Incidental Mutation 'R1895:Pakap'
| ID |
209719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pakap
|
| Ensembl Gene |
ENSMUSG00000089945 |
| Gene Name |
paralemmin A kinase anchor protein |
| Synonyms |
Palm2-Akap2, Akap2, AKAP-KL, Palm2Akap2, Gm20459, AF064781, B230340M18Rik, 53-H12, pEN70, Palm2 |
| MMRRC Submission |
039915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R1895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57638068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 35
(V35A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098066]
[ENSMUST00000102904]
[ENSMUST00000102905]
[ENSMUST00000126465]
[ENSMUST00000142556]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098066
AA Change: V35A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945
AA Change: V35A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102904
AA Change: V35A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099968
Gene: ENSMUSG00000090053
AA Change: V35A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102905
AA Change: V35A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099969
Gene: ENSMUSG00000090053
AA Change: V35A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
67 |
376 |
5.8e-109 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126465
AA Change: V35A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945
AA Change: V35A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131201
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142556
AA Change: V35A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000129817
Gene: ENSMUSG00000090053
AA Change: V35A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
66 |
136 |
8.7e-11 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150412
AA Change: V82A
|
| SMART Domains |
Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: V82A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
59 |
N/A |
INTRINSIC |
|
Pfam:Paralemmin
|
115 |
269 |
6.5e-23 |
PFAM |
|
low complexity region
|
396 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
coiled coil region
|
499 |
557 |
N/A |
INTRINSIC |
|
Pfam:AKAP2_C
|
847 |
1129 |
1.9e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.2%
- 10x: 93.2%
- 20x: 86.6%
|
| Validation Efficiency |
96% (100/104) |
| MGI Phenotype |
FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Palm2 (paralemmin 2) and Akap2 (A kinase (PRKA) anchor protein 2) genes on chromosome 4. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Similar readthrough transcription has also been observed in human, as described in PMID: 11478809. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,039,551 (GRCm39) |
S253P |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,412,314 (GRCm39) |
D431G |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,522,368 (GRCm39) |
C5923Y |
probably damaging |
Het |
| Akr1b10 |
T |
A |
6: 34,365,805 (GRCm39) |
I110N |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,394,378 (GRCm39) |
|
probably null |
Het |
| Arhgef12 |
G |
T |
9: 42,917,152 (GRCm39) |
Q396K |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,059,443 (GRCm39) |
T56A |
probably null |
Het |
| Atoh1 |
T |
C |
6: 64,706,443 (GRCm39) |
V46A |
probably benign |
Het |
| AU015836 |
T |
C |
X: 93,012,985 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,657,520 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cdh8 |
T |
C |
8: 100,006,189 (GRCm39) |
T133A |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,399 (GRCm39) |
T1686A |
possibly damaging |
Het |
| Col4a3 |
A |
T |
1: 82,656,829 (GRCm39) |
K749N |
unknown |
Het |
| Col6a3 |
T |
A |
1: 90,731,433 (GRCm39) |
M1000L |
probably benign |
Het |
| Coq8b |
G |
A |
7: 26,939,299 (GRCm39) |
V150I |
possibly damaging |
Het |
| Dmxl1 |
G |
T |
18: 50,088,981 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,835,494 (GRCm39) |
D990G |
probably benign |
Het |
| Dpp7 |
G |
T |
2: 25,243,691 (GRCm39) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 78,973,677 (GRCm39) |
N364S |
possibly damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,476,902 (GRCm39) |
D718G |
possibly damaging |
Het |
| F930017D23Rik |
G |
A |
10: 43,469,440 (GRCm39) |
|
noncoding transcript |
Het |
| Fam20a |
T |
C |
11: 109,564,380 (GRCm39) |
K458E |
probably benign |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fut2 |
A |
G |
7: 45,300,748 (GRCm39) |
F8S |
probably damaging |
Het |
| Gad2 |
A |
T |
2: 22,575,440 (GRCm39) |
T515S |
probably benign |
Het |
| Glmn |
T |
C |
5: 107,718,110 (GRCm39) |
D269G |
probably benign |
Het |
| Gpatch4 |
A |
G |
3: 87,959,409 (GRCm39) |
Y106C |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,562,123 (GRCm39) |
W576R |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,694,767 (GRCm39) |
D701G |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,591,860 (GRCm39) |
I687K |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,295,647 (GRCm39) |
S2619P |
probably damaging |
Het |
| Ilf3 |
T |
A |
9: 21,316,063 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,704,340 (GRCm39) |
V272E |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,009 (GRCm39) |
K123E |
probably benign |
Het |
| Kif11 |
G |
A |
19: 37,375,847 (GRCm39) |
R220K |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,152 (GRCm39) |
V1986E |
probably benign |
Het |
| Lrp11 |
T |
C |
10: 7,499,540 (GRCm39) |
Y244H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,555,159 (GRCm39) |
D320V |
unknown |
Het |
| Map4k5 |
A |
T |
12: 69,892,529 (GRCm39) |
D133E |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,586,558 (GRCm39) |
D461V |
probably damaging |
Het |
| Muc5b |
A |
C |
7: 141,411,382 (GRCm39) |
T1443P |
unknown |
Het |
| Mxi1 |
G |
A |
19: 53,358,775 (GRCm39) |
R236H |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,386,396 (GRCm39) |
W1211R |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,901,097 (GRCm39) |
N896K |
possibly damaging |
Het |
| Nmt2 |
T |
A |
2: 3,323,672 (GRCm39) |
I355N |
probably benign |
Het |
| Nxpe5 |
T |
C |
5: 138,249,785 (GRCm39) |
V525A |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,993,648 (GRCm39) |
T287S |
probably benign |
Het |
| Or1n1b |
A |
T |
2: 36,780,458 (GRCm39) |
M134K |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,487 (GRCm39) |
S167P |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 139,742,726 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,758 (GRCm39) |
I28N |
probably damaging |
Het |
| Or8b3 |
T |
A |
9: 38,314,182 (GRCm39) |
M1K |
probably null |
Het |
| Panx1 |
A |
G |
9: 14,918,822 (GRCm39) |
C346R |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,744,209 (GRCm39) |
E764G |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,415,652 (GRCm39) |
|
probably null |
Het |
| Plod2 |
A |
G |
9: 92,489,188 (GRCm39) |
S707G |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,088,435 (GRCm39) |
V77E |
probably benign |
Het |
| Prob1 |
T |
A |
18: 35,785,942 (GRCm39) |
T771S |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,681,768 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,285,885 (GRCm39) |
I110V |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,043 (GRCm39) |
H667L |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,623,810 (GRCm39) |
Q573R |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,452,337 (GRCm39) |
V305D |
probably damaging |
Het |
| Slc11a2 |
G |
A |
15: 100,301,775 (GRCm39) |
R249C |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,152,912 (GRCm39) |
I276V |
possibly damaging |
Het |
| Snx19 |
T |
A |
9: 30,343,620 (GRCm39) |
N593K |
probably damaging |
Het |
| Ssh2 |
C |
G |
11: 77,340,571 (GRCm39) |
D574E |
probably damaging |
Het |
| Stil |
T |
C |
4: 114,881,072 (GRCm39) |
S539P |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,141 (GRCm39) |
K71R |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,385,015 (GRCm39) |
H524L |
probably damaging |
Het |
| Tex30 |
C |
T |
1: 44,130,564 (GRCm39) |
G68D |
probably damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,226,500 (GRCm39) |
Y138C |
probably damaging |
Het |
| Tmem43 |
A |
T |
6: 91,463,891 (GRCm39) |
I389F |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,873,556 (GRCm39) |
N488Y |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,031,558 (GRCm39) |
L950Q |
probably damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,299,885 (GRCm39) |
I246V |
probably benign |
Het |
| Vmn1r188 |
T |
G |
13: 22,272,815 (GRCm39) |
S256R |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,231,133 (GRCm39) |
E487K |
probably damaging |
Het |
|
| Other mutations in Pakap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Pakap
|
APN |
4 |
57,757,627 (GRCm39) |
nonsense |
probably null |
|
|
IGL01371:Pakap
|
APN |
4 |
57,856,325 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01647:Pakap
|
APN |
4 |
57,688,477 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01733:Pakap
|
APN |
4 |
57,856,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02677:Pakap
|
APN |
4 |
57,856,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02696:Pakap
|
APN |
4 |
57,854,663 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02736:Pakap
|
APN |
4 |
57,709,721 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03067:Pakap
|
APN |
4 |
57,648,038 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03343:Pakap
|
APN |
4 |
57,688,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
A9681:Pakap
|
UTSW |
4 |
57,855,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Pakap
|
UTSW |
4 |
57,883,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Pakap
|
UTSW |
4 |
57,638,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0158:Pakap
|
UTSW |
4 |
57,709,649 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0244:Pakap
|
UTSW |
4 |
57,710,177 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0284:Pakap
|
UTSW |
4 |
57,855,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:Pakap
|
UTSW |
4 |
57,855,628 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0594:Pakap
|
UTSW |
4 |
57,856,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0614:Pakap
|
UTSW |
4 |
57,856,720 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0617:Pakap
|
UTSW |
4 |
57,829,434 (GRCm39) |
intron |
probably benign |
|
|
R0763:Pakap
|
UTSW |
4 |
57,688,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0800:Pakap
|
UTSW |
4 |
57,709,650 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1228:Pakap
|
UTSW |
4 |
57,856,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Pakap
|
UTSW |
4 |
57,709,468 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1913:Pakap
|
UTSW |
4 |
57,892,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2081:Pakap
|
UTSW |
4 |
57,855,927 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2128:Pakap
|
UTSW |
4 |
57,854,890 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2339:Pakap
|
UTSW |
4 |
57,883,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Pakap
|
UTSW |
4 |
57,709,954 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4667:Pakap
|
UTSW |
4 |
57,855,655 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4804:Pakap
|
UTSW |
4 |
57,854,688 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4989:Pakap
|
UTSW |
4 |
57,856,552 (GRCm39) |
missense |
probably benign |
|
|
R5135:Pakap
|
UTSW |
4 |
57,855,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5292:Pakap
|
UTSW |
4 |
57,855,356 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5420:Pakap
|
UTSW |
4 |
57,856,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Pakap
|
UTSW |
4 |
57,856,062 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5442:Pakap
|
UTSW |
4 |
57,637,876 (GRCm39) |
missense |
probably null |
|
|
R5517:Pakap
|
UTSW |
4 |
57,855,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5648:Pakap
|
UTSW |
4 |
57,854,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Pakap
|
UTSW |
4 |
57,856,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5993:Pakap
|
UTSW |
4 |
57,855,273 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6133:Pakap
|
UTSW |
4 |
57,855,516 (GRCm39) |
nonsense |
probably null |
|
|
R6189:Pakap
|
UTSW |
4 |
57,855,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6221:Pakap
|
UTSW |
4 |
57,855,618 (GRCm39) |
nonsense |
probably null |
|
|
R6320:Pakap
|
UTSW |
4 |
57,710,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Pakap
|
UTSW |
4 |
57,709,675 (GRCm39) |
nonsense |
probably null |
|
|
R6532:Pakap
|
UTSW |
4 |
57,855,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6760:Pakap
|
UTSW |
4 |
57,856,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Pakap
|
UTSW |
4 |
57,855,880 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6983:Pakap
|
UTSW |
4 |
57,709,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Pakap
|
UTSW |
4 |
57,648,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7128:Pakap
|
UTSW |
4 |
57,855,816 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7269:Pakap
|
UTSW |
4 |
57,855,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Pakap
|
UTSW |
4 |
57,709,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Pakap
|
UTSW |
4 |
57,709,519 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7837:Pakap
|
UTSW |
4 |
57,855,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7940:Pakap
|
UTSW |
4 |
57,883,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7946:Pakap
|
UTSW |
4 |
57,710,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Pakap
|
UTSW |
4 |
57,886,319 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8275:Pakap
|
UTSW |
4 |
57,886,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8702:Pakap
|
UTSW |
4 |
57,709,489 (GRCm39) |
nonsense |
probably null |
|
|
R8836:Pakap
|
UTSW |
4 |
57,709,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9010:Pakap
|
UTSW |
4 |
57,883,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Pakap
|
UTSW |
4 |
57,637,857 (GRCm39) |
missense |
unknown |
|
|
R9060:Pakap
|
UTSW |
4 |
57,855,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Pakap
|
UTSW |
4 |
57,709,595 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9652:Pakap
|
UTSW |
4 |
57,710,125 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
X0065:Pakap
|
UTSW |
4 |
57,709,805 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Pakap
|
UTSW |
4 |
57,856,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTCCTGGAGCCAACACC -3'
(R):5'- TGCTCGTAGAAAGCAGGATG -3'
Sequencing Primer
(F):5'- CCACCCACTCTGACAGCCTC -3'
(R):5'- CAGGATGCTGTTAACGGTGCC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation