Incidental Mutation 'R7864:Cpa5'
| ID |
607712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpa5
|
| Ensembl Gene |
ENSMUSG00000029788 |
| Gene Name |
carboxypeptidase A5 |
| Synonyms |
4930430M09Rik |
| MMRRC Submission |
045917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30611009-30631744 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30631394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 436
(Y436F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062758]
[ENSMUST00000115138]
[ENSMUST00000115139]
[ENSMUST00000165949]
|
| AlphaFold |
Q8R4H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062758
AA Change: Y436F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: Y436F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
43 |
117 |
5.6e-23 |
PFAM |
|
Zn_pept
|
139 |
419 |
4.83e-125 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115138
|
| SMART Domains |
Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
43 |
118 |
9.9e-26 |
PFAM |
|
Zn_pept
|
139 |
395 |
4.62e-81 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115139
AA Change: Y436F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: Y436F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
43 |
118 |
4.6e-25 |
PFAM |
|
Zn_pept
|
139 |
419 |
4.83e-125 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165949
|
| SMART Domains |
Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Propep_M14
|
43 |
118 |
6.4e-26 |
PFAM |
|
Zn_pept
|
139 |
309 |
3.6e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is expressed in mouse testes where the encoded protein is localized to the germ cells. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
C |
T |
12: 84,034,796 (GRCm39) |
R41W |
probably benign |
Het |
| Adam32 |
T |
A |
8: 25,412,292 (GRCm39) |
H88L |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,577,976 (GRCm39) |
T238A |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,392,530 (GRCm39) |
L1967P |
probably damaging |
Het |
| Bbx |
G |
T |
16: 50,082,797 (GRCm39) |
H216Q |
probably damaging |
Het |
| C030005K15Rik |
G |
A |
10: 97,561,614 (GRCm39) |
T39M |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,602,246 (GRCm39) |
V655A |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,414,906 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ces1f |
G |
A |
8: 94,000,769 (GRCm39) |
A125V |
possibly damaging |
Het |
| Chaf1a |
C |
T |
17: 56,354,339 (GRCm39) |
T203I |
unknown |
Het |
| Cntn5 |
A |
G |
9: 9,984,182 (GRCm39) |
S144P |
probably damaging |
Het |
| Dbf4 |
A |
T |
5: 8,460,010 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,140,864 (GRCm39) |
D1360V |
possibly damaging |
Het |
| Ecm1 |
A |
T |
3: 95,641,689 (GRCm39) |
I515N |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,548,073 (GRCm39) |
C75* |
probably null |
Het |
| Foxa1 |
A |
T |
12: 57,589,533 (GRCm39) |
V229D |
probably damaging |
Het |
| Gga1 |
T |
C |
15: 78,772,444 (GRCm39) |
M248T |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,980,619 (GRCm39) |
Q573R |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,312,290 (GRCm39) |
H1510P |
probably benign |
Het |
| Htr1f |
A |
C |
16: 64,747,157 (GRCm39) |
I45S |
probably damaging |
Het |
| Itsn1 |
T |
C |
16: 91,598,454 (GRCm39) |
V129A |
possibly damaging |
Het |
| Klrg2 |
G |
T |
6: 38,605,024 (GRCm39) |
Q347K |
possibly damaging |
Het |
| Lama2 |
G |
A |
10: 26,932,611 (GRCm39) |
T1996I |
probably benign |
Het |
| Man1a |
C |
A |
10: 53,906,843 (GRCm39) |
L219F |
possibly damaging |
Het |
| Mcub |
A |
G |
3: 129,712,272 (GRCm39) |
I201T |
probably damaging |
Het |
| Or10q1 |
A |
G |
19: 13,726,710 (GRCm39) |
D80G |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,705,428 (GRCm39) |
L633P |
probably damaging |
Het |
| Pate9 |
A |
T |
9: 36,445,747 (GRCm39) |
F68Y |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,497,762 (GRCm39) |
L429* |
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,389,449 (GRCm39) |
|
probably null |
Het |
| Pld4 |
C |
A |
12: 112,731,557 (GRCm39) |
Q237K |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,357 (GRCm39) |
E897G |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,169,656 (GRCm39) |
F475L |
probably benign |
Het |
| Popdc3 |
G |
A |
10: 45,191,278 (GRCm39) |
A130T |
probably benign |
Het |
| Prss54 |
T |
C |
8: 96,286,297 (GRCm39) |
K259E |
probably benign |
Het |
| Psg23 |
T |
G |
7: 18,344,435 (GRCm39) |
N340T |
possibly damaging |
Het |
| Rab1a |
G |
T |
11: 20,165,673 (GRCm39) |
G23* |
probably null |
Het |
| Rgs9 |
A |
T |
11: 109,166,446 (GRCm39) |
F108Y |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,314,904 (GRCm39) |
T1605S |
possibly damaging |
Het |
| Sh2d4b |
G |
A |
14: 40,562,208 (GRCm39) |
T319I |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,726,217 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
A |
T |
17: 27,189,502 (GRCm39) |
Q1286L |
|
Het |
| Tmem132d |
G |
A |
5: 127,860,980 (GRCm39) |
T1047I |
probably damaging |
Het |
| Togaram2 |
G |
A |
17: 72,007,935 (GRCm39) |
R420H |
probably damaging |
Het |
| Uimc1 |
G |
A |
13: 55,241,080 (GRCm39) |
R3* |
probably null |
Het |
| Vmn2r7 |
C |
T |
3: 64,598,947 (GRCm39) |
V537I |
probably benign |
Het |
| Wwp1 |
T |
A |
4: 19,635,328 (GRCm39) |
K584N |
probably damaging |
Het |
| Zc3h12d |
A |
T |
10: 7,715,723 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,769,569 (GRCm39) |
V220E |
probably benign |
Het |
| Zfp91 |
A |
G |
19: 12,748,403 (GRCm39) |
V391A |
probably damaging |
Het |
|
| Other mutations in Cpa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01757:Cpa5
|
APN |
6 |
30,625,926 (GRCm39) |
splice site |
probably benign |
|
|
IGL02577:Cpa5
|
APN |
6 |
30,626,807 (GRCm39) |
splice site |
probably benign |
|
|
IGL03148:Cpa5
|
APN |
6 |
30,630,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03341:Cpa5
|
APN |
6 |
30,626,290 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0836:Cpa5
|
UTSW |
6 |
30,623,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Cpa5
|
UTSW |
6 |
30,624,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Cpa5
|
UTSW |
6 |
30,626,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2285:Cpa5
|
UTSW |
6 |
30,615,063 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2334:Cpa5
|
UTSW |
6 |
30,624,605 (GRCm39) |
nonsense |
probably null |
|
|
R4081:Cpa5
|
UTSW |
6 |
30,631,228 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4454:Cpa5
|
UTSW |
6 |
30,626,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4483:Cpa5
|
UTSW |
6 |
30,624,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cpa5
|
UTSW |
6 |
30,615,159 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4771:Cpa5
|
UTSW |
6 |
30,612,684 (GRCm39) |
nonsense |
probably null |
|
|
R4953:Cpa5
|
UTSW |
6 |
30,631,363 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5053:Cpa5
|
UTSW |
6 |
30,623,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5392:Cpa5
|
UTSW |
6 |
30,630,829 (GRCm39) |
nonsense |
probably null |
|
|
R5593:Cpa5
|
UTSW |
6 |
30,630,848 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5745:Cpa5
|
UTSW |
6 |
30,630,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5900:Cpa5
|
UTSW |
6 |
30,615,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Cpa5
|
UTSW |
6 |
30,613,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Cpa5
|
UTSW |
6 |
30,615,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Cpa5
|
UTSW |
6 |
30,614,044 (GRCm39) |
missense |
probably benign |
|
|
R6634:Cpa5
|
UTSW |
6 |
30,626,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6814:Cpa5
|
UTSW |
6 |
30,614,053 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6872:Cpa5
|
UTSW |
6 |
30,614,053 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6989:Cpa5
|
UTSW |
6 |
30,625,891 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7205:Cpa5
|
UTSW |
6 |
30,630,829 (GRCm39) |
missense |
probably benign |
|
|
R7499:Cpa5
|
UTSW |
6 |
30,630,856 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8170:Cpa5
|
UTSW |
6 |
30,624,594 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9027:Cpa5
|
UTSW |
6 |
30,612,604 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R9395:Cpa5
|
UTSW |
6 |
30,631,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Cpa5
|
UTSW |
6 |
30,626,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9687:Cpa5
|
UTSW |
6 |
30,614,041 (GRCm39) |
missense |
probably benign |
|
|
R9794:Cpa5
|
UTSW |
6 |
30,625,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCAGCCAGTGGGATCTCG -3'
(R):5'- GGGCCTCATATTTTCCCGAAG -3'
Sequencing Primer
(F):5'- CAGTGGGATCTCGGTGGAC -3'
(R):5'- TCCCAGACATGAGGGGATGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation