Incidental Mutation 'R0613:Cntnap3'
| ID |
54909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
038802-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0613 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64906228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 793
(F793I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: F793I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: F793I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222618
|
| Meta Mutation Damage Score |
0.0842 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
100% (72/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
A |
T |
8: 106,427,200 (GRCm39) |
|
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,237,403 (GRCm39) |
S3P |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,248,859 (GRCm39) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,249,004 (GRCm39) |
E700G |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,596,979 (GRCm39) |
S56P |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,611,978 (GRCm39) |
I384N |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,399,036 (GRCm39) |
S1519T |
probably benign |
Het |
| Ccl25 |
T |
C |
8: 4,399,850 (GRCm39) |
V94A |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,602,246 (GRCm39) |
T287A |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,752,209 (GRCm39) |
S383P |
probably benign |
Het |
| Ctsm |
T |
C |
13: 61,687,496 (GRCm39) |
R89G |
probably damaging |
Het |
| Cyp2j12 |
T |
G |
4: 95,990,316 (GRCm39) |
T417P |
probably damaging |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Edn2 |
T |
A |
4: 120,019,061 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
A |
4: 139,102,383 (GRCm39) |
|
probably benign |
Het |
| Entrep1 |
T |
A |
19: 23,963,853 (GRCm39) |
N239Y |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,848,347 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,824,139 (GRCm39) |
D6624V |
probably damaging |
Het |
| Gpr107 |
A |
G |
2: 31,068,297 (GRCm39) |
Y253C |
probably damaging |
Het |
| Gpr108 |
A |
G |
17: 57,545,174 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
G |
16: 87,848,221 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
| Gucy2c |
A |
T |
6: 136,737,721 (GRCm39) |
N293K |
probably damaging |
Het |
| Hps6 |
C |
A |
19: 45,992,260 (GRCm39) |
P66T |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 35,081,033 (GRCm39) |
V216E |
probably damaging |
Het |
| Igsf8 |
T |
A |
1: 172,145,156 (GRCm39) |
M224K |
probably benign |
Het |
| Igsf9b |
T |
C |
9: 27,238,216 (GRCm39) |
V569A |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,884,168 (GRCm39) |
I952F |
probably damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Khdrbs2 |
A |
G |
1: 32,696,603 (GRCm39) |
H344R |
possibly damaging |
Het |
| Kmo |
C |
A |
1: 175,465,458 (GRCm39) |
R71S |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,739,184 (GRCm39) |
|
probably benign |
Het |
| Map1b |
T |
A |
13: 99,578,149 (GRCm39) |
D168V |
probably damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,697,855 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
G |
A |
6: 138,133,243 (GRCm39) |
G186D |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,299,630 (GRCm39) |
A740V |
probably damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,610,503 (GRCm39) |
Y1605H |
possibly damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,898,509 (GRCm39) |
L443Q |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,060,807 (GRCm39) |
|
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,353 (GRCm39) |
L363Q |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 108,092,927 (GRCm39) |
T630A |
possibly damaging |
Het |
| Nipal4 |
A |
T |
11: 46,041,211 (GRCm39) |
V328E |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,918,861 (GRCm39) |
I77F |
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
| Or4c122 |
A |
T |
2: 89,079,469 (GRCm39) |
C178S |
probably damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,053 (GRCm39) |
V223E |
possibly damaging |
Het |
| Or6c76 |
T |
A |
10: 129,612,131 (GRCm39) |
M116K |
probably damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,909 (GRCm39) |
C166* |
probably null |
Het |
| Otogl |
A |
T |
10: 107,652,931 (GRCm39) |
N1140K |
probably damaging |
Het |
| Ppip5k2 |
A |
C |
1: 97,680,465 (GRCm39) |
Y236* |
probably null |
Het |
| Prelid1 |
C |
T |
13: 55,472,156 (GRCm39) |
R111* |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,394,270 (GRCm39) |
L1771P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,138,230 (GRCm39) |
Y378F |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,138,283 (GRCm39) |
T396A |
possibly damaging |
Het |
| Rab3il1 |
T |
C |
19: 10,005,728 (GRCm39) |
L174P |
probably damaging |
Het |
| Rab4a |
T |
C |
8: 124,550,574 (GRCm39) |
V18A |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,302,628 (GRCm39) |
M1273L |
possibly damaging |
Het |
| Sdhc |
A |
T |
1: 170,957,413 (GRCm39) |
V156E |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,996,382 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,924,371 (GRCm39) |
T343A |
probably benign |
Het |
| Syt11 |
A |
G |
3: 88,669,776 (GRCm39) |
C39R |
probably damaging |
Het |
| Tll2 |
G |
T |
19: 41,093,429 (GRCm39) |
D462E |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,329,164 (GRCm39) |
V481D |
probably damaging |
Het |
| Tmem161b |
C |
T |
13: 84,399,439 (GRCm39) |
L17F |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,428,578 (GRCm39) |
I833F |
probably damaging |
Het |
| Vstm2a |
A |
T |
11: 16,213,140 (GRCm39) |
N175I |
probably damaging |
Het |
| Xpnpep1 |
G |
T |
19: 52,994,784 (GRCm39) |
D238E |
probably damaging |
Het |
| Zfp112 |
G |
A |
7: 23,826,453 (GRCm39) |
G807D |
probably benign |
Het |
| Zfp518b |
A |
T |
5: 38,830,946 (GRCm39) |
V353E |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,791,544 (GRCm39) |
E39G |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,032,090 (GRCm39) |
H25R |
possibly damaging |
Het |
|
| Other mutations in Cntnap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Cntnap3
|
APN |
13 |
64,920,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00782:Cntnap3
|
APN |
13 |
64,893,619 (GRCm39) |
splice site |
probably benign |
|
|
IGL00976:Cntnap3
|
APN |
13 |
64,942,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01319:Cntnap3
|
APN |
13 |
64,935,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Cntnap3
|
APN |
13 |
64,905,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01861:Cntnap3
|
APN |
13 |
64,946,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Cntnap3
|
APN |
13 |
64,946,878 (GRCm39) |
splice site |
probably benign |
|
|
IGL02133:Cntnap3
|
APN |
13 |
64,899,487 (GRCm39) |
splice site |
probably benign |
|
|
IGL02251:Cntnap3
|
APN |
13 |
64,909,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Cntnap3
|
APN |
13 |
64,905,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02370:Cntnap3
|
APN |
13 |
64,899,565 (GRCm39) |
missense |
probably benign |
|
|
IGL02456:Cntnap3
|
APN |
13 |
64,946,872 (GRCm39) |
splice site |
probably benign |
|
|
IGL02589:Cntnap3
|
APN |
13 |
64,940,244 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02695:Cntnap3
|
APN |
13 |
64,919,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02850:Cntnap3
|
APN |
13 |
64,905,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03038:Cntnap3
|
APN |
13 |
64,888,839 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03188:Cntnap3
|
APN |
13 |
64,929,559 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03327:Cntnap3
|
APN |
13 |
65,035,582 (GRCm39) |
nonsense |
probably null |
|
|
PIT4480001:Cntnap3
|
UTSW |
13 |
64,905,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Cntnap3
|
UTSW |
13 |
64,905,250 (GRCm39) |
splice site |
probably benign |
|
|
R0422:Cntnap3
|
UTSW |
13 |
64,905,099 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0463:Cntnap3
|
UTSW |
13 |
64,926,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Cntnap3
|
UTSW |
13 |
64,909,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0499:Cntnap3
|
UTSW |
13 |
65,006,492 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0550:Cntnap3
|
UTSW |
13 |
64,909,814 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0666:Cntnap3
|
UTSW |
13 |
64,905,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0840:Cntnap3
|
UTSW |
13 |
64,935,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1577:Cntnap3
|
UTSW |
13 |
64,906,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Cntnap3
|
UTSW |
13 |
64,909,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Cntnap3
|
UTSW |
13 |
64,888,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1739:Cntnap3
|
UTSW |
13 |
64,888,406 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1905:Cntnap3
|
UTSW |
13 |
65,051,578 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1988:Cntnap3
|
UTSW |
13 |
64,906,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Cntnap3
|
UTSW |
13 |
64,942,076 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3732:Cntnap3
|
UTSW |
13 |
64,888,813 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3808:Cntnap3
|
UTSW |
13 |
64,929,618 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3809:Cntnap3
|
UTSW |
13 |
64,929,618 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4384:Cntnap3
|
UTSW |
13 |
64,896,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4433:Cntnap3
|
UTSW |
13 |
64,926,667 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4631:Cntnap3
|
UTSW |
13 |
64,926,697 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4645:Cntnap3
|
UTSW |
13 |
64,926,602 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4702:Cntnap3
|
UTSW |
13 |
64,926,676 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4876:Cntnap3
|
UTSW |
13 |
64,935,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4994:Cntnap3
|
UTSW |
13 |
64,909,798 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5043:Cntnap3
|
UTSW |
13 |
64,942,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Cntnap3
|
UTSW |
13 |
64,909,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Cntnap3
|
UTSW |
13 |
64,909,792 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5571:Cntnap3
|
UTSW |
13 |
65,051,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5587:Cntnap3
|
UTSW |
13 |
64,894,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Cntnap3
|
UTSW |
13 |
64,935,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5834:Cntnap3
|
UTSW |
13 |
64,896,391 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5892:Cntnap3
|
UTSW |
13 |
64,946,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Cntnap3
|
UTSW |
13 |
64,935,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Cntnap3
|
UTSW |
13 |
64,929,702 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6954:Cntnap3
|
UTSW |
13 |
64,896,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7138:Cntnap3
|
UTSW |
13 |
64,929,539 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7355:Cntnap3
|
UTSW |
13 |
64,919,776 (GRCm39) |
missense |
probably benign |
|
|
R7425:Cntnap3
|
UTSW |
13 |
64,906,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7521:Cntnap3
|
UTSW |
13 |
64,919,815 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7719:Cntnap3
|
UTSW |
13 |
64,920,591 (GRCm39) |
nonsense |
probably null |
|
|
R7810:Cntnap3
|
UTSW |
13 |
64,941,122 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7871:Cntnap3
|
UTSW |
13 |
65,051,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Cntnap3
|
UTSW |
13 |
64,935,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8415:Cntnap3
|
UTSW |
13 |
64,886,479 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8491:Cntnap3
|
UTSW |
13 |
64,933,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9086:Cntnap3
|
UTSW |
13 |
64,929,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Cntnap3
|
UTSW |
13 |
64,899,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9398:Cntnap3
|
UTSW |
13 |
65,051,648 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9475:Cntnap3
|
UTSW |
13 |
64,946,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Cntnap3
|
UTSW |
13 |
65,006,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9679:Cntnap3
|
UTSW |
13 |
64,899,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cntnap3
|
UTSW |
13 |
64,940,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Cntnap3
|
UTSW |
13 |
64,888,686 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Cntnap3
|
UTSW |
13 |
64,929,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGAAGTCAGTGATTCCCAGGTTCTC -3'
(R):5'- TCACAACATGTACAAGAAGCATGTAGCA -3'
Sequencing Primer
(F):5'- ATTCCCAGGTTCTCCATGAACAC -3'
(R):5'- tgtgtgtgtgtgtgtTTATGATG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation