Incidental Mutation 'R7192:Cntnap4'
ID 559657
Institutional Source Beutler Lab
Gene Symbol Cntnap4
Ensembl Gene ENSMUSG00000031772
Gene Name contactin associated protein-like 4
Synonyms Caspr4, E130114F09Rik
MMRRC Submission 045333-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7192 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 113296675-113609349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113608432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1284 (V1284A)
Ref Sequence ENSEMBL: ENSMUSP00000034225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034225] [ENSMUST00000118171]
AlphaFold Q99P47
Predicted Effect probably benign
Transcript: ENSMUST00000034225
AA Change: V1284A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034225
Gene: ENSMUSG00000031772
AA Change: V1284A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FA58C 32 179 2.35e-19 SMART
LamG 206 343 5.14e-25 SMART
LamG 392 526 1.04e-25 SMART
EGF 554 588 1.4e0 SMART
Blast:FBG 591 775 1e-120 BLAST
LamG 815 942 1.01e-32 SMART
EGF 963 999 1.36e1 SMART
LamG 1040 1178 7.8e-16 SMART
transmembrane domain 1244 1266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118171
AA Change: V1284A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112511
Gene: ENSMUSG00000031772
AA Change: V1284A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FA58C 32 179 2.35e-19 SMART
LamG 206 343 5.14e-25 SMART
LamG 392 526 1.04e-25 SMART
EGF 554 588 1.4e0 SMART
Blast:FBG 591 775 1e-120 BLAST
LamG 815 942 1.01e-32 SMART
EGF 963 999 1.36e1 SMART
LamG 1040 1178 2.06e-15 SMART
transmembrane domain 1244 1266 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (72/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous knock-out mice show increased midbrain dopaminergic release in the nucleus accumbens, synaptic defects, impaired sensory-motor gating, and increased grooming behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik G A 2: 30,686,188 (GRCm39) T329I probably damaging Het
Actl6a C A 3: 32,774,373 (GRCm39) P290H probably damaging Het
Akap9 T A 5: 4,055,723 (GRCm39) probably null Het
Anxa2r2 T A 13: 120,488,241 (GRCm39) K103* probably null Het
Bach1 C T 16: 87,526,551 (GRCm39) S671L possibly damaging Het
Cacna1c T C 6: 118,633,210 (GRCm39) I1099V Het
Cage1 G T 13: 38,203,220 (GRCm39) P615T probably benign Het
Caskin2 C A 11: 115,692,202 (GRCm39) R861L probably damaging Het
Cc2d2b A G 19: 40,762,881 (GRCm39) T386A unknown Het
Ccndbp1 A G 2: 120,843,424 (GRCm39) D272G probably damaging Het
Cep192 T A 18: 67,983,599 (GRCm39) V1553E probably damaging Het
Cfhr4 T A 1: 139,667,033 (GRCm39) H414L probably damaging Het
Chrm5 C T 2: 112,310,672 (GRCm39) G148D probably damaging Het
Cpd T C 11: 76,705,667 (GRCm39) Y355C probably damaging Het
Csmd3 C T 15: 47,567,633 (GRCm39) V1266I Het
Cyfip2 T C 11: 46,145,493 (GRCm39) E609G probably benign Het
Dbr1 T C 9: 99,458,755 (GRCm39) probably null Het
Dmxl1 T C 18: 50,088,920 (GRCm39) Y2800H probably damaging Het
Dnajc6 G T 4: 101,455,000 (GRCm39) A64S probably benign Het
Dpp8 A T 9: 64,953,068 (GRCm39) N248I possibly damaging Het
Dsp A T 13: 38,379,569 (GRCm39) I2105F probably benign Het
Edem1 G A 6: 108,805,965 (GRCm39) V89M probably benign Het
Eml4 A G 17: 83,761,890 (GRCm39) Q528R probably benign Het
Epb42 A T 2: 120,854,578 (GRCm39) V669D unknown Het
Fat4 A T 3: 39,034,613 (GRCm39) Q2755L probably benign Het
Gata6 A G 18: 11,054,475 (GRCm39) K135E possibly damaging Het
Gmeb1 A T 4: 131,955,201 (GRCm39) F325I probably benign Het
H2-M10.3 C T 17: 36,677,451 (GRCm39) E276K probably damaging Het
H4c17 A T 13: 21,996,227 (GRCm39) K92* probably null Het
Ifi207 T C 1: 173,556,584 (GRCm39) N718S not run Het
Il6st A G 13: 112,631,741 (GRCm39) N427D probably benign Het
Kat7 T A 11: 95,166,656 (GRCm39) M509L probably benign Het
Klk1b4 T C 7: 43,859,045 (GRCm39) V21A probably benign Het
Malt1 T A 18: 65,570,898 (GRCm39) L78Q probably benign Het
Mertk A G 2: 128,635,028 (GRCm39) probably null Het
Myo1b A G 1: 51,796,376 (GRCm39) L1016P probably damaging Het
Neu4 A G 1: 93,952,863 (GRCm39) I411V probably benign Het
Nutm2 A T 13: 50,627,105 (GRCm39) D420V probably damaging Het
Or10j3b T A 1: 173,043,575 (GRCm39) M119K probably damaging Het
Or2w2 A G 13: 21,758,539 (GRCm39) L29P probably damaging Het
Or4k1 T C 14: 50,377,577 (GRCm39) E173G possibly damaging Het
Or5ac24 T C 16: 59,165,542 (GRCm39) D174G probably benign Het
Pcdha12 C T 18: 37,153,316 (GRCm39) R12W probably benign Het
Pdgfra G T 5: 75,343,767 (GRCm39) D763Y probably damaging Het
Pkd2 T C 5: 104,634,523 (GRCm39) V518A probably benign Het
Prb1a G T 6: 132,184,335 (GRCm39) P433T unknown Het
Ptrh2 A G 11: 86,580,835 (GRCm39) T151A probably damaging Het
Qars1 T A 9: 108,388,760 (GRCm39) N273K probably damaging Het
Robo2 T C 16: 73,717,638 (GRCm39) Y1154C probably benign Het
Rps6kc1 T A 1: 190,532,556 (GRCm39) D482V probably damaging Het
Sec16b T C 1: 157,357,013 (GRCm39) S74P probably benign Het
Serpinb2 A T 1: 107,452,306 (GRCm39) I295F probably damaging Het
Sh3pxd2b T A 11: 32,364,318 (GRCm39) D301E probably damaging Het
Sipa1l2 G A 8: 126,149,348 (GRCm39) T1637I probably benign Het
Slc27a4 A T 2: 29,695,941 (GRCm39) N159Y probably damaging Het
Stat1 A C 1: 52,174,780 (GRCm39) K161Q possibly damaging Het
Stc2 T C 11: 31,319,872 (GRCm39) probably benign Het
Strip1 A G 3: 107,522,651 (GRCm39) W681R possibly damaging Het
Sv2a G A 3: 96,101,062 (GRCm39) G687S probably damaging Het
Thnsl2 C T 6: 71,116,739 (GRCm39) V138I probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tnfrsf1a T C 6: 125,338,559 (GRCm39) S235P unknown Het
Tpbg T A 9: 85,726,085 (GRCm39) L18* probably null Het
Trabd2b A T 4: 114,467,217 (GRCm39) Q482L possibly damaging Het
Trim35 T A 14: 66,534,895 (GRCm39) F126Y probably damaging Het
Ttn A T 2: 76,658,288 (GRCm39) V12364D unknown Het
Ubac2 A G 14: 122,211,128 (GRCm39) Y166C probably damaging Het
Unc13b T A 4: 43,258,519 (GRCm39) V1320D probably damaging Het
Usp34 T A 11: 23,410,571 (GRCm39) Y2693N Het
Utp20 A T 10: 88,608,321 (GRCm39) M1572K probably benign Het
Vmn1r7 C T 6: 57,001,452 (GRCm39) M269I probably benign Het
Vmn2r3 C T 3: 64,167,364 (GRCm39) G589D probably benign Het
Vrtn A T 12: 84,695,636 (GRCm39) M129L probably damaging Het
Zfp273 A T 13: 67,973,183 (GRCm39) T104S possibly damaging Het
Zfp384 T A 6: 125,010,275 (GRCm39) N390K probably damaging Het
Znfx1 A G 2: 166,884,110 (GRCm39) M933T probably benign Het
Other mutations in Cntnap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Cntnap4 APN 8 113,494,251 (GRCm39) splice site probably benign
IGL01898:Cntnap4 APN 8 113,582,939 (GRCm39) missense possibly damaging 0.46
IGL01918:Cntnap4 APN 8 113,478,866 (GRCm39) missense possibly damaging 0.67
IGL02257:Cntnap4 APN 8 113,343,126 (GRCm39) missense probably damaging 1.00
IGL02302:Cntnap4 APN 8 113,512,535 (GRCm39) splice site probably benign
IGL02621:Cntnap4 APN 8 113,537,355 (GRCm39) missense probably damaging 1.00
IGL03008:Cntnap4 APN 8 113,500,222 (GRCm39) missense probably benign 0.06
IGL03327:Cntnap4 APN 8 113,500,208 (GRCm39) missense probably benign 0.00
IGL03346:Cntnap4 APN 8 113,500,208 (GRCm39) missense probably benign 0.00
R0025:Cntnap4 UTSW 8 113,529,796 (GRCm39) missense probably damaging 1.00
R0025:Cntnap4 UTSW 8 113,529,796 (GRCm39) missense probably damaging 1.00
R0058:Cntnap4 UTSW 8 113,512,416 (GRCm39) missense probably damaging 0.98
R0310:Cntnap4 UTSW 8 113,569,148 (GRCm39) critical splice acceptor site probably null
R0363:Cntnap4 UTSW 8 113,583,143 (GRCm39) nonsense probably null
R0497:Cntnap4 UTSW 8 113,296,783 (GRCm39) missense probably benign 0.00
R1495:Cntnap4 UTSW 8 113,608,395 (GRCm39) missense possibly damaging 0.81
R1579:Cntnap4 UTSW 8 113,608,462 (GRCm39) missense possibly damaging 0.89
R1704:Cntnap4 UTSW 8 113,484,155 (GRCm39) missense probably damaging 1.00
R1943:Cntnap4 UTSW 8 113,542,128 (GRCm39) missense probably benign 0.10
R2160:Cntnap4 UTSW 8 113,484,203 (GRCm39) missense probably damaging 1.00
R2226:Cntnap4 UTSW 8 113,542,120 (GRCm39) missense probably damaging 0.98
R3148:Cntnap4 UTSW 8 113,484,071 (GRCm39) missense probably damaging 1.00
R3916:Cntnap4 UTSW 8 113,602,165 (GRCm39) missense probably benign 0.02
R3917:Cntnap4 UTSW 8 113,602,165 (GRCm39) missense probably benign 0.02
R4097:Cntnap4 UTSW 8 113,478,939 (GRCm39) missense probably benign 0.03
R4348:Cntnap4 UTSW 8 113,480,554 (GRCm39) missense probably damaging 1.00
R4469:Cntnap4 UTSW 8 113,391,898 (GRCm39) missense probably damaging 1.00
R4530:Cntnap4 UTSW 8 113,584,842 (GRCm39) missense probably benign 0.32
R4531:Cntnap4 UTSW 8 113,537,240 (GRCm39) missense possibly damaging 0.90
R4586:Cntnap4 UTSW 8 113,537,342 (GRCm39) missense probably benign
R4611:Cntnap4 UTSW 8 113,500,371 (GRCm39) critical splice donor site probably null
R4675:Cntnap4 UTSW 8 113,512,468 (GRCm39) missense probably damaging 1.00
R4801:Cntnap4 UTSW 8 113,500,222 (GRCm39) missense possibly damaging 0.94
R4802:Cntnap4 UTSW 8 113,500,222 (GRCm39) missense possibly damaging 0.94
R5273:Cntnap4 UTSW 8 113,460,070 (GRCm39) missense probably damaging 1.00
R6114:Cntnap4 UTSW 8 113,568,385 (GRCm39) missense probably damaging 1.00
R6194:Cntnap4 UTSW 8 113,602,061 (GRCm39) missense probably damaging 1.00
R6222:Cntnap4 UTSW 8 113,569,353 (GRCm39) missense probably damaging 1.00
R6262:Cntnap4 UTSW 8 113,529,843 (GRCm39) missense probably damaging 0.99
R6276:Cntnap4 UTSW 8 113,478,921 (GRCm39) missense possibly damaging 0.94
R6483:Cntnap4 UTSW 8 113,484,105 (GRCm39) missense possibly damaging 0.82
R6819:Cntnap4 UTSW 8 113,529,858 (GRCm39) missense probably benign 0.03
R7031:Cntnap4 UTSW 8 113,584,874 (GRCm39) missense probably benign 0.01
R7107:Cntnap4 UTSW 8 113,542,120 (GRCm39) missense probably damaging 0.98
R7146:Cntnap4 UTSW 8 113,537,268 (GRCm39) missense probably damaging 1.00
R7232:Cntnap4 UTSW 8 113,391,731 (GRCm39) splice site probably null
R7348:Cntnap4 UTSW 8 113,391,909 (GRCm39) missense probably damaging 1.00
R7482:Cntnap4 UTSW 8 113,460,194 (GRCm39) critical splice donor site probably null
R7832:Cntnap4 UTSW 8 113,484,113 (GRCm39) missense probably benign
R7895:Cntnap4 UTSW 8 113,478,829 (GRCm39) missense probably damaging 0.99
R8014:Cntnap4 UTSW 8 113,480,577 (GRCm39) missense probably damaging 0.99
R8185:Cntnap4 UTSW 8 113,391,897 (GRCm39) missense probably damaging 1.00
R8197:Cntnap4 UTSW 8 113,296,857 (GRCm39) missense probably benign 0.00
R8287:Cntnap4 UTSW 8 113,585,775 (GRCm39) missense probably damaging 1.00
R8299:Cntnap4 UTSW 8 113,500,324 (GRCm39) missense probably damaging 1.00
R8498:Cntnap4 UTSW 8 113,602,211 (GRCm39) missense possibly damaging 0.52
R8699:Cntnap4 UTSW 8 113,484,228 (GRCm39) missense probably damaging 1.00
R8774:Cntnap4 UTSW 8 113,529,820 (GRCm39) missense probably benign 0.01
R8774-TAIL:Cntnap4 UTSW 8 113,529,820 (GRCm39) missense probably benign 0.01
R8872:Cntnap4 UTSW 8 113,585,759 (GRCm39) missense possibly damaging 0.79
R8895:Cntnap4 UTSW 8 113,479,598 (GRCm39) missense probably benign 0.40
R8965:Cntnap4 UTSW 8 113,479,646 (GRCm39) missense probably damaging 1.00
R9189:Cntnap4 UTSW 8 113,602,600 (GRCm39) missense possibly damaging 0.92
R9260:Cntnap4 UTSW 8 113,500,276 (GRCm39) missense probably benign 0.08
R9474:Cntnap4 UTSW 8 113,460,103 (GRCm39) missense probably damaging 0.99
R9565:Cntnap4 UTSW 8 113,582,982 (GRCm39) missense probably benign 0.43
R9625:Cntnap4 UTSW 8 113,602,181 (GRCm39) missense possibly damaging 0.82
R9629:Cntnap4 UTSW 8 113,568,349 (GRCm39) missense probably damaging 1.00
R9745:Cntnap4 UTSW 8 113,391,808 (GRCm39) missense possibly damaging 0.89
R9765:Cntnap4 UTSW 8 113,568,496 (GRCm39) missense probably damaging 0.97
R9765:Cntnap4 UTSW 8 113,484,110 (GRCm39) missense probably benign 0.00
R9793:Cntnap4 UTSW 8 113,608,357 (GRCm39) missense probably benign 0.00
R9795:Cntnap4 UTSW 8 113,608,357 (GRCm39) missense probably benign 0.00
X0025:Cntnap4 UTSW 8 113,585,775 (GRCm39) missense probably damaging 1.00
X0063:Cntnap4 UTSW 8 113,602,211 (GRCm39) missense probably benign 0.05
Z1088:Cntnap4 UTSW 8 113,542,152 (GRCm39) missense probably damaging 1.00
Z1176:Cntnap4 UTSW 8 113,584,821 (GRCm39) missense possibly damaging 0.70
Z1186:Cntnap4 UTSW 8 113,479,002 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAGATGGTTGACTTCAGTGG -3'
(R):5'- GGTCAGGGTTAGAGCAGTTCTC -3'

Sequencing Primer
(F):5'- TCCCTGGACTAATTAAGCCATGAGG -3'
(R):5'- AGAGCAGTTCTCGTCCTCTGAG -3'
Posted On 2019-06-26