Incidental Mutation 'R6814:Cpa5'
| ID |
534004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpa5
|
| Ensembl Gene |
ENSMUSG00000029788 |
| Gene Name |
carboxypeptidase A5 |
| Synonyms |
4930430M09Rik |
| MMRRC Submission |
044926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R6814 (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 30614053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 65
(Q65L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062758]
[ENSMUST00000115138]
[ENSMUST00000115139]
[ENSMUST00000165949]
|
| AlphaFold |
Q8R4H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062758
AA Change: Q65L
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: Q65L
| 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
AA Change: Q65L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: Q65L
| 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 benign
Transcript: ENSMUST00000115139
AA Change: Q65L
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: Q65L
| 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
AA Change: Q65L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: Q65L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,349,750 (GRCm39) |
V336I |
probably benign |
Het |
| Aadacl4fm4 |
A |
T |
4: 144,397,216 (GRCm39) |
L172* |
probably null |
Het |
| Abca7 |
G |
A |
10: 79,838,833 (GRCm39) |
V669I |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,083,860 (GRCm39) |
T637A |
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,866,812 (GRCm39) |
V749E |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,470,767 (GRCm39) |
L1666S |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,858,877 (GRCm39) |
N284D |
possibly damaging |
Het |
| Ccdc196 |
T |
A |
12: 78,244,141 (GRCm39) |
D31E |
probably damaging |
Het |
| Ccdc24 |
T |
C |
4: 117,727,123 (GRCm39) |
T196A |
probably benign |
Het |
| Cdc20b |
G |
A |
13: 113,220,509 (GRCm39) |
G463S |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,486,212 (GRCm39) |
R570* |
probably null |
Het |
| Cit |
G |
A |
5: 116,023,022 (GRCm39) |
C283Y |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,797,624 (GRCm39) |
I1363V |
possibly damaging |
Het |
| D2hgdh |
C |
A |
1: 93,763,025 (GRCm39) |
T270N |
possibly damaging |
Het |
| Dnah8 |
G |
T |
17: 30,981,653 (GRCm39) |
L3058F |
probably damaging |
Het |
| Dnajb8 |
A |
G |
6: 88,200,022 (GRCm39) |
N186S |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,862,325 (GRCm39) |
|
probably null |
Het |
| Ear6 |
A |
G |
14: 52,091,885 (GRCm39) |
Y144C |
probably damaging |
Het |
| Fam53a |
T |
C |
5: 33,767,829 (GRCm39) |
Y27C |
probably benign |
Het |
| Fgf2 |
A |
G |
3: 37,458,860 (GRCm39) |
K85E |
probably damaging |
Het |
| Fubp1 |
A |
T |
3: 151,931,783 (GRCm39) |
Q37L |
probably benign |
Het |
| Gabra2 |
G |
T |
5: 71,251,882 (GRCm39) |
P22T |
probably damaging |
Het |
| Gm10401 |
T |
C |
5: 115,236,245 (GRCm39) |
|
probably benign |
Het |
| Iglv3 |
A |
G |
16: 19,060,034 (GRCm39) |
I98T |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,311,709 (GRCm39) |
R922H |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,290,607 (GRCm39) |
T474A |
probably damaging |
Het |
| Pcdhb20 |
A |
C |
18: 37,639,218 (GRCm39) |
E581D |
probably benign |
Het |
| Pidd1 |
G |
T |
7: 141,019,331 (GRCm39) |
T750K |
probably benign |
Het |
| Pigq |
A |
T |
17: 26,150,630 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,358,784 (GRCm39) |
E324G |
probably benign |
Het |
| Slc24a3 |
C |
T |
2: 145,458,630 (GRCm39) |
Q537* |
probably null |
Het |
| Slc34a1 |
T |
C |
13: 24,006,372 (GRCm39) |
I466T |
possibly damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,894,689 (GRCm39) |
V116A |
probably damaging |
Het |
| Taf15 |
T |
A |
11: 83,389,915 (GRCm39) |
N228K |
probably damaging |
Het |
| Tbx19 |
A |
T |
1: 164,975,202 (GRCm39) |
|
probably null |
Het |
| Tgoln1 |
A |
G |
6: 72,592,538 (GRCm39) |
V314A |
possibly damaging |
Het |
| Them4 |
A |
T |
3: 94,231,678 (GRCm39) |
I172F |
probably damaging |
Het |
| Tmc7 |
T |
A |
7: 118,146,846 (GRCm39) |
Y477F |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,840,669 (GRCm39) |
L421P |
probably damaging |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r11 |
T |
G |
5: 109,194,976 (GRCm39) |
R783S |
possibly damaging |
Het |
| Zfp180 |
G |
T |
7: 23,805,306 (GRCm39) |
C575F |
probably damaging |
Het |
| Zfp189 |
A |
T |
4: 49,529,026 (GRCm39) |
N43I |
probably damaging |
Het |
| Zfp36l2 |
A |
G |
17: 84,493,521 (GRCm39) |
|
probably benign |
Het |
| Zfp592 |
T |
C |
7: 80,673,576 (GRCm39) |
V180A |
probably benign |
Het |
| Zfp605 |
C |
T |
5: 110,275,311 (GRCm39) |
P143L |
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,482,505 (GRCm39) |
S1561P |
probably benign |
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 |
|
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 |
|
R7864:Cpa5
|
UTSW |
6 |
30,631,394 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- ATCCCTTCTGTTATGTGCCAGG -3'
(R):5'- GGAATCACAGCTTACAAAGGC -3'
Sequencing Primer
(F):5'- AGGGCTCCTTCACTTCAGTG -3'
(R):5'- TTACAAAGGCCACCCAAATTTATGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation