Incidental Mutation 'R8514:Cip2a'
| ID |
656054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cip2a
|
| Ensembl Gene |
ENSMUSG00000033031 |
| Gene Name |
cell proliferation regulating inhibitor of protein phosphatase 2A |
| Synonyms |
C330027C09Rik, Cip2a |
| MMRRC Submission |
067945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R8514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
48814548-48840072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48817810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 60
(V60A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048374]
[ENSMUST00000114516]
[ENSMUST00000117994]
[ENSMUST00000121869]
|
| AlphaFold |
Q8BWY9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048374
AA Change: V60A
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000044714
Gene: ENSMUSG00000033031
AA Change: V60A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
47 |
309 |
3e-4 |
SMART |
|
low complexity region
|
439 |
450 |
N/A |
INTRINSIC |
|
coiled coil region
|
635 |
887 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114516
|
| SMART Domains |
Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
|
coiled coil region
|
548 |
568 |
N/A |
INTRINSIC |
|
coiled coil region
|
599 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
891 |
N/A |
INTRINSIC |
|
RING
|
938 |
977 |
2.09e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117994
AA Change: V60A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113075
Gene: ENSMUSG00000033031
AA Change: V60A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jdha_
|
47 |
309 |
2e-4 |
SMART |
|
low complexity region
|
439 |
450 |
N/A |
INTRINSIC |
|
coiled coil region
|
635 |
887 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121869
|
| SMART Domains |
Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
coiled coil region
|
754 |
774 |
N/A |
INTRINSIC |
|
coiled coil region
|
805 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1097 |
N/A |
INTRINSIC |
|
RING
|
1144 |
1183 |
2.09e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele display oligozoospermia, small epididymis and impaired spermatogonial progenitor cell maintenance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
A |
G |
7: 19,492,466 (GRCm39) |
V543A |
probably damaging |
Het |
| Calhm6 |
G |
A |
10: 34,002,399 (GRCm39) |
T228I |
possibly damaging |
Het |
| Capn1 |
T |
C |
19: 6,047,854 (GRCm39) |
E403G |
probably damaging |
Het |
| Casp12 |
T |
C |
9: 5,352,735 (GRCm39) |
F186L |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,121,459 (GRCm39) |
Q13R |
unknown |
Het |
| Ckap2l |
G |
T |
2: 129,127,788 (GRCm39) |
A130E |
possibly damaging |
Het |
| Creld1 |
C |
T |
6: 113,469,830 (GRCm39) |
R411C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,896,199 (GRCm39) |
S167T |
probably benign |
Het |
| Emc10 |
G |
T |
7: 44,142,646 (GRCm39) |
Q99K |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,242,699 (GRCm39) |
I1287L |
probably benign |
Het |
| Gjc3 |
T |
A |
5: 137,955,772 (GRCm39) |
Y171F |
probably damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTG |
1: 88,431,042 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,384,864 (GRCm39) |
V662A |
possibly damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,181 (GRCm39) |
V286A |
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,650 (GRCm39) |
E293G |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,933,166 (GRCm39) |
V847A |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,390,521 (GRCm39) |
C317R |
unknown |
Het |
| Mdn1 |
T |
A |
4: 32,739,857 (GRCm39) |
Y3704N |
probably damaging |
Het |
| Micall2 |
C |
A |
5: 139,701,977 (GRCm39) |
R422L |
probably damaging |
Het |
| Mndal |
T |
C |
1: 173,687,758 (GRCm39) |
D492G |
possibly damaging |
Het |
| Myom2 |
C |
T |
8: 15,175,153 (GRCm39) |
P1244L |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,181 (GRCm39) |
C1025R |
probably damaging |
Het |
| Nthl1 |
G |
A |
17: 24,853,089 (GRCm39) |
V98M |
probably damaging |
Het |
| Or12e10 |
A |
T |
2: 87,641,054 (GRCm39) |
I297F |
probably damaging |
Het |
| Or4a15 |
T |
C |
2: 89,193,573 (GRCm39) |
I67V |
probably benign |
Het |
| Pank3 |
A |
G |
11: 35,667,186 (GRCm39) |
D101G |
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,007,030 (GRCm39) |
R178G |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,618,822 (GRCm39) |
|
probably null |
Het |
| Platr25 |
T |
C |
13: 62,848,586 (GRCm39) |
Y92C |
probably damaging |
Het |
| Plpp1 |
A |
T |
13: 112,971,462 (GRCm39) |
D43V |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,330,396 (GRCm39) |
T759I |
unknown |
Het |
| Pros1 |
A |
G |
16: 62,730,472 (GRCm39) |
T321A |
probably benign |
Het |
| Rad50 |
G |
A |
11: 53,569,766 (GRCm39) |
Q882* |
probably null |
Het |
| Rasa3 |
A |
C |
8: 13,631,322 (GRCm39) |
F533V |
probably benign |
Het |
| Rgs18 |
T |
A |
1: 144,629,765 (GRCm39) |
I165F |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,560,307 (GRCm39) |
V511I |
possibly damaging |
Het |
| Sdc3 |
A |
G |
4: 130,546,072 (GRCm39) |
T144A |
unknown |
Het |
| Slc9a9 |
T |
C |
9: 94,818,418 (GRCm39) |
F271L |
probably benign |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata31e5 |
C |
T |
1: 28,817,586 (GRCm39) |
V149M |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,697,187 (GRCm39) |
D759E |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,284,406 (GRCm39) |
L893P |
probably damaging |
Het |
| Tex101 |
T |
A |
7: 24,367,957 (GRCm39) |
Q167L |
possibly damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,783,438 (GRCm39) |
R970* |
probably null |
Het |
| Trmt1l |
T |
C |
1: 151,329,742 (GRCm39) |
S562P |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,414,554 (GRCm39) |
W44R |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,891,263 (GRCm39) |
E546G |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,712,346 (GRCm39) |
Q563L |
probably benign |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,138 (GRCm39) |
V176I |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 63,993,942 (GRCm39) |
K96R |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,413,992 (GRCm39) |
V817A |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 101,999,219 (GRCm39) |
C3066S |
possibly damaging |
Het |
| Yeats4 |
T |
C |
10: 117,051,660 (GRCm39) |
E199G |
possibly damaging |
Het |
|
| Other mutations in Cip2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Cip2a
|
APN |
16 |
48,822,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00788:Cip2a
|
APN |
16 |
48,829,432 (GRCm39) |
splice site |
probably benign |
|
|
IGL01343:Cip2a
|
APN |
16 |
48,833,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01348:Cip2a
|
APN |
16 |
48,833,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01876:Cip2a
|
APN |
16 |
48,822,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02255:Cip2a
|
APN |
16 |
48,831,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02515:Cip2a
|
APN |
16 |
48,826,096 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03295:Cip2a
|
APN |
16 |
48,814,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Cip2a
|
UTSW |
16 |
48,821,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Cip2a
|
UTSW |
16 |
48,821,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Cip2a
|
UTSW |
16 |
48,837,736 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0612:Cip2a
|
UTSW |
16 |
48,819,402 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1187:Cip2a
|
UTSW |
16 |
48,820,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Cip2a
|
UTSW |
16 |
48,838,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Cip2a
|
UTSW |
16 |
48,837,849 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1715:Cip2a
|
UTSW |
16 |
48,826,082 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2000:Cip2a
|
UTSW |
16 |
48,835,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2002:Cip2a
|
UTSW |
16 |
48,826,214 (GRCm39) |
splice site |
probably benign |
|
|
R2360:Cip2a
|
UTSW |
16 |
48,837,828 (GRCm39) |
nonsense |
probably null |
|
|
R4093:Cip2a
|
UTSW |
16 |
48,821,339 (GRCm39) |
splice site |
probably benign |
|
|
R4292:Cip2a
|
UTSW |
16 |
48,833,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4293:Cip2a
|
UTSW |
16 |
48,833,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4295:Cip2a
|
UTSW |
16 |
48,833,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4726:Cip2a
|
UTSW |
16 |
48,834,433 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4925:Cip2a
|
UTSW |
16 |
48,836,726 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5735:Cip2a
|
UTSW |
16 |
48,837,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5893:Cip2a
|
UTSW |
16 |
48,817,863 (GRCm39) |
missense |
probably benign |
|
|
R6146:Cip2a
|
UTSW |
16 |
48,814,692 (GRCm39) |
nonsense |
probably null |
|
|
R6649:Cip2a
|
UTSW |
16 |
48,837,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Cip2a
|
UTSW |
16 |
48,821,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Cip2a
|
UTSW |
16 |
48,834,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Cip2a
|
UTSW |
16 |
48,826,184 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7365:Cip2a
|
UTSW |
16 |
48,822,016 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7414:Cip2a
|
UTSW |
16 |
48,821,998 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7715:Cip2a
|
UTSW |
16 |
48,834,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7780:Cip2a
|
UTSW |
16 |
48,822,023 (GRCm39) |
nonsense |
probably null |
|
|
R8156:Cip2a
|
UTSW |
16 |
48,817,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Cip2a
|
UTSW |
16 |
48,821,436 (GRCm39) |
nonsense |
probably null |
|
|
R8701:Cip2a
|
UTSW |
16 |
48,827,504 (GRCm39) |
nonsense |
probably null |
|
|
R9077:Cip2a
|
UTSW |
16 |
48,827,511 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9326:Cip2a
|
UTSW |
16 |
48,834,235 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9575:Cip2a
|
UTSW |
16 |
48,838,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCTAAACTGGGAAAGAAAGGGC -3'
(R):5'- ATGGCAGAATCCTTGACCC -3'
Sequencing Primer
(F):5'- CTGGGAAAGAAAGGGCTAAGTAG -3'
(R):5'- CAATTTGTCTGTAGGAACTTTGAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation