GRCm39) |
Y191C |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,803,812 (GRCm39) |
V1135A |
possibly damaging |
Het |
| Usp12 |
C |
A |
5: 146,691,179 (GRCm39) |
|
probably null |
Het |
| Vmn1r44 |
C |
A |
6: 89,870,818 (GRCm39) |
P188Q |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,356,099 (GRCm39) |
V3620D |
possibly damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,239 (GRCm39) |
S294T |
unknown |
Het |
| Zfp800 |
T |
C |
6: 28,260,764 (GRCm39) |
D5G |
probably damaging |
Het |
| Zfp87 |
C |
T |
13: 67,665,412 (GRCm39) |
R350Q |
probably benign |
Het |
|
| Other mutations in Pira2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Pira2
|
APN |
7 |
3,847,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01810:Pira2
|
APN |
7 |
3,847,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03167:Pira2
|
APN |
7 |
3,843,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03171:Pira2
|
APN |
7 |
3,845,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Pira2
|
UTSW |
7 |
3,845,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB019:Pira2
|
UTSW |
7 |
3,845,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4260001:Pira2
|
UTSW |
7 |
3,845,173 (GRCm39) |
missense |
probably benign |
|
|
PIT4260001:Pira2
|
UTSW |
7 |
3,845,169 (GRCm39) |
missense |
probably benign |
|
|
PIT4260001:Pira2
|
UTSW |
7 |
3,845,172 (GRCm39) |
missense |
probably benign |
|
|
R0517:Pira2
|
UTSW |
7 |
3,847,196 (GRCm39) |
splice site |
probably benign |
|
|
R1565:Pira2
|
UTSW |
7 |
3,847,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Pira2
|
UTSW |
7 |
3,847,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Pira2
|
UTSW |
7 |
3,847,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Pira2
|
UTSW |
7 |
3,847,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Pira2
|
UTSW |
7 |
3,847,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Pira2
|
UTSW |
7 |
3,847,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Pira2
|
UTSW |
7 |
3,847,417 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3118:Pira2
|
UTSW |
7 |
3,844,676 (GRCm39) |
nonsense |
probably null |
|
|
R4658:Pira2
|
UTSW |
7 |
3,843,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Pira2
|
UTSW |
7 |
3,847,592 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5228:Pira2
|
UTSW |
7 |
3,847,373 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5583:Pira2
|
UTSW |
7 |
3,845,545 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5974:Pira2
|
UTSW |
7 |
3,844,576 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6120:Pira2
|
UTSW |
7 |
3,844,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Pira2
|
UTSW |
7 |
3,845,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6392:Pira2
|
UTSW |
7 |
3,846,901 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6658:Pira2
|
UTSW |
7 |
3,845,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6790:Pira2
|
UTSW |
7 |
3,845,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Pira2
|
UTSW |
7 |
3,844,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7336:Pira2
|
UTSW |
7 |
3,847,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7777:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7861:Pira2
|
UTSW |
7 |
3,847,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Pira2
|
UTSW |
7 |
3,845,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7977:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7984:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7985:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7987:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R8017:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R8017:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R8019:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R8389:Pira2
|
UTSW |
7 |
3,846,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Pira2
|
UTSW |
7 |
3,845,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Pira2
|
UTSW |
7 |
3,845,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:Pira2
|
UTSW |
7 |
3,844,030 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9766:Pira2
|
UTSW |
7 |
3,845,517 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGACAGCCTGGGTTCATAG -3'
(R):5'- TCTGTGATCACCTCCAAAAGAG -3'
Sequencing Primer
(F):5'- ACTGACAGCCTGGGTTCATAGTATTC -3'
(R):5'- CATCTGGTGTCAGGGGAAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation