Incidental Mutation 'R9398:Cntnap3'
| ID |
710961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
64736182-64903955 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64903834 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 3
(R3W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091554
AA Change: R3W
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: R3W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FA58C
|
33 |
180 |
4.88e-17 |
SMART |
|
LamG
|
207 |
345 |
1.47e-11 |
SMART |
|
LamG
|
394 |
525 |
1.43e-23 |
SMART |
|
EGF
|
553 |
587 |
1.33e-1 |
SMART |
|
FBG
|
590 |
775 |
6.76e-1 |
SMART |
|
LamG
|
815 |
942 |
1.89e-32 |
SMART |
|
EGF_like
|
963 |
999 |
6.28e1 |
SMART |
|
LamG
|
1040 |
1178 |
9.46e-15 |
SMART |
|
transmembrane domain
|
1245 |
1267 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,137,043 (GRCm38) |
K228* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,179,205 (GRCm38) |
D183G |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,305,639 (GRCm38) |
Y134H |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,318,992 (GRCm38) |
T217A |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,521,038 (GRCm38) |
T89I |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,774,626 (GRCm38) |
I1062T |
probably benign |
Het |
| Ctss |
T |
C |
3: 95,546,947 (GRCm38) |
F270S |
possibly damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,657,660 (GRCm38) |
G118R |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,129,917 (GRCm38) |
K69E |
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,139,658 (GRCm38) |
G328D |
probably damaging |
Het |
| Dock1 |
C |
T |
7: 135,172,499 (GRCm38) |
T1852M |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 35,805,202 (GRCm38) |
Y1346H |
probably benign |
Het |
| Gm6614 |
A |
G |
6: 141,994,785 (GRCm38) |
S137P |
possibly damaging |
Het |
| Gprin1 |
G |
T |
13: 54,739,570 (GRCm38) |
T297N |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 44,013,018 (GRCm38) |
F187S |
probably damaging |
Het |
| Gse1 |
A |
G |
8: 120,576,335 (GRCm38) |
N1072D |
unknown |
Het |
| Gtf3c6 |
G |
A |
10: 40,257,524 (GRCm38) |
|
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,433,217 (GRCm38) |
T897S |
probably benign |
Het |
| Igsf21 |
T |
A |
4: 140,246,451 (GRCm38) |
|
probably benign |
Het |
| Itgb1 |
A |
G |
8: 128,726,124 (GRCm38) |
I757V |
probably damaging |
Het |
| Lamb2 |
C |
T |
9: 108,487,167 (GRCm38) |
R1102W |
possibly damaging |
Het |
| Lzts2 |
T |
G |
19: 45,024,769 (GRCm38) |
C374W |
unknown |
Het |
| Mapk10 |
A |
T |
5: 102,913,286 (GRCm38) |
S462T |
probably damaging |
Het |
| Mtcl1 |
A |
T |
17: 66,448,467 (GRCm38) |
D293E |
possibly damaging |
Het |
| Nf1 |
T |
G |
11: 79,547,192 (GRCm38) |
H109Q |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 20,049,510 (GRCm38) |
L926P |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,102,352 (GRCm38) |
D532N |
probably damaging |
Het |
| Olfm4 |
A |
T |
14: 80,011,809 (GRCm38) |
Y122F |
probably benign |
Het |
| Olfr1001-ps1 |
T |
C |
2: 85,634,023 (GRCm38) |
V198A |
probably benign |
Het |
| Olfr141 |
A |
G |
2: 86,806,816 (GRCm38) |
L61P |
possibly damaging |
Het |
| Olfr502 |
T |
C |
7: 108,523,828 (GRCm38) |
T41A |
probably damaging |
Het |
| Olfr569 |
A |
G |
7: 102,887,793 (GRCm38) |
M120T |
probably damaging |
Het |
| Olfr603 |
T |
A |
7: 103,383,280 (GRCm38) |
T241S |
probably damaging |
Het |
| Olfr684 |
A |
T |
7: 105,156,799 (GRCm38) |
Y294* |
probably null |
Het |
| P2rx2 |
A |
T |
5: 110,340,272 (GRCm38) |
M472K |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,447,634 (GRCm38) |
K487E |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,160,919 (GRCm38) |
V1108A |
probably benign |
Het |
| Polq |
A |
G |
16: 37,061,032 (GRCm38) |
N1186S |
probably benign |
Het |
| Por |
T |
A |
5: 135,725,743 (GRCm38) |
W6R |
unknown |
Het |
| Prex2 |
G |
A |
1: 11,136,804 (GRCm38) |
V529I |
probably benign |
Het |
| Rgs6 |
T |
G |
12: 82,651,841 (GRCm38) |
S5A |
probably benign |
Het |
| Rp9 |
G |
T |
9: 22,448,786 (GRCm38) |
S171* |
probably null |
Het |
| Sec11c |
T |
A |
18: 65,809,497 (GRCm38) |
I47N |
possibly damaging |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,467,570 (GRCm38) |
|
probably benign |
Het |
| Sh2b1 |
GACCAGCTCAGCCACGGG |
GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG |
7: 126,467,574 (GRCm38) |
|
probably benign |
Het |
| Sh2b1 |
GCCACGGGGACCAGCTC |
GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC |
7: 126,467,584 (GRCm38) |
|
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,225,213 (GRCm38) |
M692T |
possibly damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,566,095 (GRCm38) |
Q30L |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,680,450 (GRCm38) |
D15G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 50,828,972 (GRCm38) |
S2344G |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,737,618 (GRCm38) |
Y1824* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 104,128,778 (GRCm38) |
T280A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 46,220,510 (GRCm38) |
R342G |
probably benign |
Het |
| Vmn1r185 |
T |
A |
7: 26,611,631 (GRCm38) |
I150F |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,869,895 (GRCm38) |
T203M |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 13,102,334 (GRCm38) |
M205T |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 145,170,386 (GRCm38) |
Y321* |
probably null |
Het |
|
| Other mutations in Cntnap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Cntnap3
|
APN |
13 |
64,772,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00782:Cntnap3
|
APN |
13 |
64,745,805 (GRCm38) |
splice site |
probably benign |
|
|
IGL00976:Cntnap3
|
APN |
13 |
64,794,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01319:Cntnap3
|
APN |
13 |
64,787,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01610:Cntnap3
|
APN |
13 |
64,757,301 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01861:Cntnap3
|
APN |
13 |
64,799,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02127:Cntnap3
|
APN |
13 |
64,799,064 (GRCm38) |
splice site |
probably benign |
|
|
IGL02133:Cntnap3
|
APN |
13 |
64,751,673 (GRCm38) |
splice site |
probably benign |
|
|
IGL02251:Cntnap3
|
APN |
13 |
64,762,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02272:Cntnap3
|
APN |
13 |
64,757,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02370:Cntnap3
|
APN |
13 |
64,751,751 (GRCm38) |
missense |
probably benign |
|
|
IGL02456:Cntnap3
|
APN |
13 |
64,799,058 (GRCm38) |
splice site |
probably benign |
|
|
IGL02589:Cntnap3
|
APN |
13 |
64,792,430 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02695:Cntnap3
|
APN |
13 |
64,772,132 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02850:Cntnap3
|
APN |
13 |
64,757,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03038:Cntnap3
|
APN |
13 |
64,741,025 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL03188:Cntnap3
|
APN |
13 |
64,781,745 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03327:Cntnap3
|
APN |
13 |
64,887,768 (GRCm38) |
nonsense |
probably null |
|
|
PIT4480001:Cntnap3
|
UTSW |
13 |
64,757,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0309:Cntnap3
|
UTSW |
13 |
64,757,436 (GRCm38) |
splice site |
probably benign |
|
|
R0422:Cntnap3
|
UTSW |
13 |
64,757,285 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0463:Cntnap3
|
UTSW |
13 |
64,778,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0491:Cntnap3
|
UTSW |
13 |
64,762,045 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0499:Cntnap3
|
UTSW |
13 |
64,858,678 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0550:Cntnap3
|
UTSW |
13 |
64,762,000 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0613:Cntnap3
|
UTSW |
13 |
64,758,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0666:Cntnap3
|
UTSW |
13 |
64,757,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0840:Cntnap3
|
UTSW |
13 |
64,787,910 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1577:Cntnap3
|
UTSW |
13 |
64,758,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1716:Cntnap3
|
UTSW |
13 |
64,762,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1732:Cntnap3
|
UTSW |
13 |
64,740,812 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1739:Cntnap3
|
UTSW |
13 |
64,740,592 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1905:Cntnap3
|
UTSW |
13 |
64,903,764 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1988:Cntnap3
|
UTSW |
13 |
64,758,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2086:Cntnap3
|
UTSW |
13 |
64,794,262 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R3732:Cntnap3
|
UTSW |
13 |
64,740,999 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R3808:Cntnap3
|
UTSW |
13 |
64,781,804 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3809:Cntnap3
|
UTSW |
13 |
64,781,804 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4384:Cntnap3
|
UTSW |
13 |
64,748,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4433:Cntnap3
|
UTSW |
13 |
64,778,853 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4631:Cntnap3
|
UTSW |
13 |
64,778,883 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4645:Cntnap3
|
UTSW |
13 |
64,778,788 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4702:Cntnap3
|
UTSW |
13 |
64,778,862 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4876:Cntnap3
|
UTSW |
13 |
64,787,706 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4994:Cntnap3
|
UTSW |
13 |
64,761,984 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5043:Cntnap3
|
UTSW |
13 |
64,794,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5214:Cntnap3
|
UTSW |
13 |
64,762,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5403:Cntnap3
|
UTSW |
13 |
64,761,978 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5571:Cntnap3
|
UTSW |
13 |
64,903,758 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5587:Cntnap3
|
UTSW |
13 |
64,746,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5695:Cntnap3
|
UTSW |
13 |
64,787,955 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5834:Cntnap3
|
UTSW |
13 |
64,748,577 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5892:Cntnap3
|
UTSW |
13 |
64,799,180 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5950:Cntnap3
|
UTSW |
13 |
64,787,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6526:Cntnap3
|
UTSW |
13 |
64,781,888 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R6954:Cntnap3
|
UTSW |
13 |
64,748,559 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7138:Cntnap3
|
UTSW |
13 |
64,781,725 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7355:Cntnap3
|
UTSW |
13 |
64,771,962 (GRCm38) |
missense |
probably benign |
|
|
R7425:Cntnap3
|
UTSW |
13 |
64,758,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7521:Cntnap3
|
UTSW |
13 |
64,772,001 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7719:Cntnap3
|
UTSW |
13 |
64,772,777 (GRCm38) |
nonsense |
probably null |
|
|
R7810:Cntnap3
|
UTSW |
13 |
64,793,308 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7871:Cntnap3
|
UTSW |
13 |
64,903,773 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8259:Cntnap3
|
UTSW |
13 |
64,787,867 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8415:Cntnap3
|
UTSW |
13 |
64,738,665 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8491:Cntnap3
|
UTSW |
13 |
64,785,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9086:Cntnap3
|
UTSW |
13 |
64,781,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9087:Cntnap3
|
UTSW |
13 |
64,751,718 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9475:Cntnap3
|
UTSW |
13 |
64,799,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9625:Cntnap3
|
UTSW |
13 |
64,858,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9679:Cntnap3
|
UTSW |
13 |
64,751,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Cntnap3
|
UTSW |
13 |
64,792,388 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1176:Cntnap3
|
UTSW |
13 |
64,740,872 (GRCm38) |
frame shift |
probably null |
|
|
Z1177:Cntnap3
|
UTSW |
13 |
64,781,892 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTTGCAACTGAATAGGG -3'
(R):5'- ATTGTGTGCAGCTGGAGCAG -3'
Sequencing Primer
(F):5'- GAAACCCCATTTTTATTTTTCACCAG -3'
(R):5'- GCAGAGGCTCTGGCTTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation