Incidental Mutation 'R6122:Pira2'
| ID |
485763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira2
|
| Ensembl Gene |
ENSMUSG00000089942 |
| Gene Name |
paired-Ig-like receptor A2 |
| Synonyms |
6M23 |
| MMRRC Submission |
044269-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6122 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3839811-3848050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3845445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 313
(V313E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108615]
[ENSMUST00000119469]
|
| AlphaFold |
F8VQ94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108615
AA Change: V313E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: V313E
| 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: V313E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: V313E
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,750 (GRCm39) |
*301W |
probably null |
Het |
| Abat |
A |
G |
16: 8,423,414 (GRCm39) |
I236V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,961,249 (GRCm39) |
T558A |
probably benign |
Het |
| Ace3 |
A |
C |
11: 105,885,764 (GRCm39) |
M57L |
probably benign |
Het |
| Adgrg1 |
T |
C |
8: 95,729,129 (GRCm39) |
S18P |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,934,064 (GRCm39) |
D60G |
probably benign |
Het |
| Ap4e1 |
T |
A |
2: 126,870,080 (GRCm39) |
|
probably null |
Het |
| Arnt2 |
C |
A |
7: 84,010,773 (GRCm39) |
K34N |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,494,021 (GRCm39) |
M152K |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
| Blvrb |
G |
A |
7: 27,158,773 (GRCm39) |
A58T |
possibly damaging |
Het |
| Bpifa1 |
C |
T |
2: 153,985,892 (GRCm39) |
T69I |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,320,997 (GRCm39) |
M1366L |
probably benign |
Het |
| Ccdc82 |
A |
G |
9: 13,266,880 (GRCm39) |
I361V |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,631,927 (GRCm39) |
I193F |
possibly damaging |
Het |
| Crb1 |
A |
T |
1: 139,176,686 (GRCm39) |
Y371* |
probably null |
Het |
| Cul9 |
T |
C |
17: 46,832,854 (GRCm39) |
D1363G |
possibly damaging |
Het |
| Cyp2j8 |
C |
T |
4: 96,332,877 (GRCm39) |
A490T |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,086,637 (GRCm39) |
S780T |
probably benign |
Het |
| Fzd5 |
G |
T |
1: 64,774,815 (GRCm39) |
C315* |
probably null |
Het |
| Gabrr1 |
T |
C |
4: 33,161,695 (GRCm39) |
S340P |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,979,200 (GRCm39) |
D641G |
probably damaging |
Het |
| Gm7133 |
A |
G |
1: 97,110,948 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
A |
G |
17: 79,120,602 (GRCm39) |
L774P |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,015,985 (GRCm39) |
S157T |
probably benign |
Het |
| Itgam |
A |
C |
7: 127,684,824 (GRCm39) |
D398A |
probably damaging |
Het |
| Kalrn |
G |
T |
16: 33,805,561 (GRCm39) |
L2659M |
possibly damaging |
Het |
| Kcnj14 |
C |
A |
7: 45,468,875 (GRCm39) |
R210L |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,758,573 (GRCm39) |
|
probably benign |
Het |
| Krt1c |
G |
C |
15: 101,724,349 (GRCm39) |
T305S |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,342,441 (GRCm39) |
N1645D |
probably damaging |
Het |
| Naf1 |
T |
A |
8: 67,336,096 (GRCm39) |
I341K |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,937,317 (GRCm39) |
H765N |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,975,278 (GRCm39) |
I776V |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,824,291 (GRCm39) |
D712E |
probably benign |
Het |
| Neu1 |
G |
A |
17: 35,153,730 (GRCm39) |
V385I |
probably benign |
Het |
| Or14j3 |
C |
A |
17: 37,900,817 (GRCm39) |
R142S |
probably benign |
Het |
| Or51a6 |
C |
A |
7: 102,604,011 (GRCm39) |
G273C |
probably damaging |
Het |
| Or51a6 |
A |
G |
7: 102,604,737 (GRCm39) |
Y24H |
probably benign |
Het |
| Pgghg |
A |
C |
7: 140,523,308 (GRCm39) |
T196P |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,809,107 (GRCm39) |
R28G |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,509 (GRCm39) |
N21K |
probably damaging |
Het |
| Prune1 |
T |
C |
3: 95,169,554 (GRCm39) |
D216G |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,216,893 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,301,351 (GRCm39) |
M668K |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpsa |
G |
T |
9: 119,960,102 (GRCm39) |
V222L |
probably benign |
Het |
| Septin2 |
A |
G |
1: 93,425,098 (GRCm39) |
T45A |
probably damaging |
Het |
| Slc12a8 |
A |
T |
16: 33,445,384 (GRCm39) |
D260V |
probably damaging |
Het |
| Srrm2 |
G |
T |
17: 24,039,330 (GRCm39) |
M2087I |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,700,306 (GRCm39) |
L88P |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 73,991,578 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
T |
9: 103,224,160 (GRCm39) |
D1429V |
probably benign |
Het |
| Tprg1 |
A |
G |
16: 25,241,151 (GRCm39) |
|
probably null |
Het |
| Trit1 |
T |
C |
4: 122,933,261 (GRCm39) |
I66T |
possibly damaging |
Het |
| Usf3 |
A |
T |
16: 44,037,670 (GRCm39) |
I717L |
probably damaging |
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 |
|
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 |
|
R7597:Pira2
|
UTSW |
7 |
3,845,460 (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'- TCTGTGATCACCTCCAAAAGAGC -3'
Sequencing Primer
(F):5'- ACTGACAGCCTGGGTTCATAGTATTC -3'
(R):5'- CATCTGGTGTCAGGGGAAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation