Incidental Mutation 'R7085:Cntn3'
| ID |
549824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
045179-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7085 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102142362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1002
(S1002P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
| AlphaFold |
Q07409 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032159
AA Change: S1002P
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: S1002P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
1.85e-7 |
SMART |
|
IG
|
129 |
217 |
1.82e-6 |
SMART |
|
IGc2
|
240 |
304 |
6.8e-15 |
SMART |
|
IGc2
|
330 |
393 |
1.74e-12 |
SMART |
|
IGc2
|
422 |
486 |
1.53e-8 |
SMART |
|
IG
|
506 |
595 |
5.2e-11 |
SMART |
|
FN3
|
598 |
684 |
3.4e-13 |
SMART |
|
FN3
|
701 |
787 |
5.36e-2 |
SMART |
|
FN3
|
803 |
888 |
4.63e-6 |
SMART |
|
FN3
|
903 |
983 |
1.07e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203619
AA Change: S1002P
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: S1002P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
1.85e-7 |
SMART |
|
IG
|
129 |
217 |
1.82e-6 |
SMART |
|
IGc2
|
240 |
304 |
6.8e-15 |
SMART |
|
IGc2
|
330 |
393 |
1.74e-12 |
SMART |
|
IGc2
|
422 |
486 |
1.53e-8 |
SMART |
|
IG
|
506 |
595 |
5.2e-11 |
SMART |
|
FN3
|
598 |
684 |
3.4e-13 |
SMART |
|
FN3
|
701 |
787 |
5.36e-2 |
SMART |
|
FN3
|
803 |
888 |
4.63e-6 |
SMART |
|
FN3
|
903 |
983 |
1.07e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (75/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
C |
10: 29,100,476 (GRCm39) |
L283P |
probably damaging |
Het |
| Abhd18 |
T |
C |
3: 40,871,344 (GRCm39) |
M132T |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,881,885 (GRCm39) |
V270A |
possibly damaging |
Het |
| Ankrd34a |
A |
T |
3: 96,505,945 (GRCm39) |
Q383L |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,361,835 (GRCm39) |
D627G |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,680,289 (GRCm39) |
C730S |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,197,768 (GRCm39) |
S4P |
unknown |
Het |
| Blzf1 |
T |
C |
1: 164,129,893 (GRCm39) |
D153G |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,950,318 (GRCm39) |
V516A |
probably benign |
Het |
| C1qa |
T |
C |
4: 136,625,091 (GRCm39) |
T20A |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,349,492 (GRCm39) |
|
probably null |
Het |
| Cfd |
T |
G |
10: 79,728,326 (GRCm39) |
V229G |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,260,027 (GRCm39) |
H64L |
unknown |
Het |
| Cntrl |
T |
A |
2: 35,055,804 (GRCm39) |
C1786S |
probably benign |
Het |
| Cpa1 |
A |
G |
6: 30,643,619 (GRCm39) |
D355G |
probably benign |
Het |
| D130043K22Rik |
T |
C |
13: 25,056,285 (GRCm39) |
V539A |
possibly damaging |
Het |
| Ddx1 |
A |
C |
12: 13,279,356 (GRCm39) |
W428G |
probably damaging |
Het |
| Ddx49 |
G |
A |
8: 70,755,133 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,364,468 (GRCm39) |
V4207E |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,779,086 (GRCm39) |
S288P |
probably damaging |
Het |
| Drap1 |
G |
A |
19: 5,474,815 (GRCm39) |
|
probably benign |
Het |
| Ecm2 |
G |
A |
13: 49,674,378 (GRCm39) |
R266K |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,581,100 (GRCm39) |
L542S |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,293,677 (GRCm39) |
Y282H |
possibly damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,243,200 (GRCm39) |
H20L |
probably damaging |
Het |
| Flot2 |
G |
T |
11: 77,948,900 (GRCm39) |
A292S |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,362,214 (GRCm39) |
I2161V |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,889,647 (GRCm39) |
F587S |
probably damaging |
Het |
| Gm49368 |
A |
G |
7: 127,726,029 (GRCm39) |
D1147G |
unknown |
Het |
| Gprc5b |
A |
T |
7: 118,582,855 (GRCm39) |
M338K |
probably damaging |
Het |
| H1f11-ps |
A |
G |
19: 47,159,101 (GRCm39) |
V158A |
unknown |
Het |
| Hacd3 |
A |
C |
9: 64,905,525 (GRCm39) |
N204K |
probably damaging |
Het |
| Hsd3b9 |
T |
C |
3: 98,357,710 (GRCm39) |
N101D |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,329,962 (GRCm39) |
T4899A |
probably benign |
Het |
| Ido2 |
T |
A |
8: 25,048,212 (GRCm39) |
R49S |
probably benign |
Het |
| Igsf3 |
C |
A |
3: 101,362,805 (GRCm39) |
T942K |
probably benign |
Het |
| Kank4 |
T |
A |
4: 98,668,183 (GRCm39) |
Q88L |
probably benign |
Het |
| Krtap16-1 |
T |
A |
11: 99,877,111 (GRCm39) |
I98F |
possibly damaging |
Het |
| Laptm4a |
T |
C |
12: 8,972,113 (GRCm39) |
V52A |
probably benign |
Het |
| Lmbr1 |
A |
T |
5: 29,566,090 (GRCm39) |
|
probably null |
Het |
| Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
| Mafa |
G |
T |
15: 75,619,536 (GRCm39) |
A79E |
unknown |
Het |
| Me2 |
A |
T |
18: 73,914,129 (GRCm39) |
N467K |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,746,019 (GRCm39) |
L8Q |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,556,145 (GRCm39) |
I3383F |
unknown |
Het |
| Nbas |
G |
T |
12: 13,335,259 (GRCm39) |
S151I |
probably damaging |
Het |
| Or10ag60 |
T |
A |
2: 87,437,750 (GRCm39) |
I6N |
probably benign |
Het |
| Or10d5j |
C |
A |
9: 39,867,808 (GRCm39) |
C141F |
probably damaging |
Het |
| Or13c25 |
C |
T |
4: 52,910,961 (GRCm39) |
A278T |
probably benign |
Het |
| Or6k6 |
T |
A |
1: 173,945,226 (GRCm39) |
I119F |
probably damaging |
Het |
| Or7d11 |
G |
A |
9: 19,966,232 (GRCm39) |
H58Y |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,217,633 (GRCm39) |
V1305A |
|
Het |
| Plcb3 |
T |
C |
19: 6,937,501 (GRCm39) |
E639G |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,634,706 (GRCm39) |
L658P |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,571,391 (GRCm39) |
Q658L |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,168,812 (GRCm39) |
R269S |
possibly damaging |
Het |
| Reln |
C |
A |
5: 22,120,085 (GRCm39) |
G2856* |
probably null |
Het |
| Rsph10b |
A |
T |
5: 143,886,102 (GRCm39) |
T267S |
possibly damaging |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,050 (GRCm39) |
I161V |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sbno1 |
G |
A |
5: 124,519,783 (GRCm39) |
P1165L |
possibly damaging |
Het |
| Scn3b |
T |
C |
9: 40,188,394 (GRCm39) |
V29A |
probably damaging |
Het |
| Sh3d21 |
T |
A |
4: 126,056,884 (GRCm39) |
T13S |
probably benign |
Het |
| Shisal2b |
G |
T |
13: 104,994,814 (GRCm39) |
T111K |
probably benign |
Het |
| Slc22a22 |
G |
A |
15: 57,113,045 (GRCm39) |
T398I |
probably benign |
Het |
| Slc40a1 |
T |
A |
1: 45,950,688 (GRCm39) |
T255S |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,672,214 (GRCm39) |
|
probably null |
Het |
| Soat1 |
A |
T |
1: 156,259,901 (GRCm39) |
V480D |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,722,546 (GRCm39) |
L878P |
possibly damaging |
Het |
| Supt5 |
T |
A |
7: 28,030,914 (GRCm39) |
E39V |
unknown |
Het |
| Tapbpl |
T |
C |
6: 125,203,451 (GRCm39) |
|
probably null |
Het |
| Tdpoz7 |
T |
A |
3: 93,979,939 (GRCm39) |
M5L |
probably benign |
Het |
| Tlr11 |
A |
T |
14: 50,600,113 (GRCm39) |
I700F |
probably damaging |
Het |
| Tmc3 |
A |
T |
7: 83,271,353 (GRCm39) |
K864M |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 73,964,621 (GRCm39) |
P81S |
probably benign |
Het |
| Tspan2 |
C |
A |
3: 102,668,270 (GRCm39) |
L168I |
probably benign |
Het |
| Unc13d |
C |
A |
11: 115,955,633 (GRCm39) |
S885I |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,976,082 (GRCm39) |
M799K |
possibly damaging |
Het |
| Usp34 |
A |
G |
11: 23,313,097 (GRCm39) |
D547G |
|
Het |
| Vps33b |
A |
G |
7: 79,925,837 (GRCm39) |
I95V |
probably benign |
Het |
|
| Other mutations in Cntn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Cntn3
|
APN |
6 |
102,397,223 (GRCm39) |
nonsense |
probably null |
|
|
IGL00706:Cntn3
|
APN |
6 |
102,180,910 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01071:Cntn3
|
APN |
6 |
102,397,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01769:Cntn3
|
APN |
6 |
102,185,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01995:Cntn3
|
APN |
6 |
102,180,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Cntn3
|
APN |
6 |
102,176,321 (GRCm39) |
splice site |
probably benign |
|
|
IGL02736:Cntn3
|
APN |
6 |
102,180,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02955:Cntn3
|
APN |
6 |
102,255,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02971:Cntn3
|
APN |
6 |
102,145,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03208:Cntn3
|
APN |
6 |
102,164,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P0037:Cntn3
|
UTSW |
6 |
102,186,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Cntn3
|
UTSW |
6 |
102,441,527 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0314:Cntn3
|
UTSW |
6 |
102,397,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Cntn3
|
UTSW |
6 |
102,254,277 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0483:Cntn3
|
UTSW |
6 |
102,180,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0543:Cntn3
|
UTSW |
6 |
102,246,051 (GRCm39) |
splice site |
probably benign |
|
|
R0629:Cntn3
|
UTSW |
6 |
102,180,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Cntn3
|
UTSW |
6 |
102,145,908 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0693:Cntn3
|
UTSW |
6 |
102,145,908 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0781:Cntn3
|
UTSW |
6 |
102,222,119 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1110:Cntn3
|
UTSW |
6 |
102,222,119 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1144:Cntn3
|
UTSW |
6 |
102,219,087 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1503:Cntn3
|
UTSW |
6 |
102,441,526 (GRCm39) |
nonsense |
probably null |
|
|
R1640:Cntn3
|
UTSW |
6 |
102,218,974 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1681:Cntn3
|
UTSW |
6 |
102,147,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Cntn3
|
UTSW |
6 |
102,246,166 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1782:Cntn3
|
UTSW |
6 |
102,250,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1861:Cntn3
|
UTSW |
6 |
102,222,032 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1930:Cntn3
|
UTSW |
6 |
102,219,014 (GRCm39) |
nonsense |
probably null |
|
|
R2026:Cntn3
|
UTSW |
6 |
102,397,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Cntn3
|
UTSW |
6 |
102,183,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2313:Cntn3
|
UTSW |
6 |
102,180,889 (GRCm39) |
missense |
probably benign |
|
|
R2351:Cntn3
|
UTSW |
6 |
102,314,344 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3611:Cntn3
|
UTSW |
6 |
102,185,038 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4349:Cntn3
|
UTSW |
6 |
102,176,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Cntn3
|
UTSW |
6 |
102,441,508 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4513:Cntn3
|
UTSW |
6 |
102,145,943 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4678:Cntn3
|
UTSW |
6 |
102,180,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Cntn3
|
UTSW |
6 |
102,142,292 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4720:Cntn3
|
UTSW |
6 |
102,218,983 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4879:Cntn3
|
UTSW |
6 |
102,244,389 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4951:Cntn3
|
UTSW |
6 |
102,145,986 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5410:Cntn3
|
UTSW |
6 |
102,255,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5502:Cntn3
|
UTSW |
6 |
102,242,295 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5852:Cntn3
|
UTSW |
6 |
102,397,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5903:Cntn3
|
UTSW |
6 |
102,219,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6193:Cntn3
|
UTSW |
6 |
102,185,092 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6258:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6260:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6350:Cntn3
|
UTSW |
6 |
102,147,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Cntn3
|
UTSW |
6 |
102,255,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6993:Cntn3
|
UTSW |
6 |
102,255,365 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7064:Cntn3
|
UTSW |
6 |
102,250,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7174:Cntn3
|
UTSW |
6 |
102,142,305 (GRCm39) |
missense |
probably benign |
|
|
R7208:Cntn3
|
UTSW |
6 |
102,255,383 (GRCm39) |
nonsense |
probably null |
|
|
R7395:Cntn3
|
UTSW |
6 |
102,314,355 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7447:Cntn3
|
UTSW |
6 |
102,255,416 (GRCm39) |
nonsense |
probably null |
|
|
R7571:Cntn3
|
UTSW |
6 |
102,255,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Cntn3
|
UTSW |
6 |
102,397,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7614:Cntn3
|
UTSW |
6 |
102,142,337 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7697:Cntn3
|
UTSW |
6 |
102,185,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Cntn3
|
UTSW |
6 |
102,185,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Cntn3
|
UTSW |
6 |
102,242,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8011:Cntn3
|
UTSW |
6 |
102,414,860 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8013:Cntn3
|
UTSW |
6 |
102,176,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8377:Cntn3
|
UTSW |
6 |
102,186,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8726:Cntn3
|
UTSW |
6 |
102,146,014 (GRCm39) |
nonsense |
probably null |
|
|
R8770:Cntn3
|
UTSW |
6 |
102,254,277 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8827:Cntn3
|
UTSW |
6 |
102,246,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8947:Cntn3
|
UTSW |
6 |
102,414,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Cntn3
|
UTSW |
6 |
102,181,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9055:Cntn3
|
UTSW |
6 |
102,244,398 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9061:Cntn3
|
UTSW |
6 |
102,314,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Cntn3
|
UTSW |
6 |
102,183,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Cntn3
|
UTSW |
6 |
102,254,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cntn3
|
UTSW |
6 |
102,397,255 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1176:Cntn3
|
UTSW |
6 |
102,414,892 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Cntn3
|
UTSW |
6 |
102,314,292 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCATCTCAGATTCCTCTAAAAG -3'
(R):5'- TCCAGAGCCTTAAAGACCTTCAAG -3'
Sequencing Primer
(F):5'- CATAGCTGAAAACAACATGCATAATC -3'
(R):5'- AAGACCTTCAAGGCTGTTGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation