Incidental Mutation 'R9054:Ctnna2'
| ID |
688560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctnna2
|
| Ensembl Gene |
ENSMUSG00000063063 |
| Gene Name |
catenin alpha 2 |
| Synonyms |
Catna, catenin (cadherin associated protein), alpha 2, chp, Catna2, alpha N-catenin, alpha(N)-catenin |
| MMRRC Submission |
068880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R9054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
76858620-77956682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76919249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 663
(R663Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075340]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161846]
[ENSMUST00000204527]
|
| AlphaFold |
Q61301 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075340
AA Change: R650Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: R650Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
337 |
2e-104 |
PFAM |
|
Pfam:Vinculin
|
331 |
866 |
7.7e-222 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159626
AA Change: R650Q
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: R650Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
337 |
3.4e-105 |
PFAM |
|
Pfam:Vinculin
|
330 |
914 |
6.6e-214 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160894
AA Change: R663Q
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: R663Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
31 |
352 |
2.1e-104 |
PFAM |
|
Pfam:Vinculin
|
343 |
927 |
4.6e-213 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161846
AA Change: R663Q
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: R663Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
31 |
350 |
5.3e-105 |
PFAM |
|
Pfam:Vinculin
|
344 |
879 |
2.1e-222 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204527
|
| SMART Domains |
Protein: ENSMUSP00000144890
Gene: ENSMUSG00000063063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
2 |
232 |
2.9e-94 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
PHENOTYPE: Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankef1 |
T |
A |
2: 136,395,594 (GRCm39) |
D641E |
probably benign |
Het |
| Anln |
A |
G |
9: 22,272,116 (GRCm39) |
|
probably null |
Het |
| Areg |
A |
T |
5: 91,292,217 (GRCm39) |
E172D |
probably damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,918,482 (GRCm39) |
T24S |
probably benign |
Het |
| Cckar |
A |
T |
5: 53,860,424 (GRCm39) |
I135N |
probably damaging |
Het |
| Cdca7 |
CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA |
CGAGGAAGAGGAGGAGGAAGAGGA |
2: 72,313,821 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,235,551 (GRCm39) |
H2056R |
possibly damaging |
Het |
| Chrnb2 |
T |
C |
3: 89,664,562 (GRCm39) |
K451E |
probably damaging |
Het |
| Cyp4f37 |
A |
T |
17: 32,853,253 (GRCm39) |
I406F |
probably benign |
Het |
| Eml4 |
T |
A |
17: 83,734,640 (GRCm39) |
|
probably benign |
Het |
| Fkrp |
G |
T |
7: 16,544,569 (GRCm39) |
T431K |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,806,180 (GRCm39) |
Y833F |
possibly damaging |
Het |
| Galnt2 |
T |
C |
8: 125,058,837 (GRCm39) |
|
probably null |
Het |
| Gm8180 |
T |
A |
14: 44,019,806 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
T |
C |
13: 118,108,171 (GRCm39) |
S552P |
unknown |
Het |
| Ifit1 |
A |
C |
19: 34,625,887 (GRCm39) |
E341A |
possibly damaging |
Het |
| Iyd |
A |
G |
10: 3,490,250 (GRCm39) |
|
probably benign |
Het |
| Krt72 |
A |
T |
15: 101,694,836 (GRCm39) |
S20T |
probably damaging |
Het |
| Lemd2 |
G |
T |
17: 27,423,069 (GRCm39) |
D108E |
probably benign |
Het |
| Lipn |
A |
T |
19: 34,054,376 (GRCm39) |
I205F |
possibly damaging |
Het |
| Nat1 |
G |
T |
8: 67,943,723 (GRCm39) |
R36L |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,415,907 (GRCm39) |
M334K |
possibly damaging |
Het |
| Nectin4 |
A |
T |
1: 171,214,351 (GRCm39) |
N502I |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,214,389 (GRCm39) |
V626I |
probably benign |
Het |
| Oprm1 |
G |
A |
10: 6,773,914 (GRCm39) |
|
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,017,680 (GRCm39) |
Y49C |
probably damaging |
Het |
| Or8a1b |
C |
T |
9: 37,623,204 (GRCm39) |
V124M |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,156,927 (GRCm39) |
Y637C |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,071,924 (GRCm39) |
V306A |
probably damaging |
Het |
| Pdzd9 |
G |
A |
7: 120,269,498 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,947,017 (GRCm39) |
D810V |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,392,304 (GRCm39) |
H1966L |
probably benign |
Het |
| Pmfbp1 |
C |
T |
8: 110,247,661 (GRCm39) |
T319I |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,692,314 (GRCm39) |
Q229R |
probably benign |
Het |
| Prb1c |
G |
C |
6: 132,338,856 (GRCm39) |
Q121E |
unknown |
Het |
| Psg18 |
T |
A |
7: 18,087,450 (GRCm39) |
R69S |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,213,638 (GRCm38) |
Q1002L |
possibly damaging |
Het |
| Ptprj |
T |
C |
2: 90,290,984 (GRCm39) |
Y585C |
probably damaging |
Het |
| Rad51c |
T |
C |
11: 87,293,542 (GRCm39) |
T105A |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,937,481 (GRCm39) |
D930E |
unknown |
Het |
| Rlf |
A |
C |
4: 121,007,784 (GRCm39) |
S509A |
possibly damaging |
Het |
| Slc39a3 |
C |
A |
10: 80,869,499 (GRCm39) |
G53C |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,670,017 (GRCm39) |
Q1685* |
probably null |
Het |
| Sprr2d |
A |
C |
3: 92,247,715 (GRCm39) |
E52A |
unknown |
Het |
| Stat1 |
A |
G |
1: 52,182,086 (GRCm39) |
N355S |
probably damaging |
Het |
| Tmem30b |
T |
C |
12: 73,592,923 (GRCm39) |
E64G |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,869,392 (GRCm39) |
V82D |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,570,977 (GRCm39) |
T26639S |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,727,725 (GRCm39) |
N952K |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,724 (GRCm39) |
H339Q |
possibly damaging |
Het |
| Vps13b |
G |
A |
15: 35,422,537 (GRCm39) |
D166N |
probably damaging |
Het |
| Zfp954 |
C |
A |
7: 7,119,097 (GRCm39) |
C149F |
probably benign |
Het |
|
| Other mutations in Ctnna2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Ctnna2
|
APN |
6 |
76,957,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00573:Ctnna2
|
APN |
6 |
76,879,264 (GRCm39) |
intron |
probably benign |
|
|
IGL01290:Ctnna2
|
APN |
6 |
76,859,543 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01719:Ctnna2
|
APN |
6 |
77,613,958 (GRCm39) |
nonsense |
probably null |
|
|
IGL01725:Ctnna2
|
APN |
6 |
77,618,348 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02381:Ctnna2
|
APN |
6 |
76,931,766 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02561:Ctnna2
|
APN |
6 |
77,822,563 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02653:Ctnna2
|
APN |
6 |
76,957,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02658:Ctnna2
|
APN |
6 |
76,957,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02721:Ctnna2
|
APN |
6 |
76,958,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03075:Ctnna2
|
APN |
6 |
76,931,713 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03291:Ctnna2
|
APN |
6 |
76,950,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Ctnna2
|
UTSW |
6 |
77,618,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0423:Ctnna2
|
UTSW |
6 |
77,630,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Ctnna2
|
UTSW |
6 |
76,950,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Ctnna2
|
UTSW |
6 |
76,879,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0545:Ctnna2
|
UTSW |
6 |
77,582,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Ctnna2
|
UTSW |
6 |
76,892,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0582:Ctnna2
|
UTSW |
6 |
77,735,400 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0607:Ctnna2
|
UTSW |
6 |
76,879,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1318:Ctnna2
|
UTSW |
6 |
76,859,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Ctnna2
|
UTSW |
6 |
77,613,732 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1838:Ctnna2
|
UTSW |
6 |
77,822,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1924:Ctnna2
|
UTSW |
6 |
76,931,830 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1969:Ctnna2
|
UTSW |
6 |
77,735,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2011:Ctnna2
|
UTSW |
6 |
76,950,774 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2867:Ctnna2
|
UTSW |
6 |
77,091,905 (GRCm39) |
splice site |
probably benign |
|
|
R3103:Ctnna2
|
UTSW |
6 |
77,630,127 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3772:Ctnna2
|
UTSW |
6 |
76,950,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3809:Ctnna2
|
UTSW |
6 |
76,931,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4023:Ctnna2
|
UTSW |
6 |
77,613,827 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4024:Ctnna2
|
UTSW |
6 |
77,613,827 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4025:Ctnna2
|
UTSW |
6 |
77,613,827 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4026:Ctnna2
|
UTSW |
6 |
77,613,827 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4288:Ctnna2
|
UTSW |
6 |
77,582,204 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4291:Ctnna2
|
UTSW |
6 |
76,859,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4493:Ctnna2
|
UTSW |
6 |
76,958,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4561:Ctnna2
|
UTSW |
6 |
77,613,696 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4824:Ctnna2
|
UTSW |
6 |
76,957,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Ctnna2
|
UTSW |
6 |
77,630,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Ctnna2
|
UTSW |
6 |
76,892,745 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5041:Ctnna2
|
UTSW |
6 |
76,892,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Ctnna2
|
UTSW |
6 |
77,091,912 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5411:Ctnna2
|
UTSW |
6 |
77,091,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Ctnna2
|
UTSW |
6 |
76,950,820 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5874:Ctnna2
|
UTSW |
6 |
76,879,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5935:Ctnna2
|
UTSW |
6 |
77,120,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6008:Ctnna2
|
UTSW |
6 |
76,892,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6115:Ctnna2
|
UTSW |
6 |
77,613,822 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6369:Ctnna2
|
UTSW |
6 |
76,957,678 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6490:Ctnna2
|
UTSW |
6 |
77,120,892 (GRCm39) |
missense |
probably benign |
|
|
R7021:Ctnna2
|
UTSW |
6 |
77,613,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7152:Ctnna2
|
UTSW |
6 |
76,957,807 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7662:Ctnna2
|
UTSW |
6 |
77,613,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7804:Ctnna2
|
UTSW |
6 |
77,618,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7935:Ctnna2
|
UTSW |
6 |
76,919,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8479:Ctnna2
|
UTSW |
6 |
77,735,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Ctnna2
|
UTSW |
6 |
77,630,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8829:Ctnna2
|
UTSW |
6 |
77,582,205 (GRCm39) |
nonsense |
probably null |
|
|
R9142:Ctnna2
|
UTSW |
6 |
76,879,423 (GRCm39) |
intron |
probably benign |
|
|
R9173:Ctnna2
|
UTSW |
6 |
76,896,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Ctnna2
|
UTSW |
6 |
77,582,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Ctnna2
|
UTSW |
6 |
77,618,400 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ctnna2
|
UTSW |
6 |
76,957,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ctnna2
|
UTSW |
6 |
76,950,764 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Ctnna2
|
UTSW |
6 |
77,735,537 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCATTGAAGCAGACGAC -3'
(R):5'- AATTGGGGCAGTATGGTTCC -3'
Sequencing Primer
(F):5'- GTAATAGCCCAGACCAGTAAAGG -3'
(R):5'- GAAGTTGATTCCAATAAAGGTAGCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation